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Sample records for european continental ancestry group

  1. Prognostic Value of Different Allelic Polymorphism of Aldosterone Synthase Receptor in a Congestive Heart Failure European Continental Ancestry Population.

    Science.gov (United States)

    Feola, Mauro; Monteverde, Martino; Vivenza, Daniela; Testa, Marzia; Leto, Laura; Astesana, Valentina; Mussapi, Francesco; Vado, Antonello; Merlano, Marco; Lo Nigro, Cristiana

    2017-02-01

    Aldosterone synthase (CYP11B2) is as an 9-exon gene on chromosome 8q22 and exists as a common single nucleotide polymorphism C-T transition for position -344. The aim of this study was to assess the -344T/C polymorphism of the aldosterone synthase promoter in a European continental ancestry congestive heart failure (CHF) population. Patients discharged after an acute decompensation were enrolled and underwent echocardiography, determination of BNP, evaluation of non-invasive cardiac outputs and determination of -344 T/C SNP in the aldosterone synthase gene. 175 patients (137 male; age 69.9 ± 10.2 years) were enrolled. The genotype distribution of -344 T/C SNP demonstrated a TT genotype in 61 patients (34.9%), CT in 80 (45.7%) and finally CC in 34 (19.4%) CHF patients. According to presence of C allele, CHF patients were divided into C group (-CT/CC genotype, 114 subjects) and T Group (-TT genotype, 61 subjects). The two groups did not differ in term of age, non-invasive cardiac output at rest, creatinine level or end-systolic or diastolic left ventricle diameter, LVEF and BNP. In group C patients in comparison than in group T a higher degree of disability (Barthel Index p = 0.004), NYHA class (p = 0.02) and a lower cardiac index (p = 0.01) emerged. Moreover, the two groups showed a similar clinical outcome (death for any cause/hospital readmission for CHF) at 48 month follow-up (p = 0.16; log-rank 1.99). In European continental ancestry patients the C allele (CC or CT) at -344T/C SNP in the aldosterone synthase gene does not significantly influence clinical prognosis of CHF. Copyright © 2017 IMSS. Published by Elsevier Inc. All rights reserved.

  2. European Population Genetic Substructure: Further Definition of Ancestry Informative Markers for Distinguishing Among Diverse European Ethnic Groups

    Science.gov (United States)

    Tian, Chao; Kosoy, Roman; Nassir, Rami; Lee, Annette; Villoslada, Pablo; Klareskog, Lars; Hammarström, Lennart; Garchon, Henri-Jean; Pulver, Ann E.; Ransom, Michael; Gregersen, Peter K.; Seldin, Michael F.

    2009-01-01

    The definition of European population genetic substructure and its application to understanding complex phenotypes is becoming increasingly important. In the current study using over 4000 subjects genotyped for 300 thousand SNPs we provide further insight into relationships among European population groups and identify sets of SNP ancestry informative markers (AIMs) for application in genetic studies. In general, the graphical description of these principal components analyses (PCA) of diverse European subjects showed a strong correspondence to the geographical relationships of specific countries or regions of origin. Clearer separation of different ethnic and regional populations was observed when northern and southern European groups were considered separately and the PCA results were influenced by the inclusion or exclusion of different self-identified population groups including Ashkenazi Jewish, Sardinian and Orcadian ethnic groups. SNP AIM sets were identified that could distinguish the regional and ethnic population groups. Moreover, the studies demonstrated that most allele frequency differences between different European groups could be effectively controlled in analyses using these AIM sets. The European substructure AIMs should be widely applicable to ongoing studies to confirm and delineate specific disease susceptibility candidate regions without the necessity to perform additional genome-wide SNP studies in additional subject sets. PMID:19707526

  3. European population genetic substructure: further definition of ancestry informative markers for distinguishing among diverse European ethnic groups.

    Science.gov (United States)

    Tian, Chao; Kosoy, Roman; Nassir, Rami; Lee, Annette; Villoslada, Pablo; Klareskog, Lars; Hammarström, Lennart; Garchon, Henri-Jean; Pulver, Ann E; Ransom, Michael; Gregersen, Peter K; Seldin, Michael F

    2009-01-01

    The definition of European population genetic substructure and its application to understanding complex phenotypes is becoming increasingly important. In the current study using over 4,000 subjects genotyped for 300,000 single-nucleotide polymorphisms (SNPs), we provide further insight into relationships among European population groups and identify sets of SNP ancestry informative markers (AIMs) for application in genetic studies. In general, the graphical description of these principal components analyses (PCA) of diverse European subjects showed a strong correspondence to the geographical relationships of specific countries or regions of origin. Clearer separation of different ethnic and regional populations was observed when northern and southern European groups were considered separately and the PCA results were influenced by the inclusion or exclusion of different self-identified population groups including Ashkenazi Jewish, Sardinian, and Orcadian ethnic groups. SNP AIM sets were identified that could distinguish the regional and ethnic population groups. Moreover, the studies demonstrated that most allele frequency differences between different European groups could be controlled effectively in analyses using these AIM sets. The European substructure AIMs should be widely applicable to ongoing studies to confirm and delineate specific disease susceptibility candidate regions without the necessity of performing additional genome-wide SNP studies in additional subject sets.

  4. Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations.

    Science.gov (United States)

    Yoneyama, S; Yao, J; Guo, X; Fernandez-Rhodes, L; Lim, U; Boston, J; Buzková, P; Carlson, C S; Cheng, I; Cochran, B; Cooper, R; Ehret, G; Fornage, M; Gong, J; Gross, M; Gu, C C; Haessler, J; Haiman, C A; Henderson, B; Hindorff, L A; Houston, D; Irvin, M R; Jackson, R; Kuller, L; Leppert, M; Lewis, C E; Li, R; Le Marchand, L; Matise, T C; Nguyen, K-Dh; Chakravarti, A; Pankow, J S; Pankratz, N; Pooler, L; Ritchie, M D; Bien, S A; Wassel, C L; Chen, Y-DI; Taylor, K D; Allison, M; Rotter, J I; Schreiner, P J; Schumacher, F; Wilkens, L; Boerwinkle, E; Kooperberg, C; Peters, U; Buyske, S; Graff, M; North, K E

    2017-02-01

    Central adiposity measures such as waist circumference (WC) and waist-to-hip ratio (WHR) are associated with cardiometabolic disorders independently of body mass index (BMI) and are gaining clinically utility. Several studies report genetic variants associated with central adiposity, but most utilize only European ancestry populations. Understanding whether the genetic associations discovered among mainly European descendants are shared with African ancestry populations will help elucidate the biological underpinnings of abdominal fat deposition. To identify the underlying functional genetic determinants of body fat distribution, we conducted an array-wide association meta-analysis among persons of African ancestry across seven studies/consortia participating in the Population Architecture using Genomics and Epidemiology (PAGE) consortium. We used the Metabochip array, designed for fine-mapping cardiovascular-associated loci, to explore novel array-wide associations with WC and WHR among 15 945 African descendants using all and sex-stratified groups. We further interrogated 17 known WHR regions for African ancestry-specific variants. Of the 17 WHR loci, eight single-nucleotide polymorphisms (SNPs) located in four loci were replicated in the sex-combined or sex-stratified meta-analyses. Two of these eight independently associated with WHR after conditioning on the known variant in European descendants (rs12096179 in TBX15-WARS2 and rs2059092 in ADAMTS9). In the fine-mapping assessment, the putative functional region was reduced across all four loci but to varying degrees (average 40% drop in number of putative SNPs and 20% drop in genomic region). Similar to previous studies, the significant SNPs in the female-stratified analysis were stronger than the significant SNPs from the sex-combined analysis. No novel associations were detected in the array-wide analyses. Of 17 previously identified loci, four loci replicated in the African ancestry populations of this

  5. ETHNOPRED: a novel machine learning method for accurate continental and sub-continental ancestry identification and population stratification correction

    Science.gov (United States)

    2013-01-01

    Background Population stratification is a systematic difference in allele frequencies between subpopulations. This can lead to spurious association findings in the case–control genome wide association studies (GWASs) used to identify single nucleotide polymorphisms (SNPs) associated with disease-linked phenotypes. Methods such as self-declared ancestry, ancestry informative markers, genomic control, structured association, and principal component analysis are used to assess and correct population stratification but each has limitations. We provide an alternative technique to address population stratification. Results We propose a novel machine learning method, ETHNOPRED, which uses the genotype and ethnicity data from the HapMap project to learn ensembles of disjoint decision trees, capable of accurately predicting an individual’s continental and sub-continental ancestry. To predict an individual’s continental ancestry, ETHNOPRED produced an ensemble of 3 decision trees involving a total of 10 SNPs, with 10-fold cross validation accuracy of 100% using HapMap II dataset. We extended this model to involve 29 disjoint decision trees over 149 SNPs, and showed that this ensemble has an accuracy of ≥ 99.9%, even if some of those 149 SNP values were missing. On an independent dataset, predominantly of Caucasian origin, our continental classifier showed 96.8% accuracy and improved genomic control’s λ from 1.22 to 1.11. We next used the HapMap III dataset to learn classifiers to distinguish European subpopulations (North-Western vs. Southern), East Asian subpopulations (Chinese vs. Japanese), African subpopulations (Eastern vs. Western), North American subpopulations (European vs. Chinese vs. African vs. Mexican vs. Indian), and Kenyan subpopulations (Luhya vs. Maasai). In these cases, ETHNOPRED produced ensembles of 3, 39, 21, 11, and 25 disjoint decision trees, respectively involving 31, 502, 526, 242 and 271 SNPs, with 10-fold cross validation accuracy of

  6. ETHNOPRED: a novel machine learning method for accurate continental and sub-continental ancestry identification and population stratification correction.

    Science.gov (United States)

    Hajiloo, Mohsen; Sapkota, Yadav; Mackey, John R; Robson, Paula; Greiner, Russell; Damaraju, Sambasivarao

    2013-02-22

    Population stratification is a systematic difference in allele frequencies between subpopulations. This can lead to spurious association findings in the case-control genome wide association studies (GWASs) used to identify single nucleotide polymorphisms (SNPs) associated with disease-linked phenotypes. Methods such as self-declared ancestry, ancestry informative markers, genomic control, structured association, and principal component analysis are used to assess and correct population stratification but each has limitations. We provide an alternative technique to address population stratification. We propose a novel machine learning method, ETHNOPRED, which uses the genotype and ethnicity data from the HapMap project to learn ensembles of disjoint decision trees, capable of accurately predicting an individual's continental and sub-continental ancestry. To predict an individual's continental ancestry, ETHNOPRED produced an ensemble of 3 decision trees involving a total of 10 SNPs, with 10-fold cross validation accuracy of 100% using HapMap II dataset. We extended this model to involve 29 disjoint decision trees over 149 SNPs, and showed that this ensemble has an accuracy of ≥ 99.9%, even if some of those 149 SNP values were missing. On an independent dataset, predominantly of Caucasian origin, our continental classifier showed 96.8% accuracy and improved genomic control's λ from 1.22 to 1.11. We next used the HapMap III dataset to learn classifiers to distinguish European subpopulations (North-Western vs. Southern), East Asian subpopulations (Chinese vs. Japanese), African subpopulations (Eastern vs. Western), North American subpopulations (European vs. Chinese vs. African vs. Mexican vs. Indian), and Kenyan subpopulations (Luhya vs. Maasai). In these cases, ETHNOPRED produced ensembles of 3, 39, 21, 11, and 25 disjoint decision trees, respectively involving 31, 502, 526, 242 and 271 SNPs, with 10-fold cross validation accuracy of 86.5% ± 2.4%, 95.6% ± 3

  7. The Consistencies of Y-Chromosomal and Autosomal Continental Ancestry Varying among Haplogroups

    OpenAIRE

    Chuan-Chao Wang; Lei Shang; Hui-Yuan Yeh; Lan-Hai Wei

    2016-01-01

    The Y-chromosome has been widely used in ancestry inference based on its region-specific haplogroup distributions. However, there is always a debate on how informative such a single marker is for inferring an individual's genetic ancestry. Here, we compared genetic ancestry inferences at continental level made by Y-chromosomal haplogroups to those made by autosomal single-nucleotide polymorphisms in 1230 samples of Affymetrix Human Origins dataset. The highest ancestry proportions of a majori...

  8. An ancestry informative marker set for determining continental origin: validation and extension using human genome diversity panels

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    Gregersen Peter K

    2009-07-01

    Full Text Available Abstract Background Case-control genetic studies of complex human diseases can be confounded by population stratification. This issue can be addressed using panels of ancestry informative markers (AIMs that can provide substantial population substructure information. Previously, we described a panel of 128 SNP AIMs that were designed as a tool for ascertaining the origins of subjects from Europe, Sub-Saharan Africa, Americas, and East Asia. Results In this study, genotypes from Human Genome Diversity Panel populations were used to further evaluate a 93 SNP AIM panel, a subset of the 128 AIMS set, for distinguishing continental origins. Using both model-based and relatively model-independent methods, we here confirm the ability of this AIM set to distinguish diverse population groups that were not previously evaluated. This study included multiple population groups from Oceana, South Asia, East Asia, Sub-Saharan Africa, North and South America, and Europe. In addition, the 93 AIM set provides population substructure information that can, for example, distinguish Arab and Ashkenazi from Northern European population groups and Pygmy from other Sub-Saharan African population groups. Conclusion These data provide additional support for using the 93 AIM set to efficiently identify continental subject groups for genetic studies, to identify study population outliers, and to control for admixture in association studies.

  9. Genetic Heterogeneity of Self-Reported Ancestry Groups in an Admixed Brazilian Population

    Science.gov (United States)

    Lins, Tulio C; Vieira, Rodrigo G; Abreu, Breno S; Gentil, Paulo; Moreno-Lima, Ricardo; Oliveira, Ricardo J; Pereira, Rinaldo W

    2011-01-01

    Background Population stratification is the main source of spurious results and poor reproducibility in genetic association findings. Population heterogeneity can be controlled for by grouping individuals in ethnic clusters; however, in admixed populations, there is evidence that such proxies do not provide efficient stratification control. The aim of this study was to evaluate the relation of self-reported with genetic ancestry and the statistical risk of grouping an admixed sample based on self-reported ancestry. Methods A questionnaire that included an item on self-reported ancestry was completed by 189 female volunteers from an admixed Brazilian population. Individual genetic ancestry was then determined by genotyping ancestry informative markers. Results Self-reported ancestry was classified as white, intermediate, and black. The mean difference among self-reported groups was significant for European and African, but not Amerindian, genetic ancestry. Pairwise fixation index analysis revealed a significant difference among groups. However, the increase in the chance of type 1 error was estimated to be 14%. Conclusions Self-reporting of ancestry was not an appropriate methodology to cluster groups in a Brazilian population, due to high variance at the individual level. Ancestry informative markers are more useful for quantitative measurement of biological ancestry. PMID:21498954

  10. CoAIMs: a cost-effective panel of ancestry informative markers for determining continental origins.

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    Eric R Londin

    Full Text Available BACKGROUND: Genetic ancestry is known to impact outcomes of genotype-phenotype studies that are designed to identify risk for common diseases in human populations. Failure to control for population stratification due to genetic ancestry can significantly confound results of disease association studies. Moreover, ancestry is a critical factor in assessing lifetime risk of disease, and can play an important role in optimizing treatment. As modern medicine moves towards using personal genetic information for clinical applications, it is important to determine genetic ancestry in an accurate, cost-effective and efficient manner. Self-identified race is a common method used to track and control for population stratification; however, social constructs of race are not necessarily informative for genetic applications. The use of ancestry informative markers (AIMs is a more accurate method for determining genetic ancestry for the purposes of population stratification. METHODOLOGY/PRINCIPAL FINDINGS: Here we introduce a novel panel of 36 microsatellite (MSAT AIMs that determines continental admixture proportions. This panel, which we have named Continental Ancestry Informative Markers or CoAIMs, consists of MSAT AIMs that were chosen based upon their measure of genetic variance (F(st, allele frequencies and their suitability for efficient genotyping. Genotype analysis using CoAIMs along with a Bayesian clustering method (STRUCTURE is able to discern continental origins including Europe/Middle East (Caucasians, East Asia, Africa, Native America, and Oceania. In addition to determining continental ancestry for individuals without significant admixture, we applied CoAIMs to ascertain admixture proportions of individuals of self declared race. CONCLUSION/SIGNIFICANCE: CoAIMs can be used to efficiently and effectively determine continental admixture proportions in a sample set. The CoAIMs panel is a valuable resource for genetic researchers performing case

  11. The genetic ancestry of African Americans, Latinos, and European Americans across the United States.

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    Bryc, Katarzyna; Durand, Eric Y; Macpherson, J Michael; Reich, David; Mountain, Joanna L

    2015-01-08

    Over the past 500 years, North America has been the site of ongoing mixing of Native Americans, European settlers, and Africans (brought largely by the trans-Atlantic slave trade), shaping the early history of what became the United States. We studied the genetic ancestry of 5,269 self-described African Americans, 8,663 Latinos, and 148,789 European Americans who are 23andMe customers and show that the legacy of these historical interactions is visible in the genetic ancestry of present-day Americans. We document pervasive mixed ancestry and asymmetrical male and female ancestry contributions in all groups studied. We show that regional ancestry differences reflect historical events, such as early Spanish colonization, waves of immigration from many regions of Europe, and forced relocation of Native Americans within the US. This study sheds light on the fine-scale differences in ancestry within and across the United States and informs our understanding of the relationship between racial and ethnic identities and genetic ancestry. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  12. Relationship between polycystic ovary syndrome and ancestry in European Americans.

    Science.gov (United States)

    Bjonnes, Andrew C; Saxena, Richa; Welt, Corrine K

    2016-12-01

    To determine whether European Americans with polycystic ovary syndrome (PCOS) exhibit genetic differences associated with PCOS status and phenotypic features. Case-control association study in European Americans. Academic center. Women with PCOS diagnosed with the use of the National Institutes of Health criteria (n = 532) and control women with regular menstrual cycles and no evidence of hyperandrogenism (n = 432). Blood was drawn for measurement of sex steroids, metabolic parameters, and genotyping. Associations among PCOS status, phenotype, and genetic background identified with the use of principal component analysis. Principal component analysis identified five principal components (PCs). PC1 captured northwest-to-southeast European genetic variation and was associated with PCOS status. Acanthosis was associated with southern European ancestry, and larger waist:hip ratio was associated with northern European ancestry. PC2 was associated with east-to-west European genetic variation and cholesterol levels. These data provide evidence for genetic influence based on European ethnicity in women with PCOS. There is also evidence for a genetic component in the phenotypic features of PCOS within a mixed European population. The data point to the need to control for population stratification in genetic studies in women of mixed European ethnicity. They also emphasize the need for better studies of PCOS prevalence and phenotype as a function of genetic background. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  13. European ancestry predominates in neuromyelitis optica and multiple sclerosis patients from Brazil.

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    Doralina Guimarães Brum

    Full Text Available BACKGROUND: Neuromyelitis optica (NMO is considered relatively more common in non-Whites, whereas multiple sclerosis (MS presents a high prevalence rate, particularly in Whites from Western countries populations. However, no study has used ancestry informative markers (AIMs to estimate the genetic ancestry contribution to NMO patients. METHODS: Twelve AIMs were selected based on the large allele frequency differences among European, African, and Amerindian populations, in order to investigate the genetic contribution of each ancestral group in 236 patients with MS and NMO, diagnosed using the McDonald and Wingerchuck criteria, respectively. All 128 MS patients were recruited at the Faculty of Medicine of Ribeirão Preto (MS-RP, Southeastern Brazil, as well as 108 healthy bone marrow donors considered as healthy controls. A total of 108 NMO patients were recruited from five Neurology centers from different Brazilian regions, including Ribeirão Preto (NMO-RP. PRINCIPAL FINDINGS: European ancestry contribution was higher in MS-RP than in NMO-RP (78.5% vs. 68.7% patients. In contrast, African ancestry estimates were higher in NMO-RP than in MS-RP (20.5% vs. 12.5% patients. Moreover, principal component analyses showed that groups of NMO patients from different Brazilian regions were clustered close to the European ancestral population. CONCLUSIONS: Our findings demonstrate that European genetic contribution predominates in NMO and MS patients from Brazil.

  14. Genetic Ancestry of Rapanui before and after European Contact.

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    Fehren-Schmitz, Lars; Jarman, Catrine L; Harkins, Kelly M; Kayser, Manfred; Popp, Brian N; Skoglund, Pontus

    2017-10-23

    The origins and lifeways of the inhabitants of Rapa Nui (Easter Island), a remote island in the southeast Pacific Ocean, have been debated for generations. Archaeological evidence substantiates the widely accepted view that the island was first settled by people of Polynesian origin, as late as 1200 CE [1-4]. What remains controversial, however, is the nature of events in the island's population history prior to the first historic contact with Europeans in 1722 CE. Purported contact between Rapa Nui and South America is particularly contentious, and recent studies have reported genetic evidence for Native American admixture in present-day indigenous inhabitants of Rapa Nui [5-8]. Statistical modeling has suggested that this genetic contribution might have occurred prior to European contact [6]. Here we directly test the hypothesis that the Native American admixture of the current Rapa Nui population predates the arrival of Europeans with a paleogenomic analysis of five individual samples excavated from Ahu Nau Nau, Anakena, dating to pre- and post-European contact, respectively. Complete mitochondrial genomes and low-coverage autosomal genomes show that the analyzed individuals fall within the genetic diversity of present-day and ancient Polynesians, and we can reject the hypothesis that any of these individuals had substantial Native American ancestry. Our data thus suggest that the Native American ancestry in contemporary Easter Islanders was not present on the island prior to European contact and may thus be due to events in more recent history. Copyright © 2017 Elsevier Ltd. All rights reserved.

  15. Developmental validation of mitochondrial DNA genotyping assays for adept matrilineal inference of biogeographic ancestry at a continental level.

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    Chaitanya, Lakshmi; van Oven, Mannis; Weiler, Natalie; Harteveld, Joyce; Wirken, Laura; Sijen, Titia; de Knijff, Peter; Kayser, Manfred

    2014-07-01

    Mitochondrial DNA (mtDNA) can be used for matrilineal biogeographic ancestry prediction and can thus provide investigative leads towards identifying unknown suspects, when conventional autosomal short tandem repeat (STR) profiling fails to provide a match. Recently, six multiplex genotyping assays targeting 62 ancestry-informative mitochondrial single nucleotide polymorphisms (mt-SNPs) were developed. This hierarchical system of assays allows detection of the major haplogroups present in Africa, America, Western Eurasia, Eastern Eurasia, Australia and Oceania, thus revealing the broad geographic region of matrilineal origin of a DNA donor. Here, we provide a forensic developmental validation study of five multiplex assays targeting all the 62 ancestry-informative mt-SNPs following the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines. We demonstrate that the assays are highly sensitive; being able to produce full profiles at input DNA amounts of as little as 1pg. The assays were shown to be highly robust and efficient in providing information from degraded samples and from simulated casework samples of different substrates such as blood, semen, hair, saliva and trace DNA samples. Reproducible results were successfully achieved from concordance testing across three independent laboratories depicting the ease and reliability of these assays. Overall, our results demonstrate the suitability of these five mt-SNP assays for application to forensic casework and other purposes aiming to establish an individual's matrilineal genetic ancestry. With this validated tool, it is now possible to determine the matrilineal biogeographic origin of unknown individuals on the level of continental resolution from forensic DNA samples to provide investigative leads in criminal and missing person cases where autosomal STR profiling is uninformative. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  16. The missing link of Jewish European ancestry: contrasting the Rhineland and the Khazarian hypotheses.

    Science.gov (United States)

    Elhaik, Eran

    2013-01-01

    The question of Jewish ancestry has been the subject of controversy for over two centuries and has yet to be resolved. The "Rhineland hypothesis" depicts Eastern European Jews as a "population isolate" that emerged from a small group of German Jews who migrated eastward and expanded rapidly. Alternatively, the "Khazarian hypothesis" suggests that Eastern European Jews descended from the Khazars, an amalgam of Turkic clans that settled the Caucasus in the early centuries CE and converted to Judaism in the 8th century. Mesopotamian and Greco-Roman Jews continuously reinforced the Judaized empire until the 13th century. Following the collapse of their empire, the Judeo-Khazars fled to Eastern Europe. The rise of European Jewry is therefore explained by the contribution of the Judeo-Khazars. Thus far, however, the Khazars' contribution has been estimated only empirically, as the absence of genome-wide data from Caucasus populations precluded testing the Khazarian hypothesis. Recent sequencing of modern Caucasus populations prompted us to revisit the Khazarian hypothesis and compare it with the Rhineland hypothesis. We applied a wide range of population genetic analyses to compare these two hypotheses. Our findings support the Khazarian hypothesis and portray the European Jewish genome as a mosaic of Near Eastern-Caucasus, European, and Semitic ancestries, thereby consolidating previous contradictory reports of Jewish ancestry. We further describe a major difference among Caucasus populations explained by the early presence of Judeans in the Southern and Central Caucasus. Our results have important implications for the demographic forces that shaped the genetic diversity in the Caucasus and for medical studies.

  17. Age at breast cancer diagnosis in populations of african and European ancestry.

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    Kadhel, Philippe; Multigner, Luc

    2014-01-01

    Based on US national cancer registry data, age differences at breast cancer diagnosis have been reported between African-American women and European-American women. Such differences between populations of African and European ancestry have not been studied in other countries at a nationwide level. Here, we report and compare descriptive nationwide epidemiological indicators of invasive breast cancer for the populations of European ancestry living in the US and in mainland France and for women of African ancestry living in the US and in the French West Indies (Martinique and Guadeloupe). Based on the available data, we determined age frequency distributions, world age-standardized incidence, and the distribution of expected cases of breast cancer in a standard population of women by age. The age frequency distributions revealed that women of African ancestry were younger at diagnosis than women of European ancestry. By contrast, compared with the US regardless of ancestry and mainland France, the standardized incidences appeared lower, and the largest numbers of expected cases younger, in the French West Indies. The populations with African ancestry were not homogeneous in terms of epidemiologic indicators of age-related breast cancer. These descriptive findings suggest that populations of African ancestry cannot be considered uniform when determining whether it would be appropriate to decrease the age of entry into screening programs for breast cancer. © 2014 Wiley Periodicals, Inc.

  18. A Comparative Analysis of Genetic Ancestry and Admixture in the Colombian Populations of Chocó and Medellín

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    Andrew B. Conley

    2017-10-01

    Full Text Available At least 20% of Colombians identify as having African ancestry, yielding the second largest population of Afro-descendants in Latin America. To date, there have been relatively few studies focused on the genetic ancestry of Afro-Latino populations. We report a comparative analysis of the genetic ancestry of Chocó, a state located on Colombia’s Pacific coast with a population that is >80% Afro-Colombian. We compared genome-wide patterns of genetic ancestry and admixture for Chocó to six other admixed American populations, with an emphasis on a Mestizo population from the nearby Colombian city of Medellín. One hundred sample donors from Chocó were genotyped across 610,545 genomic sites and compared with 94 publicly available whole genome sequences from Medellín. At the continental level, Chocó shows mostly African genetic ancestry (76% with a nearly even split between European (13% and Native American (11% fractions, whereas Medellín has primarily European ancestry (75%, followed by Native American (18% and African (7%. Sample donors from Chocó self-identify as having more African ancestry, and conversely less European and Native American ancestry, than can be genetically inferred, as opposed to what we previously found for Medellín, where individuals tend to overestimate levels of European ancestry. We developed a novel approach for subcontinental ancestry assignment, which allowed us to characterize subcontinental source populations for each of the three distinct continental ancestry fractions separately. Despite the clear differences between Chocó and Medellín at the level of continental ancestry, the two populations show overall patterns of subcontinental ancestry that are highly similar. Their African subcontinental ancestries are only slightly different, with Chocó showing more exclusive shared ancestry with the modern Yoruba (Nigerian population, and Medellín having relatively more shared ancestry with West African

  19. A Comparative Analysis of Genetic Ancestry and Admixture in the Colombian Populations of Chocó and Medellín.

    Science.gov (United States)

    Conley, Andrew B; Rishishwar, Lavanya; Norris, Emily T; Valderrama-Aguirre, Augusto; Mariño-Ramírez, Leonardo; Medina-Rivas, Miguel A; Jordan, I King

    2017-10-05

    At least 20% of Colombians identify as having African ancestry, yielding the second largest population of Afro-descendants in Latin America. To date, there have been relatively few studies focused on the genetic ancestry of Afro-Latino populations. We report a comparative analysis of the genetic ancestry of Chocó, a state located on Colombia's Pacific coast with a population that is >80% Afro-Colombian. We compared genome-wide patterns of genetic ancestry and admixture for Chocó to six other admixed American populations, with an emphasis on a Mestizo population from the nearby Colombian city of Medellín. One hundred sample donors from Chocó were genotyped across 610,545 genomic sites and compared with 94 publicly available whole genome sequences from Medellín. At the continental level, Chocó shows mostly African genetic ancestry (76%) with a nearly even split between European (13%) and Native American (11%) fractions, whereas Medellín has primarily European ancestry (75%), followed by Native American (18%) and African (7%). Sample donors from Chocó self-identify as having more African ancestry, and conversely less European and Native American ancestry, than can be genetically inferred, as opposed to what we previously found for Medellín, where individuals tend to overestimate levels of European ancestry. We developed a novel approach for subcontinental ancestry assignment, which allowed us to characterize subcontinental source populations for each of the three distinct continental ancestry fractions separately. Despite the clear differences between Chocó and Medellín at the level of continental ancestry, the two populations show overall patterns of subcontinental ancestry that are highly similar. Their African subcontinental ancestries are only slightly different, with Chocó showing more exclusive shared ancestry with the modern Yoruba (Nigerian) population, and Medellín having relatively more shared ancestry with West African populations in Sierra

  20. Differences in vaginal microbiome in African American women versus women of European ancestry.

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    Fettweis, Jennifer M; Brooks, J Paul; Serrano, Myrna G; Sheth, Nihar U; Girerd, Philippe H; Edwards, David J; Strauss, Jerome F; The Vaginal Microbiome Consortium; Jefferson, Kimberly K; Buck, Gregory A

    2014-10-01

    Women of European ancestry are more likely to harbour a Lactobacillus-dominated microbiome, whereas African American women are more likely to exhibit a diverse microbial profile. African American women are also twice as likely to be diagnosed with bacterial vaginosis and are twice as likely to experience preterm birth. The objective of this study was to further characterize and contrast the vaginal microbial profiles in African American versus European ancestry women. Through the Vaginal Human Microbiome Project at Virginia Commonwealth University, 16S rRNA gene sequence analysis was used to compare the microbiomes of vaginal samples from 1268 African American women and 416 women of European ancestry. The results confirmed significant differences in the vaginal microbiomes of the two groups and identified several taxa relevant to these differences. Major community types were dominated by Gardnerella vaginalis and the uncultivated bacterial vaginosis-associated bacterium-1 (BVAB1) that were common among African Americans. Moreover, the prevalence of multiple bacterial taxa that are associated with microbial invasion of the amniotic cavity and preterm birth, including Mycoplasma, Gardnerella, Prevotella and Sneathia, differed between the two ethnic groups. We investigated the contributions of intrinsic and extrinsic factors, including pregnancy, body mass index, diet, smoking and alcohol use, number of sexual partners, and household income, to vaginal community composition. Ethnicity, pregnancy and alcohol use correlated significantly with the relative abundance of bacterial vaginosis-associated species. Trends between microbial profiles and smoking and number of sexual partners were observed; however, these associations were not statistically significant. These results support and extend previous findings that there are significant differences in the vaginal microbiome related to ethnicity and demonstrate that these differences are pronounced even in healthy women

  1. Analysis of ancestry informative markers in three main ethnic groups from Ecuador supports a trihybrid origin of Ecuadorians

    DEFF Research Database (Denmark)

    Santangelo, Roberta; González-Andrade, Fabricio; Børsting, Claus

    2017-01-01

    of an individual. Due to the growing interest in AIMs and their applicability in different fields, commercial companies have started to develop AIM multiplexes targeted for Massive Parallel Sequencing platforms. This project focused on the study of three main ethnic groups from Ecuador (Kichwa, Mestizo, and Afro....... The Kichwa showed the highest proportion of Native Amerindian (NAM) ancestry relative to the other two groups. The Mestizo had an admixed ancestry of NAM and European with a larger European component, whereas the Afro-Ecuadorian were highly admixed presenting proportions of African, Native Amerindian...

  2. The utility of empirically assigning ancestry groups in cross-population genetic studies of addiction.

    Science.gov (United States)

    Peterson, Roseann E; Edwards, Alexis C; Bacanu, Silviu-Alin; Dick, Danielle M; Kendler, Kenneth S; Webb, Bradley T

    2017-08-01

    Given moderate heritability and significant heterogeneity among addiction phenotypes, successful genome-wide association studies (GWAS) are expected to need very large samples. As sample sizes grow, so can genetic diversity leading to challenges in analyzing these data. Methods for empirically assigning individuals to genetically informed ancestry groups are needed. We describe a strategy for empirically assigning ancestry groups in ethnically diverse GWAS data including extensions of principal component analysis (PCA) and population matching through minimum Mahalanobis distance. We apply these methods to data from Spit for Science (S4S): the University Student Survey, a study following college students longitudinally that includes genetic and environmental data on substance use and mental health (n = 7,603). The genetic-based population assignments for S4S were 48.7% European, 22.5% African, 10.4% Americas, 9.2% East Asian, and 9.2% South Asian descent. Self-reported census categories "More than one race" and "Unknown"as well as "Hawaiian/Pacific Islander" and "American-Indian/Native Alaskan" were empirically assigned representing a +9% sample retention over conventional methods. Although there was high concordance between self-reported race and empirical population-match (+.924), there was reduction in variance for most ancestry PCs for genetic-based population assignments. We were able to create more genetically homogenous groups and reduce sample and marker loss through cross-ancestry meta-analysis, potentially increasing power to detect etiologically relevant variation. Our approach provides a framework for empirically assigning genetic ancestry groups which can be applied to other ethnically diverse genetic studies. Given the important public health impact and demonstrable gains in statistical power from studying diverse populations, empirically sound practices for genetic studies are needed. (Am J Addict 2017;26:494-501). © 2017 American Academy of

  3. Degree of European Genetic Ancestry is Associated with Serum Vitamin D Levelsin African Americans.

    Science.gov (United States)

    Haddad, Stephen A; Ruiz-Narváez, Edward A; Cozier, Yvette C; Gerlovin, Hanna; Rosenberg, Lynn; Palmer, Julie R

    2018-01-30

    Circulating levels of vitamin D are generally lower in African Americans compared to U.S. whites, and one prior analysis in a small number of African Americans suggested that, within this population, vitamin D levels may be related to the degree of genetic admixture. We assessed the association of percent European ancestry with serum vitamin D levels in 2183 African American women from the Black Women's Health Study in 2013-2015, whose DNA had been genotyped for ancestry informative markers. ADMIXMAP software was used to estimate percent European versus African ancestry in each individual. In linear regression analyses with adjustment for genotype batch, age, body mass index, supplemental vitamin D use, UVB flux in state of residence, and season of blood draw, each 10% increase in European ancestry was associated with a 0.672 ng/mL increase in serum vitamin D concentration (95% confidence interval 0.173, 1.170). The association was statistically significant only among women who were not taking vitamin D supplements (beta coefficient for 10% increase in European ancestry 0.855, 95% confidence interval 0.139, 1.571). Among African Americans, use of vitamin D supplementation may help to reduce vitamin D deficiency due to genetic ancestry. © The Author(s) 2018. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  4. European ancestry is positively associated with breast cancer risk in Mexican women.

    Science.gov (United States)

    Fejerman, Laura; Romieu, Isabelle; John, Esther M; Lazcano-Ponce, Eduardo; Huntsman, Scott; Beckman, Kenneth B; Pérez-Stable, Eliseo J; González Burchard, Esteban; Ziv, Elad; Torres-Mejía, Gabriela

    2010-04-01

    The incidence of breast cancer is 35% lower in Hispanic women living in the San Francisco Bay Area than in non-Hispanic White women. We have previously described a significant association between genetic ancestry and risk for breast cancer in a sample of U.S. Hispanics/Latinas. We retested the association in women residing in Mexico because of the possibility that the original finding may be confounded by U.S. specific unmeasured environmental exposures. We genotyped a set of 106 ancestry informative markers in 846 Mexican women with breast cancer and 1,035 unaffected controls and estimated genetic ancestry using a maximum likelihood method. Odds ratios and 95% confidence intervals (95% CI) for ancestry modeled as a categorical and continuous variable were estimated using logistic regression and adjusted for reproductive and other known risk factors. Greater European ancestry was associated with increased breast cancer risk in this new and independent sample of Mexican women residing in Mexico. Compared with women with 0% to 25% European ancestry, the risk was increased for women with 51% to 75% and 76% to 100% European ancestry [odds ratios, 1.35 (95% CI, 0.96-1.91) and 2.44 (95% CI, 0.94-6.35), respectively; P for trend = 0.044]. For every 25% increase in European ancestry (modeled as a continuous variable), there was a 20% increase in risk for breast cancer (95% CI, 1.03-1.41; P = 0.019). These results suggest that nongenetic factors play a crucial role in explaining the difference in breast cancer incidence between Latinas and non-Latina White women, and it also points out to the possibility of a genetic component to this difference.

  5. A Meta-analysis of Multiple Myeloma Risk Regions in African and European Ancestry Populations Identifies Putatively Functional Loci.

    Science.gov (United States)

    Rand, Kristin A; Song, Chi; Dean, Eric; Serie, Daniel J; Curtin, Karen; Sheng, Xin; Hu, Donglei; Huff, Carol Ann; Bernal-Mizrachi, Leon; Tomasson, Michael H; Ailawadhi, Sikander; Singhal, Seema; Pawlish, Karen; Peters, Edward S; Bock, Cathryn H; Stram, Alex; Van Den Berg, David J; Edlund, Christopher K; Conti, David V; Zimmerman, Todd; Hwang, Amie E; Huntsman, Scott; Graff, John; Nooka, Ajay; Kong, Yinfei; Pregja, Silvana L; Berndt, Sonja I; Blot, William J; Carpten, John; Casey, Graham; Chu, Lisa; Diver, W Ryan; Stevens, Victoria L; Lieber, Michael R; Goodman, Phyllis J; Hennis, Anselm J M; Hsing, Ann W; Mehta, Jayesh; Kittles, Rick A; Kolb, Suzanne; Klein, Eric A; Leske, Cristina; Murphy, Adam B; Nemesure, Barbara; Neslund-Dudas, Christine; Strom, Sara S; Vij, Ravi; Rybicki, Benjamin A; Stanford, Janet L; Signorello, Lisa B; Witte, John S; Ambrosone, Christine B; Bhatti, Parveen; John, Esther M; Bernstein, Leslie; Zheng, Wei; Olshan, Andrew F; Hu, Jennifer J; Ziegler, Regina G; Nyante, Sarah J; Bandera, Elisa V; Birmann, Brenda M; Ingles, Sue A; Press, Michael F; Atanackovic, Djordje; Glenn, Martha J; Cannon-Albright, Lisa A; Jones, Brandt; Tricot, Guido; Martin, Thomas G; Kumar, Shaji K; Wolf, Jeffrey L; Deming Halverson, Sandra L; Rothman, Nathaniel; Brooks-Wilson, Angela R; Rajkumar, S Vincent; Kolonel, Laurence N; Chanock, Stephen J; Slager, Susan L; Severson, Richard K; Janakiraman, Nalini; Terebelo, Howard R; Brown, Elizabeth E; De Roos, Anneclaire J; Mohrbacher, Ann F; Colditz, Graham A; Giles, Graham G; Spinelli, John J; Chiu, Brian C; Munshi, Nikhil C; Anderson, Kenneth C; Levy, Joan; Zonder, Jeffrey A; Orlowski, Robert Z; Lonial, Sagar; Camp, Nicola J; Vachon, Celine M; Ziv, Elad; Stram, Daniel O; Hazelett, Dennis J; Haiman, Christopher A; Cozen, Wendy

    2016-12-01

    Genome-wide association studies (GWAS) in European populations have identified genetic risk variants associated with multiple myeloma. We performed association testing of common variation in eight regions in 1,318 patients with multiple myeloma and 1,480 controls of European ancestry and 1,305 patients with multiple myeloma and 7,078 controls of African ancestry and conducted a meta-analysis to localize the signals, with epigenetic annotation used to predict functionality. We found that variants in 7p15.3, 17p11.2, 22q13.1 were statistically significantly (P < 0.05) associated with multiple myeloma risk in persons of African ancestry and persons of European ancestry, and the variant in 3p22.1 was associated in European ancestry only. In a combined African ancestry-European ancestry meta-analysis, variation in five regions (2p23.3, 3p22.1, 7p15.3, 17p11.2, 22q13.1) was statistically significantly associated with multiple myeloma risk. In 3p22.1, the correlated variants clustered within the gene body of ULK4 Correlated variants in 7p15.3 clustered around an enhancer at the 3' end of the CDCA7L transcription termination site. A missense variant at 17p11.2 (rs34562254, Pro251Leu, OR, 1.32; P = 2.93 × 10-7) in TNFRSF13B encodes a lymphocyte-specific protein in the TNF receptor family that interacts with the NF-κB pathway. SNPs correlated with the index signal in 22q13.1 cluster around the promoter and enhancer regions of CBX7 CONCLUSIONS: We found that reported multiple myeloma susceptibility regions contain risk variants important across populations, supporting the use of multiple racial/ethnic groups with different underlying genetic architecture to enhance the localization and identification of putatively functional alleles. A subset of reported risk loci for multiple myeloma has consistent effects across populations and is likely to be functional. Cancer Epidemiol Biomarkers Prev; 25(12); 1609-18. ©2016 AACR. ©2016 American Association for Cancer Research.

  6. Inference of human continental origin and admixture proportions using a highly discriminative ancestry informative 41-SNP panel.

    Science.gov (United States)

    Nievergelt, Caroline M; Maihofer, Adam X; Shekhtman, Tatyana; Libiger, Ondrej; Wang, Xudong; Kidd, Kenneth K; Kidd, Judith R

    2013-07-01

    Accurate determination of genetic ancestry is of high interest for many areas such as biomedical research, personal genomics and forensics. It remains an important topic in genetic association studies, as it has been shown that population stratification, if not appropriately considered, can lead to false-positive and -negative results. While large association studies typically extract ancestry information from available genome-wide SNP genotypes, many important clinical data sets on rare phenotypes and historical collections assembled before the GWAS area are in need of a feasible method (i.e., ease of genotyping, small number of markers) to infer the geographic origin and potential admixture of the study subjects. Here we report on the development, application and limitations of a small, multiplexable ancestry informative marker (AIM) panel of SNPs (or AISNP) developed specifically for this purpose. Based on worldwide populations from the HGDP, a 41-AIM AISNP panel for multiplex application with the ABI SNPlex and a subset with 31 AIMs for the Sequenome iPLEX system were selected and found to be highly informative for inferring ancestry among the seven continental regions Africa, the Middle East, Europe, Central/South Asia, East Asia, the Americas and Oceania. The panel was found to be least informative for Eurasian populations, and additional AIMs for a higher resolution are suggested. A large reference set including over 4,000 subjects collected from 120 global populations was assembled to facilitate accurate ancestry determination. We show practical applications of this AIM panel, discuss its limitations for admixed individuals and suggest ways to incorporate ancestry information into genetic association studies. We demonstrated the utility of a small AISNP panel specifically developed to discern global ancestry. We believe that it will find wide application because of its feasibility and potential for a wide range of applications.

  7. Higher Levels of Neanderthal Ancestry in East Asians than in Europeans

    Science.gov (United States)

    Wall, Jeffrey D.; Yang, Melinda A.; Jay, Flora; Kim, Sung K.; Durand, Eric Y.; Stevison, Laurie S.; Gignoux, Christopher; Woerner, August; Hammer, Michael F.; Slatkin, Montgomery

    2013-01-01

    Neanderthals were a group of archaic hominins that occupied most of Europe and parts of Western Asia from ∼30,000 to 300,000 years ago (KYA). They coexisted with modern humans during part of this time. Previous genetic analyses that compared a draft sequence of the Neanderthal genome with genomes of several modern humans concluded that Neanderthals made a small (1–4%) contribution to the gene pools of all non-African populations. This observation was consistent with a single episode of admixture from Neanderthals into the ancestors of all non-Africans when the two groups coexisted in the Middle East 50–80 KYA. We examined the relationship between Neanderthals and modern humans in greater detail by applying two complementary methods to the published draft Neanderthal genome and an expanded set of high-coverage modern human genome sequences. We find that, consistent with the recent finding of Meyer et al. (2012), Neanderthals contributed more DNA to modern East Asians than to modern Europeans. Furthermore we find that the Maasai of East Africa have a small but significant fraction of Neanderthal DNA. Because our analysis is of several genomic samples from each modern human population considered, we are able to document the extent of variation in Neanderthal ancestry within and among populations. Our results combined with those previously published show that a more complex model of admixture between Neanderthals and modern humans is necessary to account for the different levels of Neanderthal ancestry among human populations. In particular, at least some Neanderthal–modern human admixture must postdate the separation of the ancestors of modern European and modern East Asian populations. PMID:23410836

  8. Higher levels of neanderthal ancestry in East Asians than in Europeans.

    Science.gov (United States)

    Wall, Jeffrey D; Yang, Melinda A; Jay, Flora; Kim, Sung K; Durand, Eric Y; Stevison, Laurie S; Gignoux, Christopher; Woerner, August; Hammer, Michael F; Slatkin, Montgomery

    2013-05-01

    Neanderthals were a group of archaic hominins that occupied most of Europe and parts of Western Asia from ∼30,000 to 300,000 years ago (KYA). They coexisted with modern humans during part of this time. Previous genetic analyses that compared a draft sequence of the Neanderthal genome with genomes of several modern humans concluded that Neanderthals made a small (1-4%) contribution to the gene pools of all non-African populations. This observation was consistent with a single episode of admixture from Neanderthals into the ancestors of all non-Africans when the two groups coexisted in the Middle East 50-80 KYA. We examined the relationship between Neanderthals and modern humans in greater detail by applying two complementary methods to the published draft Neanderthal genome and an expanded set of high-coverage modern human genome sequences. We find that, consistent with the recent finding of Meyer et al. (2012), Neanderthals contributed more DNA to modern East Asians than to modern Europeans. Furthermore we find that the Maasai of East Africa have a small but significant fraction of Neanderthal DNA. Because our analysis is of several genomic samples from each modern human population considered, we are able to document the extent of variation in Neanderthal ancestry within and among populations. Our results combined with those previously published show that a more complex model of admixture between Neanderthals and modern humans is necessary to account for the different levels of Neanderthal ancestry among human populations. In particular, at least some Neanderthal-modern human admixture must postdate the separation of the ancestors of modern European and modern East Asian populations.

  9. Alcohol dependence and reproductive timing in African and European ancestry women: findings in a midwestern twin cohort.

    Science.gov (United States)

    Waldron, Mary; Bucholz, Kathleen K; Madden, Pamela A F; Duncan, Alexis E; Sartor, Carolyn E; Heath, Andrew C

    2014-03-01

    We examined associations between reproductive onset and history of alcohol dependence (AD) in 475 African ancestry (AA) and 2,865 European or other ancestry (EA) female twins. Participants were drawn from a U.S. midwestern birth cohort study of like-sex female twin pairs born between 1975 and 1985, ages 21-32 as of last completed assessment. Cox proportional hazards regression models were estimated predicting age at first childbirth from history of AD, separately by race/ethnicity, without and with adjustment for sociodemographic characteristics, body mass index, history of other substance involvement, psychopathology, and family and childhood risks. Among EA twins, AD predicted early childbearing through age 17 and delayed childbearing from age 25 onward; in adjusted models, AD was associated with overall delayed childbearing. Among AA twins, reproductive timing and AD were not significantly related in either unadjusted or adjusted models. Findings for twins of European ancestry are consistent with well-documented links between early alcohol mis/use and teenage parenting as well as delays in childbearing associated with drinking-related reproductive and relationship difficulties. Extension of analyses to other racial/ethnic groups of sufficient sample size remains important.

  10. Genetic ancestry, self-reported race and ethnicity in African Americans and European Americans in the PCaP cohort.

    Directory of Open Access Journals (Sweden)

    Lara E Sucheston

    Full Text Available Family history and African-American race are important risk factors for both prostate cancer (CaP incidence and aggressiveness. When studying complex diseases such as CaP that have a heritable component, chances of finding true disease susceptibility alleles can be increased by accounting for genetic ancestry within the population investigated. Race, ethnicity and ancestry were studied in a geographically diverse cohort of men with newly diagnosed CaP.Individual ancestry (IA was estimated in the population-based North Carolina and Louisiana Prostate Cancer Project (PCaP, a cohort of 2,106 incident CaP cases (2063 with complete ethnicity information comprising roughly equal numbers of research subjects reporting as Black/African American (AA or European American/Caucasian/Caucasian American/White (EA from North Carolina or Louisiana. Mean genome wide individual ancestry estimates of percent African, European and Asian were obtained and tested for differences by state and ethnicity (Cajun and/or Creole and Hispanic/Latino using multivariate analysis of variance models. Principal components (PC were compared to assess differences in genetic composition by self-reported race and ethnicity between and within states.Mean individual ancestries differed by state for self-reporting AA (p = 0.03 and EA (p = 0.001. This geographic difference attenuated for AAs who answered "no" to all ethnicity membership questions (non-ethnic research subjects; p = 0.78 but not EA research subjects, p = 0.002. Mean ancestry estimates of self-identified AA Louisiana research subjects for each ethnic group; Cajun only, Creole only and both Cajun and Creole differed significantly from self-identified non-ethnic AA Louisiana research subjects. These ethnicity differences were not seen in those who self-identified as EA.Mean IA differed by race between states, elucidating a potential contributing factor to these differences in AA research participants: self-reported ethnicity

  11. Neanderthal ancestry drives evolution of lipid catabolism in contemporary Europeans

    Science.gov (United States)

    Khrameeva, Ekaterina E.; Bozek, Katarzyna; He, Liu; Yan, Zheng; Jiang, Xi; Wei, Yuning; Tang, Kun; Gelfand, Mikhail S.; Prufer, Kay; Kelso, Janet; Paabo, Svante; Giavalisco, Patrick; Lachmann, Michael; Khaitovich, Philipp

    2014-01-01

    Although Neanderthals are extinct, fragments of their genomes persist in contemporary humans. Here we show that while the genome-wide frequency of Neanderthal-like sites is approximately constant across all contemporary out-of-Africa populations, genes involved in lipid catabolism contain more than threefold excess of such sites in contemporary humans of European descent. Evolutionally, these genes show significant association with signatures of recent positive selection in the contemporary European, but not Asian or African populations. Functionally, the excess of Neanderthal-like sites in lipid catabolism genes can be linked with a greater divergence of lipid concentrations and enzyme expression levels within this pathway, seen in contemporary Europeans, but not in the other populations. We conclude that sequence variants that evolved in Neanderthals may have given a selective advantage to anatomically modern humans that settled in the same geographical areas. PMID:24690587

  12. Neanderthal ancestry drives evolution of lipid catabolism in contemporary Europeans.

    Science.gov (United States)

    Khrameeva, Ekaterina E; Bozek, Katarzyna; He, Liu; Yan, Zheng; Jiang, Xi; Wei, Yuning; Tang, Kun; Gelfand, Mikhail S; Prufer, Kay; Kelso, Janet; Paabo, Svante; Giavalisco, Patrick; Lachmann, Michael; Khaitovich, Philipp

    2014-04-01

    Although Neanderthals are extinct, fragments of their genomes persist in contemporary humans. Here we show that while the genome-wide frequency of Neanderthal-like sites is approximately constant across all contemporary out-of-Africa populations, genes involved in lipid catabolism contain more than threefold excess of such sites in contemporary humans of European descent. Evolutionally, these genes show significant association with signatures of recent positive selection in the contemporary European, but not Asian or African populations. Functionally, the excess of Neanderthal-like sites in lipid catabolism genes can be linked with a greater divergence of lipid concentrations and enzyme expression levels within this pathway, seen in contemporary Europeans, but not in the other populations. We conclude that sequence variants that evolved in Neanderthals may have given a selective advantage to anatomically modern humans that settled in the same geographical areas.

  13. Genotypic and allelic variability in CYP19A1 among populations of African and European ancestry.

    Directory of Open Access Journals (Sweden)

    Athena Starlard-Davenport

    Full Text Available CYP19A1 facilitates the bioconversion of estrogens from androgens. CYP19A1 intron single nucleotide polymorphisms (SNPs may alter mRNA splicing, resulting in altered CYP19A1 activity, and potentially influencing disease susceptibility. Genetic studies of CYP19A1 SNPs have been well documented in populations of European ancestry; however, studies in populations of African ancestry are limited. In the present study, ten 'candidate' intronic SNPs in CYP19A1 from 125 African Americans (AA and 277 European Americans (EA were genotyped and their frequencies compared. Allele frequencies were also compared with HapMap and ASW 1000 Genomes populations. We observed significant differences in the minor allele frequencies between AA and EA in six of the ten SNPs including rs10459592 (p<0.0001, rs12908960 (p<0.0001, rs1902584 (p = 0.016, rs2470144 (p<0.0001, rs1961177 (p<0.0001, and rs6493497 (p = 0.003. While there were no significant differences in allele frequencies between EA and CEU in the HapMap population, a 1.2- to 19-fold difference in allele frequency for rs10459592 (p = 0.004, rs12908960 (p = 0.0006, rs1902584 (p<0.0001, rs2470144 (p = 0.0006, rs1961177 (p<0.0001, and rs6493497 (p = 0.0092 was observed between AA and the Yoruba (YRI population. Linkage disequilibrium (LD blocks and haplotype clusters that is unique to the EA population but not AA was also observed. In summary, we demonstrate that differences in the allele frequencies of CYP19A1 intron SNPs are not consistent between populations of African and European ancestry. Thus, investigations into whether CYP19A1 intron SNPs contribute to variations in cancer incidence, outcomes and pharmacological response seen in populations of different ancestry may prove beneficial.

  14. Developing a set of ancestry-sensitive DNA markers reflecting continental origins of humans

    NARCIS (Netherlands)

    P. Kersbergen (Paula); K. van Duijn (Kate); A. Kloosterman (Ate); J.T. den Dunnen (Johan); M.H. Kayser (Manfred); P. de Knijff (Peter)

    2009-01-01

    textabstractBackground: The identification and use of Ancestry-Sensitive Markers (ASMs), i.e. genetic polymorphisms facilitating the genetic reconstruction of geographical origins of individuals, is far from straightforward. Results: Here we describe the ascertainment and application of five

  15. Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry.

    Science.gov (United States)

    Welt, Corrine K; Styrkarsdottir, Unnur; Ehrmann, David A; Thorleifsson, Gudmar; Arason, Gudmundur; Gudmundsson, Jens A; Ober, Carole; Rosenfield, Robert L; Saxena, Richa; Thorsteinsdottir, Unnur; Crowley, William F; Stefansson, Kari

    2012-07-01

    A genome-wide association study has identified three loci (five independent signals) that confer risk for polycystic ovary syndrome (PCOS) in Han Chinese women. Replication is necessary to determine whether the same variants confer risk for PCOS in women of European ancestry. The objective of the study was to test whether these PCOS risk variants in Han Chinese women confer risk for PCOS in women of European ancestry. This was a case-control study. The study was conducted at deCODE Genetics in Iceland and two academic medical centers in the United States. Cases were 376 Icelandic women and 565 and 203 women from Boston, MA, and Chicago, IL, respectively, all diagnosed with PCOS by the National Institutes of Health criteria. Controls were 16,947, 483, and 189 women not known to have PCOS from Iceland, Boston, and Chicago, respectively. There were no interventions. Main outcomes were allele frequencies for seven variants in PCOS cases and controls. Two strongly correlated Han Chinese PCOS risk variants on chromosome 9q33.3, rs10986105[C], and rs10818854[A], were replicated in samples of European ancestry with odds ratio of 1.68 (P = 0.00033) and odds ratio of 1.53 (P = 0.0019), respectively. Other risk variants at 2p16.3 (rs13405728), 2p21 (rs12468394, rs12478601, and rs13429458), and 9q33.3 (rs2479106), or variants correlated with them, did not associate with PCOS. The same allele of rs10986105 that increased the risk of PCOS also increased the risk of hyperandrogenism in women without PCOS from Iceland and demonstrated a stronger risk for PCOS defined by the National Institutes of Health criteria than the Rotterdam criteria. We replicated one of the five Chinese PCOS association signals, represented by rs10986105 and rs10818854 on 9q33, in individuals of European ancestry. Examination of the subjects meeting at least one of the Rotterdam criteria for PCOS suggests that the variant may be involved in the hyperandrogenism and possibly the irregular menses of PCOS.

  16. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... Testing What is genetic ancestry testing? What is genetic ancestry testing? Genetic ancestry testing, or genetic genealogy, ... mixed with other groups. For more information about genetic ancestry testing: The University of Utah provides video ...

  17. Differential methylation between ethnic sub-groups reflects the effect of genetic ancestry and environmental exposures

    Science.gov (United States)

    Galanter, Joshua M; Gignoux, Christopher R; Oh, Sam S; Torgerson, Dara; Pino-Yanes, Maria; Thakur, Neeta; Eng, Celeste; Hu, Donglei; Huntsman, Scott; Farber, Harold J; Avila, Pedro C; Brigino-Buenaventura, Emerita; LeNoir, Michael A; Meade, Kelly; Serebrisky, Denise; Rodríguez-Cintrón, William; Kumar, Rajesh; Rodríguez-Santana, Jose R; Seibold, Max A; Borrell, Luisa N; Burchard, Esteban G; Zaitlen, Noah

    2017-01-01

    Populations are often divided categorically into distinct racial/ethnic groups based on social rather than biological constructs. Genetic ancestry has been suggested as an alternative to this categorization. Herein, we typed over 450,000 CpG sites in whole blood of 573 individuals of diverse Hispanic origin who also had high-density genotype data. We found that both self-identified ethnicity and genetically determined ancestry were each significantly associated with methylation levels at 916 and 194 CpGs, respectively, and that shared genomic ancestry accounted for a median of 75.7% (IQR 45.8% to 92%) of the variance in methylation associated with ethnicity. There was a significant enrichment (p=4.2×10-64) of ethnicity-associated sites amongst loci previously associated environmental exposures, particularly maternal smoking during pregnancy. We conclude that differential methylation between ethnic groups is partially explained by the shared genetic ancestry but that environmental factors not captured by ancestry significantly contribute to variation in methylation. DOI: http://dx.doi.org/10.7554/eLife.20532.001 PMID:28044981

  18. Selection and reduced population size cannot explain higher amounts of Neandertal ancestry in East Asian than in European human populations.

    Science.gov (United States)

    Kim, Bernard Y; Lohmueller, Kirk E

    2015-03-05

    It has been hypothesized that the greater proportion of Neandertal ancestry in East Asians than in Europeans is due to the fact that purifying selection is less effective at removing weakly deleterious Neandertal alleles from East Asian populations. Using simulations of a broad range of models of selection and demography, we have shown that this hypothesis cannot account for the higher proportion of Neandertal ancestry in East Asians than in Europeans. Instead, more complex demographic scenarios, most likely involving multiple pulses of Neandertal admixture, are required to explain the data. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  19. Evaluation of group genetic ancestry of populations from Philadelphia and Dakar in the context of sex-biased admixture in the Americas.

    Directory of Open Access Journals (Sweden)

    Klara Stefflova

    2009-11-01

    Full Text Available Population history can be reflected in group genetic ancestry, where genomic variation captured by the mitochondrial DNA (mtDNA and non-recombining portion of the Y chromosome (NRY can separate female- and male-specific admixture processes. Genetic ancestry may influence genetic association studies due to differences in individual admixture within recently admixed populations like African Americans.We evaluated the genetic ancestry of Senegalese as well as European Americans and African Americans from Philadelphia. Senegalese mtDNA consisted of approximately 12% U haplotypes (U6 and U5b1b haplotypes, common in North Africa while the NRY haplotypes belonged solely to haplogroup E. In Philadelphia, we observed varying degrees of admixture. While African Americans have 9-10% mtDNAs and approximately 31% NRYs of European origin, these results are not mirrored in the mtDNA/NRY pools of European Americans: they have less than 7% mtDNAs and less than 2% NRYs from non-European sources. Additionally, there is <2% Native American contribution to Philadelphian African American ancestry and the admixture from combined mtDNA/NRY estimates is consistent with the admixture derived from autosomal genetic data. To further dissect these estimates, we have analyzed our samples in the context of different demographic groups in the Americas.We found that sex-biased admixture in African-derived populations is present throughout the Americas, with continual influence of European males, while Native American females contribute mainly to populations of the Caribbean and South America. The high non-European female contribution to the pool of European-derived populations is consistently characteristic of Iberian colonization. These data suggest that genomic data correlate well with historical records of colonization in the Americas.

  20. Associations of Adiponectin with Individual European Ancestry in African Americans: the Jackson Heart Study

    Directory of Open Access Journals (Sweden)

    Aurelian eBidulescu

    2014-02-01

    Full Text Available Background: Compared with European Americans, African Americans (AA exhibit lower levels of the cardio-metabolically protective adiponectin even after accounting for adiposity measures. Because few studies have examined in AA the association between adiponectin and genetic admixture, a dense panel of ancestry informative markers (AIMs was used to estimate the individual proportions of European ancestry (PEA for the African Americans enrolled in a large community-based cohort, the Jackson Heart Study (JHS. We tested the hypothesis that plasma adiponectin and PEA are directly associated and assessed the interaction with a series of cardio-metabolic risk factors.Methods: Plasma specimens from 1,439 JHS participants were analyzed by ELISA for adiponectin levels. Using pseudo-ancestral population genotype data from the HapMap Consortium, PEA was estimated with a panel of up to 1,447 genome-wide preselected AIMs by a maximum likelihood approach. Interaction assessment, stepwise linear and cubic multivariable-adjusted regression models were used to analyze the cross-sectional association between adiponectin and PEA.Results: Among the study participants (62% women; mean age 48 ± 12 years, the median (interquartile range of PEA was 15.8 (9.3%. Body mass index (p = 0.04 and insulin resistance (p = 0.0001 modified the association between adiponectin and PEA. Adiponectin was directly and linearly associated with PEA (β = 0.62 ± 0.28, p = 0.03 among non-obese (n = 673 and insulin sensitive participants (n = 1,141; β = 0.74 ± 0.23, p = 0.001, but not among those obese or with insulin resistance. No threshold effect was detected for non-obese participants.Conclusions: In a large African American population, the individual proportion of European ancestry was linearly and directly associated with plasma adiponectin among non-obese and non insulin-resistant participants, pointing to the interaction of genetic and metabolic factors influencing adiponectin

  1. Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry

    DEFF Research Database (Denmark)

    Sapkota, Yadav; Vivo, Immaculata De; Steinthorsdottir, Valgerdur

    2017-01-01

    -modifying variants in endometriosis using exome-array genotyping in 7164 cases and 21005 controls, and a replication set of 1840 cases and 129016 controls of European ancestry. Results in the discovery sample identified significant evidence for association with coding variants in single-variant (rs1801232-CUBN...

  2. Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

    DEFF Research Database (Denmark)

    Zhao, Zhiguo; Wen, Wanqing; Michailidou, Kyriaki

    2016-01-01

    susceptibility loci and evaluated its relation to breast cancer risk using the data from two consortia, including 62,328 breast cancer patients and 83,817 controls of European ancestry. Unconditional logistic regression models were used to derive adjusted odds ratios (ORs) and 95 % confidence intervals (CIs...

  3. APOBEC3 deletion polymorphism is associated with breast cancer risk among women of European ancestry.

    Science.gov (United States)

    Xuan, Dennis; Li, Guoliang; Cai, Qiuyin; Deming-Halverson, Sandra; Shrubsole, Martha J; Shu, Xiao-Ou; Kelley, Mark C; Zheng, Wei; Long, Jirong

    2013-10-01

    Copy number variations occur frequently in the genome and are a significant source of human genetic variation accounting for disease. Recently, we discovered a common deletion located in the APOBEC3A and APOBEC3B genes significantly associated with breast cancer in Chinese women. Investigating this locus in other populations would be an expedient way to evaluate the generalizability of the novel finding. We analyzed the APOBEC3 deletion in a large study of 3273 European-ancestry women (including 1671 breast cancer cases and 1602 controls) from the population-based Nashville Breast Health Study. All participants were genotyped using real-time qualitative PCR. Logistic regression was used to derive odds ratios (ORs) and 95% confidence intervals (CIs) for the associations between the deletion polymorphism and breast cancer risk. The APOBEC3 deletion was observed in 12.4% of cases and 10.4% of controls. The deletion was significantly associated with breast cancer risk, with ORs and 95% CIs of 1.21 (1.02-1.43) associated with one-copy deletion and 2.29 (1.04-5.06) associated with two-copy deletion compared with women with no deletion (P for trend = 0.005). The positive association of the APOBEC3 deletion with breast cancer risk was similar for estrogen receptor-positive and estrogen receptor-negative breast cancer and was not modified by known breast cancer risk factors. Results from this study confirmed the association of the APOBEC3 deletion with breast cancer risk among women of European ancestry.

  4. Differentiation of African components of ancestry to stratify groups in a case-control study of a Brazilian urban population.

    Science.gov (United States)

    Silbiger, Vivian N; Hirata, Mario H; Luchessi, Andre D; Genvigir, Fabiana D V; Cerda, Alvaro; Rodrigues, Alice C; Willrich, Maria A V; Arazi, Simone S; Dorea, Egidio L; Bernik, Marcia M S; Faludi, Andre A; Bertolami, Marcelo C; Santos, Carla; Carracedo, Angel; Salas, Antonio; Freire, Ana; Lareu, Maria Victoria; Phillips, Christopher; Porras-Hurtado, Liliana; Fondevila, Manuel; Hirata, Rosario D C

    2012-06-01

    Balancing the subject composition of case and control groups to create homogenous ancestries between each group is essential for medical association studies. We explored the applicability of single-tube 34-plex ancestry informative markers (AIM) single nucleotide polymorphisms (SNPs) to estimate the African Component of Ancestry (ACA) to design a future case-control association study of a Brazilian urban sample. One hundred eighty individuals (107 case group; 73 control group) self-described as white, brown-intermediate or black were selected. The proportions of the relative contribution of a variable number of ancestral population components were similar between case and control groups. Moreover, the case and control groups demonstrated similar distributions for ACA 0.50 categories. Notably a high number of outlier values (23 samples) were observed among individuals with ACA population. This can be achieved using a straight forward multiplexed AIM-SNPs assay of highly discriminatory ancestry markers.

  5. Genetic susceptibility to type 2 diabetes and breast cancer risk in women of European and African ancestry.

    Science.gov (United States)

    Hou, Ningqi; Zheng, Yonglan; Gamazon, Eric R; Ogundiran, Temidayo O; Adebamowo, Clement; Nathanson, Katherine L; Domchek, Susan M; Rebbeck, Timothy R; Simon, Michael S; John, Esther M; Hennis, Anselm; Nemesure, Barbara; Wu, Suh-Yuh; Leske, M Cristina; Ambs, Stefan; Niu, Qun; Zhang, Jing; Pierce, Brandon; Cox, Nancy J; Olopade, Olufunmilayo I; Huo, Dezheng

    2012-03-01

    Epidemiologic studies have reported a positive association between type 2 diabetes (T2D) and breast cancer risk, independent of body weight. We investigated 40 genetic variants known to be associated with T2D in relation to breast cancer risk among 2,651 breast cancer cases and 2,520 controls of African or European ancestry that were pooled from seven studies. We found that two T2D risk alleles in Caucasian women (rs5945326-G, rs12518099-C) and one in women of African ancestry (rs7578597-T) were positively associated with breast cancer risk at a nominal significance level of 0.05, whereas two T2D risk alleles were inversely associated with breast cancer risk in Caucasian women (rs1111875-C, rs10923931-T). The composite T2D susceptibility score (the number of risk allele) was not significantly associated with breast cancer risk. The association between established T2D genetic susceptibility variants and breast cancer risk in women of African or European ancestry is likely weak, if it does exist. The pleiotropic effects of known T2D risk alleles cannot explain the association between T2D and breast cancer risk. ©2012 AACR.

  6. Conserved KIR Allele-Level Haplotypes Are Altered by Microvariation in Individuals with European Ancestry

    Science.gov (United States)

    Hou, Lihua; Chen, Minghua; Ng, Jennifer; Hurley, Carolyn Katovich

    2012-01-01

    Natural killer cell immunoglobulin-like receptor (KIR) haplotype-specific DNA fragments were sequenced to identify centromeric and telomeric allele level haplotype structures and their frequencies from 76 unrelated individuals with European ancestry. Analysis was simplified by redefining the 5’ boundary of the centromeric KIR gene cluster to include only exons 7-9 of KIR3DL3. Three consensus allele level haplotypes were identified for a centromeric gene presence/absence structure designated as Cen-A1. KIR3DL3*00201 (ex 7-9)—KIR2DL3*001—KIR2DL1*00302 was the most frequent (37.5%) centromeric structure. Single consensus haplotypes were observed for haplotype structures Cen-B1 and Cen-B2. Six Tel-A1 and two Tel-B1 consensus haplotypes were observed; the most prevalent (23.0%) was KIR2DL4*00102—KIR3DL1*002—KIR2DS4*00101—KIR3DL2*002. A small number of nucleotide substitutions (≤3) in the coding regions of the functional KIR genes created microvariants of the consensus haplotypes. Eight less common haplotype structures were also detected. Four carried hybrid genes formed during gene deletion events, two carried an insertion with a 2DL5/3DP1 fusion gene, and two included a very large insertion. These data show that the KIR gene complex is composed of a limited number of conserved allele level centromeric and telomeric haplotypes that have diversified by mutation, recombination within a locus, and unequal crossing over. PMID:21796155

  7. Evidence for chromosome 2p16.3 polycystic ovary syndrome susceptibility locus in affected women of European ancestry.

    Science.gov (United States)

    Mutharasan, Priscilla; Galdones, Eugene; Peñalver Bernabé, Beatriz; Garcia, Obed A; Jafari, Nadereh; Shea, Lonnie D; Woodruff, Teresa K; Legro, Richard S; Dunaif, Andrea; Urbanek, Margrit

    2013-01-01

    A previous genome-wide association study in Chinese women with polycystic ovary syndrome (PCOS) identified a region on chromosome 2p16.3 encoding the LH/choriogonadotropin receptor (LHCGR) and FSH receptor (FSHR) genes as a reproducible PCOS susceptibility locus. The objective of the study was to determine the role of the LHCGR and/or FSHR gene in the etiology of PCOS in women of European ancestry. This was a genetic association study in a European ancestry cohort of women with PCOS. The study was conducted at an academic medical center. Participants in the study included 905 women with PCOS diagnosed by National Institutes of Health criteria and 956 control women. We genotyped 94 haplotype-tagging single-nucleotide polymorphisms and two coding single-nucleotide polymorphisms mapping to the coding region of LHCGR and FSHR plus 20 kb upstream and downstream of the genes and test for association in the case control cohort and for association with nine quantitative traits in the women with PCOS. We found strong evidence for an association of PCOS with rs7562215 (P = 0.0037) and rs10495960 (P = 0.0046). Although the marker with the strongest association in the Chinese PCOS genome-wide association study (rs13405728) was not informative in the European populations, we identified and genotyped three markers (rs35960650, rs2956355, and rs7562879) within 5 kb of rs13405728. Of these, rs7562879 was nominally associated with PCOS (P = 0.020). The strongest evidence for association mapping to FSHR was observed with rs1922476 (P = 0.0053). Furthermore, markers with the FSHR gene region were associated with FSH levels in women with PCOS. Fine mapping of the chromosome 2p16.3 Chinese PCOS susceptibility locus in a European ancestry cohort provides evidence for association with two independent loci and PCOS. The gene products LHCGR and FSHR therefore are likely to be important in the etiology of PCOS, regardless of ethnicity.

  8. Particle flux across the mid-European continental margin

    CERN Document Server

    Antia, A N; Peinert, R

    1999-01-01

    Results are presented from particle flux studies using sediment trap and current meter moorings along a transect at the European continental margin at 49 degrees N within the Ocean Margin Exchange (OMEX) project. Two moorings were placed, at the mid- and outer slope in water depths of 1500 and 3660 m, with traps at 600 and 1050 m and at 580, 1440 and 3220 m, respectively. Residual currents at the mid- slope follow the slope contour, whereas seasonal off-slope flow was registered at the outer slope. At 600 m on the slope fluxes are similar to those in the abyssal North Atlantic. The flux of all components (bulk dry weight, particulate organic and inorganic carbon, lithogenic matter and opal) increased with water depth. Highest fluxes were recorded at 1440 m at the outer slope, where off- slope residual currents mediate particle export. The injection of biogenic and lithogenic particles below the depth of winter mixing results in the export of particles from shallower waters. Calculated lateral fluxes of partic...

  9. Developmental validation of mitochondrial DNA genotyping assays for adept matrilineal inference of biogeographic ancestry at a continental level

    NARCIS (Netherlands)

    L.C. Chaitanya (Lakshmi); M. van Oven (Mannis); J.M. Weiler; J. Harteveld (Joyce); L. Wirken (Laura); T. Sijen (Titia); P. de Knijff (Peter); M.H. Kayser (Manfred)

    2014-01-01

    textabstractMitochondrial DNA (mtDNA) can be used for matrilineal biogeographic ancestry prediction and can thus provide investigative leads towards identifying unknown suspects, when conventional autosomal short tandem repeat (STR) profiling fails to provide a match. Recently, six multiplex

  10. European ancestry is positively associated with breast cancer risk in Mexican women

    OpenAIRE

    Fejerman, Laura; Romieu, Isabelle; John, Esther M.; Lazcano-Ponce, Eduardo; Huntsman, Scott; Beckman, Kenneth B.; Pérez-Stable, Eliseo J.; Burchard, Esteban Gonzalez; Ziv, Elad; Torres-Mejía, Gabriela

    2010-01-01

    The incidence of breast cancer is 35% lower in Hispanic women living in the San Francisco Bay Area than in non-Hispanic white women. We have previously described a significant association between genetic ancestry and risk of breast cancer in a sample of US Hispanics/Latinas. We re-tested the association in women residing in Mexico because of the possibility that the original finding may be confounded by US specific unmeasured environmental exposures. We genotyped a set of 106 ancestry informa...

  11. Han Chinese polycystic ovary syndrome risk variants in women of European ancestry: relationship to FSH levels and glucose tolerance.

    Science.gov (United States)

    Saxena, R; Georgopoulos, N A; Braaten, T J; Bjonnes, A C; Koika, V; Panidis, D; Welt, C K

    2015-06-01

    associated with insulin (-0.16 ± 0.05, P = 0.0029) and glucose levels (-0.20 ± 0.05, P = 0.0002) 120 min after an oral glucose test. The study was large and contained replication cohorts, but was limited by a small number of controls in the Greek cohort and a small number of cases in the second Boston cohort. The second Boston group was identified using electronic medical record review, but was validated for the cardinal features of PCOS. This study demonstrates a cross-ethnic PCOS risk locus in FSHR in women of European ancestry with PCOS. The variant may influence FSH receptor responsiveness as suggested by the associated change in FSH levels. The relationship between a variant near RAB5B and SUOX and glucose stimulated insulin and glucose levels suggests an influence of one of these genes on glucose tolerance, but the absence of a relationship with PCOS points to potential differences in the international PCOS patient populations. The project was supported by Award Number R01HD065029 from the Eunice Kennedy Shriver National Institute Of Child Health & Human Development, Award Number 1 UL1 RR025758, Harvard Clinical and Translational Science Center, from the National Center for Research Resources, award 1-10-CT-57 from the American Diabetes Association and the Partners Healthcare Center for Personalized Genetics Project Grant. C.K.W. is a consultant for Takeda Pharmaceuticals. NCT00166569. © The Author 2015. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  12. Association of Pancreatic Cancer Susceptibility Variants with Risk of Breast Cancer in Women of European and African Ancestry.

    Science.gov (United States)

    Wang, Shengfeng; Zheng, Yonglan; Ogundiran, Temidayo O; Ojengbede, Oladosu; Zheng, Wei; Nathanson, Katherine L; Nemesure, Barbara; Ambs, Stefan; Olopade, Olufunmilayo I; Huo, Dezheng

    2018-01-01

    Background: Pancreatic cancer mutation signatures closely resemble breast cancer, suggesting that both cancers may have common predisposition mechanisms that may include commonly inherited SNPs. Methods: We examined 23 genetic variants known to be associated with pancreatic cancer as breast cancer risk factors in the Root genome-wide association study (GWAS; 1,657 cases and 2,029 controls of African diaspora) and GAME-ON/DRIVE GWAS (16,003 cases and 41,335 controls of European ancestry). Results: None of the pancreatic cancer susceptibility variants were individually associated with breast cancer risk after adjustment for multiple testing (at α = 0.002) in the two populations. In Root GWAS, a change by one SD in the polygenic risk score (PRS) was not significantly associated with breast cancer. In addition, we did not observe a trend in the relationship between PRS percentiles and breast cancer risk. Conclusions: The association between reported pancreatic cancer genetic susceptibility variants and breast cancer development in women of African or European ancestry is likely weak, if it does exist. Impact: Known GWAS-derived susceptibility variants of pancreatic cancer do not explain its shared genetic etiology with breast cancer. Cancer Epidemiol Biomarkers Prev; 27(1); 116-8. ©2017 AACR . ©2017 American Association for Cancer Research.

  13. Association between Plasma 25-Hydroxyvitamin D, Ancestry and Aggressive Prostate Cancer among African Americans and European Americans in PCaP.

    Directory of Open Access Journals (Sweden)

    Susan E Steck

    Full Text Available African Americans (AAs have lower circulating 25-hydroxyvitamin D3 [25(OHD3] concentrations and higher prostate cancer (CaP aggressiveness than other racial/ethnic groups. The purpose of the current study was to examine the relationship between plasma 25(OHD3, African ancestry and CaP aggressiveness among AAs and European Americans (EAs.Plasma 25(OHD3 was measured using LC-MS/MS (Liquid Chromatography Tandem Mass Spectrometry in 537 AA and 663 EA newly-diagnosed CaP patients from the North Carolina-Louisiana Prostate Cancer Project (PCaP classified as having either 'high' or 'low' aggressive disease based on clinical stage, Gleason grade and prostate specific antigen at diagnosis. Mean plasma 25(OHD3 concentrations were compared by proportion of African ancestry. Logistic regression was used to calculate multivariable adjusted odds ratios (OR and 95% confidence intervals (95%CI for high aggressive CaP by tertile of plasma 25(OHD3.AAs with highest percent African ancestry (>95% had the lowest mean plasma 25(OHD3 concentrations. Overall, plasma 25(OHD3 was associated positively with aggressiveness among AA men, an association that was modified by calcium intake (ORT 3vs.T1: 2.23, 95%CI: 1.26-3.95 among men with low calcium intake, and ORT 3vs.T1: 0.19, 95%CI: 0.05-0.70 among men with high calcium intake. Among EAs, the point estimates of the ORs were <1.0 for the upper tertiles with CIs that included the null.Among AAs, plasma 25(OHD3 was associated positively with CaP aggressiveness among men with low calcium intake and inversely among men with high calcium intake. The clinical significance of circulating concentrations of 25(OHD3 and interactions with calcium intake in the AA population warrants further study.

  14. Cytokine and cytokine receptor genes of the adaptive immune response are differentially associated with breast cancer risk in American women of African and European ancestry.

    Science.gov (United States)

    Quan, Lei; Gong, Zhihong; Yao, Song; Bandera, Elisa V; Zirpoli, Gary; Hwang, Helena; Roberts, Michelle; Ciupak, Gregory; Davis, Warren; Sucheston, Lara; Pawlish, Karen; Bovbjerg, Dana H; Jandorf, Lina; Cabasag, Citadel; Coignet, Jean-Gabriel; Ambrosone, Christine B; Hong, Chi-Chen

    2014-03-15

    Disparities in breast cancer biology are evident between American women of African ancestry (AA) and European ancestry (EA) and may be due, in part, to differences in immune function. To assess the potential role of constitutional host immunity on breast carcinogenesis, we tested associations between breast cancer risk and 47 single nucleotide polymorphisms (SNPs) in 26 cytokine-related genes of the adaptive immune system using 650 EA (n = 335 cases) and 864 AA (n = 458 cases) women from the Women's Circle of Health Study (WCHS). With additional participant accrual to the WCHS, promising SNPs from the initial analysis were evaluated in a larger sample size (1,307 EAs and 1,365 AAs). Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. The combined effect of these five SNPs was highly significant among AAs (P-trend = 0.0005). When stratified by estrogen receptor (ER) status, LTA rs1041981 was associated with ER-positive breast cancers among EAs and marginally among AAs. Only among AA women, IL15 rs10833 and IL15RA rs2296135 were associated with ER-positive tumors, and IL12RB1 rs375947, IL15 rs10833 and TGFB1 rs1800469 were associated with ER-negative tumors. Our study systematically identified genetic variants in the adaptive immune response pathway associated with breast cancer risk, which appears to differ by ancestry groups, menopausal status and ER status. © 2013 UICC.

  15. European Continental Scale Hydrological Model, Limitations and Challenges

    Science.gov (United States)

    Rouholahnejad, E.; Abbaspour, K.

    2014-12-01

    The pressures on water resources due to increasing levels of societal demand, increasing conflict of interest and uncertainties with regard to freshwater availability create challenges for water managers and policymakers in many parts of Europe. At the same time, climate change adds a new level of pressure and uncertainty with regard to freshwater supplies. On the other hand, the small-scale sectoral structure of water management is now reaching its limits. The integrated management of water in basins requires a new level of consideration where water bodies are to be viewed in the context of the whole river system and managed as a unit within their basins. In this research we present the limitations and challenges of modelling the hydrology of the continent Europe. The challenges include: data availability at continental scale and the use of globally available data, streamgauge data quality and their misleading impacts on model calibration, calibration of large-scale distributed model, uncertainty quantification, and computation time. We describe how to avoid over parameterization in calibration process and introduce a parallel processing scheme to overcome high computation time. We used Soil and Water Assessment Tool (SWAT) program as an integrated hydrology and crop growth simulator to model water resources of the Europe continent. Different components of water resources are simulated and crop yield and water quality are considered at the Hydrological Response Unit (HRU) level. The water resources are quantified at subbasin level with monthly time intervals for the period of 1970-2006. The use of a large-scale, high-resolution water resources models enables consistent and comprehensive examination of integrated system behavior through physically-based, data-driven simulation and provides the overall picture of water resources temporal and spatial distribution across the continent. The calibrated model and results provide information support to the European Water

  16. Iris pigmentation as a quantitative trait: variation in populations of European, East Asian and South Asian ancestry and association with candidate gene polymorphisms.

    Science.gov (United States)

    Edwards, Melissa; Cha, David; Krithika, S; Johnson, Monique; Cook, Gillian; Parra, Esteban J

    2016-03-01

    In this study, we present a new quantitative method to measure iris colour based on high-resolution photographs. We applied this method to analyse iris colour variation in a sample of individuals of East Asian, European and South Asian ancestry. We show that measuring iris colour using the coordinates of the CIELAB colour space uncovers a significant amount of variation that is not captured using conventional categorical classifications, such as 'brown', 'blue' or 'green'. We tested the association of a selected panel of polymorphisms with iris colour in each population group. Six markers showed significant associations with iris colour in the European sample, three in the South Asian sample and two in the East Asian sample. We also observed that the marker HERC2 rs12913832, which is the main determinant of 'blue' versus 'brown' iris colour in European populations, is also significantly associated with central heterochromia in the European sample. © 2015 The Authors. Pigment Cell & Melanoma Research Published by John Wiley & Sons Ltd.

  17. European American stratification in ovarian cancer case control data: the utility of genome-wide data for inferring ancestry.

    Directory of Open Access Journals (Sweden)

    Paola Raska

    Full Text Available We investigated the ability of several principal components analysis (PCA-based strategies to detect and control for population stratification using data from a multi-center study of epithelial ovarian cancer among women of European-American ethnicity. These include a correction based on an ancestry informative markers (AIMs panel designed to capture European ancestral variation and corrections utilizing un-thinned genome-wide SNP data; case-control samples were drawn from four geographically distinct North-American sites. The AIMs-only and genome-wide first principal components (PC1 both corresponded to the previously described North or Northwest-Southeast axis of European variation. We found that the genome-wide PCA captured this primary dimension of variation more precisely and identified additional axes of genome-wide variation of relevance to epithelial ovarian cancer. Associations evident between the genome-wide PCs and study site corroborate North American immigration history and suggest that undiscovered dimensions of variation lie within Northern Europe. The structure captured by the genome-wide PCA was also found within control individuals and did not reflect the case-control variation present in the data. The genome-wide PCA highlighted three regions of local LD, corresponding to the lactase (LCT gene on chromosome 2, the human leukocyte antigen system (HLA on chromosome 6 and to a common inversion polymorphism on chromosome 8. These features did not compromise the efficacy of PCs from this analysis for ancestry control. This study concludes that although AIMs panels are a cost-effective way of capturing population structure, genome-wide data should preferably be used when available.

  18. Genetic ancestry affects the phenotype of normogonadotropic anovulatory (WHOII) subfertility.

    Science.gov (United States)

    Valkenburg, O; Lao, O; Schipper, I; Louwers, Y; Uitterlinden, A G; Kayser, M; Laven, J S E

    2011-07-01

    Normogonadotropic (World Health Organization category II) anovulation is the most frequent cause of reduced fertility. Anovulation is associated with endocrine changes, i.e. hyperandrogenism, obesity, and insulin resistance. However, the phenotype is notoriously heterogeneous, depending on population characteristics and diagnostic criteria. Our objective was to study the phenotype of normogonadotropic anovulatory women among various ethnic subgroups that coexist in an urban community (The Netherlands). Moreover, we studied whether genetic ancestry testing can be used to identify bio-geographic ancestry and predict the phenotype of individual patients. A standardized clinical and endocrine examination was performed in 1517 normogonadotropic anovulatory women. Bio-geographic ancestry was ascertained by questionnaire and genetic testing (637 cases), using a set of 10 previously validated ancestry informative markers. Subgroups constituted individuals from northwestern European (n = 774), Mediterranean European (north of Sahara and Middle East, n = 220), African (n = 111), Southeast Asian (n = 53), and Hindustani (n = 83) origin. Phenotypic differences included fasting insulin levels, androgen levels, and the frequency of hyperandrogenism (ranging from 76% in Mediterranean-European women to 41% in northwestern European women). Genetic ancestry testing was able to identify population structure on a continental level, i.e. European, African and Southeast Asian descent. We did not observe improved informativeness when genotype data were added to the prediction model. Population differences add to the phenotype of normogonadotropic anovulation and need to be taken into account when evaluating the individual patient. Although effective on a continental level, the present set of ancestry markers was not sufficiently effective to describe all ethnic variation in the phenotype of anovulatory subfertility.

  19. Characterization of European ancestry nonalcoholic fatty liver disease-associated variants in individuals of African and Hispanic descent.

    Science.gov (United States)

    Palmer, Nicholette D; Musani, Solomon K; Yerges-Armstrong, Laura M; Feitosa, Mary F; Bielak, Lawrence F; Hernaez, Ruben; Kahali, Bratati; Carr, J Jeffrey; Harris, Tamara B; Jhun, Min A; Kardia, Sharon L R; Langefeld, Carl D; Mosley, Thomas H; Norris, Jill M; Smith, Albert V; Taylor, Herman A; Wagenknecht, Lynne E; Liu, Jiankang; Borecki, Ingrid B; Peyser, Patricia A; Speliotes, Elizabeth K

    2013-09-01

    Nonalcoholic fatty liver disease (NAFLD) is an obesity-related condition affecting over 50% of individuals in some populations and is expected to become the number one cause of liver disease worldwide by 2020. Common, robustly associated genetic variants in/near five genes were identified for hepatic steatosis, a quantifiable component of NAFLD, in European ancestry individuals. Here we tested whether these variants were associated with hepatic steatosis in African- and/or Hispanic-Americans and fine-mapped the observed association signals. We measured hepatic steatosis using computed tomography in five African American (n = 3,124) and one Hispanic American (n = 849) cohorts. All analyses controlled for variation in age, age(2) , gender, alcoholic drinks, and population substructure. Heritability of hepatic steatosis was estimated in three cohorts. Variants in/near PNPLA3, NCAN, LYPLAL1, GCKR, and PPP1R3B were tested for association with hepatic steatosis using a regression framework in each cohort and meta-analyzed. Fine-mapping across African American cohorts was conducted using meta-analysis. African- and Hispanic-American cohorts were 33.9/37.5% male, with average age of 58.6/42.6 years and body mass index of 31.8/28.9 kg/m(2) , respectively. Hepatic steatosis was 0.20-0.34 heritable in African- and Hispanic-American families (P < 0.02 in each cohort). Variants in or near PNPLA3, NCAN, GCKR, PPP1R3B in African Americans and PNPLA3 and PPP1R3B in Hispanic Americans were significantly associated with hepatic steatosis; however, allele frequency and effect size varied across ancestries. Fine-mapping in African Americans highlighted missense variants at PNPLA3 and GCKR and redefined the association region at LYPLAL1. Multiple genetic variants are associated with hepatic steatosis across ancestries. This explains a substantial proportion of the genetic predisposition in African- and Hispanic-Americans. Missense variants in PNPLA3 and GCKR are likely

  20. Smoking and Genetic Risk Variation across Populations of European, Asian, and African-American Ancestry - A Meta-analysis of Chromosome 15q25

    OpenAIRE

    Chen, Li-Shiun; Saccone, Nancy L.; Culverhouse, Robert C.; Bracci, Paige M.; Chen, Chien-Hsiun; Dueker, Nicole; Han, Younghun; Huang, Hongyan; Jin, Guangfu; Kohno, Takashi; Ma, Jennie Z.; Przybeck, Thomas R.; Sanders, Alan R.; Smith, Jennifer A.; Sung, Yun Ju

    2012-01-01

    Recent meta-analyses of European ancestry subjects show strong evidence for association between smoking quantity and multiple genetic variants on chromosome 15q25. This meta-analysis extends the examination of association between distinct genes in the CHRNA5-CHRNA3-CHRNB4 region and smoking quantity to Asian and African American populations to confirm and refine specific reported associations.

  1. Differences in body composition between infants of South Asian and European ancestry: the London Mother and Baby Study.

    Science.gov (United States)

    Stanfield, Kristina M; Wells, Jonathan C; Fewtrell, Mary S; Frost, Chris; Leon, David A

    2012-10-01

    South Asian children and adults have a more adipose body composition compared with those of European ancestry. This is thought to be related to their increased risk of metabolic disorders. However, little is known about how early in life such differences are manifest. To determine whether there are differences in fat mass (FM) and fat-free mass (FFM) between UK-born South Asians and White Europeans in infancy. Design A cross-sectional study of 30 South Asian and 30 White European infants aged 6-12 weeks. Mothers were recruited from clinics in London, and infants' FM and FFM were determined using air-displacement plethysmography (PeaPod(®)). In early infancy South Asians had less FFM than White Europeans [0.34 kg less, 95% confidence interval (CI): 0.15, 0.52], with a considerably weaker indication of them also having more FM (0.02 kg more, 95% CI: -0.14, 0.18). These differences persisted when the overall smaller body size of South Asian infants was taken into account. For a given total infant weight, the balance of body composition of South Asians was shifted by 0.16 kg (95% CI: 0.06, 0.25) from FFM to FM. The ethnic differences in the amount of FFM were almost completely accounted for by ethnic differences in the rate of growth in utero and length of gestation. The characteristic differences in body composition observed between adult South Asians and White Europeans are apparent in early infancy. Of particular note is that this is the first study to demonstrate that South Asians compared with White Europeans have reduced FFM in infancy. The early manifestation of this phenotype suggests that it is either genetic and/or determined through exposure to maternal physiology, rather than a consequence of behaviours or diet in childhood or at older ages.

  2. Effects of cis and trans genetic ancestry on gene expression in African Americans.

    Directory of Open Access Journals (Sweden)

    Alkes L Price

    2008-12-01

    Full Text Available Variation in gene expression is a fundamental aspect of human phenotypic variation. Several recent studies have analyzed gene expression levels in populations of different continental ancestry and reported population differences at a large number of genes. However, these differences could largely be due to non-genetic (e.g., environmental effects. Here, we analyze gene expression levels in African American cell lines, which differ from previously analyzed cell lines in that individuals from this population inherit variable proportions of two continental ancestries. We first relate gene expression levels in individual African Americans to their genome-wide proportion of European ancestry. The results provide strong evidence of a genetic contribution to expression differences between European and African populations, validating previous findings. Second, we infer local ancestry (0, 1, or 2 European chromosomes at each location in the genome and investigate the effects of ancestry proximal to the expressed gene (cis versus ancestry elsewhere in the genome (trans. Both effects are highly significant, and we estimate that 12+/-3% of all heritable variation in human gene expression is due to cis variants.

  3. Association between Plasma 25-Hydroxyvitamin D, Ancestry and Aggressive Prostate Cancer among African Americans and European Americans in PCaP

    Science.gov (United States)

    Steck, Susan E.; Arab, Lenore; Zhang, Hongmei; Bensen, Jeannette T.; Fontham, Elizabeth T. H.; Johnson, Candace S.; Mohler, James L.; Smith, Gary J.; Su, Joseph L.; Trump, Donald L.; Woloszynska-Read, Anna

    2015-01-01

    Background African Americans (AAs) have lower circulating 25-hydroxyvitamin D3 [25(OH)D3] concentrations and higher prostate cancer (CaP) aggressiveness than other racial/ethnic groups. The purpose of the current study was to examine the relationship between plasma 25(OH)D3, African ancestry and CaP aggressiveness among AAs and European Americans (EAs). Methods Plasma 25(OH)D3 was measured using LC-MS/MS (Liquid Chromatography Tandem Mass Spectrometry) in 537 AA and 663 EA newly-diagnosed CaP patients from the North Carolina-Louisiana Prostate Cancer Project (PCaP) classified as having either ‘high’ or ‘low’ aggressive disease based on clinical stage, Gleason grade and prostate specific antigen at diagnosis. Mean plasma 25(OH)D3 concentrations were compared by proportion of African ancestry. Logistic regression was used to calculate multivariable adjusted odds ratios (OR) and 95% confidence intervals (95%CI) for high aggressive CaP by tertile of plasma 25(OH)D3. Results AAs with highest percent African ancestry (>95%) had the lowest mean plasma 25(OH)D3 concentrations. Overall, plasma 25(OH)D3 was associated positively with aggressiveness among AA men, an association that was modified by calcium intake (ORT3vs.T1: 2.23, 95%CI: 1.26–3.95 among men with low calcium intake, and ORT3vs.T1: 0.19, 95%CI: 0.05–0.70 among men with high calcium intake). Among EAs, the point estimates of the ORs were <1.0 for the upper tertiles with CIs that included the null. Conclusions Among AAs, plasma 25(OH)D3 was associated positively with CaP aggressiveness among men with low calcium intake and inversely among men with high calcium intake. The clinical significance of circulating concentrations of 25(OH)D3 and interactions with calcium intake in the AA population warrants further study. PMID:25919866

  4. A Quasi-Exclusive European Ancestry in the Senepol Tropical Cattle Breed Highlights the Importance of the slick Locus in Tropical Adaptation

    OpenAIRE

    Flori, Laurence; Gonzatti, Mary Isabel; Thevenon, Sophie; Chantal, Isabelle; Pinto, Joar; Berthier, David; Aso, Pedro M.; Gautier, Mathieu

    2012-01-01

    Background: The Senepol cattle breed (SEN) was created in the early XXth century from a presumed cross between a European (EUT) breed (Red Poll) and a West African taurine (AFT) breed (N'Dama). Well adapted to tropical conditions, it is also believed trypanotolerant according to its putative AFT ancestry. However, such origins needed to be verified to define relevant husbandry practices and the genetic background underlying such adaptation needed to be characterized. Methodology/Principal Fin...

  5. A combined evidence Bayesian method for human ancestry inference applied to Afro-Colombians.

    Science.gov (United States)

    Rishishwar, Lavanya; Conley, Andrew B; Vidakovic, Brani; Jordan, I King

    2015-12-15

    Uniparental genetic markers, mitochondrial DNA (mtDNA) and Y chromosomal DNA, are widely used for the inference of human ancestry. However, the resolution of ancestral origins based on mtDNA haplotypes is limited by the fact that such haplotypes are often found to be distributed across wide geographical regions. We have addressed this issue here by combining two sources of ancestry information that have typically been considered separately: historical records regarding population origins and genetic information on mtDNA haplotypes. To combine these distinct data sources, we applied a Bayesian approach that considers historical records, in the form of prior probabilities, together with data on the geographical distribution of mtDNA haplotypes, formulated as likelihoods, to yield ancestry assignments from posterior probabilities. This combined evidence Bayesian approach to ancestry assignment was evaluated for its ability to accurately assign sub-continental African ancestral origins to Afro-Colombians based on their mtDNA haplotypes. We demonstrate that the incorporation of historical prior probabilities via this analytical framework can provide for substantially increased resolution in sub-continental African ancestry assignment for members of this population. In addition, a personalized approach to ancestry assignment that involves the tuning of priors to individual mtDNA haplotypes yields even greater resolution for individual ancestry assignment. Despite the fact that Colombia has a large population of Afro-descendants, the ancestry of this community has been understudied relative to populations with primarily European and Native American ancestry. Thus, the application of the kind of combined evidence approach developed here to the study of ancestry in the Afro-Colombian population has the potential to be impactful. The formal Bayesian analytical framework we propose for combining historical and genetic information also has the potential to be widely applied

  6. Gene × physical activity interactions in obesity: combined analysis of 111,421 individuals of European ancestry.

    Directory of Open Access Journals (Sweden)

    Shafqat Ahmad

    Full Text Available Numerous obesity loci have been identified using genome-wide association studies. A UK study indicated that physical activity may attenuate the cumulative effect of 12 of these loci, but replication studies are lacking. Therefore, we tested whether the aggregate effect of these loci is diminished in adults of European ancestry reporting high levels of physical activity. Twelve obesity-susceptibility loci were genotyped or imputed in 111,421 participants. A genetic risk score (GRS was calculated by summing the BMI-associated alleles of each genetic variant. Physical activity was assessed using self-administered questionnaires. Multiplicative interactions between the GRS and physical activity on BMI were tested in linear and logistic regression models in each cohort, with adjustment for age, age(2, sex, study center (for multicenter studies, and the marginal terms for physical activity and the GRS. These results were combined using meta-analysis weighted by cohort sample size. The meta-analysis yielded a statistically significant GRS × physical activity interaction effect estimate (Pinteraction  = 0.015. However, a statistically significant interaction effect was only apparent in North American cohorts (n = 39,810, Pinteraction  = 0.014 vs. n = 71,611, Pinteraction  = 0.275 for Europeans. In secondary analyses, both the FTO rs1121980 (Pinteraction  = 0.003 and the SEC16B rs10913469 (Pinteraction  = 0.025 variants showed evidence of SNP × physical activity interactions. This meta-analysis of 111,421 individuals provides further support for an interaction between physical activity and a GRS in obesity disposition, although these findings hinge on the inclusion of cohorts from North America, indicating that these results are either population-specific or non-causal.

  7. Gene × Physical Activity Interactions in Obesity: Combined Analysis of 111,421 Individuals of European Ancestry

    Science.gov (United States)

    Ahmad, Shafqat; Rukh, Gull; Varga, Tibor V.; Ali, Ashfaq; Kurbasic, Azra; Shungin, Dmitry; Ericson, Ulrika; Koivula, Robert W.; Chu, Audrey Y.; Rose, Lynda M.; Ganna, Andrea; Qi, Qibin; Stančáková, Alena; Sandholt, Camilla H.; Elks, Cathy E.; Curhan, Gary; Jensen, Majken K.; Tamimi, Rulla M.; Allin, Kristine H.; Jørgensen, Torben; Brage, Soren; Langenberg, Claudia; Aadahl, Mette; Grarup, Niels; Linneberg, Allan; Paré, Guillaume; Magnusson, Patrik K. E.; Pedersen, Nancy L.; Boehnke, Michael; Hamsten, Anders; Mohlke, Karen L.; Pasquale, Louis T.; Pedersen, Oluf; Scott, Robert A.; Ridker, Paul M.; Ingelsson, Erik; Laakso, Markku; Hansen, Torben; Qi, Lu; Wareham, Nicholas J.; Chasman, Daniel I.; Hallmans, Göran; Hu, Frank B.; Renström, Frida; Orho-Melander, Marju; Franks, Paul W.

    2013-01-01

    Numerous obesity loci have been identified using genome-wide association studies. A UK study indicated that physical activity may attenuate the cumulative effect of 12 of these loci, but replication studies are lacking. Therefore, we tested whether the aggregate effect of these loci is diminished in adults of European ancestry reporting high levels of physical activity. Twelve obesity-susceptibility loci were genotyped or imputed in 111,421 participants. A genetic risk score (GRS) was calculated by summing the BMI-associated alleles of each genetic variant. Physical activity was assessed using self-administered questionnaires. Multiplicative interactions between the GRS and physical activity on BMI were tested in linear and logistic regression models in each cohort, with adjustment for age, age2, sex, study center (for multicenter studies), and the marginal terms for physical activity and the GRS. These results were combined using meta-analysis weighted by cohort sample size. The meta-analysis yielded a statistically significant GRS × physical activity interaction effect estimate (Pinteraction = 0.015). However, a statistically significant interaction effect was only apparent in North American cohorts (n = 39,810, Pinteraction = 0.014 vs. n = 71,611, Pinteraction = 0.275 for Europeans). In secondary analyses, both the FTO rs1121980 (Pinteraction = 0.003) and the SEC16B rs10913469 (Pinteraction = 0.025) variants showed evidence of SNP × physical activity interactions. This meta-analysis of 111,421 individuals provides further support for an interaction between physical activity and a GRS in obesity disposition, although these findings hinge on the inclusion of cohorts from North America, indicating that these results are either population-specific or non-causal. PMID:23935507

  8. HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry.

    Science.gov (United States)

    Henriksen, E K K; Viken, M K; Wittig, M; Holm, K; Folseraas, T; Mucha, S; Melum, E; Hov, J R; Lazaridis, K N; Juran, B D; Chazouillères, O; Färkkilä, M; Gotthardt, D N; Invernizzi, P; Carbone, M; Hirschfield, G M; Rushbrook, S M; Goode, E; Ponsioen, C Y; Weersma, R K; Eksteen, B; Yimam, K K; Gordon, S C; Goldberg, D; Yu, L; Bowlus, C L; Franke, A; Lie, B A; Karlsen, T H

    2017-10-01

    Primary sclerosing cholangitis (PSC) is strongly associated with several human leukocyte antigen (HLA) haplotypes. Due to extensive linkage disequilibrium and multiple polymorphic candidate genes in the HLA complex, identifying the alleles responsible for these associations has proven difficult. We aimed to evaluate whether studying populations of admixed or non-European descent could help in defining the causative HLA alleles. When assessing haplotypes carrying HLA-DRB1*13:01 (hypothesized to specifically increase the susceptibility to chronic cholangitis), we observed that every haplotype in the Scandinavian PSC population carried HLA-DQB1*06:03. In contrast, only 65% of HLA-DRB1*13:01 haplotypes in an admixed/non-European PSC population carried this allele, suggesting that further assessments of the PSC-associated haplotype HLA-DRB1*13:01-DQA1*01:03-DQB1*06:03 in admixed or multi-ethnic populations could aid in identifying the causative allele. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  9. Replication and functional genomic analyses of the breast cancer susceptibility locus at 6q25.1 generalize its importance in women of chinese, Japanese, and European ancestry.

    Science.gov (United States)

    Cai, Qiuyin; Wen, Wanqing; Qu, Shimian; Li, Guoliang; Egan, Kathleen M; Chen, Kexin; Deming, Sandra L; Shen, Hongbing; Shen, Chen-Yang; Gammon, Marilie D; Blot, William J; Matsuo, Keitaro; Haiman, Christopher A; Khoo, Ui Soon; Iwasaki, Motoki; Santella, Regina M; Zhang, Lina; Fair, Alecia Malin; Hu, Zhibin; Wu, Pei-Ei; Signorello, Lisa B; Titus-Ernstoff, Linda; Tajima, Kazuo; Henderson, Brian E; Chan, Kelvin Y K; Kasuga, Yoshio; Newcomb, Polly A; Zheng, Hong; Cui, Yong; Wang, Furu; Shieh, Ya-Lan; Iwata, Hiroji; Le Marchand, Loic; Chan, Sum Yin; Shrubsole, Martha J; Trentham-Dietz, Amy; Tsugane, Shoichiro; Garcia-Closas, Montserrat; Long, Jirong; Li, Chun; Shi, Jiajun; Huang, Bo; Xiang, Yong-Bing; Gao, Yu-Tang; Lu, Wei; Shu, Xiao-Ou; Zheng, Wei

    2011-02-15

    We evaluated the generalizability of a single nucleotide polymorphism (SNP), rs2046210 (A/G allele), associated with breast cancer risk that was initially identified at 6q25.1 in a genome-wide association study conducted among Chinese women. In a pooled analysis of more than 31,000 women of East-Asian, European, and African ancestry, we found a positive association for rs2046210 and breast cancer risk in Chinese women [ORs (95% CI) = 1.30 (1.22-1.38) and 1.64 (1.50-1.80) for the AG and AA genotypes, respectively, P for trend = 1.54 × 10⁻³⁰], Japanese women [ORs (95% CI) = 1.31 (1.13-1.52) and 1.37 (1.06-1.76), P for trend = 2.51 × 10⁻⁴], and European-ancestry American women [ORs (95% CI) = 1.07 (0.99-1.16) and 1.18 (1.04-1.34), P for trend = 0.0069]. No association with this SNP, however, was observed in African American women [ORs (95% CI) = 0.81 (0.63-1.06) and 0.85 (0.65-1.11) for the AG and AA genotypes, respectively, P for trend = 0.4027]. In vitro functional genomic studies identified a putative functional variant, rs6913578. This SNP is 1,440 bp downstream of rs2046210 and is in high linkage disequilibrium with rs2046210 in Chinese (r(2) = 0.91) and European-ancestry (r² = 0.83) populations, but not in Africans (r² = 0.57). SNP rs6913578 was found to be associated with breast cancer risk in Chinese and European-ancestry American women. After adjusting for rs2046210, the association of rs6913578 with breast cancer risk in African Americans approached borderline significance. Results from this large consortium study confirmed the association of rs2046210 with breast cancer risk among women of Chinese, Japanese, and European ancestry. This association may be explained in part by a putatively functional variant (rs6913578) identified in the region. ©2011 AACR.

  10. Have IFRS Positive Impact on the Regulatory Accounting Systems in Continental European Countries?

    OpenAIRE

    Žárová, Marcela; Mejzlík, Ladislav

    2009-01-01

    This article investigates statement that IFRS have positive impact on the regulatory system in continental European countries. The accounting regulatory system is used for the purpose of investigation. Authors of the paper developed theoretical scenarios of potential development of the accounting system in the Czech Republic. Rigid architecture of the accounting system, rigid set of accounting rules with no tradition of accounting profession, were considered in the development of potential ac...

  11. Population Structure Analysis of Bull Genomes of European and Western Ancestry

    DEFF Research Database (Denmark)

    Chung, Neo Christopher; Szyda, Joanna; Frąszczak, Magdalena

    2017-01-01

    Since domestication, population bottlenecks, breed formation, and selective breeding have radically shaped the genealogy and genetics of Bos taurus. In turn, characterization of population structure among diverse bull (males of Bos taurus) genomes enables detailed assessment of genetic resources...... and origins. By analyzing 432 unrelated bull genomes from 13 breeds and 16 countries, we demonstrate genetic diversity and structural complexity among the European/Western cattle population. Importantly, we relaxed a strong assumption of discrete or admixed population, by adapting latent variable models...... for individual-specific allele frequencies that directly capture a wide range of complex structure from genome-wide genotypes. As measured by magnitude of differentiation, selection pressure on SNPs within genes is substantially greater than that on intergenic regions. Additionally, broad regions of chromosome 6...

  12. Ancestry inference using principal component analysis and spatial analysis: a distance-based analysis to account for population substructure.

    Science.gov (United States)

    Byun, Jinyoung; Han, Younghun; Gorlov, Ivan P; Busam, Jonathan A; Seldin, Michael F; Amos, Christopher I

    2017-10-16

    Accurate inference of genetic ancestry is of fundamental interest to many biomedical, forensic, and anthropological research areas. Genetic ancestry memberships may relate to genetic disease risks. In a genome association study, failing to account for differences in genetic ancestry between cases and controls may also lead to false-positive results. Although a number of strategies for inferring and taking into account the confounding effects of genetic ancestry are available, applying them to large studies (tens thousands samples) is challenging. The goal of this study is to develop an approach for inferring genetic ancestry of samples with unknown ancestry among closely related populations and to provide accurate estimates of ancestry for application to large-scale studies. In this study we developed a novel distance-based approach, Ancestry Inference using Principal component analysis and Spatial analysis (AIPS) that incorporates an Inverse Distance Weighted (IDW) interpolation method from spatial analysis to assign individuals to population memberships. We demonstrate the benefits of AIPS in analyzing population substructure, specifically related to the four most commonly used tools EIGENSTRAT, STRUCTURE, fastSTRUCTURE, and ADMIXTURE using genotype data from various intra-European panels and European-Americans. While the aforementioned commonly used tools performed poorly in inferring ancestry from a large number of subpopulations, AIPS accurately distinguished variations between and within subpopulations. Our results show that AIPS can be applied to large-scale data sets to discriminate the modest variability among intra-continental populations as well as for characterizing inter-continental variation. The method we developed will protect against spurious associations when mapping the genetic basis of a disease. Our approach is more accurate and computationally efficient method for inferring genetic ancestry in the large-scale genetic studies.

  13. Flexibility of continental navigation and migration in European mallards

    DEFF Research Database (Denmark)

    van Toor, Mariëlle L.; Hedenström, Anders; Waldenström, Jonas

    2013-01-01

    The ontogeny of continent-wide navigation mechanisms of the individual organism, despite being crucial for the understanding of animal movement and migration, is still poorly understood. Several previous studies, mainly conducted on passerines, indicate that inexperienced, juvenile birds may...... not generally correct for displacement during fall migration. Waterbirds such as the mallard (Anas platyrhynchos, Linnaeus 1758) are more flexible in their migration behavior than most migratory songbirds, but previous experiments with waterbirds have not yet allowed clear conclusions about their navigation...... abilities. Here we tested whether immature mallard ducks correct for latitudinal displacement during fall migration within Europe. During two consecutive fall migration periods, we caught immature females on a stopover site in southeast Sweden, and translocated a group of them ca. 1,000 km to southern...

  14. Association of Genetic Susceptibility Variants for Type 2 Diabetes with Breast Cancer Risk in Women of European Ancestry

    Science.gov (United States)

    Zhao, Zhiguo; Wen, Wanqing; Michailidou, Kyriaki; Bolla, Manjeet K.; Wang, Qin; Zhang, Ben; Long, Jirong; Shu, Xiao-Ou; Schmidt, Marjanka K.; Milne, Roger L.; García-Closas, Montserrat; Chang-Claude, Jenny; Lindstrom, Sara; Bojesen, Stig E.; Ahsan, Habibul; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W.; Beeghly-Fadiel, Alicia; Benitez, Javier; Blomqvist, Carl; Bogdanova, Natalia V.; Børresen-Dale, Anne-Lise; Brand, Judith; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Cai, Qiuyin; Casey, Graham; Chenevix-Trench, Georgia; Couch, Fergus J.; Cox, Angela; Cross, Simon S.; Czene, Kamila; Dörk, Thilo; Dumont, Martine; Fasching, Peter A.; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fostira, Florentia; Gammon, Marilie; Giles, Graham G.; Guénel, Pascal; Haiman, Christopher A.; Hamann, Ute; Harrington, Patricia; Hartman, Mikael; Hooning, Maartje J.; Hopper, John L.; Jakubowska, Anna; Jasmine, Farzana; John, Esther M.; Johnson, Nichola; Kabisch, Maria; Khan, Sofia; Kibriya, Muhammad; Knight, Julia A.; Kosma, Veli-Matti; Kriege, Mieke; Kristensen, Vessela; Le Marchand, Loic; Lee, Eunjung; Li, Jingmei; Lindblom, Annika; Lophatananon, Artitaya; Luben, Robert; Lubinski, Jan; Malone, Kathleen E.; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Marme, Frederik; McLean, Catriona; Meijers-Heijboer, Hanne; Meindl, Alfons; Miao, Hui; Muir, Kenneth; Neuhausen, Susan L.; Nevanlinna, Heli; Neven, Patrick; Olson, Janet E.; Perkins, Barbara; Peterlongo, Paolo; Phillips, Kelly-Anne; Pylkäs, Katri; Rudolph, Anja; Santella, Regina; Sawyer, Elinor J.; Schmutzler, Rita K.; Schoemaker, Minouk; Shah, Mitul; Shrubsole, Martha; Southey, Melissa C.; Swerdlow, Anthony J; Toland, Amanda E.; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Ursin, Giske; Van Der Luijt, Rob B.; Verhoef, Senno; Wang-Gohrke, Shan; Whittemore, Alice S.; Winqvist, Robert; Zamora, M. Pilar; Zhao, Hui; Dunning, Alison M.; Simard, Jacques; Hall, Per; Kraft, Peter; Pharoah, Paul; Hunter, David; Easton, Douglas F.; Zheng, Wei

    2016-01-01

    Purpose Type 2 diabetes (T2D) has been reported to be associated with an elevated risk of breast cancer. It is unclear, however, whether this association is due to shared genetic factors. Methods We constructed a genetic risk score (GRS) using risk variants from 33 known independent T2D susceptibility loci and evaluated its relation to breast cancer risk using the data from two consortia, including 62,328 breast cancer patients and 83,817 controls of European ancestry. Unconditional logistic regression models were used to derive adjusted odds ratios (OR) and 95% confidence intervals (CI) to measure the association of breast cancer risk with T2D GRS or T2D-associated genetic risk variants. Meta-analyses were conducted to obtain summary ORs across all studies. Results The T2D GRS was not found to be associated with breast cancer risk, overall, by menopausal status, or for estrogen receptor positive or negative breast cancer. Three T2D associated risk variants were individually associated with breast cancer risk after adjustment for multiple comparisons using the Bonferroni method (at P < 0.001), rs9939609 (FTO) (OR = 0.94, 95% CI = 0.92 – 0.95, P = 4.13E-13), rs7903146 (TCF7L2) (OR = 1.04, 95% CI = 1.02 – 1.06, P = 1.26E-05), and rs8042680 (PRC1) (OR = 0.97, 95% CI = 0.95 – 0.99, P = 8.05E-04). Conclusions We have shown that several genetic risk variants were associated with the risk of both T2D and breast cancer. However, overall genetic susceptibility to T2D may not be related to breast cancer risk. PMID:27053251

  15. Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry.

    Science.gov (United States)

    Zhao, Zhiguo; Wen, Wanqing; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Qin; Zhang, Ben; Long, Jirong; Shu, Xiao-Ou; Schmidt, Marjanka K; Milne, Roger L; García-Closas, Montserrat; Chang-Claude, Jenny; Lindstrom, Sara; Bojesen, Stig E; Ahsan, Habibul; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Beeghly-Fadiel, Alicia; Benitez, Javier; Blomqvist, Carl; Bogdanova, Natalia V; Børresen-Dale, Anne-Lise; Brand, Judith; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Cai, Qiuyin; Casey, Graham; Chenevix-Trench, Georgia; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Dörk, Thilo; Dumont, Martine; Fasching, Peter A; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fostira, Florentia; Gammon, Marilie; Giles, Graham G; Guénel, Pascal; Haiman, Christopher A; Hamann, Ute; Harrington, Patricia; Hartman, Mikael; Hooning, Maartje J; Hopper, John L; Jakubowska, Anna; Jasmine, Farzana; John, Esther M; Johnson, Nichola; Kabisch, Maria; Khan, Sofia; Kibriya, Muhammad; Knight, Julia A; Kosma, Veli-Matti; Kriege, Mieke; Kristensen, Vessela; Le Marchand, Loic; Lee, Eunjung; Li, Jingmei; Lindblom, Annika; Lophatananon, Artitaya; Luben, Robert; Lubinski, Jan; Malone, Kathleen E; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Marme, Frederik; McLean, Catriona; Meijers-Heijboer, Hanne; Meindl, Alfons; Miao, Hui; Muir, Kenneth; Neuhausen, Susan L; Nevanlinna, Heli; Neven, Patrick; Olson, Janet E; Perkins, Barbara; Peterlongo, Paolo; Phillips, Kelly-Anne; Pylkäs, Katri; Rudolph, Anja; Santella, Regina; Sawyer, Elinor J; Schmutzler, Rita K; Schoemaker, Minouk; Shah, Mitul; Shrubsole, Martha; Southey, Melissa C; Swerdlow, Anthony J; Toland, Amanda E; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Ursin, Giske; Van Der Luijt, Rob B; Verhoef, Senno; Wang-Gohrke, Shan; Whittemore, Alice S; Winqvist, Robert; Pilar Zamora, M; Zhao, Hui; Dunning, Alison M; Simard, Jacques; Hall, Per; Kraft, Peter; Pharoah, Paul; Hunter, David; Easton, Douglas F; Zheng, Wei

    2016-05-01

    Type 2 diabetes (T2D) has been reported to be associated with an elevated risk of breast cancer. It is unclear, however, whether this association is due to shared genetic factors. We constructed a genetic risk score (GRS) using risk variants from 33 known independent T2D susceptibility loci and evaluated its relation to breast cancer risk using the data from two consortia, including 62,328 breast cancer patients and 83,817 controls of European ancestry. Unconditional logistic regression models were used to derive adjusted odds ratios (ORs) and 95 % confidence intervals (CIs) to measure the association of breast cancer risk with T2D GRS or T2D-associated genetic risk variants. Meta-analyses were conducted to obtain summary ORs across all studies. The T2D GRS was not found to be associated with breast cancer risk, overall, by menopausal status, or for estrogen receptor positive or negative breast cancer. Three T2D associated risk variants were individually associated with breast cancer risk after adjustment for multiple comparisons using the Bonferroni method (at p < 0.001), rs9939609 (FTO) (OR 0.94, 95 % CI = 0.92-0.95, p = 4.13E-13), rs7903146 (TCF7L2) (OR 1.04, 95 % CI = 1.02-1.06, p = 1.26E-05), and rs8042680 (PRC1) (OR 0.97, 95 % CI = 0.95-0.99, p = 8.05E-04). We have shown that several genetic risk variants were associated with the risk of both T2D and breast cancer. However, overall genetic susceptibility to T2D may not be related to breast cancer risk.

  16. European Strategy Preparatory Group - CALL FOR SUBMISSIONS

    CERN Document Server

    2012-01-01

    As part of the Update of the European Strategy for Particle Physics, the European Strategy Preparatory Group (ESPG) welcomes submissions on issues related to the strategy from individual physicists, from groups of scientists representing a community (an experiment, a topic of theoretical research, etc.) as well as from Institutions and Organizations (funding agencies, ministries, etc).   These contributions will be discussed at the meetings of the Preparatory Group and during the Open Symposium to be held on 10-12 September 2012 in Cracow, and will be made available to the Strategy Group for drafting the Update of the Strategy. How to submit a contribution? Send your contribution on the scientific issues below using the form under http://indico.cern.ch/event/espg_input (preferably as an attached PDF file): - Accelerator Physics - Astroparticle Physics, Gravitation and Cosmology - Flavour Physics and Symmetries - Physics at High Energy Frontier - Physics of Neutrinos - Strong Interaction Physics...

  17. Distribution of lithium in agricultural and grazing land soils at European continental scale (GEMAS project)

    Science.gov (United States)

    Negrel, Philippe; Reimann, Clemens; Ladenberger, Anna; Birke, Manfred

    2017-04-01

    The environmental chemistry of Li has received attention because Li has been shown to have numerous and important implications for human health and agriculture and the stable isotope composition of lithium is a powerful geochemical tool that provides quantitative information about Earth processes such as sediment recycling, global chemical weathering and its role in the carbon cycle, hydrothermal alteration, and groundwater evolution. However, the role of bedrock sources, weathering and climate changes in the repartition of Li at the continental scale has been scarcely investigated. Agricultural soil (Ap-horizon, 0-20 cm) and grazing land soil (Gr-horizon, 0-10 cm) samples were collected from a large part of Europe (33 countries, 5.6 million km2) as a part of the GEMAS (GEochemical Mapping of Agricultural and grazing land Soil) soil mapping project. GEMAS soil data have been used to provide a general view of element mobility and source rocks at the continental scale, either by reference to average crustal abundances or to normalized patterns of element mobility during weathering processes. The survey area includes a diverse group of soil parent materials with varying geological history, a wide range of climate zones and landscapes. The concentrations of Li in European soil were determined by ICP-MS after a hot aqua regia extraction, and their spatial distribution patterns generated by means of a GIS software. Due to the partial nature of the aqua regia extraction, the mean concentration of Li in the European agricultural soil (ca 11.4 mg/kg in Ap and Gr soils) is about four times lower than in the Earth's upper continental crust (UCC = 41 mg/kg). The combined plot histogram - density trace one- dimensional scattergram - boxplot of the aqua regia data displays the univariate data distribution of Li. The one-dimensional scattergram and boxplot highlight the existence of many outliers at the lower end of the Li distribution and very few at the upper end. Though the

  18. GWAS in an Amerindian ancestry population reveals novel systemic lupus erythematosus risk loci and the role of European admixture

    Science.gov (United States)

    Alarcón-Riquelme, Marta E.; Ziegler, Julie T.; Molineros, Julio; Howard, Timothy D.; Moreno-Estrada, Andrés; Sánchez-Rodríguez, Elena; Ainsworth, Hannah C.; Ortiz-Tello, Patricia; Comeau, Mary E.; Rasmussen, Astrid; Kelly, Jennifer A.; Adler, Adam; Acevedo-Vázquez, Eduardo; Cucho, Jorge Mariano; García-De la Torre, Ignacio; Cardiel, Mario H.; Miranda, Pedro; Catoggio, Luis; Maradiaga-Ceceña, Marco; Gaffney, Patrick; Vyse, Timothy; Criswell, Lindsey A.; Tsao, Betty P.; Sivils, Kathy L.; Bae, Sang-Cheol; James, Judith A.; Kimberly, Robert; Kaufman, Ken; Harley, John B.; Esquivel-Valerio, Jorge; Moctezuma, José F.; García, Mercedes A.; Berbotto, Guillermo; Babini, Alejandra; Scherbarth, Hugo; Toloza, Sergio; Baca, Vicente; Nath, Swapan K.; Salinas, Carlos Aguilar; Orozco, Lorena; Tusié-Luna, Teresa; Zidovetzki, Raphael; Pons-Estel, Bernardo A.; Langefeld, Carl D.; Jacob, Chaim O.

    2016-01-01

    OBJECTIVES Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with a strong genetic component. Our aim was to perform the first genome-wide association study on individuals from the Americas enriched for Native American heritage. MATERIALS and METHODS We analyzed 3,710 individuals from four countries of Latin America and the Unites States diagnosed with SLE and healthy controls. Samples were genotyped with the HumanOmni1 BeadChip. Data of out-of-study controls was obtained for the HumanOmni2.5. Statistical analyses were performed using SNPTEST and SNPGWA. Data was adjusted for genomic control and FDR. Imputation was done using IMPUTE2, and HiBAG for classical HLA alleles. RESULTS The IRF5-TNPO3 region showed the strongest association and largest odds ratio (OR) (rs10488631, Pgcadj = 2.61×10−29, OR = 2.12, 95% CI: 1.88–2.39) followed by the HLA class II on the DQA2-DQB1 loci (rs9275572, Pgcadj = 1.11 × 10−16, OR = 1.62, 95% CI: 1.46–1.80; rs9271366, Pgcadj=6.46 × 10−12, OR = 2.06, 95% CI: 1.71–2.50). Other known SLE loci associated were ITGAM, STAT4, TNIP1, NCF2 and IRAK1. We identified a novel locus on 10q24.33 (rs4917385, Pgcadj =1.4×10−8) with a eQTL effect (Peqtl=8.0 × 10−37 at USMG5/miR1307), and describe novel loci. We corroborate SLE-risk loci previously identified in European and Asians. Local ancestry estimation showed that HLA allele risk contribution is of European ancestral origin. Imputation of HLA alleles suggested that autochthonous Native American haplotypes provide protection. CONCLUSIONS Our results show the insight gained by studying admixed populations to delineate the genetic architecture that underlies autoimmune and complex diseases. PMID:26606652

  19. Smoking and Genetic Risk Variation across Populations of European, Asian, and African-American Ancestry - A Meta-analysis of Chromosome 15q25

    Science.gov (United States)

    Chen, Li-Shiun; Saccone, Nancy L.; Culverhouse, Robert C.; Bracci, Paige M.; Chen, Chien-Hsiun; Dueker, Nicole; Han, Younghun; Huang, Hongyan; Jin, Guangfu; Kohno, Takashi; Ma, Jennie Z.; Przybeck, Thomas R.; Sanders, Alan R.; Smith, Jennifer A.; Sung, Yun Ju; Wenzlaff, Angie S.; Wu, Chen; Yoon, Dankyu; Chen, Ying-Ting; Cheng, Yu-Ching; Cho, Yoon Shin; David, Sean P.; Duan, Jubao; Eaton, Charles B.; Furberg, Helena; Goate, Alison M.; Gu, Dongfeng; Hansen, Helen M.; Hartz, Sarah; Hu, Zhibin; Kim, Young Jin; Kittner, Steven J.; Levinson, Douglas F.; Mosley, Thomas H.; Payne, Thomas J.; Rao, DC; Rice, John P.; Rice, Treva K.; Schwantes-An, Tae-Hwi; Shete, Sanjay S.; Shi, Jianxin; Spitz, Margaret R.; Sun, Yan V.; Tsai, Fuu-Jen; Wang, Jen C.; Wrensch, Margaret R.; Xian, Hong; Gejman, Pablo V.; He, Jiang; Hunt, Steven C.; Kardia, Sharon L.; Li, Ming D.; Lin, Dongxin; Mitchell, Braxton D.; Park, Taesung; Schwartz, Ann G.; Shen, Hongbing; Wiencke, John K.; Wu, Jer-Yuarn; Yokota, Jun; Amos, Christopher I.; Bierut, Laura J.

    2012-01-01

    Recent meta-analyses of European ancestry subjects show strong evidence for association between smoking quantity and multiple genetic variants on chromosome 15q25. This meta-analysis extends the examination of association between distinct genes in the CHRNA5-CHRNA3-CHRNB4 region and smoking quantity to Asian and African American populations to confirm and refine specific reported associations. Association results for a dichotomized cigarettes smoked per day (CPD) phenotype in 27 datasets (European ancestry (N=14,786), Asian (N=6,889), and African American (N=10,912) for a total of 32,587 smokers) were meta-analyzed by population and results were compared across all three populations. We demonstrate association between smoking quantity and markers in the chromosome 15q25 region across all three populations, and narrow the region of association. Of the variants tested, only rs16969968 is associated with smoking (p < 0.01) in each of these three populations (OR=1.33, 95%C.I.=1.25–1.42, p=1.1×10−17 in meta-analysis across all population samples). Additional variants displayed a consistent signal in both European ancestry and Asian datasets, but not in African Americans. The observed consistent association of rs16969968 with heavy smoking across multiple populations, combined with its known biological significance, suggests rs16969968 is most likely a functional variant that alters risk for heavy smoking. We interpret additional association results that differ across populations as providing evidence for additional functional variants, but we are unable to further localize the source of this association. Using the cross-population study paradigm provides valuable insights to narrow regions of interest and inform future biological experiments. PMID:22539395

  20. Smoking and genetic risk variation across populations of European, Asian, and African American ancestry--a meta-analysis of chromosome 15q25.

    Science.gov (United States)

    Chen, Li-Shiun; Saccone, Nancy L; Culverhouse, Robert C; Bracci, Paige M; Chen, Chien-Hsiun; Dueker, Nicole; Han, Younghun; Huang, Hongyan; Jin, Guangfu; Kohno, Takashi; Ma, Jennie Z; Przybeck, Thomas R; Sanders, Alan R; Smith, Jennifer A; Sung, Yun Ju; Wenzlaff, Angie S; Wu, Chen; Yoon, Dankyu; Chen, Ying-Ting; Cheng, Yu-Ching; Cho, Yoon Shin; David, Sean P; Duan, Jubao; Eaton, Charles B; Furberg, Helena; Goate, Alison M; Gu, Dongfeng; Hansen, Helen M; Hartz, Sarah; Hu, Zhibin; Kim, Young Jin; Kittner, Steven J; Levinson, Douglas F; Mosley, Thomas H; Payne, Thomas J; Rao, D C; Rice, John P; Rice, Treva K; Schwantes-An, Tae-Hwi; Shete, Sanjay S; Shi, Jianxin; Spitz, Margaret R; Sun, Yan V; Tsai, Fuu-Jen; Wang, Jen C; Wrensch, Margaret R; Xian, Hong; Gejman, Pablo V; He, Jiang; Hunt, Steven C; Kardia, Sharon L; Li, Ming D; Lin, Dongxin; Mitchell, Braxton D; Park, Taesung; Schwartz, Ann G; Shen, Hongbing; Wiencke, John K; Wu, Jer-Yuarn; Yokota, Jun; Amos, Christopher I; Bierut, Laura J

    2012-05-01

    Recent meta-analyses of European ancestry subjects show strong evidence for association between smoking quantity and multiple genetic variants on chromosome 15q25. This meta-analysis extends the examination of association between distinct genes in the CHRNA5-CHRNA3-CHRNB4 region and smoking quantity to Asian and African American populations to confirm and refine specific reported associations. Association results for a dichotomized cigarettes smoked per day phenotype in 27 datasets (European ancestry (N = 14,786), Asian (N = 6,889), and African American (N = 10,912) for a total of 32,587 smokers) were meta-analyzed by population and results were compared across all three populations. We demonstrate association between smoking quantity and markers in the chromosome 15q25 region across all three populations, and narrow the region of association. Of the variants tested, only rs16969968 is associated with smoking (P < 0.01) in each of these three populations (odds ratio [OR] = 1.33, 95% CI = 1.25-1.42, P = 1.1 × 10(-17) in meta-analysis across all population samples). Additional variants displayed a consistent signal in both European ancestry and Asian datasets, but not in African Americans. The observed consistent association of rs16969968 with heavy smoking across multiple populations, combined with its known biological significance, suggests rs16969968 is most likely a functional variant that alters risk for heavy smoking. We interpret additional association results that differ across populations as providing evidence for additional functional variants, but we are unable to further localize the source of this association. Using the cross-population study paradigm provides valuable insights to narrow regions of interest and inform future biological experiments. © 2012 Wiley Periodicals, Inc.

  1. Genome-wide association study of alcohol use disorder identification test (AUDIT) scores in 20 328 research participants of European ancestry.

    OpenAIRE

    Sanchez-Roige, S; Fontanillas, P.; Elson, SL; 23andMe Research Team,; Gray, JC; De Wit, H.; Davis, LK; MacKillop, J.; Palmer, AA

    2017-01-01

    Genetic factors contribute to the risk for developing alcohol use disorder (AUD). In collaboration with the genetics company 23andMe, Inc., we performed a genome-wide association study of the alcohol use disorder identification test (AUDIT), an instrument designed to screen for alcohol misuse over the past year. Our final sample consisted of 20 328 research participants of European ancestry (55.3% females; mean age = 53.8, SD = 16.1) who reported ever using alcohol. Our results showed that th...

  2. Development of a panel of genome-wide ancestry informative markers to study admixture throughout the Americas.

    Directory of Open Access Journals (Sweden)

    Joshua Mark Galanter

    Full Text Available Most individuals throughout the Americas are admixed descendants of Native American, European, and African ancestors. Complex historical factors have resulted in varying proportions of ancestral contributions between individuals within and among ethnic groups. We developed a panel of 446 ancestry informative markers (AIMs optimized to estimate ancestral proportions in individuals and populations throughout Latin America. We used genome-wide data from 953 individuals from diverse African, European, and Native American populations to select AIMs optimized for each of the three main continental populations that form the basis of modern Latin American populations. We selected markers on the basis of locus-specific branch length to be informative, well distributed throughout the genome, capable of being genotyped on widely available commercial platforms, and applicable throughout the Americas by minimizing within-continent heterogeneity. We then validated the panel in samples from four admixed populations by comparing ancestry estimates based on the AIMs panel to estimates based on genome-wide association study (GWAS data. The panel provided balanced discriminatory power among the three ancestral populations and accurate estimates of individual ancestry proportions (R² > 0.9 for ancestral components with significant between-subject variance. Finally, we genotyped samples from 18 populations from Latin America using the AIMs panel and estimated variability in ancestry within and between these populations. This panel and its reference genotype information will be useful resources to explore population history of admixture in Latin America and to correct for the potential effects of population stratification in admixed samples in the region.

  3. Development of a Panel of Genome-Wide Ancestry Informative Markers to Study Admixture Throughout the Americas

    Science.gov (United States)

    Galanter, Joshua Mark; Fernandez-Lopez, Juan Carlos; Gignoux, Christopher R.; Barnholtz-Sloan, Jill; Fernandez-Rozadilla, Ceres; Via, Marc; Hidalgo-Miranda, Alfredo; Contreras, Alejandra V.; Figueroa, Laura Uribe; Raska, Paola; Jimenez-Sanchez, Gerardo; Silva Zolezzi, Irma; Torres, Maria; Ponte, Clara Ruiz; Ruiz, Yarimar; Salas, Antonio; Nguyen, Elizabeth; Eng, Celeste; Borjas, Lisbeth; Zabala, William; Barreto, Guillermo; Rondón González, Fernando; Ibarra, Adriana; Taboada, Patricia; Porras, Liliana; Moreno, Fabián; Bigham, Abigail; Gutierrez, Gerardo; Brutsaert, Tom; León-Velarde, Fabiola; Moore, Lorna G.; Vargas, Enrique; Cruz, Miguel; Escobedo, Jorge; Rodriguez-Santana, José; Rodriguez-Cintrón, William; Chapela, Rocio; Ford, Jean G.; Bustamante, Carlos; Seminara, Daniela; Shriver, Mark; Ziv, Elad; Gonzalez Burchard, Esteban; Haile, Robert

    2012-01-01

    Most individuals throughout the Americas are admixed descendants of Native American, European, and African ancestors. Complex historical factors have resulted in varying proportions of ancestral contributions between individuals within and among ethnic groups. We developed a panel of 446 ancestry informative markers (AIMs) optimized to estimate ancestral proportions in individuals and populations throughout Latin America. We used genome-wide data from 953 individuals from diverse African, European, and Native American populations to select AIMs optimized for each of the three main continental populations that form the basis of modern Latin American populations. We selected markers on the basis of locus-specific branch length to be informative, well distributed throughout the genome, capable of being genotyped on widely available commercial platforms, and applicable throughout the Americas by minimizing within-continent heterogeneity. We then validated the panel in samples from four admixed populations by comparing ancestry estimates based on the AIMs panel to estimates based on genome-wide association study (GWAS) data. The panel provided balanced discriminatory power among the three ancestral populations and accurate estimates of individual ancestry proportions (R2>0.9 for ancestral components with significant between-subject variance). Finally, we genotyped samples from 18 populations from Latin America using the AIMs panel and estimated variability in ancestry within and between these populations. This panel and its reference genotype information will be useful resources to explore population history of admixture in Latin America and to correct for the potential effects of population stratification in admixed samples in the region. PMID:22412386

  4. Vector Fields European user group meeting

    CERN Multimedia

    2007-01-01

    The "Vector Fields European user group meeting" will take place at CERN on 26 and 27 September 2007. Within this framework two workshops are organized at the CERN Training Centre: 24 September 2007
 Modelling Magnets with Opera 25 September 2007
Modelling of Charged Particle Beam Devices with Opera If you are interested in attending the workshop or the user group meeting please contact Julie Shepherd (Vector Fields) or Pierre Baehler (CERN) directly at: Julie.Shepherd@vectorfields.co.uk, +44 (0) 1865 854933 or +44 (0) 1865 370151 Pierre.Baehler@cern.ch, 75016 / 160156.

  5. Ancestry as a potential modifier of gene expression in breast tumors from Colombian women.

    Science.gov (United States)

    Serrano-Gómez, Silvia J; Sanabria-Salas, María Carolina; Garay, Jone; Baddoo, Melody C; Hernández-Suarez, Gustavo; Mejía, Juan Carlos; García, Oscar; Miele, Lucio; Fejerman, Laura; Zabaleta, Jovanny

    2017-01-01

    Hispanic/Latino populations are a genetically admixed and heterogeneous group, with variable fractions of European, Indigenous American and African ancestries. The molecular profile of breast cancer has been widely described in non-Hispanic Whites but equivalent knowledge is lacking in Hispanic/Latinas. We have previously reported that the most prevalent breast cancer intrinsic subtype in Colombian women was Luminal B as defined by St. Gallen 2013 criteria. In this study we explored ancestry-associated differences in molecular profiles of Luminal B tumors among these highly admixed women. We performed whole-transcriptome RNA-seq analysis in 42 Luminal tumors (21 Luminal A and 21 Luminal B) from Colombian women. Genetic ancestry was estimated from a panel of 80 ancestry-informative markers (AIM). We categorized patients according to Luminal subtype and to the proportion of European and Indigenous American ancestry and performed differential expression analysis comparing Luminal B against Luminal A tumors according to the assigned ancestry groups. We found 5 genes potentially modulated by genetic ancestry: ERBB2 (log2FC = 2.367, padjancestry (p = 0.02, B = 3.11). This association was not biased by the distribution of HER2+ tumors among the groups analyzed. Our results suggest that genetic ancestry in Hispanic/Latina women might modify ERBB2 gene expression in Luminal tumors. Further analyses are needed to confirm these findings and explore their prognostic value.

  6. Current plate motions. [continental groupings and global modelling

    Science.gov (United States)

    Demets, C.; Gordon, R. G.; Argus, D. F.; Stein, S.

    1990-01-01

    A global plate motion model, named NUVEL-1, which describes current plate motions between 12 rigid plates is described, with special attention given to the method, data, and assumptions used. Tectonic implications of the patterns that emerged from the results are discussed. It is shown that wide plate boundary zones can form not only within the continental lithosphere but also within the oceanic lithosphere; e.g., between the Indian and Australian plates and between the North American and South American plates. Results of the model also suggest small but significant diffuse deformation of the oceanic lithosphere, which may be confined to small awkwardly shaped salients of major plates.

  7. Ancestry and dental development: A geographic and genetic perspective.

    Science.gov (United States)

    Dhamo, Brunilda; Kragt, Lea; Grgic, Olja; Vucic, Strahinja; Medina-Gomez, Carolina; Rivadeneira, Fernando; Jaddoe, Vincent W V; Wolvius, Eppo B; Ongkosuwito, Edwin M

    2018-02-01

    In this study, we investigated the influence of ancestry on dental development in the Generation R Study. Information on geographic ancestry was available in 3,600 children (1,810 boys and 1,790 girls, mean age 9.81 ± 0.35 years) and information about genetic ancestry was available in 2,786 children (1,387 boys and 1,399 girls, mean age 9.82 ± 0.34 years). Dental development was assessed in all children using the Demirjian method. The associations of geographic ancestry (Cape Verdean, Moroccan, Turkish, Dutch Antillean, Surinamese Creole and Surinamese Hindustani vs Dutch as the reference group) and genetic content of ancestry (European, African or Asian) with dental development was analyzed using linear regression models. In a geographic perspective of ancestry, Moroccan (β = 0.18; 95% CI: 0.07, 0.28), Turkish (β = 0.22; 95% CI: 0.12, 0.32), Dutch Antillean (β = 0.27; 95% CI: 0.12, 0.41), and Surinamese Creole (β = 0.16; 95% CI: 0.03, 0.30) preceded Dutch children in dental development. Moreover, in a genetic perspective of ancestry, a higher proportion of European ancestry was associated with decelerated dental development (β = -0.32; 95% CI: -.44, -.20). In contrast, a higher proportion of African ancestry (β = 0.29; 95% CI: 0.16, 0.43) and a higher proportion of Asian ancestry (β = 0.28; 95% CI: 0.09, 0.48) were associated with accelerated dental development. When investigating only European children, these effect estimates increased to twice as large in absolute value. Based on a geographic and genetic perspective, differences in dental development exist in a population of heterogeneous ancestry and should be considered when describing the physiological growth in children. © 2017 The Authors American Journal of Physical Anthropology Published by Wiley Periodicals, Inc.

  8. Continental level landslide susceptibility assessment in the context of the European Union's Soil Thematic Strategy

    Science.gov (United States)

    Günther, A.; Van Den Eeckhaut, M.; Reichenbach, P.; Hervás, J.; Malet, J.; Guzzetti, F.

    2011-12-01

    In the context of the European Union's Soil Thematic Strategy, and the formulation of a draft of a European framework directive devoted to the sustainable protection of soil, landslides are recognized as one of the eight soil threats requiring harmonized spatial hazard assessments over the EU territory. The general framework for the harmonized assessment of soil threats (namely erosion, organic matter decline, salinisation, compaction, landslides, contamination, sealing and loss of biodiversity) consists of a nested geographical approach based on "Tiers", where a semi-quantitative, low-resolution (1:1 million) evaluation ("Tier 1") using already available pan-European datasets should enable the delineation of priority areas requiring more detailed quantitative inventory-based assessments with additional data ("Tier 2"). In this contribution, we present the elaboration of a continental level "Tier 1" generic landslide susceptibility model based on a heuristic, spatial multi-criteria evaluation (SMCE) approach exploiting the most important conditioning factors for landslides being slope gradient, lithology and land cover. Additionally, extensive landslide locations available at regional and national levels were collected, harmonized and standardized over the EU territory to obtain a signal for input parameter specification and model calibration, evaluation and classification. Since the analyzed area is highly complex in terms of climatic, physiographic and seismotectonic conditions controlling landslide occurrences, a terrain differentiation based on climatic and geomorphologic criteria is proposed to delineate distinct zones to which specific predictor class weights have been allocated through the SMCE approach for susceptibility evaluation. The heuristic indexing scheme is cross-validated with multivariate statistical evaluations in representative areas for which detailed inventory information is available. The resulting pan-European susceptibility estimate

  9. A quasi-exclusive European ancestry in the Senepol tropical cattle breed highlights the importance of the slick locus in tropical adaptation.

    Science.gov (United States)

    Flori, Laurence; Gonzatti, Mary Isabel; Thevenon, Sophie; Chantal, Isabelle; Pinto, Joar; Berthier, David; Aso, Pedro M; Gautier, Mathieu

    2012-01-01

    The Senepol cattle breed (SEN) was created in the early XX(th) century from a presumed cross between a European (EUT) breed (Red Poll) and a West African taurine (AFT) breed (N'Dama). Well adapted to tropical conditions, it is also believed trypanotolerant according to its putative AFT ancestry. However, such origins needed to be verified to define relevant husbandry practices and the genetic background underlying such adaptation needed to be characterized. We genotyped 153 SEN individuals on 47,365 SNPs and combined the resulting data with those available on 18 other populations representative of EUT, AFT and Zebu (ZEB) cattle. We found on average 89% EUT, 10.4% ZEB and 0.6% AFT ancestries in the SEN genome. We further looked for footprints of recent selection using standard tests based on the extent of haplotype homozygosity. We underlined i) three footprints on chromosome (BTA) 01, two of which are within or close to the polled locus underlying the absence of horns and ii) one footprint on BTA20 within the slick hair coat locus, involved in thermotolerance. Annotation of these regions allowed us to propose three candidate genes to explain the observed signals (TIAM1, GRIK1 and RAI14). Our results do not support the accepted concept about the AFT origin of SEN breed. Initial AFT ancestry (if any) might have been counter-selected in early generations due to breeding objectives oriented in particular toward meat production and hornless phenotype. Therefore, SEN animals are likely susceptible to African trypanosomes which questions the importation of SEN within the West African tsetse belt, as promoted by some breeding societies. Besides, our results revealed that SEN breed is predominantly a EUT breed well adapted to tropical conditions and confirmed the importance in thermotolerance of the slick locus.

  10. A quasi-exclusive European ancestry in the Senepol tropical cattle breed highlights the importance of the slick locus in tropical adaptation.

    Directory of Open Access Journals (Sweden)

    Laurence Flori

    Full Text Available BACKGROUND: The Senepol cattle breed (SEN was created in the early XX(th century from a presumed cross between a European (EUT breed (Red Poll and a West African taurine (AFT breed (N'Dama. Well adapted to tropical conditions, it is also believed trypanotolerant according to its putative AFT ancestry. However, such origins needed to be verified to define relevant husbandry practices and the genetic background underlying such adaptation needed to be characterized. METHODOLOGY/PRINCIPAL FINDINGS: We genotyped 153 SEN individuals on 47,365 SNPs and combined the resulting data with those available on 18 other populations representative of EUT, AFT and Zebu (ZEB cattle. We found on average 89% EUT, 10.4% ZEB and 0.6% AFT ancestries in the SEN genome. We further looked for footprints of recent selection using standard tests based on the extent of haplotype homozygosity. We underlined i three footprints on chromosome (BTA 01, two of which are within or close to the polled locus underlying the absence of horns and ii one footprint on BTA20 within the slick hair coat locus, involved in thermotolerance. Annotation of these regions allowed us to propose three candidate genes to explain the observed signals (TIAM1, GRIK1 and RAI14. CONCLUSIONS/SIGNIFICANCE: Our results do not support the accepted concept about the AFT origin of SEN breed. Initial AFT ancestry (if any might have been counter-selected in early generations due to breeding objectives oriented in particular toward meat production and hornless phenotype. Therefore, SEN animals are likely susceptible to African trypanosomes which questions the importation of SEN within the West African tsetse belt, as promoted by some breeding societies. Besides, our results revealed that SEN breed is predominantly a EUT breed well adapted to tropical conditions and confirmed the importance in thermotolerance of the slick locus.

  11. Shallow water tides over the European continental shelf : what improvments can we expect from satellite altimetry?

    Science.gov (United States)

    Letellier, T.; Le Provost, C.; Lyard, F.

    2003-04-01

    Ocean tides have been intensively studied at the global scale during the last decade. Their knowledge has been greatly improved thanks to satellite altimetry and assimilation of these data in new hydrodynamic models. Over the continental shelves and coastal areas, however, larger uncertainties remains in the description of the tides. The accuracy of the main constituents (M2, S2, N2, ...) is still limited to a ten of cm, by contrast to the cm level reached for the deep ocean. For the non linear constituents, only a few studies have addressed the question: how spatial altimetry data can be used to improve our knowledge over the major shallow water areas of the world ocean? Our aim is here to investigate these questions by focusing on the European shelf. We have now more than ten years of Topex/Poseidon data, followed by JASON1, and ERS+ENVISAT altimetric mission. From these data sets, we have performed along track and cross over analyses to investigate the accuracy of the tidal constituents, especially non linear constituents. It has been demonstrated, among other things, how this accuracy can be improved by using more elaborated "inverse barometer" correction based on a hydrodynamic model simulating the response of the sea level to high frequency atmospheric forcing. Over the shallow water areas, the horizontal scales of the non linear tidal components are greatly reduced, as the square root of the depth in relation with their propagation speed, and proportionally to their time period for the higher constituents (M4, MS4, ...). The spatial resolution of the altimetric mission is then a limiting factor for precise description of these constituents. Hence the interest of assimilating these data in a hydrodynamic model. Following the approach developed by our group for the global ocean (the "FES" Finite Element ocean tide Solutions series, that have been produced over the recent years), such assimilation exercises have been performed and qualified. The portability of

  12. Genome-wide methylation patterns provide insight into differences in breast tumor biology between American women of African and European ancestry.

    Science.gov (United States)

    Ambrosone, Christine B; Young, Allyson C; Sucheston, Lara E; Wang, Dan; Yan, Li; Liu, Song; Tang, Li; Hu, Qiang; Freudenheim, Jo L; Shields, Peter G; Morrison, Carl D; Demissie, Kitaw; Higgins, Michael J

    2014-01-15

    American women of African ancestry (AA) are more likely than European-Americans (EA) to be diagnosed with aggressive, estrogen receptor (ER) negative breast tumors; mechanisms underlying these disparities are poorly understood. We conducted a genome wide (450K loci) methylation analysis to determine if there were differences in DNA methylation patterns between tumors from AA and EA women and if these differences were similar for both ER positive and ER negative breast cancer. Methylation levels at CpG loci within CpG islands (CGI)s and CGI-shores were significantly higher in tumors (n=138) than in reduction mammoplasty samples (n=124). In hierarchical cluster analysis, there was separation between tumor and normal samples, and in tumors, there was delineation by ER status, but not by ancestry. However, differential methylation analysis identified 157 CpG loci with a mean β value difference of at least 0.17 between races, with almost twice as many differences in ER-negative tumors compared to ER-positive cancers. This first genome-wide methylation study to address disparities indicates that there are likely differing etiologic pathways for the development of ER negative breast cancer between AA and EA women. Further investigation of the genes most differentially methylated by race in ER negative tumors can guide new approaches for cancer prevention and targeted therapies, and elucidate the biologic basis of breast cancer disparities.

  13. Genetic ancestry and risk of mortality among U.S. Latinas with breast cancer

    OpenAIRE

    Fejerman, Laura; Hu, Donglei; Huntsman, Scott; John, Esther M.; Stern, Mariana C.; Haiman, Christopher A.; Pérez-Stable, Eliseo J.; Ziv, Elad

    2013-01-01

    Multiple studies have reported that Latina women in the U.S. are diagnosed with breast cancer at more advanced stages and have poorer survival than non-Latina White women. However, Latinas are a heterogeneous group with individuals having different proportions of European, Indigenous American and African genetic ancestry. In this study we evaluated the association between genetic ancestry and survival after breast cancer diagnosis among 899 Latina women from the San Francisco Bay Area. Geneti...

  14. Social-group identity and population substructure in admixed populations in New Mexico and Latin America.

    Science.gov (United States)

    Healy, Meghan E; Hill, Deirdre; Berwick, Marianne; Edgar, Heather; Gross, Jessica; Hunley, Keith

    2017-01-01

    We examined the relationship between continental-level genetic ancestry and racial and ethnic identity in an admixed population in New Mexico with the goal of increasing our understanding of how racial and ethnic identity influence genetic substructure in admixed populations. Our sample consists of 98 New Mexicans who self-identified as Hispanic or Latino (NM-HL) and who further categorized themselves by race and ethnic subgroup membership. The genetic data consist of 270 newly-published autosomal microsatellites from the NM-HL sample and previously published data from 57 globally distributed populations, including 13 admixed samples from Central and South America. For these data, we 1) summarized the major axes of genetic variation using principal component analyses, 2) performed tests of Hardy Weinberg equilibrium, 3) compared empirical genetic ancestry distributions to those predicted under a model of admixture that lacked substructure, 4) tested the hypotheses that individuals in each sample had 100%, 0%, and the sample-mean percentage of African, European, and Native American ancestry. We found that most NM-HL identify themselves and their parents as belonging to one of two groups, conforming to a region-specific narrative that distinguishes recent immigrants from Mexico from individuals whose families have resided in New Mexico for generations and who emphasize their Spanish heritage. The "Spanish" group had significantly lower Native American ancestry and higher European ancestry than the "Mexican" group. Positive FIS values, PCA plots, and heterogeneous ancestry distributions suggest that most Central and South America admixed samples also contain substructure, and that this substructure may be related to variation in social identity. Genetic substructure appears to be common in admixed populations in the Americas and may confound attempts to identify disease-causing genes and to understand the social causes of variation in health outcomes and social

  15. Social-group identity and population substructure in admixed populations in New Mexico and Latin America.

    Directory of Open Access Journals (Sweden)

    Meghan E Healy

    Full Text Available We examined the relationship between continental-level genetic ancestry and racial and ethnic identity in an admixed population in New Mexico with the goal of increasing our understanding of how racial and ethnic identity influence genetic substructure in admixed populations. Our sample consists of 98 New Mexicans who self-identified as Hispanic or Latino (NM-HL and who further categorized themselves by race and ethnic subgroup membership. The genetic data consist of 270 newly-published autosomal microsatellites from the NM-HL sample and previously published data from 57 globally distributed populations, including 13 admixed samples from Central and South America. For these data, we 1 summarized the major axes of genetic variation using principal component analyses, 2 performed tests of Hardy Weinberg equilibrium, 3 compared empirical genetic ancestry distributions to those predicted under a model of admixture that lacked substructure, 4 tested the hypotheses that individuals in each sample had 100%, 0%, and the sample-mean percentage of African, European, and Native American ancestry. We found that most NM-HL identify themselves and their parents as belonging to one of two groups, conforming to a region-specific narrative that distinguishes recent immigrants from Mexico from individuals whose families have resided in New Mexico for generations and who emphasize their Spanish heritage. The "Spanish" group had significantly lower Native American ancestry and higher European ancestry than the "Mexican" group. Positive FIS values, PCA plots, and heterogeneous ancestry distributions suggest that most Central and South America admixed samples also contain substructure, and that this substructure may be related to variation in social identity. Genetic substructure appears to be common in admixed populations in the Americas and may confound attempts to identify disease-causing genes and to understand the social causes of variation in health outcomes

  16. Comparing genetic ancestry and self-reported race/ethnicity in a ...

    Indian Academy of Sciences (India)

    two of the three ancestral groups, i.e. European, African and. Native American. Europeans were sampled from Utah resi- dents with ancestry from northern and western Europe while. Africans from Yoruba in Nigeria. Native American samples were from western United States, Mexico and Central Amer- ica. These AIMs were ...

  17. Ongoing unraveling of a continental fauna: decline and extinction of Australian mammals since European settlement.

    Science.gov (United States)

    Woinarski, John C Z; Burbidge, Andrew A; Harrison, Peter L

    2015-04-14

    The highly distinctive and mostly endemic Australian land mammal fauna has suffered an extraordinary rate of extinction (>10% of the 273 endemic terrestrial species) over the last ∼200 y: in comparison, only one native land mammal from continental North America became extinct since European settlement. A further 21% of Australian endemic land mammal species are now assessed to be threatened, indicating that the rate of loss (of one to two extinctions per decade) is likely to continue. Australia's marine mammals have fared better overall, but status assessment for them is seriously impeded by lack of information. Much of the loss of Australian land mammal fauna (particularly in the vast deserts and tropical savannas) has been in areas that are remote from human population centers and recognized as relatively unmodified at global scale. In contrast to general patterns of extinction on other continents where the main cause is habitat loss, hunting, and impacts of human development, particularly in areas of high and increasing human population pressures, the loss of Australian land mammals is most likely due primarily to predation by introduced species, particularly the feral cat, Felis catus, and European red fox, Vulpes vulpes, and changed fire regimes.

  18. Ongoing unraveling of a continental fauna: Decline and extinction of Australian mammals since European settlement

    Science.gov (United States)

    Woinarski, John C. Z.; Burbidge, Andrew A.; Harrison, Peter L.

    2015-01-01

    The highly distinctive and mostly endemic Australian land mammal fauna has suffered an extraordinary rate of extinction (>10% of the 273 endemic terrestrial species) over the last ∼200 y: in comparison, only one native land mammal from continental North America became extinct since European settlement. A further 21% of Australian endemic land mammal species are now assessed to be threatened, indicating that the rate of loss (of one to two extinctions per decade) is likely to continue. Australia’s marine mammals have fared better overall, but status assessment for them is seriously impeded by lack of information. Much of the loss of Australian land mammal fauna (particularly in the vast deserts and tropical savannas) has been in areas that are remote from human population centers and recognized as relatively unmodified at global scale. In contrast to general patterns of extinction on other continents where the main cause is habitat loss, hunting, and impacts of human development, particularly in areas of high and increasing human population pressures, the loss of Australian land mammals is most likely due primarily to predation by introduced species, particularly the feral cat, Felis catus, and European red fox, Vulpes vulpes, and changed fire regimes. PMID:25675493

  19. Ancestry as a potential modifier of gene expression in breast tumors from Colombian women.

    Directory of Open Access Journals (Sweden)

    Silvia J Serrano-Gómez

    Full Text Available Hispanic/Latino populations are a genetically admixed and heterogeneous group, with variable fractions of European, Indigenous American and African ancestries. The molecular profile of breast cancer has been widely described in non-Hispanic Whites but equivalent knowledge is lacking in Hispanic/Latinas. We have previously reported that the most prevalent breast cancer intrinsic subtype in Colombian women was Luminal B as defined by St. Gallen 2013 criteria. In this study we explored ancestry-associated differences in molecular profiles of Luminal B tumors among these highly admixed women.We performed whole-transcriptome RNA-seq analysis in 42 Luminal tumors (21 Luminal A and 21 Luminal B from Colombian women. Genetic ancestry was estimated from a panel of 80 ancestry-informative markers (AIM. We categorized patients according to Luminal subtype and to the proportion of European and Indigenous American ancestry and performed differential expression analysis comparing Luminal B against Luminal A tumors according to the assigned ancestry groups.We found 5 genes potentially modulated by genetic ancestry: ERBB2 (log2FC = 2.367, padj<0.01, GRB7 (log2FC = 2.327, padj<0.01, GSDMB (log2FC = 1.723, padj<0.01, MIEN1 (log2FC = 2.195, padj<0.01 and ONECUT2 (log2FC = 2.204, padj<0.01. In the replication set we found a statistical significant association between ERBB2 expression with Indigenous American ancestry (p = 0.02, B = 3.11. This association was not biased by the distribution of HER2+ tumors among the groups analyzed.Our results suggest that genetic ancestry in Hispanic/Latina women might modify ERBB2 gene expression in Luminal tumors. Further analyses are needed to confirm these findings and explore their prognostic value.

  20. The impact of self-reported ethnicity versus genetic ancestry on phenotypic characteristics of polycystic ovary syndrome (PCOS).

    Science.gov (United States)

    Louwers, Y V; Lao, O; Fauser, B C J M; Kayser, M; Laven, J S E

    2014-10-01

    It is well established that ethnicity is associated with the phenotype of polycystic ovary syndrome (PCOS). Self-reported ethnicity was shown to be an inaccurate proxy for ethnic origin in other disease traits, and it remains unclear how in PCOS patients self-reported ethnicity compares with a biological proxy such as genetic ancestry. We compared the impact of self-reported ethnicity versus genetic ancestry on PCOS and tested which of these 2 classifications better predicts the variability in phenotypic characteristics of PCOS. A total of 1499 PCOS patients from The Netherlands, comprising 11 self-reported ethnic groups of European, African, American, and Asian descent were genotyped with the Illumina 610K Quad BeadChip and merged with the data genotyped with the Illumina HumanHap650K available for the reference panel collected by the Human Genome Diversity Project (HGDP), in a collaboration with the Centre Etude Polymorphism Humain (CEPH), including 53 populations for ancestry reference. Algorithms for inferring genetic relationships among individuals, including multidimensional scaling and ADMIXTURE, were applied to recover genetic ancestry for each individual. Regression analysis was used to determine the best predictor for the variability in PCOS characteristics. The association between self-reported ethnicity and genetic ancestry was moderate. For amenorrhea, total follicle count, body mass index, SHBG, dehydroepiandrosterone sulfate, and insulin, mainly genetic ancestry clusters ended up in the final models (P values ancestry. Self-reported ancestry is not a perfect proxy for genetic ancestry in patients with PCOS, emphasizing that by using genetic ancestry data instead of self-reported ethnicity, PCOS-relevant misclassification can be avoided. Moreover, because genetic ancestry explained a larger proportion of phenotypic variability associated with PCOS than self-reported ethnicity, future studies should focus on genetic ancestry verification of PCOS

  1. The sensitivity of the northwest European continental shelf ecosystem to anthropogenic pressures

    Science.gov (United States)

    Wakelin, Sarah; Artioli, Yuri; Holt, Jason; Butenschön, Momme

    2013-04-01

    Anthropogenic pressure is exerted on ecosystems in several ways, through direct drivers such as eutrophication and levels of fishing effort and by changes in the physical environment brought about by climate change. Changes in water temperature, the timing and duration of seasonal stratification, circulation patterns and ocean-shelf exchange all impact on shelf-sea primary production. We use a coupled hydrodynamics-ecosystem model (POLCOMS-ERSEM) to study ecosystem sensitivity to climate change and the anthropogenic drivers of river nutrient loads, impacting on eutrophication, and trawling effort on the northwest European continental shelf, with an emphasis on changes in the North Sea. To force the model we use data from a coupled ocean-atmosphere global model (IPSL-CM4) representative of conditions in the recent past (1983-2000) and possible conditions in the near future (2030-2040) under a business as usual emissions scenario SRES A1B. To study ecosystem sensitivity to direct anthropogenic forcing, we adopt two scenarios impacting on river nutrient loads and trawling effort - one where there is rapid economic growth and limited environmental policies and a second where economic growth is constrained by environmental objectives. The sensitivity of the system to each single driver: climate change, increase in river nutrient loads, decrease in river nutrient loads and reduction in trawling effort is explored. The response of the ecosystem to the combined effects of changes in multiple drivers under the two scenarios of economic growth is also studied. The results are relevant to the Marine Strategy Framework Directive descriptors on marine food webs, eutrophication and biodiversity.

  2. Biogeographical ancestry and race.

    Science.gov (United States)

    Gannett, Lisa

    2014-09-01

    The use of racial and ethnic categories in biological and biomedical research is controversial-for example, in the comparison of disease risk in different groups or as a means of making use of or controlling for population structure in the mapping of genes to chromosomes. Biogeographical ancestry (BGA) has been recommended as a more accurate and appropriate category. BGA is a product of the collaboration between biological anthropologist Mark Shriver from Pennsylvania State University and molecular biologist Tony Frudakis from the now-defunct biotechnology start-up company DNAPrint genomics, Inc. Shriver and Frudakis portray BGA as a measure of the 'biological', 'genetic', 'natural', and 'objective' components of race and ethnicity, what philosophers of science would call a natural kind. This paper argues that BGA is not a natural kind that escapes social and political connotations of race and ethnicity, as Shriver and Frudakis and other proponents believe, but a construction that is built upon race-as race has been socially constructed in the European scientific and philosophical traditions. More specifically, BGA is not a global category of biological and anthropological classification but a local category shaped by the U.S. context of its production, especially the forensic aim of being able to predict the race or ethnicity of an unknown suspect based on DNA found at the crime scene. Therefore, caution needs to be exercised in the embrace of BGA as an alternative to the use of racial and ethnic categories in biological and biomedical research. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. Physical activity modifies the effect of LPL, LIPC, and CETP polymorphisms on HDL-C levels and the risk of myocardial infarction in women of European ancestry.

    Science.gov (United States)

    Ahmad, Tariq; Chasman, Daniel I; Buring, Julie E; Lee, I-Min; Ridker, Paul M; Everett, Brendan M

    2011-02-01

    Recent genome-wide association studies have identified common variants associated with high-density lipoprotein cholesterol (HDL-C). Whether these associations are modified by physical activity, which increases HDL-C levels and reduces the risk of cardiovascular disease, is uncertain. In a prospective cohort study of 22 939 apparently healthy US women of European ancestry, we selected 58 single nucleotide polymorphisms (SNPs) in 9 genes that demonstrated genome-wide association (Pwomen, whereas the reverse was observed for rs10096633 at LPL. Minor-allele carrier status at the LPL SNP was associated with a reduced risk of myocardial infarction in active (hazard ratio, 0.51; 95% confidence interval 0.30-0.86) but not among inactive women (hazard ratio 1.13; 95% confidence interval 0.79 to 1.61; P-interaction=0.007). By contrast, carrier status at the CETP SNP was associated with a reduced risk of myocardial infarction regardless of activity level (hazard ratio, 0.72; 95% confidence interval, 0.57 to 0.92; P-interaction=0.71). No association between LIPC SNP carrier status and myocardial infarction risk was noted. The effects of common variants in the LPL, LIPC, and CETP genes on HDL-C levels are modified by physical activity. For a common variant in LPL, the impact on myocardial infarction varied by activity level, whereas the effects of a common variant in CETP on myocardial infarction risk did not.

  4. Dietary intakes of Pacific ethnic groups and European people.

    Science.gov (United States)

    Metcalf, P A; Scragg, R R K; Sundborn, G; Jackson, R

    2014-03-01

    To compare dietary intakes, food servings, and cooking practices of Pacific ethnic groups with New Zealand Europeans. Daily nutrient intakes were calculated from a self-administered food frequency questionnaire from a cross-sectional health screening study. Participants were Pacific (n=954) and New Zealand European (n=1.745) people aged 35 to 74 years. Total energy intakes in Samoan and Niuean men were higher than European men, while for women, total energy intakes were significantly higher in all Pacific ethnic groups compared to New Zealand European women. Pacific men and women had lower alcohol and calcium intakes compared to New Zealand Europeans, and Pacific men had higher protein and cholesterol intakes. Pacific adults reported eating more servings of fish, chicken and bread, fewer servings of cheese and breakfast cereal per month, and boiled their meat more often than European adults. Substantial differences in dietary habits and cooking practices exist between European and the different Pacific adult groups mainly related to the frequency of consumption of certain food/nutrient groups and greater serving sizes in Pacific compared to New Zealand European adults. Implications Strategies targeting serving sizes and frequency of consumption of specific food groups may help address the major ethnic disparities in nutrition-related health problems in New Zealand.

  5. Common Variants in 8q24 and MYC Oncogene are Associated with Risk for Prostate Cancer and Tumor Aggressiveness in Men of European Ancestry

    Science.gov (United States)

    Pal, Prodipto; Xi, Huifeng; Guha, Saurav; Sun, Guangyun; Helfand, Brian T.; Meeks, Joshua J.; Suarez, Brian K.; Catalona, William J.; Deka, Ranjan

    2013-01-01

    BACKGROUND Recent whole genome association studies have independently identified multiple prostate cancer (PC) risk variants on 8q24. We have evaluated association of common variants in this region with PC susceptibility and tumor aggressiveness in a sample of European American men. METHODS Forty-nine tagging SNPs including three previously reported significant variants (rs1447295, rs6983267, rs16901979) and seven variants in the 5′ upstream region of the MYC proto-oncogene were tested for association with susceptibility to PC and tumor aggressiveness in 596 histologically verified PC cases and 567 ethnically matched controls. RESULTS Significant associations with susceptibility to PC were found at 17 SNPs, four of which (rs1016342, rs1378897, rs871135 and rs6470517) remained significant after adjusting for multiple corrections. One of the associated SNPs, rs871135, is located in the putative gene POU5F1P1 within the 8q24 region. An in slico analysis showed that the associated variant of this SNP alters a transcription factor implicating a plausible regulatory role. Additionally, one of the significantly associated SNPs, rs6470517, with PC susceptibility showed a significant over-representation of the G allele in cases with aggressive tumor. CONCLUSIONS Although this study does not directly confirm associations of the three specific SNPs (cited above), it corroborates reported signals of association in 8q24 reaffirming that genetic variation on 8q24 influences susceptibility to PC in men of European ancestry. Although our study did not confirm the allelic association of rs1447295, meta-analysis of this SNP provided support to previous reported associations. Further, this study implicates the 8q24 region with aggressive forms of PC. PMID:19562729

  6. Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.

    Science.gov (United States)

    Schormair, Barbara; Zhao, Chen; Bell, Steven; Tilch, Erik; Salminen, Aaro V; Pütz, Benno; Dauvilliers, Yves; Stefani, Ambra; Högl, Birgit; Poewe, Werner; Kemlink, David; Sonka, Karel; Bachmann, Cornelius G; Paulus, Walter; Trenkwalder, Claudia; Oertel, Wolfgang H; Hornyak, Magdolna; Teder-Laving, Maris; Metspalu, Andres; Hadjigeorgiou, Georgios M; Polo, Olli; Fietze, Ingo; Ross, Owen A; Wszolek, Zbigniew; Butterworth, Adam S; Soranzo, Nicole; Ouwehand, Willem H; Roberts, David J; Danesh, John; Allen, Richard P; Earley, Christopher J; Ondo, William G; Xiong, Lan; Montplaisir, Jacques; Gan-Or, Ziv; Perola, Markus; Vodicka, Pavel; Dina, Christian; Franke, Andre; Tittmann, Lukas; Stewart, Alexandre F R; Shah, Svati H; Gieger, Christian; Peters, Annette; Rouleau, Guy A; Berger, Klaus; Oexle, Konrad; Di Angelantonio, Emanuele; Hinds, David A; Müller-Myhsok, Bertram; Winkelmann, Juliane

    2017-11-01

    Restless legs syndrome is a prevalent chronic neurological disorder with potentially severe mental and physical health consequences. Clearer understanding of the underlying pathophysiology is needed to improve treatment options. We did a meta-analysis of genome-wide association studies (GWASs) to identify potential molecular targets. In the discovery stage, we combined three GWAS datasets (EU-RLS GENE, INTERVAL, and 23andMe) with diagnosis data collected from 2003 to 2017, in face-to-face interviews or via questionnaires, and involving 15 126 cases and 95 725 controls of European ancestry. We identified common variants by fixed-effect inverse-variance meta-analysis. Significant genome-wide signals (p≤5 × 10 -8 ) were tested for replication in an independent GWAS of 30 770 cases and 286 913 controls, followed by a joint analysis of the discovery and replication stages. We did gene annotation, pathway, and gene-set-enrichment analyses and studied the genetic correlations between restless legs syndrome and traits of interest. We identified and replicated 13 new risk loci for restless legs syndrome and confirmed the previously identified six risk loci. MEIS1 was confirmed as the strongest genetic risk factor for restless legs syndrome (odds ratio 1·92, 95% CI 1·85-1·99). Gene prioritisation, enrichment, and genetic correlation analyses showed that identified pathways were related to neurodevelopment and highlighted genes linked to axon guidance (associated with SEMA6D), synapse formation (NTNG1), and neuronal specification (HOXB cluster family and MYT1). Identification of new candidate genes and associated pathways will inform future functional research. Advances in understanding of the molecular mechanisms that underlie restless legs syndrome could lead to new treatment options. We focused on common variants; thus, additional studies are needed to dissect the roles of rare and structural variations. Deutsche Forschungsgemeinschaft, Helmholtz Zentrum

  7. Identification, Replication, and Fine-Mapping of Loci Associated with Adult Height in Individuals of African Ancestry

    Science.gov (United States)

    Ge, Bing; Tayo, Bamidele; Mathias, Rasika A.; Ding, Jingzhong; Nalls, Michael A.; Adeyemo, Adebowale; Adoue, Véronique; Ambrosone, Christine B.; Atwood, Larry; Bandera, Elisa V.; Becker, Lewis C.; Berndt, Sonja I.; Bernstein, Leslie; Blot, William J.; Boerwinkle, Eric; Britton, Angela; Casey, Graham; Chanock, Stephen J.; Demerath, Ellen; Deming, Sandra L.; Diver, W. Ryan; Fox, Caroline; Harris, Tamara B.; Hernandez, Dena G.; Hu, Jennifer J.; Ingles, Sue A.; John, Esther M.; Johnson, Craig; Keating, Brendan; Kittles, Rick A.; Kolonel, Laurence N.; Kritchevsky, Stephen B.; Le Marchand, Loic; Lohman, Kurt; Liu, Jiankang; Millikan, Robert C.; Murphy, Adam; Musani, Solomon; Neslund-Dudas, Christine; North, Kari E.; Nyante, Sarah; Ogunniyi, Adesola; Ostrander, Elaine A.; Papanicolaou, George; Patel, Sanjay; Pettaway, Curtis A.; Press, Michael F.; Redline, Susan; Rodriguez-Gil, Jorge L.; Rotimi, Charles; Rybicki, Benjamin A.; Salako, Babatunde; Schreiner, Pamela J.; Signorello, Lisa B.; Singleton, Andrew B.; Stanford, Janet L.; Stram, Alex H.; Stram, Daniel O.; Strom, Sara S.; Suktitipat, Bhoom; Thun, Michael J.; Witte, John S.; Yanek, Lisa R.; Ziegler, Regina G.; Zheng, Wei; Zhu, Xiaofeng; Zmuda, Joseph M.; Zonderman, Alan B.; Evans, Michele K.; Liu, Yongmei; Becker, Diane M.; Cooper, Richard S.; Pastinen, Tomi; Henderson, Brian E.; Hirschhorn, Joel N.; Lettre, Guillaume; Haiman, Christopher A.

    2011-01-01

    Adult height is a classic polygenic trait of high heritability (h 2 ∼0.8). More than 180 single nucleotide polymorphisms (SNPs), identified mostly in populations of European descent, are associated with height. These variants convey modest effects and explain ∼10% of the variance in height. Discovery efforts in other populations, while limited, have revealed loci for height not previously implicated in individuals of European ancestry. Here, we performed a meta-analysis of genome-wide association (GWA) results for adult height in 20,427 individuals of African ancestry with replication in up to 16,436 African Americans. We found two novel height loci (Xp22-rs12393627, P = 3.4×10−12 and 2p14-rs4315565, P = 1.2×10−8). As a group, height associations discovered in European-ancestry samples replicate in individuals of African ancestry (P = 1.7×10−4 for overall replication). Fine-mapping of the European height loci in African-ancestry individuals showed an enrichment of SNPs that are associated with expression of nearby genes when compared to the index European height SNPs (P<0.01). Our results highlight the utility of genetic studies in non-European populations to understand the etiology of complex human diseases and traits. PMID:21998595

  8. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.

    Directory of Open Access Journals (Sweden)

    Amidou N'Diaye

    2011-10-01

    Full Text Available Adult height is a classic polygenic trait of high heritability (h(2 approximately 0.8. More than 180 single nucleotide polymorphisms (SNPs, identified mostly in populations of European descent, are associated with height. These variants convey modest effects and explain approximately10% of the variance in height. Discovery efforts in other populations, while limited, have revealed loci for height not previously implicated in individuals of European ancestry. Here, we performed a meta-analysis of genome-wide association (GWA results for adult height in 20,427 individuals of African ancestry with replication in up to 16,436 African Americans. We found two novel height loci (Xp22-rs12393627, P = 3.4×10(-12 and 2p14-rs4315565, P = 1.2×10(-8. As a group, height associations discovered in European-ancestry samples replicate in individuals of African ancestry (P = 1.7×10(-4 for overall replication. Fine-mapping of the European height loci in African-ancestry individuals showed an enrichment of SNPs that are associated with expression of nearby genes when compared to the index European height SNPs (P<0.01. Our results highlight the utility of genetic studies in non-European populations to understand the etiology of complex human diseases and traits.

  9. Interest group satisfaction with the European Commission's consultation agendas

    DEFF Research Database (Denmark)

    Hermansson, Henrik Alf Jonas

    2016-01-01

    interest groups, unique issue-level data on the expertise held by interest groups, their privileged access and their resources, this paper evaluates whether it is the technical information provided by groups, their insider status or their ability to put pressure on the European institutions that form......Interest groups exist largely to raise awareness of particular problems or to avoid regulation by keeping items off the political agenda, it is a major component of their raison d'être. At the earliest stages of the European policy process, the European Commission presents an agenda in the form...... of a "call for consultation" which interest groups attempt to influence. Groups that have had a role in setting the Commission's agenda will likely show most satisfaction with the agenda, used here as a way to examine their agenda-setting power. Based on a novel dataset covering 190 policy issues and 469...

  10. Genome-wide association study of alcohol use disorder identification test (AUDIT) scores in 20 328 research participants of European ancestry.

    Science.gov (United States)

    Sanchez-Roige, Sandra; Fontanillas, Pierre; Elson, Sarah L; Gray, Joshua C; de Wit, Harriet; Davis, Lea K; MacKillop, James; Palmer, Abraham A

    2017-10-23

    Genetic factors contribute to the risk for developing alcohol use disorder (AUD). In collaboration with the genetics company 23andMe, Inc., we performed a genome-wide association study of the alcohol use disorder identification test (AUDIT), an instrument designed to screen for alcohol misuse over the past year. Our final sample consisted of 20 328 research participants of European ancestry (55.3% females; mean age = 53.8, SD = 16.1) who reported ever using alcohol. Our results showed that the 'chip-heritability' of AUDIT score, when treated as a continuous phenotype, was 12%. No loci reached genome-wide significance. The gene ADH1C, which has been previously implicated in AUD, was among our most significant associations (4.4 × 10-7 ; rs141973904). We also detected a suggestive association on chromosome 1 (2.1 × 10-7 ; rs182344113) near the gene KCNJ9, which has been implicated in mouse models of high ethanol drinking. Using linkage disequilibrium score regression, we identified positive genetic correlations between AUDIT score, high alcohol consumption and cigarette smoking. We also observed an unexpected positive genetic correlation between AUDIT and educational attainment and additional unexpected negative correlations with body mass index/obesity and attention-deficit/hyperactivity disorder. We conclude that conducting a genetic study using responses to an online questionnaire in a population not ascertained for AUD may represent a cost-effective strategy for elucidating aspects of the etiology of AUD. © 2017 Society for the Study of Addiction.

  11. GAGA: a new algorithm for genomic inference of geographic ancestry reveals fine level population substructure in Europeans.

    Directory of Open Access Journals (Sweden)

    Oscar Lao

    2014-02-01

    Full Text Available Attempts to detect genetic population substructure in humans are troubled by the fact that the vast majority of the total amount of observed genetic variation is present within populations rather than between populations. Here we introduce a new algorithm for transforming a genetic distance matrix that reduces the within-population variation considerably. Extensive computer simulations revealed that the transformed matrix captured the genetic population differentiation better than the original one which was based on the T1 statistic. In an empirical genomic data set comprising 2,457 individuals from 23 different European subpopulations, the proportion of individuals that were determined as a genetic neighbour to another individual from the same sampling location increased from 25% with the original matrix to 52% with the transformed matrix. Similarly, the percentage of genetic variation explained between populations by means of Analysis of Molecular Variance (AMOVA increased from 1.62% to 7.98%. Furthermore, the first two dimensions of a classical multidimensional scaling (MDS using the transformed matrix explained 15% of the variance, compared to 0.7% obtained with the original matrix. Application of MDS with Mclust, SPA with Mclust, and GemTools algorithms to the same dataset also showed that the transformed matrix gave a better association of the genetic clusters with the sampling locations, and particularly so when it was used in the AMOVA framework with a genetic algorithm. Overall, the new matrix transformation introduced here substantially reduces the within population genetic differentiation, and can be broadly applied to methods such as AMOVA to enhance their sensitivity to reveal population substructure. We herewith provide a publically available (http://www.erasmusmc.nl/fmb/resources/GAGA model-free method for improved genetic population substructure detection that can be applied to human as well as any other species data in future

  12. GAGA: a new algorithm for genomic inference of geographic ancestry reveals fine level population substructure in Europeans.

    Science.gov (United States)

    Lao, Oscar; Liu, Fan; Wollstein, Andreas; Kayser, Manfred

    2014-02-01

    Attempts to detect genetic population substructure in humans are troubled by the fact that the vast majority of the total amount of observed genetic variation is present within populations rather than between populations. Here we introduce a new algorithm for transforming a genetic distance matrix that reduces the within-population variation considerably. Extensive computer simulations revealed that the transformed matrix captured the genetic population differentiation better than the original one which was based on the T1 statistic. In an empirical genomic data set comprising 2,457 individuals from 23 different European subpopulations, the proportion of individuals that were determined as a genetic neighbour to another individual from the same sampling location increased from 25% with the original matrix to 52% with the transformed matrix. Similarly, the percentage of genetic variation explained between populations by means of Analysis of Molecular Variance (AMOVA) increased from 1.62% to 7.98%. Furthermore, the first two dimensions of a classical multidimensional scaling (MDS) using the transformed matrix explained 15% of the variance, compared to 0.7% obtained with the original matrix. Application of MDS with Mclust, SPA with Mclust, and GemTools algorithms to the same dataset also showed that the transformed matrix gave a better association of the genetic clusters with the sampling locations, and particularly so when it was used in the AMOVA framework with a genetic algorithm. Overall, the new matrix transformation introduced here substantially reduces the within population genetic differentiation, and can be broadly applied to methods such as AMOVA to enhance their sensitivity to reveal population substructure. We herewith provide a publically available (http://www.erasmusmc.nl/fmb/resources/GAGA) model-free method for improved genetic population substructure detection that can be applied to human as well as any other species data in future studies relevant to

  13. Shared additive genetic influences on DSM-IV criteria for alcohol dependence in subjects of European ancestry.

    Science.gov (United States)

    Palmer, Rohan H C; McGeary, John E; Heath, Andrew C; Keller, Matthew C; Brick, Leslie A; Knopik, Valerie S

    2015-12-01

    Genetic studies of alcohol dependence (AD) have identified several candidate loci and genes, but most observed effects are small and difficult to reproduce. A plausible explanation for inconsistent findings may be a violation of the assumption that genetic factors contributing to each of the seven DSM-IV criteria point to a single underlying dimension of risk. Given that recent twin studies suggest that the genetic architecture of AD is complex and probably involves multiple discrete genetic factors, the current study employed common single nucleotide polymorphisms in two multivariate genetic models to examine the assumption that the genetic risk underlying DSM-IV AD is unitary. AD symptoms and genome-wide single nucleotide polymorphism (SNP) data from 2596 individuals of European descent from the Study of Addiction: Genetics and Environment were analyzed using genomic-relatedness-matrix restricted maximum likelihood. DSM-IV AD symptom covariance was described using two multivariate genetic factor models. Common SNPs explained 30% (standard error=0.136, P=0.012) of the variance in AD diagnosis. Additive genetic effects varied across AD symptoms. The common pathway model approach suggested that symptoms could be described by a single latent variable that had a SNP heritability of 31% (0.130, P=0.008). Similarly, the exploratory genetic factor model approach suggested that the genetic variance/covariance across symptoms could be represented by a single genetic factor that accounted for at least 60% of the genetic variance in any one symptom. Additive genetic effects on DSM-IV alcohol dependence criteria overlap. The assumption of common genetic effects across alcohol dependence symptoms appears to be a valid assumption. © 2015 Society for the Study of Addiction.

  14. MHC-Dependent Mate Selection within 872 Spousal Pairs of European Ancestry from the Health and Retirement Study

    Directory of Open Access Journals (Sweden)

    Zhen Qiao

    2018-01-01

    Full Text Available Disassortative mating refers to the phenomenon in which individuals with dissimilar genotypes and/or phenotypes mate with one another more frequently than would be expected by chance. Although the existence of disassortative mating is well established in plant and animal species, the only documented example of negative assortment in humans involves dissimilarity at the major histocompatibility complex (MHC locus. Previous studies investigating mating patterns at the MHC have been hampered by limited sample size and contradictory findings. Inspired by the sparse and conflicting evidence, we investigated the role that the MHC region played in human mate selection using genome-wide association data from 872 European American spouses from the Health and Retirement Study (HRS. First, we treated the MHC region as a whole, and investigated genomic similarity between spouses using three levels of genomic variation: single-nucleotide polymorphisms (SNPs, classical human leukocyte antigen (HLA alleles (both four-digit and two-digit classifications, and amino acid polymorphisms. The extent of MHC dissimilarity between spouses was assessed using a permutation approach. Second, we investigated fine scale mating patterns by testing for deviations from random mating at individual SNPs, HLA genes, and amino acids in HLA molecules. Third, we assessed how extreme the spousal relatedness at the MHC region was compared to the rest of the genome, to distinguish the MHC-specific effects from genome-wide effects. We show that neither the MHC region, nor any single SNPs, classic HLA alleles, or amino acid polymorphisms within the MHC region, were significantly dissimilar between spouses relative to non-spouse pairs. However, dissimilarity in the MHC region was extreme relative to the rest of genome for both spousal and non-spouse pairs. Despite the long-standing controversy, our analyses did not support a significant role of MHC dissimilarity in human mate choice.

  15. Interaction between common breast cancer susceptibility variants, genetic ancestry, and nongenetic risk factors in Hispanic women.

    Science.gov (United States)

    Fejerman, Laura; Stern, Mariana C; John, Esther M; Torres-Mejía, Gabriela; Hines, Lisa M; Wolff, Roger K; Baumgartner, Kathy B; Giuliano, Anna R; Ziv, Elad; Pérez-Stable, Eliseo J; Slattery, Martha L

    2015-11-01

    Most genetic variants associated with breast cancer risk have been discovered in women of European ancestry, and only a few genome-wide association studies (GWAS) have been conducted in minority groups. This research disparity persists in post-GWAS gene-environment interaction analyses. We tested the interaction between hormonal and lifestyle risk factors for breast cancer, and ten GWAS-identified SNPs among 2,107 Hispanic women with breast cancer and 2,587 unaffected controls, to gain insight into a previously reported gene by ancestry interaction in this population. We estimated genetic ancestry with a set of 104 ancestry-informative markers selected to discriminate between Indigenous American and European ancestry. We used logistic regression models to evaluate main effects and interactions. We found that the rs13387042-2q35(G/A) SNP was associated with breast cancer risk only among postmenopausal women who never used hormone therapy [per A allele OR: 0.94 (95% confidence intervals, 0.74-1.20), 1.20 (0.94-1.53), and 1.49 (1.28-1.75) for current, former, and never hormone therapy users, respectively, Pinteraction 0.002] and premenopausal women who breastfed >12 months [OR: 1.01 (0.72-1.42), 1.19 (0.98-1.45), and 1.69 (1.26-2.26) for never, 12 months breastfeeding, respectively, Pinteraction 0.014]. The correlation between genetic ancestry, hormone replacement therapy use, and breastfeeding behavior partially explained a previously reported interaction between a breast cancer risk variant and genetic ancestry in Hispanic women. These results highlight the importance of understanding the interplay between genetic ancestry, genetics, and nongenetic risk factors and their contribution to breast cancer risk. ©2015 American Association for Cancer Research.

  16. Genetic ancestry and risk of mortality among U.S. Latinas with breast cancer.

    Science.gov (United States)

    Fejerman, Laura; Hu, Donglei; Huntsman, Scott; John, Esther M; Stern, Mariana C; Haiman, Christopher A; Pérez-Stable, Eliseo J; Ziv, Elad

    2013-12-15

    Multiple studies have reported that Latina women in the United States are diagnosed with breast cancer at more advanced stages and have poorer survival than non-Latina White women. However, Latinas are a heterogeneous group with individuals having different proportions of European, Indigenous American, and African genetic ancestry. In this study, we evaluated the association between genetic ancestry and survival after breast cancer diagnosis among 899 Latina women from the San Francisco Bay area. Genetic ancestry was estimated from single-nucleotide polymorphisms from an Affymetrix 6.0 array and we used Cox proportional hazards models to evaluate the association between genetic ancestry and breast cancer-specific mortality (tests were two-sided). Women were followed for an average of 9 years during which 75 died from breast cancer. Our results showed that Individuals with higher Indigenous American ancestry had increased risk of breast cancer-specific mortality [HR: 1.57 per 25% increase in Indigenous American ancestry; 95% confidence interval (CI): 1.08-2.29]. Adjustment for demographic factors, tumor characteristics, and some treatment information did not explain the observed association (HR: 1.75; 95%CI, 1.12-2.74). In an analysis in which ancestry was dichotomized, the hazard of mortality showed a two-fold increase when comparing women with less than 50% Indigenous American ancestry to women with 50% or more [HR, 1.89, 95%CI, 1.10-3.24]. This was also reflected by Kaplan-Meier survival estimates (P for log-rank test of 0.003). Overall, results suggest that genetic factors and/or unmeasured differences in treatment or access to care should be further explored to understand and reduce ethnic disparities in breast cancer outcomes. ©2013 AACR.

  17. European Mitochondrial DNA Haplogroups are Associated with Cerebrospinal Fluid Biomarkers of Inflammation in HIV Infection

    Science.gov (United States)

    Samuels, David C.; Kallianpur, Asha R.; Ellis, Ronald J.; Bush, William S.; Letendre, Scott; Franklin, Donald; Grant, Igor; Hulgan, Todd

    2017-01-01

    Background Mitochondrial DNA (mtDNA) haplogroups are ancestry-related patterns of single-nucleotide polymorphisms that are associated with differential mitochondrial function in model systems, neurodegenerative diseases in HIV-negative populations, and chronic complications of HIV infection, including neurocognitive impairment. We hypothesized that mtDNA haplogroups are associated with neuroinflammation in HIV-infected adults. Methods CNS HIV Antiretroviral Therapy Effects Research (CHARTER) is a US-based observational study of HIV-infected adults who underwent standardized neurocognitive assessments. Participants who consented to DNA collection underwent whole blood mtDNA sequencing, and a subset also underwent lumbar puncture. IL-6, IL-8, TNF-α (high-sensitivity), and IP-10 were measured in cerebrospinal fluid (CSF) by immunoassay. Multivariable regression of mtDNA haplogroups and log-transformed CSF biomarkers were stratified by genetic ancestry using whole-genome nuclear DNA genotyping (European [EA], African [AA], or Hispanic ancestry [HA]), and adjusted for age, sex, antiretroviral therapy (ART), detectable CSF HIV RNA, and CD4 nadir. A total of 384 participants had both CSF cytokine measures and genetic data (45% EA, 44% AA, 11% HA, 22% female, median age 43 years, 74% on ART). Results In analyses stratified by the 3 continental ancestry groups, no haplogroups were significantly associated with the 4 biomarkers. In the subgroup of participants with undetectable plasma HIV RNA on ART, European haplogroup H participants had significantly lower CSF TNF-α (P = 0.001). Conclusions Lower CSF TNF-α may indicate lower neuroinflammation in the haplogroup H participants with well-controlled HIV on ART. PMID:28317034

  18. Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry.

    Science.gov (United States)

    Huo, Dezheng; Zheng, Yonglan; Ogundiran, Temidayo O; Adebamowo, Clement; Nathanson, Katherine L; Domchek, Susan M; Rebbeck, Timothy R; Simon, Michael S; John, Esther M; Hennis, Anselm; Nemesure, Barbara; Wu, Suh-Yuh; Leske, M Cristina; Ambs, Stefan; Niu, Qun; Zhang, Jing; Cox, Nancy J; Olopade, Olufunmilayo I

    2012-04-01

    Multiple breast cancer susceptibility loci have been identified in genome-wide association studies (GWAS) in populations of European and Asian ancestry using array chips optimized for populations of European ancestry. It is important to examine whether these loci are associated with breast cancer risk in women of African ancestry. We evaluated 25 single nucleotide polymorphisms (SNPs) at 19 loci in a pooled case-control study of breast cancer, which included 1509 cases and 1383 controls. Cases and controls were enrolled in Nigeria, Barbados and the USA; all women were of African ancestry. We found significant associations for three SNPs, which were in the same direction and of similar magnitude as those reported in previous fine-mapping studies in women of African ancestry. The allelic odds ratios were 1.24 [95% confidence interval (CI): 1.04-1.47; P = 0.018] for the rs2981578-G allele (10q26/FGFR2), 1.34 (95% CI: 1.10-1.63; P = 0.0035) for the rs9397435-G allele (6q25) and 1.12 (95% CI: 1.00-1.25; P = 0.04) for the rs3104793-C allele (16q12). Although a significant association was observed for an additional index SNP (rs3817198), it was in the opposite direction to prior GWAS studies. In conclusion, this study highlights the complexity of applying current GWAS findings across racial/ethnic groups, as none of GWAS-identified index SNPs could be replicated in women of African ancestry. Further fine-mapping studies in women of African ancestry will be needed to reveal additional and causal variants for breast cancer.

  19. LAIT: a local ancestry inference toolkit.

    Science.gov (United States)

    Hui, Daniel; Fang, Zhou; Lin, Jerome; Duan, Qing; Li, Yun; Hu, Ming; Chen, Wei

    2017-09-06

    Inferring local ancestry in individuals of mixed ancestry has many applications, most notably in identifying disease-susceptible loci that vary among different ethnic groups. Many software packages are available for inferring local ancestry in admixed individuals. However, most of these existing software packages require specific formatted input files and generate output files in various types, yielding practical inconvenience. We developed a tool set, Local Ancestry Inference Toolkit (LAIT), which can convert standardized files into software-specific input file formats as well as standardize and summarize inference results for four popular local ancestry inference software: HAPMIX, LAMP, LAMP-LD, and ELAI. We tested LAIT using both simulated and real data sets and demonstrated that LAIT provides convenience to run multiple local ancestry inference software. In addition, we evaluated the performance of local ancestry software among different supported software packages, mainly focusing on inference accuracy and computational resources used. We provided a toolkit to facilitate the use of local ancestry inference software, especially for users with limited bioinformatics background.

  20. Ancestry dependent DNA methylation and influence of maternal nutrition.

    Directory of Open Access Journals (Sweden)

    Khyobeni Mozhui

    Full Text Available There is extensive variation in DNA methylation between individuals and ethnic groups. These differences arise from a combination of genetic and non-genetic influences and potential modifiers include nutritional cues, early life experience, and social and physical environments. Here we compare genome-wide DNA methylation in neonatal cord blood from African American (AA; N = 112 and European American (EA; N = 91 participants of the CANDLE Study (Conditions Affecting Neurocognitive Development and Learning in Early Childhood. Our goal is to determine if there are replicable ancestry-specific methylation patterns that may implicate risk factors for diseases that have differential prevalence between populations. To identify the most robust ancestry-specific CpG sites, we replicate our results in lymphoblastoid cell lines from Yoruba African and CEPH European panels of HapMap. We also evaluate the influence of maternal nutrition--specifically, plasma levels of vitamin D and folate during pregnancy--on methylation in newborns. We define stable ancestry-dependent methylation of genes that include tumor suppressors and cell cycle regulators (e.g., APC, BRCA1, MCC. Overall, there is lower global methylation in African ancestral groups. Plasma levels of 25-hydroxy vitamin D are also considerably lower among AA mothers and about 60% of AA and 40% of EA mothers have concentrations below 20 ng/ml. Using a weighted correlation analysis, we define a network of CpG sites that is jointly modulated by ancestry and maternal vitamin D. Our results show that differences in DNA methylation patterns are remarkably stable and maternal micronutrients can exert an influence on the child epigenome.

  1. Public Administration Education in a Continental European Legalistic Setting: The Hungarian Case

    Science.gov (United States)

    Gellén, Márton

    2014-01-01

    The Trans-European Dialogue in 2013 was dedicated to the revisiting of the research undertaken by György Hajnal in 2003 (Hajnal, 2003) on public administration education in Europe. As part of the preparations to the conference, Hajnal also revisited his research after 10 years. The findings presented on the conference offer a theoretical framework…

  2. Interaction between common breast cancer susceptibility variants, genetic ancestry, and non-genetic risk factors in Hispanic women

    Science.gov (United States)

    Fejerman, Laura; Stern, Mariana C.; John, Esther M.; Torres-Mejía, Gabriela; Hines, Lisa M.; Wolff, Roger K.; Baumgartner, Kathy B.; Giuliano, Anna R.; Ziv, Elad; Pérez-Stable, Eliseo J.; Slattery, Martha L.

    2015-01-01

    Background Most genetic variants associated with breast cancer risk have been discovered in women of European ancestry, and only a few genome-wide association studies (GWAS) have been conducted in minority groups. This research disparity persists in post-GWAS gene-environment interaction analyses. We tested the interaction between hormonal and lifestyle risk factors for breast cancer, and ten GWAS-identified single nucleotide polymorphisms (SNPs) among 2,107 Hispanic women with breast cancer and 2,587 unaffected controls, to gain insight into a previously reported gene by ancestry interaction in this population. Methods We estimated genetic ancestry with a set of 104 ancestry-informative markers selected to discriminate between Indigenous American and European ancestry. We used logistic regression models to evaluate main effects and interactions. Results We found that the rs13387042-2q35(G/A) SNP was associated with breast cancer risk only among postmenopausal women who never used hormone therapy [per A allele odds ratio (OR): 0.94 (95% confidence interval 0.74–1.20), 1.20 (0.94–1.53) and 1.49 (1.28–1.75) for current, former and never hormone therapy users, respectively, P-interaction 0.002] and premenopausal women who breastfed >12 months [OR: 1.01 (0.72–1.42), 1.19 (0.98–1.45) and 1.69 (1.26–2.26) for never, 12 months breastfeeding, respectively, P-interaction 0.014]. Conclusions The correlation between genetic ancestry, hormone replacement therapy use, and breastfeeding behavior partially explained a previously reported interaction between a breast cancer risk variant and genetic ancestry in Hispanic women. Impact These results highlight the importance of understanding the interplay between genetic ancestry, genetics, and non-genetic risk factors and their contribution to breast cancer risk. PMID:26364163

  3. 32nd European Study Group with Industry, Final Report

    DEFF Research Database (Denmark)

    ESGI (European Study Group with Industry) is Europe's leading workshop for interaction between mathematicians and industry. These workshops have taken place in Great Britain for a number of years, going back to 1968 when Prof. Alan Tayler initiated the so-called Oxford Study Group with Industry...... expertise.Danfoss wanted a an analysis and optimization of a scroll compressor.DANISCO wanted a model for the heat and moisture transport in sugar silos.Danish Maritime Institute wanted to optimize a dynamical position system in order to keep a wessel stationary on the surface of the ocean.Grundfos wanted...

  4. Association of DXA-derived bone mineral density and fat mass with African ancestry.

    Science.gov (United States)

    Ochs-Balcom, Heather M; Preus, Leah; Wactawski-Wende, Jean; Nie, Jing; Johnson, Nicholas A; Zakharia, Fouad; Tang, Hua; Carlson, Chris; Carty, Cara; Chen, Zhao; Hoffman, Thomas; Hutter, Carolyn M; Jackson, Rebecca D; Kaplan, Robert C; Li, Li; Liu, Song; Neuhouser, Marian L; Peters, Ulrike; Robbins, John; Seldin, Michael F; Thornton, Timothy A; Thompson, Cheryl L; Kooperberg, Charles; Sucheston, Lara E

    2013-04-01

    Both genes and environment have been implicated in determining the complex body composition phenotypes in individuals of European ancestry; however, few studies have been conducted in other race/ethnic groups. We conducted a genome-wide admixture mapping study in an attempt to localize novel genomic regions associated with genetic ancestry. We selected a sample of 842 African-American women from the Women's Health Initiative single nucleotide polymorphism (SNP) Health Association Resource for whom several dual-energy X-ray absorptiometry (DXA)-derived bone mineral density (BMD) and fat mass phenotypes were available. We derived both global and local ancestry estimates for each individual from Affymetrix 6.0 data and analyzed the correlation of DXA phenotypes with global African ancestry. For each phenotype, we examined the association of local genetic ancestry (number of African ancestral alleles at each marker) and each DXA phenotype at 570 282 markers across the genome in additive models with adjustment for important covariates. We identified statistically significant correlations of whole-body fat mass, trunk fat mass, and all 6 measures of BMD with a proportion of African ancestry. Genome-wide (admixture) significance for femoral neck BMD was achieved across 2 regions ∼3.7 MB and 0.3 MB on chromosome 19q13; similarly, total hip and intertrochanter BMD were associated with local ancestry in these regions. Trunk fat was the most significant fat mass phenotype showing strong, but not genomewide significant associations on chromosome Xp22. Our results suggest that genomic regions in postmenopausal African-American women contribute to variance in BMD and fat mass existence and warrant further study.

  5. Operational oil spill trajectory modelling using HF radar currents: A northwest European continental shelf case study.

    Science.gov (United States)

    Abascal, Ana J; Sanchez, Jorge; Chiri, Helios; Ferrer, María I; Cárdenas, Mar; Gallego, Alejandro; Castanedo, Sonia; Medina, Raúl; Alonso-Martirena, Andrés; Berx, Barbara; Turrell, William R; Hughes, Sarah L

    2017-06-15

    This paper presents a novel operational oil spill modelling system based on HF radar currents, implemented in a northwest European shelf sea. The system integrates Open Modal Analysis (OMA), Short Term Prediction algorithms (STPS) and an oil spill model to simulate oil spill trajectories. A set of 18 buoys was used to assess the accuracy of the system for trajectory forecast and to evaluate the benefits of HF radar data compared to the use of currents from a hydrodynamic model (HDM). The results showed that simulated trajectories using OMA currents were more accurate than those obtained using a HDM. After 48h the mean error was reduced by 40%. The forecast skill of the STPS method was valid up to 6h ahead. The analysis performed shows the benefits of HF radar data for operational oil spill modelling, which could be easily implemented in other regions with HF radar coverage. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

  6. Associations between common variants in iron-related genes with haematological traits in populations of African ancestry

    NARCIS (Netherlands)

    Gichohi-Wainaina, W.N.; Tanaka, T.; Towers, Wayne; Verhoef, J.C.M.; Veenemans, J.; Talsma, E.F.; Harryvan, J.L.; Boekschoten, M.V.; Feskens, E.J.M.; Melse-Boonstra, A.

    2016-01-01

    Background Large genome-wide association (GWA) studies of European ancestry individuals have identified multiple genetic variants influencing iron status. Studies on the generalizability of these associations to African ancestry populations have been limited. These studies are important given

  7. Genetic ancestry in relation to the metabolic response to a US versus traditional Mexican diet: a randomized crossover feeding trial among women of Mexican descent.

    Science.gov (United States)

    Santiago-Torres, M; De Dieu Tapsoba, J; Kratz, M; Lampe, J W; Breymeyer, K L; Levy, L; Song, X; Villaseñor, A; Wang, C-Y; Fejerman, L; Neuhouser, M L; Carlson, C S

    2017-03-01

    Certain populations with a large proportion of indigenous American (IA) genetic ancestry may be evolutionarily adapted to traditional diets high in legumes and complex carbohydrates, and may have a detrimental metabolic response to US diets high in refined carbohydrates and added sugars. We tested whether IA ancestry modified the metabolic response to a US versus traditional Mexican diet in a controlled dietary intervention. First and second generation Mexican immigrant women (n=53) completed a randomized crossover feeding trial testing the effects of a US versus traditional Mexican diet. The metabolic response to the diets was measured by fasting serum concentrations of glucose, insulin, insulin-like growth factor-1 (IGF-1), IGF-binding protein-3 (IGFBP-3), adiponectin, C-reactive protein, interleukin-6 and computed homeostasis model assessment for insulin resistance (HOMA IR ). Blood collected at baseline was used for genotyping, and estimation of African, European and IA ancestries with the use of 214 ancestry informative markers. The genetic ancestral background was 56% IA, 38% European and 6% African. Women in the highest IA ancestry tertile (>62%) were shorter in height, less educated and less acculturated to the US lifestyle, and tended to have higher waist-to-hip ratio compared with women in the middle and lowest IA ancestry tertiles, respectively. Compared with the US diet, the traditional Mexican diet tended to reduce glucose, insulin, IGF-1, IGFBP-3 and HOMA IR among women in the middle IA ancestry group (IA ancestry ⩽45-62%), whereas having no effect on biomarkers related to inflammation. We observed modest interactions between IA ancestry and the metabolic response to a US versus traditional Mexican diet among Mexican immigrant women.

  8. The Relationship between Native American Ancestry, Body Mass Index and Diabetes Risk among Mexican-Americans.

    Directory of Open Access Journals (Sweden)

    Hao Hu

    Full Text Available Higher body mass index (BMI is a well-established risk factor for type 2 diabetes, and rates of obesity and type 2 diabetes are substantially higher among Mexican-Americans relative to non-Hispanic European Americans. Mexican-Americans are genetically diverse, with a highly variable distribution of Native American, European, and African ancestries. Here, we evaluate the role of Native American ancestry on BMI and diabetes risk in a well-defined Mexican-American population. Participants were randomly selected among individuals residing in the Houston area who are enrolled in the Mexican-American Cohort study. Using a custom Illumina GoldenGate Panel, we genotyped DNA from 4,662 cohort participants for 87 Ancestry-Informative Markers. On average, the participants were of 50.2% Native American ancestry, 42.7% European ancestry and 7.1% African ancestry. Using multivariate linear regression, we found BMI and Native American ancestry were inversely correlated; individuals with 80% Native American ancestry. Furthermore, we demonstrated an interaction between BMI and Native American ancestry in diabetes risk among women; Native American ancestry was a strong risk factor for diabetes only among overweight and obese women (OR = 1.190 for each 10% increase in Native American ancestry. This study offers new insight into the complex relationship between obesity, genetic ancestry, and their respective effects on diabetes risk. Findings from this study may improve the diabetes risk prediction among Mexican-American individuals thereby facilitating targeted prevention strategies.

  9. Socioeconomic and nutritional factors account for the association of gastric cancer with Amerindian ancestry in a Latin American admixed population.

    Directory of Open Access Journals (Sweden)

    Latife Pereira

    Full Text Available Gastric cancer is one of the most lethal types of cancer and its incidence varies worldwide, with the Andean region of South America showing high incidence rates. We evaluated the genetic structure of the population from Lima (Peru and performed a case-control genetic association study to test the contribution of African, European, or Native American ancestry to risk for gastric cancer, controlling for the effect of non-genetic factors. A wide set of socioeconomic, dietary, and clinic information was collected for each participant in the study and ancestry was estimated based on 103 ancestry informative markers. Although the urban population from Lima is usually considered as mestizo (i.e., admixed from Africans, Europeans, and Native Americans, we observed a high fraction of Native American ancestry (78.4% for the cases and 74.6% for the controls and a very low African ancestry (<5%. We determined that higher Native American individual ancestry is associated with gastric cancer, but socioeconomic factors associated both with gastric cancer and Native American ethnicity account for this association. Therefore, the high incidence of gastric cancer in Peru does not seem to be related to susceptibility alleles common in this population. Instead, our result suggests a predominant role for ethnic-associated socioeconomic factors and disparities in access to health services. Since Native Americans are a neglected group in genomic studies, we suggest that the population from Lima and other large cities from Western South America with high Native American ancestry background may be convenient targets for epidemiological studies focused on this ethnic group.

  10. Maternal oxygen delivery is not related to altitude- and ancestry-associated differences in human fetal growth.

    Science.gov (United States)

    Zamudio, Stacy; Postigo, Lucrecia; Illsley, Nicholas P; Rodriguez, Carmelo; Heredia, Gladys; Brimacombe, Michael; Echalar, Lourdes; Torricos, Tatiana; Tellez, Wilma; Maldonado, Ivan; Balanza, Elfride; Alvarez, Tatiana; Ameller, Julio; Vargas, Enrique

    2007-07-15

    Fetal growth is reduced at high altitude, but the decrease is less among long-resident populations. We hypothesized that greater maternal uteroplacental O(2) delivery would explain increased fetal growth in Andean natives versus European migrants to high altitude. O(2) delivery was measured with ultrasound, Doppler and haematological techniques. Participants (n=180) were pregnant women of self-professed European or Andean ancestry living at 3600 m or 400 m in Bolivia. Ancestry was quantified using ancestry-informative single nucleotide polymorphism. The altitude-associated decrement in birth weight was 418 g in European versus 236 g in Andean women (P<0.005). Altitude was associated with decreased uterine artery diameter, volumetric blood flow and O(2) delivery regardless of ancestry. But the hypothesis was rejected as O(2) delivery was similar between ancestry groups at their respective altitudes of residence. Instead, Andean neonates were larger and heavier per unit of O(2) delivery, regardless of altitude (P<0.001). European admixture among Andeans was negatively correlated with birth weight at both altitudes (P<0.01), but admixture was not related to any of the O(2) transport variables. Genetically mediated differences in maternal O(2) delivery are thus unlikely to explain the Andean advantage in fetal growth. Of the other independent variables, only placental weight and gestational age explained significant variation in birth weight. Thus greater placental efficiency in O(2) and nutrient transport, and/or greater fetal efficiency in substrate utilization may contribute to ancestry- and altitude-related differences in fetal growth. Uterine artery O(2) delivery in these pregnancies was 99 +/- 3 ml min(-1), approximately 5-fold greater than near-term fetal O(2) consumption. Deficits in maternal O(2) transport in third trimester normal pregnancy are unlikely to be causally associated with variation in fetal growth.

  11. Accuracy of administratively-assigned ancestry for diverse populations in an electronic medical record-linked biobank.

    Directory of Open Access Journals (Sweden)

    Jacob B Hall

    Full Text Available Recently, the development of biobanks linked to electronic medical records has presented new opportunities for genetic and epidemiological research. Studies based on these resources, however, present unique challenges, including the accurate assignment of individual-level population ancestry. In this work we examine the accuracy of administratively-assigned race in diverse populations by comparing assigned races to genetically-defined ancestry estimates. Using 220 ancestry informative markers, we generated principal components for patients in our dataset, which were used to cluster patients into groups based on genetic ancestry. Consistent with other studies, we find a strong overall agreement (Kappa  = 0.872 between genetic ancestry and assigned race, with higher rates of agreement for African-descent and European-descent assignments, and reduced agreement for Hispanic, East Asian-descent, and South Asian-descent assignments. These results suggest caution when selecting study samples of non-African and non-European backgrounds when administratively-assigned race from biobanks is used.

  12. Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.

    Science.gov (United States)

    Yan, Denise; Xiang, Guangxin; Chai, Xingping; Qing, Jie; Shang, Haiqiong; Zou, Bing; Mittal, Rahul; Shen, Jun; Smith, Richard J H; Fan, Yao-Shan; Blanton, Susan H; Tekin, Mustafa; Morton, Cynthia; Xing, Wanli; Cheng, Jing; Liu, Xue Zhong

    2017-01-01

    The unparalleled heterogeneity in genetic causes of hearing loss along with remarkable differences in prevalence of causative variants among ethnic groups makes single gene tests technically inefficient. Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss (NSHL), GJB2, GJB6, SLC26A4, and mitochondrial (mt) MT-RNR1 and MTTS are the major contributors. In order to provide a faster, more comprehensive and cost effective assay, we constructed a DNA fluidic array, CapitalBioMiamiOtoArray, for the detection of sequence variants in five genes that are common in most populations of European descent. They consist of c.35delG, p.W44C, p.L90P, c.167delT (GJB2); 309kb deletion (GJB6); p.L236P, p.T416P (SLC26A4); and m.1555A>G, m.7444G>A (mtDNA). We have validated our hearing loss array by analyzing a total of 160 DNAs samples. Our results show 100% concordance between the fluidic array biochip-based approach and the established Sanger sequencing method, thus proving its robustness and reliability at a relatively low cost.

  13. Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.

    Directory of Open Access Journals (Sweden)

    Denise Yan

    Full Text Available The unparalleled heterogeneity in genetic causes of hearing loss along with remarkable differences in prevalence of causative variants among ethnic groups makes single gene tests technically inefficient. Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss (NSHL, GJB2, GJB6, SLC26A4, and mitochondrial (mt MT-RNR1 and MTTS are the major contributors. In order to provide a faster, more comprehensive and cost effective assay, we constructed a DNA fluidic array, CapitalBioMiamiOtoArray, for the detection of sequence variants in five genes that are common in most populations of European descent. They consist of c.35delG, p.W44C, p.L90P, c.167delT (GJB2; 309kb deletion (GJB6; p.L236P, p.T416P (SLC26A4; and m.1555A>G, m.7444G>A (mtDNA. We have validated our hearing loss array by analyzing a total of 160 DNAs samples. Our results show 100% concordance between the fluidic array biochip-based approach and the established Sanger sequencing method, thus proving its robustness and reliability at a relatively low cost.

  14. MtDNA SNP multiplexes for efficient inference of matrilineal genetic ancestry within Oceania.

    Science.gov (United States)

    Ballantyne, Kaye N; van Oven, Mannis; Ralf, Arwin; Stoneking, Mark; Mitchell, R John; van Oorschot, Roland A H; Kayser, Manfred

    2012-07-01

    Human mitochondrial DNA (mtDNA) is a convenient marker for tracing matrilineal bio-geographic ancestry and is widely applied in forensic, genealogical and anthropological studies. In forensic applications, DNA-based ancestry inference can be useful for finding unknown suspects by concentrating police investigations in cases where autosomal STR profiling was unable to provide a match, or can help provide clues in missing person identification. Although multiplexed mtDNA single nucleotide polymorphism (SNP) assays to infer matrilineal ancestry at a (near) continental level are already available, such tools are lacking for the Oceania region. Here, we have developed a hierarchical system of three SNaPshot multiplexes for genotyping 26 SNPs defining all major mtDNA haplogroups for Oceania (including Australia, Near Oceania and Remote Oceania). With this system, it was possible to conclusively assign 74% of Oceanian individuals to their Oceanian matrilineal ancestry in an established literature database (after correcting for obvious external admixture). Furthermore, in a set of 161 genotyped individuals collected in Australia, Papua New Guinea and Fiji, 87.6% were conclusively assigned an Oceanian matrilineal origin. For the remaining 12.4% of the genotyped samples either a Eurasian origin was detected indicating likely European admixture (1.9%), the identified haplogroups are shared between Oceania and S/SE-Asia (5%), or the SNPs applied did not allow a geographic inference to be assigned (5.6%). Sub-regional assignment within Oceania was possible for 32.9% of the individuals genotyped: 49.5% of Australians were assigned an Australian origin and 13.7% of the Papua New Guineans were assigned a Near Oceanian origin, although none of the Fijians could be assigned a specific Remote Oceanian origin. The low assignment rates of Near and Remote Oceania are explained by recent migrations from Asia via Near Oceania into Remote Oceania. Combining the mtDNA multiplexes for

  15. Completion of a worldwide reference panel of samples for an ancestry informative Indel assay.

    Science.gov (United States)

    Santos, Carla; Phillips, Christopher; Oldoni, Fabio; Amigo, Jorge; Fondevila, Manuel; Pereira, Rui; Carracedo, Ángel; Lareu, Maria Victoria

    2015-07-01

    The use of ancestry informative markers (AIMs) in forensic analysis is of considerable utility since ancestry inference can progress an investigation when no identification has been made of DNA from the crime-scene. Short-amplicon markers, including insertion deletion polymorphisms, are particularly useful in forensic analysis due to their mutational stability, capacity to amplify degraded samples and straightforward amplification technique. In this study we report the completion of H952 HGDP-CEPH panel genotyping with a set of 46 AIM-Indels. The study adds Central South Asian and Middle Eastern population data, allowing a comparison of patterns of variation in Eurasia for these markers, in order to enhance their use in forensic analyses, particularly when combined with sets of ancestry informative SNPs. Ancestry analysis using principal component analysis and Bayesian methods indicates that a proportion of classification error occurs with European-Middle East population comparisons, but the 46 AIM-Indels have the capability to differentiate six major population groups when European-Central South Asian comparisons are made. These findings have relevance for forensic ancestry analyses in countries where South Asians form much of the demographic profile, including the UK, USA and South Africa. A novel third allele detected in MID-548 was characterized - despite a low frequency in the HGDP-CEPH panel samples, it appears confined to Central South Asian populations, increasing the ability to differentiate this population group. The H952 data set was implemented in a new open access SPSmart frequency browser - forInDel: Forensic Indel browser. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  16. African ancestry is associated with facial melasma in women: a cross-sectional study.

    Science.gov (United States)

    D'Elia, Maria Paula Barbieri; Brandão, Marcela Calixto; de Andrade Ramos, Bruna Ribeiro; da Silva, Márcia Guimarães; Miot, Luciane Donida Bartoli; Dos Santos, Sidney Emanuel Batista; Miot, Hélio Amante

    2017-02-17

    Melasma is a chronic acquired focal hypermelanosis affecting photoexposed areas, especially for women during fertile age. Several factors contribute to its development: sun exposure, sex steroids, medicines, and family history. Melanic pigmentation pathway discloses several SNPs in different populations. Here, we evaluated the association between genetic ancestry and facial melasma. A cross-sectional study involving women with melasma and an age-matched control group from outpatients at FMB-Unesp, Botucatu-SP, Brazil was performed. DNA was extracted from oral mucosa swabs and ancestry determined by studying 61 INDELs. The genetic ancestry components were adjusted by other known risk factors by multiple logistic regression. We evaluated 119 women with facial melasma and 119 controls. Mean age was 39 ± 9 years. Mean age at beginning of disease was 27 ± 8 years. Pregnancy (40%), sun exposure (37%), and hormonal oral contraception (22%) were the most frequently reported melasma triggers. All subjects presented admixed ancestry, African and European genetic contributions were significantly different between cases and controls (respectively 10% vs 6%; 77% vs 82%; p ancestry (OR = 1.04; 95% CI 1.01 to 1.07), first generation family history (OR = 3.04; 95% CI 1.56 to 5.94), low education level (OR = 4.04; 95% CI 1.56 to 5.94), and use of antidepressants by individuals with affected family members (OR = 6.15; 95% CI 1.13 to 33.37) were associated with melasma, independently of other known risk factors. Facial melasma was independently associated with African ancestry in a highly admixed population.

  17. Genetic Ancestry and Risk of Breast Cancer among US Latinas

    OpenAIRE

    Fejerman, Laura; John, Esther M.; Huntsman, Scott; Beckman, Kenny; Choudhry, Shweta; Perez-Stable, Eliseo; Burchard, Esteban González; Ziv, Elad

    2008-01-01

    US Latinas have a lower incidence of breast cancer compared to non-Latina White women. This difference is partially explained by differences in the prevalence of known risk factors. Genetic factors may also contribute to this difference in incidence. Latinas are an admixed population with most of their genetic ancestry from Europeans and Indigenous Americans. We used genetic markers to estimate the ancestry of Latina breast cancer cases and controls and assessed the association with genetic a...

  18. Contributions of the European trials (European randomized screening group) in computed tomography lung cancer screening.

    Science.gov (United States)

    Heuvelmans, Marjolein A; Vliegenthart, Rozemarijn; Oudkerk, Matthijs

    2015-03-01

    Lung cancer is the leading cause of cancer-related death worldwide. In 2011, the largest lung cancer screening trial worldwide, the US National Lung Screening Trial, published a 20% decrease in lung cancer-specific mortality in the computed tomography (CT)-screened group, compared with the group screened by chest x-ray. On the basis of this trial, different US guidelines recently have recommended CT lung cancer screening. However, several questions regarding the implementation of lung cancer screening need to be answered. In Europe, several lung cancer screening trials are ongoing. It is planned to pool the results of the lung cancer screening trials in European randomized lung cancer CT screening (EUCT). By pooling of the data, EUCT hopes to be able to provide additional information for the discussion of some important issues regarding the implementation of lung cancer screening by low-dose CT, including: the determination of the optimal screen population, the comparison between a volume-based and diameter-based nodule management protocol, and the determination of optimal screen intervals.

  19. Genomic Ancestry, Self-Rated Health and Its Association with Mortality in an Admixed Population: 10 Year Follow-Up of the Bambui-Epigen (Brazil Cohort Study of Ageing.

    Directory of Open Access Journals (Sweden)

    M Fernanda Lima-Costa

    Full Text Available Self-rated health (SRH has strong predictive value for mortality in different contexts and cultures, but there is inconsistent evidence on ethnoracial disparities in SRH in Latin America, possibly due to the complexity surrounding ethnoracial self-classification.We used 370,539 Single Nucleotide Polymorphisms (SNPs to examine the association between individual genomic proportions of African, European and Native American ancestry, and ethnoracial self-classification, with baseline and 10-year SRH trajectories in 1,311 community dwelling older Brazilians. We also examined whether genomic ancestry and ethnoracial self-classification affect the predictive value of SRH for subsequent mortality.European ancestry predominated among participants, followed by African and Native American (median = 84.0%, 9.6% and 5.3%, respectively; the prevalence of Non-White (Mixed and Black was 39.8%. Persons at higher levels of African and Native American genomic ancestry, and those self-identified as Non-White, were more likely to report poor health than other groups, even after controlling for socioeconomic conditions and an array of self-reported and objective physical health measures. Increased risks for mortality associated with worse SRH trajectories were strong and remarkably similar (hazard ratio ~3 across all genomic ancestry and ethno-racial groups.Our results demonstrated for the first time that higher levels of African and Native American genomic ancestry--and the inverse for European ancestry--were strongly correlated with worse SRH in a Latin American admixed population. Both genomic ancestry and ethnoracial self-classification did not modify the strong association between baseline SRH or SRH trajectory, and subsequent mortality.

  20. Reasons for attending support groups and organizational preferences: the European scleroderma support group members survey.

    Science.gov (United States)

    Gumuchian, Stephanie T; Delisle, Vanessa C; Kwakkenbos, Linda; Pépin, Mia; Carrier, Marie-Eve; Malcarne, Vanessa L; Peláez, Sandra; El-Baalbaki, Ghassan; Thombs, Brett D

    2017-12-19

    The objectives were to identify reasons why patients attend scleroderma support groups and to ascertain preferences for how meetings are best organized. The survey included 30-items on reasons for attending and nine items on organizational preferences. Patients were recruited through European patient organizations. Exploratory factor analysis was used to group reasons for attendance thematically. About 213 scleroderma patients (192 women) completed the survey. A three-factor model best described reasons for attending [χ2(348) = 586.1, p support, (2) learning about treatment and symptom management strategies, and (3) discussing other aspects of scleroderma. Among organizational preferences, respondents emphasized that meetings should include educational aspects and the opportunity to share information and support. People with scleroderma attend support groups to give and obtain social support and for education about managing their disease and other aspects of living with scleroderma. Support groups should be structured to facilitate both educational and informational aspects and to provide opportunities for sharing and support between members. Implications for rehabilitation Local peer-led support groups are an important support and informational resource for patients living with scleroderma. People with scleroderma attend support groups in order to: (1) obtain interpersonal and social support, (2) learn about disease treatment and symptom management strategies, and (3) discuss other aspects of living with scleroderma outside of symptom management. Most support group members prefer groups with a trained facilitator, that include family members or loved ones in the groups, that include between 11and 20 members, that last between 1 and 2 h, and that meet once every 1-3 months. Rehabilitation professionals can support the formation and management of local support groups or can refer patients to national scleroderma patient organizations for information on

  1. Mitochondrial and Y chromosome haplotype motifs as diagnostic markers of Jewish ancestry: a reconsideration.

    Directory of Open Access Journals (Sweden)

    Sergio eTofanelli

    2014-11-01

    Full Text Available Several authors have proposed haplotype motifs based on site variants at the mitochondrial genome (mtDNA and the non-recombining portion of the Y chromosome (NRY to trace the genealogies of Jewish people. Here, we analyzed their main approaches and test the feasibility of adopting motifs as ancestry markers through construction of a large database of mtDNA and NRY haplotypes from public genetic genealogical repositories. We verified the reliability of Jewish ancestry prediction based on the Cohen and Levite Modal Haplotypes in their classical 6 STR marker format or in the extended 12 STR format, as well as four founder mtDNA lineages (HVS-I segments accounting for about 40% of the current population of Ashkenazi Jews. For this purpose we compared haplotype composition in individuals of self-reported Jewish ancestry with the rest of European, African or Middle Eastern samples, to test for non-random association of ethno-geographic groups and haplotypes. Overall, NRY and mtDNA based motifs, previously reported to differentiate between groups, were found to be more represented in Jewish compared to non-Jewish groups. However, this seems to stem from common ancestors of Jewish lineages being rather recent respect to ancestors of non-Jewish lineages with the same haplotype signatures. Moreover, the polyphyly of haplotypes which contain the proposed motifs and the misuse of constant mutation rates heavily affected previous attempts to correctly dating the origin of common ancestries. Accordingly, our results stress the limitations of using the above haplotype motifs as reliable Jewish ancestry predictors and show its inadequacy for forensic or genealogical purposes.

  2. Self-reported ethnicity and genetic ancestry in relation to oral cancer and pre-cancer in Puerto Rico.

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    Esther Erdei

    Full Text Available Hispanics are known to be an extremely diverse and genetically admixed ethnic group. The lack of methodologies to control for ethnicity and the unknown admixture in complex study populations of Hispanics has left a gap in understanding certain cancer disparity issues. Incidence rates for oral and pharyngeal cancer (OPC in Puerto Rico are among the highest in the Western Hemisphere. We conducted an epidemiological study to examine risk and protective factors, in addition to possible genetic susceptibility components, for oral cancer and precancer in Puerto Rico.We recruited 310 Puerto Rico residents who had been diagnosed with either an incident oral squamous cell carcinoma, oral precancer, or benign oral condition. Participants completed an in-person interview and contributed buccal cells for DNA extraction. ABI Biosystem Taqman™ primer sets were used for genotyping 12 ancestry informative markers (AIMs. Ancestral group estimates were generated using maximum likelihood estimation software (LEADMIX, and additional principal component analysis was carried out to detect population substructures. We used unconditional logistic regression to assess the contribution of ancestry to the risk of being diagnosed with either an oral cancer or precancer while controlling for other potential confounders. The maximum likelihood estimates showed that study participants had a group average ancestry contribution of 69.9% European, 24.5% African, and 5.7% detectable Native American. The African and Indigenous American group estimates were significantly higher than anticipated. Neither self-identified ethnicity nor ancestry markers showed any significant associations with oral cancer/precancer risk in our study.The application of ancestry informative markers (AIMs, specifically designed for Hispanics, suggests no hidden population substructure is present based on our sampling and provides a viable approach for the evaluation and control of ancestry in future

  3. Self-reported ethnicity and genetic ancestry in relation to oral cancer and pre-cancer in Puerto Rico.

    Science.gov (United States)

    Erdei, Esther; Sheng, Huiping; Maestas, Erika; Mackey, Amanda; White, Kirsten A; Li, Lin; Dong, Yan; Taylor, Justin; Berwick, Marianne; Morse, Douglas E

    2011-01-01

    Hispanics are known to be an extremely diverse and genetically admixed ethnic group. The lack of methodologies to control for ethnicity and the unknown admixture in complex study populations of Hispanics has left a gap in understanding certain cancer disparity issues. Incidence rates for oral and pharyngeal cancer (OPC) in Puerto Rico are among the highest in the Western Hemisphere. We conducted an epidemiological study to examine risk and protective factors, in addition to possible genetic susceptibility components, for oral cancer and precancer in Puerto Rico. We recruited 310 Puerto Rico residents who had been diagnosed with either an incident oral squamous cell carcinoma, oral precancer, or benign oral condition. Participants completed an in-person interview and contributed buccal cells for DNA extraction. ABI Biosystem Taqman™ primer sets were used for genotyping 12 ancestry informative markers (AIMs). Ancestral group estimates were generated using maximum likelihood estimation software (LEADMIX), and additional principal component analysis was carried out to detect population substructures. We used unconditional logistic regression to assess the contribution of ancestry to the risk of being diagnosed with either an oral cancer or precancer while controlling for other potential confounders. The maximum likelihood estimates showed that study participants had a group average ancestry contribution of 69.9% European, 24.5% African, and 5.7% detectable Native American. The African and Indigenous American group estimates were significantly higher than anticipated. Neither self-identified ethnicity nor ancestry markers showed any significant associations with oral cancer/precancer risk in our study. The application of ancestry informative markers (AIMs), specifically designed for Hispanics, suggests no hidden population substructure is present based on our sampling and provides a viable approach for the evaluation and control of ancestry in future studies involving

  4. Genomics assisted ancestry deconvolution in grape.

    Directory of Open Access Journals (Sweden)

    Jason Sawler

    Full Text Available The genus Vitis (the grapevine is a group of highly diverse, diploid woody perennial vines consisting of approximately 60 species from across the northern hemisphere. It is the world's most valuable horticultural crop with ~8 million hectares planted, most of which is processed into wine. To gain insights into the use of wild Vitis species during the past century of interspecific grape breeding and to provide a foundation for marker-assisted breeding programmes, we present a principal components analysis (PCA based ancestry estimation method to calculate admixture proportions of hybrid grapes in the United States Department of Agriculture grape germplasm collection using genome-wide polymorphism data. We find that grape breeders have backcrossed to both the domesticated V. vinifera and wild Vitis species and that reasonably accurate genome-wide ancestry estimation can be performed on interspecific Vitis hybrids using a panel of fewer than 50 ancestry informative markers (AIMs. We compare measures of ancestry informativeness used in selecting SNP panels for two-way admixture estimation, and verify the accuracy of our method on simulated populations of admixed offspring. Our method of ancestry deconvolution provides a first step towards selection at the seed or seedling stage for desirable admixture profiles, which will facilitate marker-assisted breeding that aims to introgress traits from wild Vitis species while retaining the desirable characteristics of elite V. vinifera cultivars.

  5. Association of genetic ancestry with breast cancer in ethnically diverse women from Chicago.

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    Umaima Al-Alem

    Full Text Available Non-Hispanic (nH Black and Hispanic women are disproportionately affected by early onset disease, later stage, and with more aggressive, higher grade and ER/PR negative breast cancers. The purpose of this analysis was to examine whether genetic ancestry could account for these variation in breast cancer characteristics, once data were stratified by self-reported race/ethnicity and adjusted for potential confounding by social and behavioral factors.We used a panel of 100 ancestry informative markers (AIMs to estimate individual genetic ancestry in 656 women from the "Breast Cancer Care in Chicago" study, a multi-ethnic cohort of breast cancer patients to examine the association between individual genetic ancestry and breast cancer characteristics. In addition we examined the association of individual AIMs and breast cancer to identify genes/regions that may potentially play a role in breast cancer disease disparities.As expected, nH Black and Hispanic patients were more likely than nH White patients to be diagnosed at later stages, with higher grade, and with ER/PR negative tumors. Higher European genetic ancestry was protective against later stage at diagnosis (OR 0.7 95%CI: 0.54-0.92 among Hispanic patients, and higher grade (OR 0.73, 95%CI: 0.56-0.95 among nH Black patients. After adjustment for multiple social and behavioral risk factors, the association with later stage remained, while the association with grade was not significant. We also found that the AIM SNP rs10954631 on chromosome 7 was associated with later stage (p = 0.02 and higher grade (p = 0.012 in nH Whites and later stage (p = 0.03 in nH Blacks.Non-European genetic ancestry was associated with later stage at diagnosis in ethnic minorities. The relation between genetic ancestry and stage at diagnosis may be due to genetic factors and/or unmeasured environmental factors that are overrepresented within certain racial/ethnic groups.

  6. Association of genetic ancestry with breast cancer in ethnically diverse women from Chicago.

    Science.gov (United States)

    Al-Alem, Umaima; Rauscher, Garth; Shah, Ebony; Batai, Ken; Mahmoud, Abeer; Beisner, Erin; Silva, Abigail; Peterson, Caryn; Kittles, Rick

    2014-01-01

    Non-Hispanic (nH) Black and Hispanic women are disproportionately affected by early onset disease, later stage, and with more aggressive, higher grade and ER/PR negative breast cancers. The purpose of this analysis was to examine whether genetic ancestry could account for these variation in breast cancer characteristics, once data were stratified by self-reported race/ethnicity and adjusted for potential confounding by social and behavioral factors. We used a panel of 100 ancestry informative markers (AIMs) to estimate individual genetic ancestry in 656 women from the "Breast Cancer Care in Chicago" study, a multi-ethnic cohort of breast cancer patients to examine the association between individual genetic ancestry and breast cancer characteristics. In addition we examined the association of individual AIMs and breast cancer to identify genes/regions that may potentially play a role in breast cancer disease disparities. As expected, nH Black and Hispanic patients were more likely than nH White patients to be diagnosed at later stages, with higher grade, and with ER/PR negative tumors. Higher European genetic ancestry was protective against later stage at diagnosis (OR 0.7 95%CI: 0.54-0.92) among Hispanic patients, and higher grade (OR 0.73, 95%CI: 0.56-0.95) among nH Black patients. After adjustment for multiple social and behavioral risk factors, the association with later stage remained, while the association with grade was not significant. We also found that the AIM SNP rs10954631 on chromosome 7 was associated with later stage (p = 0.02) and higher grade (p = 0.012) in nH Whites and later stage (p = 0.03) in nH Blacks. Non-European genetic ancestry was associated with later stage at diagnosis in ethnic minorities. The relation between genetic ancestry and stage at diagnosis may be due to genetic factors and/or unmeasured environmental factors that are overrepresented within certain racial/ethnic groups.

  7. Benthic habitat mapping on the Basque continental shelf (SE Bay of Biscay) and its application to the European Marine Strategy Framework Directive

    Science.gov (United States)

    Galparsoro, Ibon; Rodríguez, José Germán; Menchaca, Iratxe; Quincoces, Iñaki; Garmendia, Joxe Mikel; Borja, Ángel

    2015-06-01

    Benthic habitats on the Basque continental shelf were mapped based on multibeam echosounder surveys, grab sampling, video surveys and oceanographic monitoring. A total area of 2302 km2 was classified according to the European Nature Information System (EUNIS) hierarchical classification. Almost 50% of the area corresponded to rock and other hard substrata and the other 50% corresponded to soft bottoms. The biotic composition of several areas was significantly different from the EUNIS habitat classes described previously; therefore, we propose a total of 13 new classes. The habitat mapping has contributed to improving the knowledge and application of several criteria and indicators used to assess environmental status in the European Marine Strategy Framework Directive in relation to the biological diversity descriptors, such as non-indigenous species and seafloor integrity. It is also useful for other descriptors and for developing the sampling design.

  8. The Relationship between Native American Ancestry, Body Mass Index and Diabetes Risk among Mexican-Americans.

    Science.gov (United States)

    Hu, Hao; Huff, Chad D; Yamamura, Yuko; Wu, Xifeng; Strom, Sara S

    2015-01-01

    Higher body mass index (BMI) is a well-established risk factor for type 2 diabetes, and rates of obesity and type 2 diabetes are substantially higher among Mexican-Americans relative to non-Hispanic European Americans. Mexican-Americans are genetically diverse, with a highly variable distribution of Native American, European, and African ancestries. Here, we evaluate the role of Native American ancestry on BMI and diabetes risk in a well-defined Mexican-American population. Participants were randomly selected among individuals residing in the Houston area who are enrolled in the Mexican-American Cohort study. Using a custom Illumina GoldenGate Panel, we genotyped DNA from 4,662 cohort participants for 87 Ancestry-Informative Markers. On average, the participants were of 50.2% Native American ancestry, 42.7% European ancestry and 7.1% African ancestry. Using multivariate linear regression, we found BMI and Native American ancestry were inversely correlated; individuals with ancestry were 2.5 times more likely to be severely obese compared to those with >80% Native American ancestry. Furthermore, we demonstrated an interaction between BMI and Native American ancestry in diabetes risk among women; Native American ancestry was a strong risk factor for diabetes only among overweight and obese women (OR = 1.190 for each 10% increase in Native American ancestry). This study offers new insight into the complex relationship between obesity, genetic ancestry, and their respective effects on diabetes risk. Findings from this study may improve the diabetes risk prediction among Mexican-American individuals thereby facilitating targeted prevention strategies.

  9. Epidemiology, biology, and treatment of triple-negative breast cancer in women of African ancestry

    OpenAIRE

    Brewster, Abenaa M; Chavez-MacGregor, Mariana; Brown, Powel

    2014-01-01

    Breast cancer incidence is increasing worldwide, and breast cancer-related mortality is highest in women of African ancestry, who are more likely to have basal-like or triple-negative breast cancer (TNBC) than are women of European ancestry. Identification of cultural, epidemiological, and genetic risk factors that predispose women of African ancestry to TNBC is an active area of research. Despite the aggressive behaviour of TNBC, achievement of a pathological complete response with chemother...

  10. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

    Science.gov (United States)

    Mahajan, Anubha; Go, Min Jin; Zhang, Weihua; Below, Jennifer E; Gaulton, Kyle J; Ferreira, Teresa; Horikoshi, Momoko; Johnson, Andrew D; Ng, Maggie C Y; Prokopenko, Inga; Saleheen, Danish; Wang, Xu; Zeggini, Eleftheria; Abecasis, Goncalo R; Adair, Linda S; Almgren, Peter; Atalay, Mustafa; Aung, Tin; Baldassarre, Damiano; Balkau, Beverley; Bao, Yuqian; Barnett, Anthony H; Barroso, Ines; Basit, Abdul; Been, Latonya F; Beilby, John; Bell, Graeme I; Benediktsson, Rafn; Bergman, Richard N; Boehm, Bernhard O; Boerwinkle, Eric; Bonnycastle, Lori L; Burtt, Noël; Cai, Qiuyin; Campbell, Harry; Carey, Jason; Cauchi, Stephane; Caulfield, Mark; Chan, Juliana C N; Chang, Li-Ching; Chang, Tien-Jyun; Chang, Yi-Cheng; Charpentier, Guillaume; Chen, Chien-Hsiun; Chen, Han; Chen, Yuan-Tsong; Chia, Kee-Seng; Chidambaram, Manickam; Chines, Peter S; Cho, Nam H; Cho, Young Min; Chuang, Lee-Ming; Collins, Francis S; Cornelis, Marylin C; Couper, David J; Crenshaw, Andrew T; van Dam, Rob M; Danesh, John; Das, Debashish; de Faire, Ulf; Dedoussis, George; Deloukas, Panos; Dimas, Antigone S; Dina, Christian; Doney, Alex S; Donnelly, Peter J; Dorkhan, Mozhgan; van Duijn, Cornelia; Dupuis, Josée; Edkins, Sarah; Elliott, Paul; Emilsson, Valur; Erbel, Raimund; Eriksson, Johan G; Escobedo, Jorge; Esko, Tonu; Eury, Elodie; Florez, Jose C; Fontanillas, Pierre; Forouhi, Nita G; Forsen, Tom; Fox, Caroline; Fraser, Ross M; Frayling, Timothy M; Froguel, Philippe; Frossard, Philippe; Gao, Yutang; Gertow, Karl; Gieger, Christian; Gigante, Bruna; Grallert, Harald; Grant, George B; Grrop, Leif C; Groves, Chrisropher J; Grundberg, Elin; Guiducci, Candace; Hamsten, Anders; Han, Bok-Ghee; Hara, Kazuo; Hassanali, Neelam; Hattersley, Andrew T; Hayward, Caroline; Hedman, Asa K; Herder, Christian; Hofman, Albert; Holmen, Oddgeir L; Hovingh, Kees; Hreidarsson, Astradur B; Hu, Cheng; Hu, Frank B; Hui, Jennie; Humphries, Steve E; Hunt, Sarah E; Hunter, David J; Hveem, Kristian; Hydrie, Zafar I; Ikegami, Hiroshi; Illig, Thomas; Ingelsson, Erik; Islam, Muhammed; Isomaa, Bo; Jackson, Anne U; Jafar, Tazeen; James, Alan; Jia, Weiping; Jöckel, Karl-Heinz; Jonsson, Anna; Jowett, Jeremy B M; Kadowaki, Takashi; Kang, Hyun Min; Kanoni, Stavroula; Kao, Wen Hong L; Kathiresan, Sekar; Kato, Norihiro; Katulanda, Prasad; Keinanen-Kiukaanniemi, Kirkka M; Kelly, Ann M; Khan, Hassan; Khaw, Kay-Tee; Khor, Chiea-Chuen; Kim, Hyung-Lae; Kim, Sangsoo; Kim, Young Jin; Kinnunen, Leena; Klopp, Norman; Kong, Augustine; Korpi-Hyövälti, Eeva; Kowlessur, Sudhir; Kraft, Peter; Kravic, Jasmina; Kristensen, Malene M; Krithika, S; Kumar, Ashish; Kumate, Jesus; Kuusisto, Johanna; Kwak, Soo Heon; Laakso, Markku; Lagou, Vasiliki; Lakka, Timo A; Langenberg, Claudia; Langford, Cordelia; Lawrence, Robert; Leander, Karin; Lee, Jen-Mai; Lee, Nanette R; Li, Man; Li, Xinzhong; Li, Yun; Liang, Junbin; Liju, Samuel; Lim, Wei-Yen; Lind, Lars; Lindgren, Cecilia M; Lindholm, Eero; Liu, Ching-Ti; Liu, Jian Jun; Lobbens, Stéphane; Long, Jirong; Loos, Ruth J F; Lu, Wei; Luan, Jian'an; Lyssenko, Valeriya; Ma, Ronald C W; Maeda, Shiro; Mägi, Reedik; Männisto, Satu; Matthews, David R; Meigs, James B; Melander, Olle; Metspalu, Andres; Meyer, Julia; Mirza, Ghazala; Mihailov, Evelin; Moebus, Susanne; Mohan, Viswanathan; Mohlke, Karen L; Morris, Andrew D; Mühleisen, Thomas W; Müller-Nurasyid, Martina; Musk, Bill; Nakamura, Jiro; Nakashima, Eitaro; Navarro, Pau; Ng, Peng-Keat; Nica, Alexandra C; Nilsson, Peter M; Njølstad, Inger; Nöthen, Markus M; Ohnaka, Keizo; Ong, Twee Hee; Owen, Katharine R; Palmer, Colin N A; Pankow, James S; Park, Kyong Soo; Parkin, Melissa; Pechlivanis, Sonali; Pedersen, Nancy L; Peltonen, Leena; Perry, John R B; Peters, Annette; Pinidiyapathirage, Janini M; Platou, Carl G; Potter, Simon; Price, Jackie F; Qi, Lu; Radha, Venkatesan; Rallidis, Loukianos; Rasheed, Asif; Rathman, Wolfgang; Rauramaa, Rainer; Raychaudhuri, Soumya; Rayner, N William; Rees, Simon D; Rehnberg, Emil; Ripatti, Samuli; Robertson, Neil; Roden, Michael; Rossin, Elizabeth J; Rudan, Igor; Rybin, Denis; Saaristo, Timo E; Salomaa, Veikko; Saltevo, Juha; Samuel, Maria; Sanghera, Dharambir K; Saramies, Jouko; Scott, James; Scott, Laura J; Scott, Robert A; Segrè, Ayellet V; Sehmi, Joban; Sennblad, Bengt; Shah, Nabi; Shah, Sonia; Shera, A Samad; Shu, Xiao Ou; Shuldiner, Alan R; Sigurđsson, Gunnar; Sijbrands, Eric; Silveira, Angela; Sim, Xueling; Sivapalaratnam, Suthesh; Small, Kerrin S; So, Wing Yee; Stančáková, Alena; Stefansson, Kari; Steinbach, Gerald; Steinthorsdottir, Valgerdur; Stirrups, Kathleen; Strawbridge, Rona J; Stringham, Heather M; Sun, Qi; Suo, Chen; Syvänen, Ann-Christine; Takayanagi, Ryoichi; Takeuchi, Fumihiko; Tay, Wan Ting; Teslovich, Tanya M; Thorand, Barbara; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Tikkanen, Emmi; Trakalo, Joseph; Tremoli, Elena; Trip, Mieke D; Tsai, Fuu Jen; Tuomi, Tiinamaija; Tuomilehto, Jaakko; Uitterlinden, Andre G; Valladares-Salgado, Adan; Vedantam, Sailaja; Veglia, Fabrizio; Voight, Benjamin F; Wang, Congrong; Wareham, Nicholas J; Wennauer, Roman; Wickremasinghe, Ananda R; Wilsgaard, Tom; Wilson, James F; Wiltshire, Steven; Winckler, Wendy; Wong, Tien Yin; Wood, Andrew R; Wu, Jer-Yuarn; Wu, Ying; Yamamoto, Ken; Yamauchi, Toshimasa; Yang, Mingyu; Yengo, Loic; Yokota, Mitsuhiro; Young, Robin; Zabaneh, Delilah; Zhang, Fan; Zhang, Rong; Zheng, Wei; Zimmet, Paul Z; Altshuler, David; Bowden, Donald W; Cho, Yoon Shin; Cox, Nancy J; Cruz, Miguel; Hanis, Craig L; Kooner, Jaspal; Lee, Jong-Young; Seielstad, Mark; Teo, Yik Ying; Boehnke, Michael; Parra, Esteban J; Chambers, Jonh C; Tai, E Shyong; McCarthy, Mark I; Morris, Andrew P

    2014-03-01

    To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexican and Mexican American ancestry. We observed a significant excess in the directional consistency of T2D risk alleles across ancestry groups, even at SNPs demonstrating only weak evidence of association. By following up the strongest signals of association from the trans-ethnic meta-analysis in an additional 21,491 cases and 55,647 controls of European ancestry, we identified seven new T2D susceptibility loci. Furthermore, we observed considerable improvements in the fine-mapping resolution of common variant association signals at several T2D susceptibility loci. These observations highlight the benefits of trans-ethnic GWAS for the discovery and characterization of complex trait loci and emphasize an exciting opportunity to extend insight into the genetic architecture and pathogenesis of human diseases across populations of diverse ancestry.

  11. Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.

    Science.gov (United States)

    John, Sumi Elsa; Thareja, Gaurav; Hebbar, Prashantha; Behbehani, Kazem; Thanaraj, Thangavel Alphonse; Alsmadi, Osama

    2015-03-01

    Kuwaiti native population comprises three distinct genetic subgroups of Persian, "city-dwelling" Saudi Arabian tribe, and nomadic "tent-dwelling" Bedouin ancestry. Bedouin subgroup is characterized by presence of 17% African ancestry; it owes it origin to nomadic tribes of the deserts of Arabian Peninsula and North Africa. By sequencing whole genome of a Kuwaiti male from this subgroup at 41X coverage, we report 3,752,878 SNPs, 411,839 indels, and 8451 structural variations. Neighbor-joining tree, based on shared variant positions carrying disease-risk alleles between the Bedouin and other continental genomes, places Bedouin genome at the nexus of African, Asian, and European genomes in concordance with geographical location of Kuwait and Peninsula. In congruence with participant's medical history for morbid obesity and bronchial asthma, risk alleles are seen at deleterious SNPs associated with obesity and asthma. Many of the observed deleterious 'novel' variants lie in genes associated with autosomal recessive disorders characteristic of the region.

  12. The Organization of European Cancer Institute Pathobiology Working Group and its support of European biobanking infrastructures for translational cancer research.

    Science.gov (United States)

    Riegman, Peter H J; de Jong, Bas W D; Llombart-Bosch, Antonio

    2010-04-01

    Today's translational cancer research increasingly depends on international multi-center studies. Biobanking infrastructure or comprehensive sample exchange platforms to enable networking of clinical cancer biobanks are instrumental to facilitate communication, uniform sample quality, and rules for exchange. The Organization of European Cancer Institutes (OECI) Pathobiology Working Group supports European biobanking infrastructure by maintaining the OECI-TuBaFrost exchange platform and organizing regular meetings. This platform originated from a European Commission project and is updated with knowledge from ongoing and new biobanking projects. This overview describes how European biobanking projects that have a large impact on clinical biobanking, including EuroBoNeT, SPIDIA, and BBMRI, contribute to the update of the OECI-TuBaFrost exchange platform. Combining the results of these European projects enabled the creation of an open (upon valid registration only) catalogue view of cancer biobanks and their available samples to initiate research projects. In addition, closed environments supporting active projects could be developed together with the latest views on quality, access rules, ethics, and law. With these contributions, the OECI Pathobiology Working Group contributes to and stimulates a professional attitude within biobanks at the European comprehensive cancer centers. Improving the fundamentals of cancer sample exchange in Europe stimulates the performance of large multi-center studies, resulting in experiments with the desired statistical significance outcome. With this approach, future innovation in cancer patient care can be realized faster and more reliably.

  13. Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.

    Science.gov (United States)

    Jiang, Xia; O'Reilly, Paul F; Aschard, Hugues; Hsu, Yi-Hsiang; Richards, J Brent; Dupuis, Josée; Ingelsson, Erik; Karasik, David; Pilz, Stefan; Berry, Diane; Kestenbaum, Bryan; Zheng, Jusheng; Luan, Jianan; Sofianopoulou, Eleni; Streeten, Elizabeth A; Albanes, Demetrius; Lutsey, Pamela L; Yao, Lu; Tang, Weihong; Econs, Michael J; Wallaschofski, Henri; Völzke, Henry; Zhou, Ang; Power, Chris; McCarthy, Mark I; Michos, Erin D; Boerwinkle, Eric; Weinstein, Stephanie J; Freedman, Neal D; Huang, Wen-Yi; Van Schoor, Natasja M; van der Velde, Nathalie; Groot, Lisette C P G M de; Enneman, Anke; Cupples, L Adrienne; Booth, Sarah L; Vasan, Ramachandran S; Liu, Ching-Ti; Zhou, Yanhua; Ripatti, Samuli; Ohlsson, Claes; Vandenput, Liesbeth; Lorentzon, Mattias; Eriksson, Johan G; Shea, M Kyla; Houston, Denise K; Kritchevsky, Stephen B; Liu, Yongmei; Lohman, Kurt K; Ferrucci, Luigi; Peacock, Munro; Gieger, Christian; Beekman, Marian; Slagboom, Eline; Deelen, Joris; Heemst, Diana van; Kleber, Marcus E; März, Winfried; de Boer, Ian H; Wood, Alexis C; Rotter, Jerome I; Rich, Stephen S; Robinson-Cohen, Cassianne; den Heijer, Martin; Jarvelin, Marjo-Riitta; Cavadino, Alana; Joshi, Peter K; Wilson, James F; Hayward, Caroline; Lind, Lars; Michaëlsson, Karl; Trompet, Stella; Zillikens, M Carola; Uitterlinden, Andre G; Rivadeneira, Fernando; Broer, Linda; Zgaga, Lina; Campbell, Harry; Theodoratou, Evropi; Farrington, Susan M; Timofeeva, Maria; Dunlop, Malcolm G; Valdes, Ana M; Tikkanen, Emmi; Lehtimäki, Terho; Lyytikäinen, Leo-Pekka; Kähönen, Mika; Raitakari, Olli T; Mikkilä, Vera; Ikram, M Arfan; Sattar, Naveed; Jukema, J Wouter; Wareham, Nicholas J; Langenberg, Claudia; Forouhi, Nita G; Gundersen, Thomas E; Khaw, Kay-Tee; Butterworth, Adam S; Danesh, John; Spector, Timothy; Wang, Thomas J; Hyppönen, Elina; Kraft, Peter; Kiel, Douglas P

    2018-01-17

    Vitamin D is a steroid hormone precursor that is associated with a range of human traits and diseases. Previous GWAS of serum 25-hydroxyvitamin D concentrations have identified four genome-wide significant loci (GC, NADSYN1/DHCR7, CYP2R1, CYP24A1). In this study, we expand the previous SUNLIGHT Consortium GWAS discovery sample size from 16,125 to 79,366 (all European descent). This larger GWAS yields two additional loci harboring genome-wide significant variants (P = 4.7×10-9 at rs8018720 in SEC23A, and P = 1.9×10-14 at rs10745742 in AMDHD1). The overall estimate of heritability of 25-hydroxyvitamin D serum concentrations attributable to GWAS common SNPs is 7.5%, with statistically significant loci explaining 38% of this total. Further investigation identifies signal enrichment in immune and hematopoietic tissues, and clustering with autoimmune diseases in cell-type-specific analysis. Larger studies are required to identify additional common SNPs, and to explore the role of rare or structural variants and gene-gene interactions in the heritability of circulating 25-hydroxyvitamin D levels.

  14. Association of the OPRM1 variant rs1799971 (A118G) with non-specific liability to substance dependence in a collaborative de novo meta-analysis of European-ancestry cohorts

    Science.gov (United States)

    Schwantes-An, Tae-Hwi; Zhang, Juan; Chen, Li-Shiun; Hartz, Sarah M.; Culverhouse, Robert C.; Chen, Xiangning; Coon, Hilary; Frank, Josef; Kamens, Helen M.; Konte, Bettina; Kovanen, Leena; Latvala, Antti; Legrand, Lisa N.; Maher, Brion S.; Melroy, Whitney E.; Nelson, Elliot C.; Reid, Mark W.; Robinson, Jason D.; Shen, Pei-Hong; Yang, Bao-Zhu; Andrews, Judy A.; Aveyard, Paul; Beltcheva, Olga; Brown, Sandra A.; Cannon, Dale S.; Cichon, Sven; Corley, Robin P.; Dahmen, Norbert; Degenhardt, Louisa; Foroud, Tatiana; Gaebel, Wolfgang; Giegling, Ina; Glatt, Stephen J.; Grucza, Richard A.; Hardin, Jill; Hartmann, Annette M.; Heath, Andrew C.; Herms, Stefan; Hodgkinson, Colin A.; Hoffmann, Per; Hops, Hyman; Huizinga, David; Ising, Marcus; Johnson, Eric O.; Johnstone, Elaine; Kaneva, Radka P.; Kendler, Kenneth S.; Kiefer, Falk; Kranzler, Henry R.; Krauter, Ken S.; Levran, Orna; Lucae, Susanne; Lynskey, Michael T.; Maier, Wolfgang; Mann, Karl; Martin, Nicholas G.; Mattheisen, Manuel; Montgomery, Grant W.; Müller-Myhsok, Bertram; Murphy, Michael F.; Neale, Michael C.; Nikolov, Momchil A.; Nishita, Denise; Nöthen, Markus M; Nurnberger, John; Partonen, Timo; Pergadia, Michele L.; Reynolds, Maureen; Ridinger, Monika; Rose, Richard J.; Rouvinen-Lagerström, Noora; Scherbaum, Norbert; Schmäl, Christine; Soyka, Michael; Stallings, Michael C.; Steffens, Michael; Treutlein, Jens; Tsuang, Ming; Wall, Tamara L.; Wodarz, Norbert; Yuferov, Vadim; Zill, Peter; Bergen, Andrew W.; Chen, Jingchun; Cinciripini, Paul M.; Edenberg, Howard J; Ehringer, Marissa A.; Ferrell, Robert E.; Gelernter, Joel; Goldman, David; Hewitt, John K.; Hopfer, Christian J.; Iacono, William G.; Kaprio, Jaakko; Kreek, Mary Jeanne; Kremensky, Ivo M.; Madden, Pamela A.F.; McGue, Matt; Munafò, Marcus R.; Philibert, Robert A.; Rietschel, Marcella; Roy, Alec; Rujescu, Dan; Saarikoski, Sirkku T.; Swan, Gary E.; Todorov, Alexandre A.; Vanyukov, Michael M.; Weiss, Robert B.; Bierut, Laura J.; Saccone, Nancy L.

    2015-01-01

    The mu1 opioid receptor gene, OPRM1, has long been a high-priority candidate for human genetic studies of addiction. Because of its potential functional significance, the non-synonymous variant rs1799971 (A118G, Asn40Asp) in OPRM1 has been extensively studied, yet its role in addiction has remained unclear, with conflicting association findings. To resolve the question of what effect, if any, rs1799971 has on substance dependence risk, we conducted collaborative meta-analyses of 25 datasets with over 28,000 European-ancestry subjects. We investigated non-specific risk for “general” substance dependence, comparing cases dependent on any substance to controls who were non-dependent on all assessed substances. We also examined five specific substance dependence diagnoses: DSM-IV alcohol, opioid, cannabis, and cocaine dependence, and nicotine dependence defined by the proxy of heavy/light smoking (cigarettes-per-day > 20 versus ≤ 10). The G allele showed a modest protective effect on general substance dependence (OR = 0.90, 95% C.I. [0.83–0.97], p-value = 0.0095, N = 16,908). We observed similar effects for each individual substance, although these were not statistically significant, likely because of reduced sample sizes. We conclude that rs1799971 contributes to mechanisms of addiction liability that are shared across different addictive substances. This project highlights the benefits of examining addictive behaviors collectively and the power of collaborative data sharing and meta-analyses. PMID:26392368

  15. Causes and effects of a highly successful marine invasion: Case-study of the introduced Pacific oyster Crassostrea gigas in continental NW European estuaries

    Science.gov (United States)

    Troost, Karin

    2010-10-01

    Since the 1960's, the Pacific oyster Crassostrea gigas has been introduced for mariculture at several locations within NW Europe. The oyster established itself everywhere and expanded rapidly throughout the receiving ecosystems, forming extensive and dense reef structures. It became clear that the Pacific oyster induced major changes in NW European estuaries. This paper reviews the causes of the Pacific oyster's remarkably successful establishment and spread in The Netherlands and neighbouring countries, and includes a comprehensive review of consequences for the receiving communities. Ecosystem engineering by C. gigas and a relative lack of natural enemies in receiving ecosystems are identified as the most important characteristics facilitating the invader's successful establishment and expansion. The Pacific oyster's large filtration capacity and eco-engineering characteristics induced many changes in receiving ecosystems. Different estuaries are affected differently; in the Dutch Oosterschelde estuary expanding stocks saturate the carrying capacity whereas in the Wadden Sea no such problems exist. In general, the Pacific oyster seems to fit well within continental NW European estuarine ecosystems and there is no evidence that the invader outcompetes native bivalves. C. gigas induces changes in plankton composition, habitat heterogeneity and biodiversity, carrying capacity, food webs and parasite life cycles. The case of the Pacific oyster in NW European estuaries is only one example in an increasing series of biological invasions mediated by human activities. This case-study will contribute to further elucidating general mechanisms in marine invasions; invasions that sometimes appear a threat, but can also contribute to ecological complexity.

  16. The European standard series. European Environmental and Contact Dermatitis Research Group (EECDRG)

    DEFF Research Database (Denmark)

    Bruynzeel, D P; Andersen, Klaus Ejner; Camarasa, J G

    1995-01-01

    Changes to the European standard series which have taken place since the last officially recommended alterations in 1988, are explained. New to the series is the sesquiterpene lactone mix. The PPD black rubber mix and the quinoline mix have been replaced by single components; one of the p-hydroxy......-hydroxybenzoates has been left out of the paraben mix. Ethylenediamine dihydrochloride has been dropped from the series....

  17. Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

    Science.gov (United States)

    Banda, Yambazi; Kvale, Mark N.; Hoffmann, Thomas J.; Hesselson, Stephanie E.; Ranatunga, Dilrini; Tang, Hua; Sabatti, Chiara; Croen, Lisa A.; Dispensa, Brad P.; Henderson, Mary; Iribarren, Carlos; Jorgenson, Eric; Kushi, Lawrence H.; Ludwig, Dana; Olberg, Diane; Quesenberry, Charles P.; Rowell, Sarah; Sadler, Marianne; Sakoda, Lori C.; Sciortino, Stanley; Shen, Ling; Smethurst, David; Somkin, Carol P.; Van Den Eeden, Stephen K.; Walter, Lawrence; Whitmer, Rachel A.; Kwok, Pui-Yan; Schaefer, Catherine; Risch, Neil

    2015-01-01

    Using genome-wide genotypes, we characterized the genetic structure of 103,006 participants in the Kaiser Permanente Northern California multi-ethnic Genetic Epidemiology Research on Adult Health and Aging Cohort and analyzed the relationship to self-reported race/ethnicity. Participants endorsed any of 23 race/ethnicity/nationality categories, which were collapsed into seven major race/ethnicity groups. By self-report the cohort is 80.8% white and 19.2% minority; 93.8% endorsed a single race/ethnicity group, while 6.2% endorsed two or more. Principal component (PC) and admixture analyses were generally consistent with prior studies. Approximately 17% of subjects had genetic ancestry from more than one continent, and 12% were genetically admixed, considering only nonadjacent geographical origins. Self-reported whites were spread on a continuum along the first two PCs, indicating extensive mixing among European nationalities. Self-identified East Asian nationalities correlated with genetic clustering, consistent with extensive endogamy. Individuals of mixed East Asian–European genetic ancestry were easily identified; we also observed a modest amount of European genetic ancestry in individuals self-identified as Filipinos. Self-reported African Americans and Latinos showed extensive European and African genetic ancestry, and Native American genetic ancestry for the latter. Among 3741 genetically identified parent–child pairs, 93% were concordant for self-reported race/ethnicity; among 2018 genetically identified full-sib pairs, 96% were concordant; the lower rate for parent–child pairs was largely due to intermarriage. The parent–child pairs revealed a trend toward increasing exogamy over time; the presence in the cohort of individuals endorsing multiple race/ethnicity categories creates interesting challenges and future opportunities for genetic epidemiologic studies. PMID:26092716

  18. Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

    Science.gov (United States)

    Banda, Yambazi; Kvale, Mark N; Hoffmann, Thomas J; Hesselson, Stephanie E; Ranatunga, Dilrini; Tang, Hua; Sabatti, Chiara; Croen, Lisa A; Dispensa, Brad P; Henderson, Mary; Iribarren, Carlos; Jorgenson, Eric; Kushi, Lawrence H; Ludwig, Dana; Olberg, Diane; Quesenberry, Charles P; Rowell, Sarah; Sadler, Marianne; Sakoda, Lori C; Sciortino, Stanley; Shen, Ling; Smethurst, David; Somkin, Carol P; Van Den Eeden, Stephen K; Walter, Lawrence; Whitmer, Rachel A; Kwok, Pui-Yan; Schaefer, Catherine; Risch, Neil

    2015-08-01

    Using genome-wide genotypes, we characterized the genetic structure of 103,006 participants in the Kaiser Permanente Northern California multi-ethnic Genetic Epidemiology Research on Adult Health and Aging Cohort and analyzed the relationship to self-reported race/ethnicity. Participants endorsed any of 23 race/ethnicity/nationality categories, which were collapsed into seven major race/ethnicity groups. By self-report the cohort is 80.8% white and 19.2% minority; 93.8% endorsed a single race/ethnicity group, while 6.2% endorsed two or more. Principal component (PC) and admixture analyses were generally consistent with prior studies. Approximately 17% of subjects had genetic ancestry from more than one continent, and 12% were genetically admixed, considering only nonadjacent geographical origins. Self-reported whites were spread on a continuum along the first two PCs, indicating extensive mixing among European nationalities. Self-identified East Asian nationalities correlated with genetic clustering, consistent with extensive endogamy. Individuals of mixed East Asian-European genetic ancestry were easily identified; we also observed a modest amount of European genetic ancestry in individuals self-identified as Filipinos. Self-reported African Americans and Latinos showed extensive European and African genetic ancestry, and Native American genetic ancestry for the latter. Among 3741 genetically identified parent-child pairs, 93% were concordant for self-reported race/ethnicity; among 2018 genetically identified full-sib pairs, 96% were concordant; the lower rate for parent-child pairs was largely due to intermarriage. The parent-child pairs revealed a trend toward increasing exogamy over time; the presence in the cohort of individuals endorsing multiple race/ethnicity categories creates interesting challenges and future opportunities for genetic epidemiologic studies. Copyright © 2015 by the Genetics Society of America.

  19. Helicobacter pylori genotyping from American indigenous groups shows novel Amerindian vacA and cagA alleles and Asian, African and European admixture.

    Directory of Open Access Journals (Sweden)

    Margarita Camorlinga-Ponce

    Full Text Available It is valuable to extend genotyping studies of Helicobacter pylori to strains from indigenous communities across the world to better define adaption, evolution, and associated diseases. We aimed to genetically characterize both human individuals and their infecting H. pylori from indigenous communities of Mexico, and to compare them with those from other human groups. We studied individuals from three indigenous groups, Tarahumaras from the North, Huichols from the West and Nahuas from the center of Mexico. Volunteers were sampled at their community site, DNA was isolated from white blood cells and mtDNA, Y-chromosome, and STR alleles were studied. H. pylori was cultured from gastric juice, and DNA extracted for genotyping of virulence and housekeeping genes. We found Amerindian mtDNA haplogroups (A, B, C, and D, Y-chromosome DYS19T, and Amerindian STRs alleles frequent in the three groups, confirming Amerindian ancestry in these Mexican groups. Concerning H.pylori cagA phylogenetic analyses, although most isolates were of the Western type, a new Amerindian cluster neither Western nor Asian, was formed by some indigenous Mexican, Colombian, Peruvian and Venezuelan isolates. Similarly, vacA phylogenetic analyses showed the existence of a novel Amerindian type in isolates from Alaska, Mexico and Colombia. With hspA strains from Mexico and other American groups clustered within the three major groups, Asian, African or European. Genotyping of housekeeping genes confirmed that Mexican strains formed a novel Asian-related Amerindian group together with strains from remote Amazon Aborigines. This study shows that Mexican indigenous people with Amerindian markers are colonized with H. pylori showing admixture of Asian, European and African strains in genes known to interact with the gastric mucosa. We present evidence of novel Amerindian cagA and vacA alleles in indigenous groups of North and South America.

  20. Helicobacter pylori Genotyping from American Indigenous Groups Shows Novel Amerindian vacA and cagA Alleles and Asian, African and European Admixture

    Science.gov (United States)

    Camorlinga-Ponce, Margarita; Perez-Perez, Guillermo; Gonzalez-Valencia, Gerardo; Mendoza, Irma; Peñaloza-Espinosa, Rosenda; Ramos, Irma; Kersulyte, Dangeruta; Reyes-Leon, Adriana; Romo, Carolina; Granados, Julio; Muñoz, Leopoldo; Berg, Douglas E.; Torres, Javier

    2011-01-01

    It is valuable to extend genotyping studies of Helicobacter pylori to strains from indigenous communities across the world to better define adaption, evolution, and associated diseases. We aimed to genetically characterize both human individuals and their infecting H. pylori from indigenous communities of Mexico, and to compare them with those from other human groups. We studied individuals from three indigenous groups, Tarahumaras from the North, Huichols from the West and Nahuas from the center of Mexico. Volunteers were sampled at their community site, DNA was isolated from white blood cells and mtDNA, Y-chromosome, and STR alleles were studied. H. pylori was cultured from gastric juice, and DNA extracted for genotyping of virulence and housekeeping genes. We found Amerindian mtDNA haplogroups (A, B, C, and D), Y-chromosome DYS19T, and Amerindian STRs alleles frequent in the three groups, confirming Amerindian ancestry in these Mexican groups. Concerning H.pylori cagA phylogenetic analyses, although most isolates were of the Western type, a new Amerindian cluster neither Western nor Asian, was formed by some indigenous Mexican, Colombian, Peruvian and Venezuelan isolates. Similarly, vacA phylogenetic analyses showed the existence of a novel Amerindian type in isolates from Alaska, Mexico and Colombia. With hspA strains from Mexico and other American groups clustered within the three major groups, Asian, African or European. Genotyping of housekeeping genes confirmed that Mexican strains formed a novel Asian-related Amerindian group together with strains from remote Amazon Aborigines. This study shows that Mexican indigenous people with Amerindian markers are colonized with H. pylori showing admixture of Asian, European and African strains in genes known to interact with the gastric mucosa. We present evidence of novel Amerindian cagA and vacA alleles in indigenous groups of North and South America. PMID:22073291

  1. Helicobacter pylori genotyping from American indigenous groups shows novel Amerindian vacA and cagA alleles and Asian, African and European admixture.

    Science.gov (United States)

    Camorlinga-Ponce, Margarita; Perez-Perez, Guillermo; Gonzalez-Valencia, Gerardo; Mendoza, Irma; Peñaloza-Espinosa, Rosenda; Ramos, Irma; Kersulyte, Dangeruta; Reyes-Leon, Adriana; Romo, Carolina; Granados, Julio; Muñoz, Leopoldo; Berg, Douglas E; Torres, Javier

    2011-01-01

    It is valuable to extend genotyping studies of Helicobacter pylori to strains from indigenous communities across the world to better define adaption, evolution, and associated diseases. We aimed to genetically characterize both human individuals and their infecting H. pylori from indigenous communities of Mexico, and to compare them with those from other human groups. We studied individuals from three indigenous groups, Tarahumaras from the North, Huichols from the West and Nahuas from the center of Mexico. Volunteers were sampled at their community site, DNA was isolated from white blood cells and mtDNA, Y-chromosome, and STR alleles were studied. H. pylori was cultured from gastric juice, and DNA extracted for genotyping of virulence and housekeeping genes. We found Amerindian mtDNA haplogroups (A, B, C, and D), Y-chromosome DYS19T, and Amerindian STRs alleles frequent in the three groups, confirming Amerindian ancestry in these Mexican groups. Concerning H.pylori cagA phylogenetic analyses, although most isolates were of the Western type, a new Amerindian cluster neither Western nor Asian, was formed by some indigenous Mexican, Colombian, Peruvian and Venezuelan isolates. Similarly, vacA phylogenetic analyses showed the existence of a novel Amerindian type in isolates from Alaska, Mexico and Colombia. With hspA strains from Mexico and other American groups clustered within the three major groups, Asian, African or European. Genotyping of housekeeping genes confirmed that Mexican strains formed a novel Asian-related Amerindian group together with strains from remote Amazon Aborigines. This study shows that Mexican indigenous people with Amerindian markers are colonized with H. pylori showing admixture of Asian, European and African strains in genes known to interact with the gastric mucosa. We present evidence of novel Amerindian cagA and vacA alleles in indigenous groups of North and South America.

  2. Association between Copy Number Variation Losses and Alcohol Dependence across African American and European American Ethnic Groups

    Science.gov (United States)

    Ulloa, Alvaro Emilio; Chen, Jiayu; Vergara, Victor Manuel; Calhoun, Vince; Liu, Jingyu

    2014-01-01

    Background Copy number variations (CNVs) are structural genetic mutations consisting of segmental gains or losses in DNA sequence. Although CNVs contribute substantially to genomic variation, few genetic and imaging studies report association of CNVs with alcohol dependence (AD). Our purpose is to find evidence of this association across ethnic populations and genders. This work is the first AD-CNV study across ethnic groups and the first to include the African American population. Methods This study considers two CNV datasets, one for discovery (2,345 samples) and the other for validation (239 samples), both including subjects with AD and healthy controls of European and African ancestry. Our analysis assesses the association between AD and CNV losses across ethnic groups and gender by examining the effect of overall losses across the whole genome, collective losses within individual cytogenetic bands and specific losses in CNV regions. Results Results from the discovery dataset showed an association between CNV losses within 16q12.2 and AD diagnosis (p = 4.53x10−3). An overlapping CNV region from the validation dataset exhibited the same direction of effect with respect to AD (p = 0.051). This CNV region affects the genes CES1p1 and CES1, which are members of the carboxylesterase (CES) family. The enzyme encoded by CES1 is a major liver enzyme that typically catalyzes the decomposition of ester into alcohol and carboxylic acid and is involved in drug or xenobiotics, fatty acid and cholesterol metabolisms. In addition, the most significantly associated CNV region was located at 9p21.2 (p = 1.9×10−3) in our discovery dataset. Although not observed in the validation dataset, probably due to small sample size, this result might hold potential connection to AD given its connection with neuronal death. In contrast, we did not find any association between AD and the overall total losses or the collective losses within individual cytogenetic bands. Conclusions

  3. Assessing Patterns of Admixture and Ancestry in Canadian Honey Bees

    Science.gov (United States)

    Canada has a large beekeeping industry comprised of 8483 beekeepers managing 672094 23 colonies. Canadian honey bees, like all honey bees in the New World, originate from centuries of importation of predominately European honey bees, but their precise ancestry remains unknown. There have been no i...

  4. A Critical Assessment of a Eurosceptic Party Group on European Integration: A Case Study of the European Conservatives and Reformists Group

    Directory of Open Access Journals (Sweden)

    Akbaba Sertan

    2014-06-01

    Full Text Available The article explores Euroscepticism and the way it is utilized within the politics of Europe, analyzed upon evidence from a Eurosceptic Euro-party located in the European Parliament, namely the European Conservatives and Reformists Group (ECR. The aim of this article is to clarify that the selected party> disproves the argument of EU- criticism being an unfavourable condition, and, more importantly, its contribution to the political contestation in the EU. For such an assessment, a survey of the party> manifesto, party working documents, as well as the discourses of the Member of the European Parliament (MEPs will be analyzed, and the concept of Euroscepticism will be once again in the centre of this analysis. This argument is evaluated based on the transnational-level analysis of the aforementioned party, focusing primarily on three specific issues-the democratic deficit, the issue of sovereignty! and anti-immigration rhetoric.

  5. The Relationship between Native American Ancestry, Body Mass Index and Diabetes Risk among Mexican-Americans

    OpenAIRE

    Hu, Hao; Huff, Chad D.; Yamamura, Yuko; Wu, Xifeng; Strom, Sara S.

    2015-01-01

    Higher body mass index (BMI) is a well-established risk factor for type 2 diabetes, and rates of obesity and type 2 diabetes are substantially higher among Mexican-Americans relative to non-Hispanic European Americans. Mexican-Americans are genetically diverse, with a highly variable distribution of Native American, European, and African ancestries. Here, we evaluate the role of Native American ancestry on BMI and diabetes risk in a well-defined Mexican-American population. Participants were ...

  6. Platinum-group element contents of Karelian kimberlites: Implications for the PGE budget of the sub-continental lithospheric mantle

    Science.gov (United States)

    Maier, W. D.; O'Brien, H.; Peltonen, P.; Barnes, Sarah-Jane

    2017-11-01

    We present high-precision isotope dilution data for Os, Ir, Ru, Pt, Pd and Re in Group I and Group II kimberlites from the Karelian craton, as well as 2 samples of the Premier Group I kimberlite pipe from the Kaapvaal craton. The samples have, on average, 1.38 ppb Pt and 1.33 ppb Pd, with Pt/Pd around unity. These PGE levels are markedly lower, by as much as 80%, than those reported previously for kimberlites from South Africa, Brazil and India, but overlap with PGE results reported recently from Canadian kimberlites. Primitive-mantle-normalised chalcophile element patterns are relatively flat from Os to Pt, but Cu, Ni and, somewhat less so, Au are enriched relative to the PGE (e.g., Cu/Pd > 25.000). Pd/Ir ratios are 3,6 on average, lower than in most other mantle melts. The PGE systematics can be largely explained by two components, (i) harzburgite/lherzolite detritus of the SCLM with relatively high IPGE (Os-Ir-Ru)/PPGE (Rh-Pt-Pd) ratios, and (ii) a melt component that has high PPGE/IPGE ratios. By using the concentrations of iridium in the kimberlites as a proxy for the proportion of mantle detritus in the magma, we estimate that the analysed kimberlites contain 3-27% entrained and partially dissolved detritus from the sub-continental lithospheric mantle, consistent with previous estimates of kimberlites elsewhere (Tappe S. et al., 2016, Chem. Geol. 10.1016/j.chemgeo.2016.08.019).

  7. Contributions of the European trials (European randomized screening group) in computed tomography lung cancer screening

    NARCIS (Netherlands)

    Heuvelmans, Marjolein A; Vliegenthart, Rozemarijn; Oudkerk, Matthijs

    Lung cancer is the leading cause of cancer-related death worldwide. In 2011, the largest lung cancer screening trial worldwide, the US National Lung Screening Trial, published a 20% decrease in lung cancer-specific mortality in the computed tomography (CT)-screened group, compared with the group

  8. Legislative lobbying in context : towards a conceptual framework of interest group lobbying in the European Union

    NARCIS (Netherlands)

    Kluver, Heike; Braun, C.; Beyers, Jan

    2015-01-01

    We outline a conceptual framework that identifies and characterizes the contextual nature of interest group politics in the European Union (EU) to better understand variation in interest group mobilization, lobbying strategies and interest group influence. We focus on two sets of contextual factors

  9. Admixture in Latin America: geographic structure, phenotypic diversity and self-perception of ancestry based on 7,342 individuals.

    Science.gov (United States)

    Ruiz-Linares, Andrés; Adhikari, Kaustubh; Acuña-Alonzo, Victor; Quinto-Sanchez, Mirsha; Jaramillo, Claudia; Arias, William; Fuentes, Macarena; Pizarro, María; Everardo, Paola; de Avila, Francisco; Gómez-Valdés, Jorge; León-Mimila, Paola; Hunemeier, Tábita; Ramallo, Virginia; Silva de Cerqueira, Caio C; Burley, Mari-Wyn; Konca, Esra; de Oliveira, Marcelo Zagonel; Veronez, Mauricio Roberto; Rubio-Codina, Marta; Attanasio, Orazio; Gibbon, Sahra; Ray, Nicolas; Gallo, Carla; Poletti, Giovanni; Rosique, Javier; Schuler-Faccini, Lavinia; Salzano, Francisco M; Bortolini, Maria-Cátira; Canizales-Quinteros, Samuel; Rothhammer, Francisco; Bedoya, Gabriel; Balding, David; Gonzalez-José, Rolando

    2014-09-01

    The current genetic makeup of Latin America has been shaped by a history of extensive admixture between Africans, Europeans and Native Americans, a process taking place within the context of extensive geographic and social stratification. We estimated individual ancestry proportions in a sample of 7,342 subjects ascertained in five countries (Brazil, Chile, Colombia, México and Perú). These individuals were also characterized for a range of physical appearance traits and for self-perception of ancestry. The geographic distribution of admixture proportions in this sample reveals extensive population structure, illustrating the continuing impact of demographic history on the genetic diversity of Latin America. Significant ancestry effects were detected for most phenotypes studied. However, ancestry generally explains only a modest proportion of total phenotypic variation. Genetically estimated and self-perceived ancestry correlate significantly, but certain physical attributes have a strong impact on self-perception and bias self-perception of ancestry relative to genetically estimated ancestry.

  10. eodataservice.org: how to enable cross-continental interoperability of the European Space Agency and Australian Geoscience Landsat datacubes

    Science.gov (United States)

    Mantovani, Simone; Barboni, Damiano; Natali, Stefano; Evans, Ben; Steer, Adam; Hogan, Patrik; Baumann, Peter

    2017-04-01

    Globally, billions of dollars are invested annually in Earth observations that support public services, commercial activity, and scientific inquiry. The Common Data Framework [1] for Earth Observation data summarises the current standards for the international community to adopt a common approach so that this significant data can be readily accessible. Concurrently, the "Copernicus Cooperation Arrangement" between the European Commission and the Australian Government is just one in a number of recent agreements signed to facilitate Satellite Earth Observation data sharing among the users' communities. The typical approach implemented in these initiatives is the establishment of a regional data access hub managed by the regional entity to collect data at full scale or over the local region, improve access services and provide high-performance environment in which all the data can be analysed. Furthermore, a number of datacube-aware platforms and services have emerged that enable a new collaborative approach for analysing the vast quantities of satellite imagery and other Earth Observations, making it quicker and easier to explore a time series of image data. In this context, the H2020-funded EarthServer2 project brings together multiple organisations in Europe, Australia and United States to allow federated data holdings to be analysed using web-based access to petabytes of multidimensional geospatial datasets. The aim is to create and ensure that these large spatial data sources can be accessed based on OGC standards, namely Web Coverage Service (WCS) and Web Coverage Processing Service (WCPS) that provide efficient&timely retrieval of large volumes of geospatial data as well as on-the-fly processing. In this study, we provide an overview of the existing European Space Agency and Australian Geoscience Landsat datacubes, how the regional datacube structures differ, how interoperability is enabled through standards, and finally how the datacubes can be visualized on

  11. Explicit modeling of ancestry improves polygenic risk scores and BLUP prediction

    Science.gov (United States)

    Chen, Chia-Yen; Han, Jiali; Hunter, David J.; Kraft, Peter; Price, Alkes L.

    2016-01-01

    Polygenic prediction using genome-wide SNPs can provide high prediction accuracy for complex traits. Here, we investigate the question of how to account for genetic ancestry when conducting polygenic prediction. We show that the accuracy of polygenic prediction in structured populations may be partly due to genetic ancestry. However, we hypothesized that explicitly modeling ancestry could improve polygenic prediction accuracy. We analyzed three GWAS of hair color, tanning ability and basal cell carcinoma (BCC) in European Americans (sample size from 7,440 to 9,822) and considered two widely used polygenic prediction approaches: polygenic risk scores (PRS) and Best Linear Unbiased Prediction (BLUP). We compared polygenic prediction without correction for ancestry to polygenic prediction with ancestry as a separate component in the model. In 10-fold cross-validation using the PRS approach, the R2 for hair color increased by 66% (0.0456 to 0.0755; pancestry, which prevents ancestry effects from entering into each SNP effect and being over-weighted. Surprisingly, explicitly modeling ancestry produces a similar improvement when using the BLUP approach, which fits all SNPs simultaneously in a single variance component and causes ancestry to be underweighted. We validate our findings via simulations, which show that the differences in prediction accuracy will increase in magnitude as sample sizes increase. In summary, our results show that explicitly modeling ancestry can be important in both PRS and BLUP prediction. PMID:25995153

  12. Genomic ancestry and education level independently influence abdominal fat distributions in a Brazilian admixed population.

    Directory of Open Access Journals (Sweden)

    Giovanny Vinícius Araújo de França

    Full Text Available We aimed to identify the independent associations of genomic ancestry and education level with abdominal fat distributions in the 1982 Pelotas birth cohort study, Brazil. In 2,890 participants (1,409 men and 1,481 women, genomic ancestry was assessed using genotype data on 370,539 genome-wide variants to quantify ancestral proportions in each individual. Years of completed education was used to indicate socio-economic position. Visceral fat depth and subcutaneous abdominal fat thickness were measured by ultrasound at age 29-31y; these measures were adjusted for BMI to indicate abdominal fat distributions. Linear regression models were performed, separately by sex. Admixture was observed between European (median proportion 85.3, African (6.6, and Native American (6.3 ancestries, with a strong inverse correlation between the African and European ancestry scores (ρ = -0.93; p<0.001. Independent of education level, African ancestry was inversely associated with both visceral and subcutaneous abdominal fat distributions in men (both P = 0.001, and inversely associated with subcutaneous abdominal fat distribution in women (p = 0.009. Independent of genomic ancestry, higher education level was associated with lower visceral fat, but higher subcutaneous fat, in both men and women (all p<0.001. Our findings, from an admixed population, indicate that both genomic ancestry and education level were independently associated with abdominal fat distribution in adults. African ancestry appeared to lower abdominal fat distributions, particularly in men.

  13. Investigating relationships between ancestry, lifestyle behaviors and perceptions of heart disease and breast cancer among Canadian women with British and with South Asian ancestry.

    Science.gov (United States)

    Curtin, Kimberley D; Berry, Tanya R; Courneya, Kerry S; McGannon, Kerry R; Norris, Colleen M; Rodgers, Wendy M; Spence, John C

    2018-01-01

    Ethnic minority groups including Asians in Canada have different knowledge and perceptions of heart disease and breast cancer compared with the ethnic majority group. Examine relationships between perceptions of heart disease and breast cancer, and lifestyle behaviors for Canadian women with British and with South Asian ancestry. Women with South Asian ( n = 170) and with British ( n = 373) ancestry ( M age = 33.01, SD = 12.86) reported leisure time physical activity, intended fruit and vegetable consumption, disease perceptions (ability to reduce risk, control over getting the diseases, and influence of family history), and demographic information. Mann-Whitney tests and multiple hierarchical linear regressions were used to examine the relationships between lifestyle behaviors and disease perceptions, with ancestry explored as a possible moderator. Participants with South Asian ancestry believed they had greater ability to reduce their risk and have control over getting breast cancer than participants with British ancestry. Family history influences on getting either disease was perceived as higher for women with British ancestry. Age was positively related to all three perceptions in both diseases. Intended fruit and vegetable consumption was positively related to perceptions of ability to reduce risk and control of both diseases, but was stronger for women with South Asian ancestry regarding perceptions of breast cancer. Leisure time physical activity was positively related to perceptions of control over getting heart disease for women with British ancestry. Women's disease perceptions can vary by ancestry and lifestyle behaviors. Accurate representation of diseases is essential in promoting effective preventative behaviors.

  14. African American and European American Students' Peer Groups during Early Adolescence: Structure, Status, and Academic Achievement

    Science.gov (United States)

    Wilson, Travis; Karimpour, Ramin; Rodkin, Philip C.

    2011-01-01

    Focusing on a sample of 382 African American (206 female) and 264 European American (132 female) students in diverse fourth and fifth grade classrooms, this study investigated three questions concerning the connections between peer groups and academic achievement during early adolescence: (a) How is group structure (i.e., hierarchy and cohesion)…

  15. Relationship of pain and ancestry in African American women.

    Science.gov (United States)

    Robbins, J A; Qi, L; Garcia, L; Younger, J W; Seldin, M F

    2015-05-01

    African Americans are reported to be more sensitive to pain than European Americans. Pain sensitivity has been shown to be genetically linked in animal models and is likely to be in humans. Exactly, 11,239 self-identified African American post-menopausal women enrolled in the Women's Health Initiative had percentage African ancestry determined by ancestry informative markers, "Pain Construct" measurements and covariate information. They answered five questions about specific types and location of pain, such as joint, neck, low back, headache and urinary. They also answered two questions which were used to derive a "Pain Construct", a measure of general pain scored on a scale of 1-100. Associations were tested in linear regression models adjusting for age, self-reported medical conditions, neighbourhood socio-economic status, education and depression. In the unadjusted model of the five specific types of pain measures, greater pain perception was associated with a higher proportion of African ancestry. However, some of the specific types of pain measures were no longer associated with African ancestry after adjustment for other study covariates. The Pain Construct was statistically significantly associated with African ancestry in both the unadjusted [β = -0.132, 95% confidence interval (CI) = -099 to -0.164; r = -0.075, 95% CI -0.056 to -0.093] and the adjusted models (β = -0.069 95% CI = -0.04 to -0.10). Greater African ancestry was associated with higher levels of self-reported pain, although this accounted for only a minor fraction of the overall variation in the Pain Construct. © 2015 European Pain Federation - EFIC®

  16. Genetic ancestry, social classification, and racial inequalities in blood pressure in Southeastern Puerto Rico.

    Directory of Open Access Journals (Sweden)

    Clarence C Gravlee

    Full Text Available BACKGROUND: The role of race in human genetics and biomedical research is among the most contested issues in science. Much debate centers on the relative importance of genetic versus sociocultural factors in explaining racial inequalities in health. However, few studies integrate genetic and sociocultural data to test competing explanations directly. METHODOLOGY/PRINCIPAL FINDINGS: We draw on ethnographic, epidemiologic, and genetic data collected in Southeastern Puerto Rico to isolate two distinct variables for which race is often used as a proxy: genetic ancestry versus social classification. We show that color, an aspect of social classification based on the culturally defined meaning of race in Puerto Rico, better predicts blood pressure than does a genetic-based estimate of continental ancestry. We also find that incorporating sociocultural variables reveals a new and significant association between a candidate gene polymorphism for hypertension (alpha(2C adrenergic receptor deletion and blood pressure. CONCLUSIONS/SIGNIFICANCE: This study addresses the recognized need to measure both genetic and sociocultural factors in research on racial inequalities in health. Our preliminary results provide the most direct evidence to date that previously reported associations between genetic ancestry and health may be attributable to sociocultural factors related to race and racism, rather than to functional genetic differences between racially defined groups. Our results also imply that including sociocultural variables in future research may improve our ability to detect significant allele-phenotype associations. Thus, measuring sociocultural factors related to race may both empower future genetic association studies and help to clarify the biological consequences of social inequalities.

  17. Millennial climatic changes in US and European loess deposits: Links between continental, North Atlantic and Greenland records.

    Science.gov (United States)

    Rousseau, D.; Antoine, P.; Hatte, C.; Sima, A.

    2007-12-01

    Loess sequences are key deposits at mid-latitudes in N Hemisphere, where no other complete records of past climatic changes are available. US and European sequences are thus ideally located to contribute testing the impact of abrupt climatic changes, described from North Atlantic and Greenland, as modeled by Ganopolski and Rahmstorf (2001). We present a synthesis of our high-resolution investigations in both continents by focusing on MIS 3 and 2. We show that the dust sedimentation, which lead to the loess formation, did not happen regularly, but better followed the dust deposition in Greenland corresponding to strong variations in the atmospheric circulation. Indeed all studied sequences show the alternation of pure or laminated loess with paleosols corresponding to artic brown soils, tundra gleys or embryonic gleys. Thus using i) grain size studies, ii) OSL and AMS dates, iii) d13C and mollusk analyses, and iv) the stratigraphical schemes and ongoing modeling experiments, we show that N Hemisphere loess sequences recorded millennial climatic variations even though with differences from one side to the other of the North Atlantic: while the general climatic history is recorded, the magnitude of the eolian events indicates differences. For example the strong N Atlantic coolings events (HE), expressed in the grain size studies by coarser material in Europe, cannot be identified in the US Great Plains. On the contrary, DO events are recorded by paleosols corresponding to finer sedimentation or stops/reductions in the dust deposition as also observed in the Greenland ice-cores. We conclude that climate variability in Western Europe appears strongly correlated with that in the North Atlantic area, at timescales at least as fine as centuries, while partly in North America.

  18. Accuracy Rates of Ancestry Estimation by Forensic Anthropologists Using Identified Forensic Cases.

    Science.gov (United States)

    Thomas, Richard M; Parks, Connie L; Richard, Adam H

    2017-07-01

    A common task in forensic anthropology involves the estimation of the ancestry of a decedent by comparing their skeletal morphology and measurements to skeletons of individuals from known geographic groups. However, the accuracy rates of ancestry estimation methods in actual forensic casework have rarely been studied. This article uses 99 forensic cases with identified skeletal remains to develop accuracy rates for ancestry estimations conducted by forensic anthropologists. The overall rate of correct ancestry estimation from these cases is 90.9%, which is comparable to most research-derived rates and those reported by individual practitioners. Statistical tests showed no significant difference in accuracy rates depending on examiner education level or on the estimated or identified ancestry. More recent cases showed a significantly higher accuracy rate. The incorporation of metric analyses into the ancestry estimate in these cases led to a higher accuracy rate. © 2017 American Academy of Forensic Sciences.

  19. Segregation and housing of minority ethnic groups in Western European cities

    NARCIS (Netherlands)

    Musterd, S.; van Kempen, R.

    2009-01-01

    Segregation of minority ethnic groups is a returning issue in public and political debates in many parts of the world. This paper focuses on Western European cities and presents information on levels and dynamics of segregation. While acknowledging the measurement problems, we feel comfortable in

  20. Recognizing and managing a malignant hyperthermia crisis: guidelines from the European Malignant Hyperthermia Group

    DEFF Research Database (Denmark)

    Glahn, K P E; Ellis, F R; Halsall, P J

    2010-01-01

    , the cornerstone of successful MH treatment, is unavailable in large areas around the world thereby increasing the risk of MH fatalities in these areas. The European Malignant Hyperthermia Group collected and reviewed all guidelines available from the various MH centres in order to provide a consensus document...

  1. Conservative strategy in infantile fibrosarcoma is possible: The European paediatric Soft tissue sarcoma Study Group experience

    NARCIS (Netherlands)

    Orbach, Daniel; Brennan, Bernadette; de Paoli, Angela; Gallego, Soledad; Mudry, Peter; Francotte, Nadine; van Noesel, Max; Kelsey, Anna; Alaggio, Rita; Ranchère, Dominique; de Salvo, Gian Luca; Casanova, Michela; Bergeron, Christophe; Merks, Johannes H. M.; Jenney, Meriel; Stevens, Michael C. G.; Bisogno, Gianni; Ferrari, Andrea

    2016-01-01

    Infantile fibrosarcoma (IFS) is a very rare disease occurring in young infants characterised by a high local aggressiveness but overall with a favourable survival. To try to reduce the total burden of therapy, the European pediatric Soft tissue sarcoma Study Group has developed conservative

  2. Influenza vaccination coverage among high-risk groups in 11 European countries

    NARCIS (Netherlands)

    Loerbroks, A.; Stock, C.; Bosch, J.A.; Litaker, D.G.; Apfelbacher, C.J.

    BACKGROUND: National vaccination coverage rates for individuals at increased risk of influenza-related complications represent a useful public health indicator of preparedness. We compared European countries regarding (i) vaccination coverage among high-risk groups and (ii) the likelihood that

  3. Geographic Variation in Zygomaxillary Suture Morphology and its Use in Ancestry Estimation.

    Science.gov (United States)

    Maddux, Scott D; Sporleder, Alexandria N; Burns, Casey E

    2015-07-01

    Angled/curved zygomaxillary suture coding is widely employed in cranial assessments of ancestry. However, the efficacy of this method has not been extensively evaluated across diverse populations. In this study, zygomaxillary suture morphology was assessed on a total of 411 human crania from six populations (European, Native American, African, Asian, Arctic Circle, and Aboriginal Australian) using a novel 3D coordinate landmark method. Our results indicate a predominance of angled sutures among native peoples of the Arctic and North America (85-86%), a prevalence of curved sutures among Africans and Aboriginal Australians (77-81%), and essentially equal proportions of both configurations in Asians and Europeans (50-56%). Statistically, angled/curved coding generally discriminates poorly between groups, except when populations with antithetically high frequencies of the two configurations (e.g., African vs. Native American) are compared. Moreover, comparisons across previous studies reveal conflicting frequencies for many populations, further suggesting limited utility of this trait in ancestry estimation. © 2015 American Academy of Forensic Sciences.

  4. Investigation of acute flank pain: how do practices of U.K.and Irish urologists compare with those of transatlantic and continental European colleagues?

    Science.gov (United States)

    Otite, Ugo; Parkin, John; Waymont, Brian; Inglis, John A; Philp, Nigel H

    2005-10-01

    Noncontrast-enhanced spiral CT (NESCT) is more accurate and reliable than intravenous urography (IVU) in diagnosing the cause of acute flank pain. This study aimed to determine the impact of current literature on the choice of imaging modality used to investigate acute flank pain within the UK and the Republic of Ireland. A questionnaire regarding the preferred investigation for acute flank pain was sent to all consultant urologists registered as British Association of Urological Surgeons members. Of the 548 consultants from 210 institutions surveyed, 293 (54%) from 171 (81.4%) institutions returned their questionnaires. Intravenous urography is used in the majority of institutions (146; 85.4%) for investigating acute flank pain. Only 18 (10.5%) use NESCT, while 4.1% use ultrasonography. Among those using IVU as the investigation of choice, the main reason given was limited CT services (82.4%). Others included familiarity with IVU features (51.2%), limited availability of radiologists for out-of-hours reporting of CT (26%), more rapid procedure (20.8%), lower cost (20%), and lower radiation exposure (19.6%). Only 52.4% of consultants using IVU would prefer NESCT if both were equally available. Urography remains the commonest modality for the investigation of acute flank pain in the UK and Ireland primarily because of limited CT services and greater familiarity with the images. Given the opportunity, only half of consultant urologists would select NESCT in preference to IVU, suggesting that improving the availability of CT services alone may not lead to practice paralleling that of our transatlantic and continental European colleagues.

  5. Ancestry Analysis in the 11-M Madrid Bomb Attack Investigation

    OpenAIRE

    Phillips, Christopher; Prieto, Lourdes; Fondevila, Manuel; Salas, Antonio; G?mez-Tato, Antonio; ?lvarez-Dios, Jos?; Alonso, Antonio; Blanco-Verea, Alejandro; Bri?n, Mar?a; Montesino, Marta; Carracedo, ?ngel; Lareu, Mar?a Victoria

    2009-01-01

    The 11-M Madrid commuter train bombings of 2004 constituted the second biggest terrorist attack to occur in Europe after Lockerbie, while the subsequent investigation became the most complex and wide-ranging forensic case in Spain. Standard short tandem repeat (STR) profiling of 600 exhibits left certain key incriminatory samples unmatched to any of the apprehended suspects. A judicial order to perform analyses of unmatched samples to differentiate European and North African ancestry became a...

  6. Group differences in proneness to inflammation.

    Science.gov (United States)

    Pennington, Renee; Gatenbee, Chandler; Kennedy, Brett; Harpending, Henry; Cochran, Gregory

    2009-12-01

    All humans are primarily descendants from a diaspora out of Africa approximately 50,000 years ago although there are some indications of admixture with local populations of archaic humans outside Africa. The burden of infectious disease is greater in tropical Africa than elsewhere on earth in historic times, and it was less outside Africa, especially in the New World where passage through the Beringian filter kept many Old World parasites from entering the New World with humans. As a consequence we expect that the immune system, especially susceptibility to inflammation, will be "tuned up" in people with recent tropical African ancestry, intermediate in people of European and Asian ancestry, and perhaps "tuned down" in people of Native American ancestry. We suggest that evolved responses to different pathogen burdens among geographic groups may contribute to higher rates of inflammatory disease in modern people.

  7. Human ancestry correlates with language and reveals that race is not an objective genomic classifier.

    Science.gov (United States)

    Baker, Jennifer L; Rotimi, Charles N; Shriner, Daniel

    2017-05-08

    Genetic and archaeological studies have established a sub-Saharan African origin for anatomically modern humans with subsequent migrations out of Africa. Using the largest multi-locus data set known to date, we investigated genetic differentiation of early modern humans, human admixture and migration events, and relationships among ancestries and language groups. We compiled publicly available genome-wide genotype data on 5,966 individuals from 282 global samples, representing 30 primary language families. The best evidence supports 21 ancestries that delineate genetic structure of present-day human populations. Independent of self-identified ethno-linguistic labels, the vast majority (97.3%) of individuals have mixed ancestry, with evidence of multiple ancestries in 96.8% of samples and on all continents. The data indicate that continents, ethno-linguistic groups, races, ethnicities, and individuals all show substantial ancestral heterogeneity. We estimated correlation coefficients ranging from 0.522 to 0.962 between ancestries and language families or branches. Ancestry data support the grouping of Kwadi-Khoe, Kx'a, and Tuu languages, support the exclusion of Omotic languages from the Afroasiatic language family, and do not support the proposed Dené-Yeniseian language family as a genetically valid grouping. Ancestry data yield insight into a deeper past than linguistic data can, while linguistic data provide clarity to ancestry data.

  8. Genetic ancestry-smoking interactions and lung function in African Americans: a cohort study.

    Directory of Open Access Journals (Sweden)

    Melinda C Aldrich

    Full Text Available BACKGROUND: Smoking tobacco reduces lung function. African Americans have both lower lung function and decreased metabolism of tobacco smoke compared to European Americans. African ancestry is also associated with lower pulmonary function in African Americans. We aimed to determine whether African ancestry modifies the association between smoking and lung function and its rate of decline in African Americans. METHODOLOGY/PRINCIPAL FINDINGS: We evaluated a prospective ongoing cohort of 1,281 African Americans participating in the Health, Aging, and Body Composition (Health ABC Study initiated in 1997. We also examined an ongoing prospective cohort initiated in 1985 of 1,223 African Americans in the Coronary Artery Disease in Young Adults (CARDIA Study. Pulmonary function and tobacco smoking exposure were measured at baseline and repeatedly over the follow-up period. Individual genetic ancestry proportions were estimated using ancestry informative markers selected to distinguish European and West African ancestry. African Americans with a high proportion of African ancestry had lower baseline forced expiratory volume in one second (FEV₁ per pack-year of smoking (-5.7 ml FEV₁/ smoking pack-year compared with smokers with lower African ancestry (-4.6 ml in FEV₁/ smoking pack-year (interaction P value  = 0.17. Longitudinal analyses revealed a suggestive interaction between smoking, and African ancestry on the rate of FEV(1 decline in Health ABC and independently replicated in CARDIA. CONCLUSIONS/SIGNIFICANCE: African American individuals with a high proportion of African ancestry are at greater risk for losing lung function while smoking.

  9. Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.

    Directory of Open Access Journals (Sweden)

    Simon N Stacey

    2010-07-01

    Full Text Available We used an approach that we term ancestry-shift refinement mapping to investigate an association, originally discovered in a GWAS of a Chinese population, between rs2046210[T] and breast cancer susceptibility. The locus is on 6q25.1 in proximity to the C6orf97 and estrogen receptor alpha (ESR1 genes. We identified a panel of SNPs that are correlated with rs2046210 in Chinese, but not necessarily so in other ancestral populations, and genotyped them in breast cancer case:control samples of Asian, European, and African origin, a total of 10,176 cases and 13,286 controls. We found that rs2046210[T] does not confer substantial risk of breast cancer in Europeans and Africans (OR = 1.04, P = 0.099, and OR = 0.98, P = 0.77, respectively. Rather, in those ancestries, an association signal arises from a group of less common SNPs typified by rs9397435. The rs9397435[G] allele was found to confer risk of breast cancer in European (OR = 1.15, P = 1.2 x 10(-3, African (OR = 1.35, P = 0.014, and Asian (OR = 1.23, P = 2.9 x 10(-4 population samples. Combined over all ancestries, the OR was 1.19 (P = 3.9 x 10(-7, was without significant heterogeneity between ancestries (P(het = 0.36 and the SNP fully accounted for the association signal in each ancestry. Haplotypes bearing rs9397435[G] are well tagged by rs2046210[T] only in Asians. The rs9397435[G] allele showed associations with both estrogen receptor positive and estrogen receptor negative breast cancer. Using early-draft data from the 1,000 Genomes project, we found that the risk allele of a novel SNP (rs77275268, which is closely correlated with rs9397435, disrupts a partially methylated CpG sequence within a known CTCF binding site. These studies demonstrate that shifting the analysis among ancestral populations can provide valuable resolution in association mapping.

  10. Friends forever? The Role of the Visegrad Group and European Integration

    Directory of Open Access Journals (Sweden)

    Schmidt Andrea

    2016-12-01

    Full Text Available The Visegrad Group celebrated its 25th anniversary in February 2016. Established as an initiative of three statesmen from the Central and Eastern European (CEE region, this cooperation has experienced booms and crises. The aim of this paper is to analyse the function of this regional integration in the years following the end of bipolar system as Visegrad Group members headed down the road to Euro-Atlantic integration. To this end, I apply different theoretical approaches and attempt to explain the influence of key former politicians as well as new scenarios for the Visegrad Group’s position in the European Union. This analysis also covers the latest foreign policy changes and challenges facing CEE due to the involvement of a wider region that creates a counter-balance to the core EU. Statistical data and official documents from the Visegrad Group’s website strengthen these findings.

  11. Genomic Insights into the Ancestry and Demographic History of South America

    Science.gov (United States)

    Homburger, Julian R.; Moreno-Estrada, Andrés; Gignoux, Christopher R.; Nelson, Dominic; Sanchez, Elena; Ortiz-Tello, Patricia; Pons-Estel, Bernardo A.; Acevedo-Vasquez, Eduardo; Miranda, Pedro; Langefeld, Carl D.; Gravel, Simon; Alarcón-Riquelme, Marta E.; Bustamante, Carlos D.

    2015-01-01

    South America has a complex demographic history shaped by multiple migration and admixture events in pre- and post-colonial times. Settled over 14,000 years ago by Native Americans, South America has experienced migrations of European and African individuals, similar to other regions in the Americas. However, the timing and magnitude of these events resulted in markedly different patterns of admixture throughout Latin America. We use genome-wide SNP data for 437 admixed individuals from 5 countries (Colombia, Ecuador, Peru, Chile, and Argentina) to explore the population structure and demographic history of South American Latinos. We combined these data with population reference panels from Africa, Asia, Europe and the Americas to perform global ancestry analysis and infer the subcontinental origin of the European and Native American ancestry components of the admixed individuals. By applying ancestry-specific PCA analyses we find that most of the European ancestry in South American Latinos is from the Iberian Peninsula; however, many individuals trace their ancestry back to Italy, especially within Argentina. We find a strong gradient in the Native American ancestry component of South American Latinos associated with country of origin and the geography of local indigenous populations. For example, Native American genomic segments in Peruvians show greater affinities with Andean indigenous peoples like Quechua and Aymara, whereas Native American haplotypes from Colombians tend to cluster with Amazonian and coastal tribes from northern South America. Using ancestry tract length analysis we modeled post-colonial South American migration history as the youngest in Latin America during European colonization (9–14 generations ago), with an additional strong pulse of European migration occurring between 3 and 9 generations ago. These genetic footprints can impact our understanding of population-level differences in biomedical traits and, thus, inform future medical

  12. Genomic Insights into the Ancestry and Demographic History of South America.

    Directory of Open Access Journals (Sweden)

    Julian R Homburger

    2015-12-01

    Full Text Available South America has a complex demographic history shaped by multiple migration and admixture events in pre- and post-colonial times. Settled over 14,000 years ago by Native Americans, South America has experienced migrations of European and African individuals, similar to other regions in the Americas. However, the timing and magnitude of these events resulted in markedly different patterns of admixture throughout Latin America. We use genome-wide SNP data for 437 admixed individuals from 5 countries (Colombia, Ecuador, Peru, Chile, and Argentina to explore the population structure and demographic history of South American Latinos. We combined these data with population reference panels from Africa, Asia, Europe and the Americas to perform global ancestry analysis and infer the subcontinental origin of the European and Native American ancestry components of the admixed individuals. By applying ancestry-specific PCA analyses we find that most of the European ancestry in South American Latinos is from the Iberian Peninsula; however, many individuals trace their ancestry back to Italy, especially within Argentina. We find a strong gradient in the Native American ancestry component of South American Latinos associated with country of origin and the geography of local indigenous populations. For example, Native American genomic segments in Peruvians show greater affinities with Andean indigenous peoples like Quechua and Aymara, whereas Native American haplotypes from Colombians tend to cluster with Amazonian and coastal tribes from northern South America. Using ancestry tract length analysis we modeled post-colonial South American migration history as the youngest in Latin America during European colonization (9-14 generations ago, with an additional strong pulse of European migration occurring between 3 and 9 generations ago. These genetic footprints can impact our understanding of population-level differences in biomedical traits and, thus, inform

  13. Genomic Insights into the Ancestry and Demographic History of South America.

    Science.gov (United States)

    Homburger, Julian R; Moreno-Estrada, Andrés; Gignoux, Christopher R; Nelson, Dominic; Sanchez, Elena; Ortiz-Tello, Patricia; Pons-Estel, Bernardo A; Acevedo-Vasquez, Eduardo; Miranda, Pedro; Langefeld, Carl D; Gravel, Simon; Alarcón-Riquelme, Marta E; Bustamante, Carlos D

    2015-12-01

    South America has a complex demographic history shaped by multiple migration and admixture events in pre- and post-colonial times. Settled over 14,000 years ago by Native Americans, South America has experienced migrations of European and African individuals, similar to other regions in the Americas. However, the timing and magnitude of these events resulted in markedly different patterns of admixture throughout Latin America. We use genome-wide SNP data for 437 admixed individuals from 5 countries (Colombia, Ecuador, Peru, Chile, and Argentina) to explore the population structure and demographic history of South American Latinos. We combined these data with population reference panels from Africa, Asia, Europe and the Americas to perform global ancestry analysis and infer the subcontinental origin of the European and Native American ancestry components of the admixed individuals. By applying ancestry-specific PCA analyses we find that most of the European ancestry in South American Latinos is from the Iberian Peninsula; however, many individuals trace their ancestry back to Italy, especially within Argentina. We find a strong gradient in the Native American ancestry component of South American Latinos associated with country of origin and the geography of local indigenous populations. For example, Native American genomic segments in Peruvians show greater affinities with Andean indigenous peoples like Quechua and Aymara, whereas Native American haplotypes from Colombians tend to cluster with Amazonian and coastal tribes from northern South America. Using ancestry tract length analysis we modeled post-colonial South American migration history as the youngest in Latin America during European colonization (9-14 generations ago), with an additional strong pulse of European migration occurring between 3 and 9 generations ago. These genetic footprints can impact our understanding of population-level differences in biomedical traits and, thus, inform future medical

  14. Tuberculosis control in big cities and urban risk groups in the European Union: a consensus statement.

    Science.gov (United States)

    van Hest, N A; Aldridge, R W; de Vries, G; Sandgren, A; Hauer, B; Hayward, A; Arrazola de Oñate, W; Haas, W; Codecasa, L R; Caylà, J A; Story, A; Antoine, D; Gori, A; Quabeck, L; Jonsson, J; Wanlin, M; Orcau, Å; Rodes, A; Dedicoat, M; Antoun, F; van Deutekom, H; Keizer, St; Abubakar, I

    2014-03-06

    In low-incidence countries in the European Union (EU), tuberculosis (TB) is concentrated in big cities, especially among certain urban high-risk groups including immigrants from TB high-incidence countries, homeless people, and those with a history of drug and alcohol misuse. Elimination of TB in European big cities requires control measures focused on multiple layers of the urban population. The particular complexities of major EU metropolises, for example high population density and social structure, create specific opportunities for transmission, but also enable targeted TB control interventions, not efficient in the general population, to be effective or cost effective. Lessons can be learnt from across the EU and this consensus statement on TB control in big cities and urban risk groups was prepared by a working group representing various EU big cities, brought together on the initiative of the European Centre for Disease Prevention and Control. The consensus statement describes general and specific social, educational, operational, organisational, legal and monitoring TB control interventions in EU big cities, as well as providing recommendations for big city TB control, based upon a conceptual TB transmission and control model.

  15. Race, Ethnicity and Ancestry in Unrelated Transplant Matching for the National Marrow Donor Program: A Comparison of Multiple Forms of Self-Identification with Genetics

    Science.gov (United States)

    Hollenbach, Jill A.; Saperstein, Aliya; Albrecht, Mark; Vierra-Green, Cynthia; Parham, Peter; Norman, Paul J.; Maiers, Martin

    2015-01-01

    We conducted a nationwide study comparing self-identification to genetic ancestry classifications in a large cohort (n = 1752) from the National Marrow Donor Program. We sought to determine how various measures of self-identification intersect with genetic ancestry, with the aim of improving matching algorithms for unrelated bone marrow transplant. Multiple dimensions of self-identification, including race/ethnicity and geographic ancestry were compared to classifications based on ancestry informative markers (AIMs), and the human leukocyte antigen (HLA) genes, which are required for transplant matching. Nearly 20% of responses were inconsistent between reporting race/ethnicity versus geographic ancestry. Despite strong concordance between AIMs and HLA, no measure of self-identification shows complete correspondence with genetic ancestry. In certain cases geographic ancestry reporting matches genetic ancestry not reflected in race/ethnicity identification, but in other cases geographic ancestries show little correspondence to genetic measures, with important differences by gender. However, when respondents assign ancestry to grandparents, we observe sub-groups of individuals with well- defined genetic ancestries, including important differences in HLA frequencies, with implications for transplant matching. While we advocate for tailored questioning to improve accuracy of ancestry ascertainment, collection of donor grandparents’ information will improve the chances of finding matches for many patients, particularly for mixed-ancestry individuals. PMID:26287376

  16. The mechanism of influence of interest groups in the European Union: political and sociological analysis

    Directory of Open Access Journals (Sweden)

    P. S. Kanevsky

    2016-01-01

    Full Text Available Interaction between interest groups and political institutions is one of the cornerstones of the European Union policy making process. Although majority of Russian and foreign works dedicated to lobbying and decision making in the EU, concentrate on a governmental stadial system and normative procedures that regulate interest groups access to policy making centers. Such institutional approach doesn’t clarify why the EU has concrete policies, why not all interest groups are able to win, who sets the agenda and in whose interests decisions are made. Current article, using contemporary theories and research, analyzes process of interaction between interest groups and governmental structures in the EU. It also proposes explanations of wins and losses in the policy making process, trying to answer how interest groups interacts with each other and what patterns can be identified in the process of interest aggregation by governmental structures.

  17. Exploring the Y Chromosomal Ancestry of Modern Panamanians.

    Science.gov (United States)

    Grugni, Viola; Battaglia, Vincenza; Perego, Ugo Alessandro; Raveane, Alessandro; Lancioni, Hovirag; Olivieri, Anna; Ferretti, Luca; Woodward, Scott R; Pascale, Juan Miguel; Cooke, Richard; Myres, Natalie; Motta, Jorge; Torroni, Antonio; Achilli, Alessandro; Semino, Ornella

    2015-01-01

    Geologically, Panama belongs to the Central American land-bridge between North and South America crossed by Homo sapiens >14 ka ago. Archaeologically, it belongs to a wider Isthmo-Colombian Area. Today, seven indigenous ethnic groups account for 12.3% of Panama's population. Five speak Chibchan languages and are characterized by low genetic diversity and a high level of differentiation. In addition, no evidence of differential structuring between maternally and paternally inherited genes has been reported in isthmian Chibchan cultural groups. Recent data have shown that 83% of the Panamanian general population harbour mitochondrial DNAs (mtDNAs) of Native American ancestry. Considering differential male/female mortality at European contact and multiple degrees of geographical and genetic isolation over the subsequent five centuries, the Y-chromosome Native American component is expected to vary across different geographic regions and communities in Panama. To address this issue, we investigated Y-chromosome variation in 408 modern males from the nine provinces of Panama and one indigenous territory (the comarca of Kuna Yala). In contrast to mtDNA data, the Y-chromosome Native American component (haplogroup Q) exceeds 50% only in three populations facing the Caribbean Sea: the comarca of Kuna Yala and Bocas del Toro province where Chibchan languages are spoken by the majority, and the province of Colón where many Kuna and people of mixed indigenous-African-and-European descent live. Elsewhere the Old World component is dominant and mostly represented by western Eurasian haplogroups, which signal the strong male genetic impact of invaders. Sub-Saharan African input accounts for 5.9% of male haplotypes. This reflects the consequences of the colonial Atlantic slave trade and more recent influxes of West Indians of African heritage. Overall, our findings reveal a local evolution of the male Native American ancestral gene pool, and a strong but geographically

  18. Exploring the Y Chromosomal Ancestry of Modern Panamanians.

    Directory of Open Access Journals (Sweden)

    Viola Grugni

    Full Text Available Geologically, Panama belongs to the Central American land-bridge between North and South America crossed by Homo sapiens >14 ka ago. Archaeologically, it belongs to a wider Isthmo-Colombian Area. Today, seven indigenous ethnic groups account for 12.3% of Panama's population. Five speak Chibchan languages and are characterized by low genetic diversity and a high level of differentiation. In addition, no evidence of differential structuring between maternally and paternally inherited genes has been reported in isthmian Chibchan cultural groups. Recent data have shown that 83% of the Panamanian general population harbour mitochondrial DNAs (mtDNAs of Native American ancestry. Considering differential male/female mortality at European contact and multiple degrees of geographical and genetic isolation over the subsequent five centuries, the Y-chromosome Native American component is expected to vary across different geographic regions and communities in Panama. To address this issue, we investigated Y-chromosome variation in 408 modern males from the nine provinces of Panama and one indigenous territory (the comarca of Kuna Yala. In contrast to mtDNA data, the Y-chromosome Native American component (haplogroup Q exceeds 50% only in three populations facing the Caribbean Sea: the comarca of Kuna Yala and Bocas del Toro province where Chibchan languages are spoken by the majority, and the province of Colón where many Kuna and people of mixed indigenous-African-and-European descent live. Elsewhere the Old World component is dominant and mostly represented by western Eurasian haplogroups, which signal the strong male genetic impact of invaders. Sub-Saharan African input accounts for 5.9% of male haplotypes. This reflects the consequences of the colonial Atlantic slave trade and more recent influxes of West Indians of African heritage. Overall, our findings reveal a local evolution of the male Native American ancestral gene pool, and a strong but

  19. European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility

    DEFF Research Database (Denmark)

    Hopkins, P M; Rüffert, H; Snoeck, M M

    2015-01-01

    It is 30 yr since the British Journal of Anaesthesia published the first consensus protocol for the laboratory diagnosis of malignant hyperthermia susceptibility from the European Malignant Hyperthermia Group. This has subsequently been used in more than 10 000 individuals worldwide to inform use...... of anaesthetic drugs in these patients with increased risk of developing malignant hyperthermia during general anaesthesia, representing an early and successful example of stratified medicine. In 2001, our group also published a guideline for the use of DNA-based screening of malignant hyperthermia...

  20. Faunal diversity of Fagus sylvatica forests: A regional and European perspective based on three indicator groups

    Directory of Open Access Journals (Sweden)

    H. Walentowski

    2014-12-01

    Full Text Available While the postglacial history of European beech (Fagus sylvatica and the plant species composition of beech forests in  Central Europe are fairly well understood, the faunal biodiversity has been less well investigated. We studied three groups of  mostly sedentary organisms in beech forest at regional and European scales by combining field studies with a compilation of existing literature and expert knowledge. Specifically, we examined the relationship between host tree genera and saproxylic  beetles, and the diversity and composition of forest ground-dwelling molluscs and ground beetles in relation to the abundance  of beech. At a west central European scale (Germany, where beech has a “young” ecological and biogeographical history,  we found 48 primeval forest relict species of saproxylic beetles associated with beech, 124 ground beetles and 91 molluscs  inhabiting beech forest, yet none exclusive of west central European beech forests. High levels of faunal similarity between beech and other woodland trees suggested that many of the beech forest dwelling species are euryoecious and likely to  originate from mid-Holocene mixed broadleaf forests. Beech forests of the mountain ranges in southern and east central  Europe, which are ecologically and biogeographically “old”, were found to harbour distinct species assemblages, including  beech forest specialists (such as 10 carabid species in the Carpathians and narrow-range endemics of broadleaf forest. The  observed biodiversity patterns suggest differentiated conservation priorities in “young” and “old” European beech forest  regions.

  1. Genetic ancestry is associated with measures of subclinical atherosclerosis in African Americans: the Jackson Heart Study.

    Science.gov (United States)

    Gebreab, Samson Y; Riestra, Pia; Khan, Rumana J; Xu, Ruihua; Musani, Solomon K; Tekola-Ayele, Fasil; Correa, Adolfo; Wilson, James G; Rotimi, Charles N; Davis, Sharon K

    2015-05-01

    To determine whether genetic ancestry was associated with subclinical atherosclerosis measures after adjustment for traditional cardiovascular disease risk factors, inflammatory marker, socioeconomic status, and psychosocial factors in a large admixed African American population. Participants were drawn from the Jackson Heart Study. Participant's percent of European ancestry (PEA) was estimated based on 1747 genetic markers using HAPMIX. Association of PEA with peripheral arterial disease and common carotid intima-media thickness were investigated among 2168 participants and with coronary artery calcification >0 and abdominal aortic calcification >0 among 1139 participants. The associations were evaluated using multivariable regression models. Our results showed that a 1 SD increase in PEA was associated with a lower peripheral arterial disease prevalence after adjusting for age and sex (prevalence ratio=0.90 [95% CI, 0.82-0.99]; P=0.036). Adjustments for traditional cardiovascular disease risk factors, socioeconomic status, and psychosocial factors attenuated this association (prevalence ratio=0.91 [0.82-1.00]; P=0.046). There was also a nonlinear association between PEA and coronary artery calcification and abdominal aortic calcification. The lowest PEA was associated with a lower coronary artery calcification (prevalence ratio=0.75 [0.58-0.96]; P=0.022) and a lower abdominal aortic calcification [prevalence ratio=0.80 [0.67-0.96]; P=0.016) compared with the reference group (10th-90th percentile) after adjusting for traditional cardiovascular disease risk factors, inflammatory marker, socioeconomic status, and psychosocial factors. However, we found no significant association between PEA and common carotid intima-media thickness. Overall, our findings indicate that genetic ancestry was associated with subclinical atherosclerosis, suggesting unmeasured risk factors and interactions with genetic factors might contribute to the distribution of subclinical

  2. AKT: ancestry and kinship toolkit.

    Science.gov (United States)

    Arthur, Rudy; Schulz-Trieglaff, Ole; Cox, Anthony J; O'Connell, Jared

    2017-01-01

    Ancestry and Kinship Toolkit (AKT) is a statistical genetics tool for analysing large cohorts of whole-genome sequenced samples. It can rapidly detect related samples, characterize sample ancestry, calculate correlation between variants, check Mendel consistency and perform data clustering. AKT brings together the functionality of many state-of-the-art methods, with a focus on speed and a unified interface. We believe it will be an invaluable tool for the curation of large WGS datasets. The source code is available at https://illumina.github.io/akt CONTACTS: joconnell@illumina.com or rudy.d.arthur@gmail.comSupplementary information: Supplementary data are available at Bioinformatics online. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  3. An African ancestry-specific allele of CTLA4 confers protection against rheumatoid arthritis in African Americans.

    Directory of Open Access Journals (Sweden)

    James M Kelley

    2009-03-01

    Full Text Available Cytotoxic T-lymphocyte associated protein 4 (CTLA4 is a negative regulator of T-cell proliferation. Polymorphisms in CTLA4 have been inconsistently associated with susceptibility to rheumatoid arthritis (RA in populations of European ancestry but have not been examined in African Americans. The prevalence of RA in most populations of European and Asian ancestry is approximately 1.0%; RA is purportedly less common in black Africans, with little known about its prevalence in African Americans. We sought to determine if CTLA4 polymorphisms are associated with RA in African Americans. We performed a 2-stage analysis of 12 haplotype tagging single nucleotide polymorphisms (SNPs across CTLA4 in a total of 505 African American RA patients and 712 African American controls using Illumina and TaqMan platforms. The minor allele (G of the rs231778 SNP was 0.054 in RA patients, compared to 0.209 in controls (4.462 x 10(-26, Fisher's exact. The presence of the G allele was associated with a substantially reduced odds ratio (OR of having RA (AG+GG genotypes vs. AA genotype, OR 0.19, 95% CI: 0.13-0.26, p = 2.4 x 10(-28, Fisher's exact, suggesting a protective effect. This SNP is polymorphic in the African population (minor allele frequency [MAF] 0.09 in the Yoruba population, but is very rare in other groups (MAF = 0.002 in 530 Caucasians genotyped for this study. Markers associated with RA in populations of European ancestry (rs3087243 [+60C/T] and rs231775 [+49A/G] were not replicated in African Americans. We found no confounding of association for rs231778 after stratifying for the HLA-DRB1 shared epitope, presence of anti-cyclic citrullinated peptide antibody, or degree of admixture from the European population. An African ancestry-specific genetic variant of CTLA4 appears to be associated with protection from RA in African Americans. This finding may explain, in part, the relatively low prevalence of RA in black African populations.

  4. European consensus conference on diagnosis and treatment of germ cell cancer: a report of the second meeting of the European Germ Cell Cancer Consensus group (EGCCCG): part I.

    NARCIS (Netherlands)

    Krege, S.; Beyer, J.; Souchon, R.; Albers, P.; Albrecht, W.; Algaba, F.; Bamberg, M.; Bodrogi, I.; Bokemeyer, C.; Cavallin-Stahl, E.; Classen, J.; Clemm, C.; Cohn-Cedermark, G.; Culine, S.; Daugaard, G.; Mulder, P.H.M. de; Santis, M. de; Wit, M. de; Wit, R. de; Derigs, H.G.; Dieckmann, K.P.; Dieing, A.; Droz, J.P.; Fenner, M.; Fizazi, K.; Flechon, A.; Fossa, S.D.; Muro, X.G. del; Gauler, T.; Geczi, L.; Gerl, A.; Germa-Lluch, J.R.; Gillessen, S.; Hartmann, J.T.; Hartmann, M.; Heidenreich, A.; Hoeltl, W.; Horwich, A.; Huddart, R.; Jewett, M.; Joffe, J.; Jones, W.G.; Kisbenedek, L.; Klepp, O.; Kliesch, S.; Koehrmann, K.U.; Kollmannsberger, C.; Kuczyk, M.; Laguna, P.; Galvis, O.L.; Loy, V.; Mason, M.D.; Mead, G.M.; Mueller, R.; Nichols, C.; Nicolai, N.; Oliver, T.; Ondrus, D.; Oosterhof, G.O.; Ares, L.P.; Pizzocaro, G.; Pont, J.; Pottek, T.; Powles, T.; Rick, O.; Rosti, G.; Salvioni, R.; Scheiderbauer, J.; Schmelz, H.U.; Schmidberger, H.; Schmoll, H.J.; Schrader, M.; Sedlmayer, F.; Skakkebaek, N.E.; Sohaib, A.; Tjulandin, S.; Warde, P.; Weinknecht, S.; Weissbach, L.; Wittekind, C.; Winter, E.; Wood, L.; Maase, H. von der

    2008-01-01

    OBJECTIVES: The first consensus report presented by the European Germ Cell Cancer Consensus Group (EGCCCG) in the year 2004 has found widespread approval by many colleagues throughout the world. In November 2006, the group met a second time under the auspices of the Department of Urology of the

  5. European consensus conference on diagnosis and treatment of germ cell cancer: a report of the second meeting of the European Germ Cell Cancer Consensus Group (EGCCCG): part II.

    NARCIS (Netherlands)

    Krege, S.; Beyer, J.; Souchon, R.; Albers, P.; Albrecht, W.; Algaba, F.; Bamberg, M.; Bodrogi, I.; Bokemeyer, C.; Cavallin-Stahl, E.; Classen, J.; Clemm, C.; Cohn-Cedermark, G.; Culine, S.; Daugaard, G.; Mulder, P.H.M. de; Santis, M. De; Wit, M. de; Wit, R. de; Derigs, H.G.; Dieckmann, K.P.; Dieing, A.; Droz, J.P.; Fenner, M.; Fizazi, K.; Flechon, A.; Fossa, S.D.; Muro, X.G. del; Gauler, T.; Geczi, L.; Gerl, A.; Germa-Lluch, J.R.; Gillessen, S.; Hartmann, J.T.; Hartmann, M.; Heidenreich, A.; Hoeltl, W.; Horwich, A.; Huddart, R.; Jewett, M.; Joffe, J.; Jones, W.G.; Kisbenedek, L.; Klepp, O.; Kliesch, S.; Koehrmann, K.U.; Kollmannsberger, C.; Kuczyk, M.; Laguna, P.; Galvis, O.L.; Loy, V.; Mason, M.D.; Mead, G.M.; Mueller, R.; Nichols, C.; Nicolai, N.; Oliver, T.; Ondrus, D.; Oosterhof, G.O.; Paz-Ares, L.; Pizzocaro, G.; Pont, J.; Pottek, T.; Powles, T.; Rick, O.; Rosti, G.; Salvioni, R.; Scheiderbauer, J.; Schmelz, H.U.; Schmidberger, H.; Schmoll, H.J.; Schrader, M.; Sedlmayer, F.; Skakkebaek, N.E.; Sohaib, A.; Tjulandin, S.; Warde, P.; Weinknecht, S.; Weissbach, L.; Wittekind, C.; Winter, E.; Wood, L.; Maase, H. von der

    2008-01-01

    OBJECTIVES: The first consensus report that had been presented by the European Germ Cell Cancer Consensus Group (EGCCCG) in 2004 has found widespread approval by many colleagues throughout the world. In November 2006, the group met a second time under the auspices of the Department of Urology of the

  6. FACTORS IN STRENGHTNING OF TERRORIST ACTIVITY OF “ISLAMIC STATE” GROUPING ACROSS EUROPEAN UNION

    Directory of Open Access Journals (Sweden)

    Nikita Aleksandrovich Lobanov

    2017-03-01

    Full Text Available XXI century was marked by the strengthening of globalization and integration processes in whole world. This led to the fact that the international community, especially European countries, faced the number of new threats to the spread of Islamic terrorism, the most urgent of which is the activity of “Islamic State” grouping. In this context it’s important to determine the reasons of intense activity growth of IS and its influence in Europe. The article analyzes the factors, contributing to the spread of terrorism. Also it gives some recommendations, implementation of which, according to the author, could decrease the level of terrorist threat. The purpose of the research is to determine factors of growing influence of “Islamic State” and increasing number of terrorist attacks in European countries. The author concludes that IS problem is a comprehensive threat, to prevent which a number of efforts – both within the European continent and in Middle East – is required. It also requires a systematic approach and a high level of consolidation and coordination within the international community.

  7. Phylogeography reveals an ancient cryptic radiation in East-Asian tree frogs (Hyla japonica group) and complex relationships between continental and island lineages.

    Science.gov (United States)

    Dufresnes, Christophe; Litvinchuk, Spartak N; Borzée, Amaël; Jang, Yikweon; Li, Jia-Tang; Miura, Ikuo; Perrin, Nicolas; Stöck, Matthias

    2016-11-23

    -like diversification of H. japonica around the Sea of Japan. Our findings urge for important taxonomic revisions in East-Asian tree frogs. First, they support the synonymy of H. suweonensis (Kuramoto, 1980) and H. immaculata (Boettger, 1888). Second, the nominal H. japonica (Günther, 1859) represents at least two species: an eastern (new taxon A) on the northern Japanese and Russian Far East islands, and a southwestern species (n. t. B) on southern Japanese islands and possibly also forming continental populations. Third, these continental tree frogs may also represent an additional entity, previously described as H. stepheni Boulenger, 1888 (senior synonym of H. ussuriensis Nikolskii, 1918). A complete revision of this group requires further taxonomic and nomenclatural analyses, especially since it remains unclear to which taxon the species-epitheton japonica corresponds to.

  8. Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.

    Science.gov (United States)

    Fernandes, Gabriela C; Michelli, Rodrigo A D; Galvão, Henrique C R; Paula, André E; Pereira, Rui; Andrade, Carlos E; Felicio, Paula S; Souza, Cristiano P; Mendes, Deise R P; Volc, Sahlua; Berardinelli, Gustavo N; Grasel, Rebeca S; Sabato, Cristina S; Viana, Danilo V; Mauad, Edmundo C; Scapulatempo-Neto, Cristovam; Arun, Banu; Reis, Rui M; Palmero, Edenir I

    2016-12-06

    There are very few data about the mutational profile of families at-risk for hereditary breast and ovarian cancer (HBOC) from Latin America (LA) and especially from Brazil, the largest and most populated country in LA. Of the 349 probands analyzed, 21.5% were BRCA1/BRCA2 mutated, 65.3% at BRCA1 and 34.7% at BRCA2 gene. The mutation c.5266dupC (former 5382insC) was the most frequent alteration, representing 36.7% of the BRCA1 mutations and 24.0% of all mutations identified. Together with the BRCA1 c.3331_3334delCAAG mutation, these mutations constitutes about 35% of the identified mutations and more than 50% of the BRCA1 pathogenic mutations. Interestingly, six new mutations were identified. Additionally, 39 out of the 44 pathogenic mutations identified were not previously reported in the Brazilian population. Besides, 36 different variants of unknown significance (VUS) were identified. Regarding ancestry, average ancestry proportions were 70.6% European, 14.5% African, 8.0% Native American and 6.8% East Asian. This study characterized 349 Brazilian families at-risk for HBOC regarding their germline BRCA1/BRCA2 status and genetic ancestry. This is the largest report of BRCA1/BRCA2 assessment in an at-risk HBOC Brazilian population. We identified 21.5% of patients harboring BRCA1/BRCA2 mutations and characterized the genetic ancestry of a sample group at-risk for hereditary breast cancer showing once again how admixed is the Brazilian population. No association was found between genetic ancestry and mutational status. The knowledge of the mutational profile in a population can contribute to the definition of more cost-effective strategies for the identification of HBOC families.

  9. European Communities Confederation of Clinical Chemistry Working Group on Accreditation: past, present and future.

    Science.gov (United States)

    Huisman, W

    2001-07-20

    During the past 10 years, many activities have taken place in the field of quality systems and accreditation in medical laboratories. Each country in Europe has a slightly different approach. The Working Group on Accreditation of the European Communities Confederation of Clinical Chemistry (EC4) tries to support harmonisation of these efforts. For this purpose, they edited the Essential Criteria for quality systems of medical laboratories and supported the forthcoming International ISO standard "Quality management for the medical laboratory". At this moment, a Model Quality Manual is nearly ready for publication. The next items are setting up criteria for auditing the quality system and criteria for the accreditation process.

  10. Influence of genomic ancestry on the distribution of SLCO1B1, SLCO1B3 and ABCB1 gene polymorphisms among Brazilians.

    Science.gov (United States)

    Sortica, Vinicius de A; Ojopi, Elida B; Genro, Júlia P; Callegari-Jacques, Sidia; Ribeiro-Dos-Santos, Andrea; de Moraes, Manoel Odorico; Romano-Silva, Marco A; Pena, Sérgio D J; Suarez-Kurtz, Guilherme; Hutz, Mara H

    2012-05-01

    The frequency distribution of SNPs and haplotypes in the ABCB1, SLCO1B1 and SLCO1B3 genes varies largely among continental populations. This variation can lead to biases in pharmacogenetic studies conducted in admixed populations such as those from Brazil and other Latin American countries. The aim of this study was to evaluate the influence of self-reported colour, geographical origin and genomic ancestry on distributions of the ABCB1, SLCO1B1 and SLCO1B3 polymorphisms and derived haplotypes in admixed Brazilian populations. A total of 1039 healthy adults from the north, north-east, south-east and south of Brazil were recruited for this investigation. The c.388A>G (rs2306283), c.463C>A (rs11045819) and c.521T>C (rs4149056) SNPs in the SLCO1B1 gene and c.334T>G (rs4149117) and c.699G>A (rs7311358) SNPs in the SLCO1B3 gene were determined by Taqman 5'-nuclease assays. The ABCB1 c.1236C>T (rs1128503), c.2677G>T/A (rs2032582) and c.3435C>T (rs1045642) polymorphisms were genotyped using a previously described single-base extension/termination method. The results showed that genotype and haplotype distributions are highly variable among populations of the same self-reported colour and geographical region. However, genomic ancestry showed that these associations are better explained by a continuous variable. The influence of ancestry on the distribution of alleles and haplotype frequencies was more evident in variants with large differences in allele frequencies between European and African populations. Design and interpretation of pharmacogenetic studies using these transporter genes should include genomic controls to avoid spurious conclusions based on improper matching of study cohorts from Brazilian populations and other highly admixed populations. © 2011 The Authors. Basic & Clinical Pharmacology & Toxicology © 2011 Nordic Pharmacological Society.

  11. Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium

    Science.gov (United States)

    Lu, Yingchang; Justice, Anne E.; Mudgal, Poorva; Liu, Ching-Ti; Young, Kristin; Feitosa, Mary F.; Rand, Kristin; Dimitrov, Latchezar; Duan, Qing; Guo, Xiuqing; Lange, Leslie A.; Nalls, Michael A.; Okut, Hayrettin; Tayo, Bamidele O.; Vedantam, Sailaja; Bradfield, Jonathan P.; Chen, Guanjie; Chesi, Alessandra; Irvin, Marguerite R.; Padhukasahasram, Badri; Zheng, Wei; Allison, Matthew A.; Ambrosone, Christine B.; Bandera, Elisa V.; Berndt, Sonja I.; Blot, William J.; Bottinger, Erwin P.; Carpten, John; Chanock, Stephen J.; Chen, Yii-Der Ida; Conti, David V.; Cooper, Richard S.; Fornage, Myriam; Freedman, Barry I.; Garcia, Melissa; Goodman, Phyllis J.; Hsu, Yu-Han H.; Hu, Jennifer; Huff, Chad D.; Ingles, Sue A.; John, Esther M.; Kittles, Rick; Klein, Eric; Li, Jin; McKnight, Barbara; Nayak, Uma; Nemesure, Barbara; Olshan, Andrew; Salako, Babatunde; Sanderson, Maureen; Shao, Yaming; Siscovick, David S.; Stanford, Janet L.; Strom, Sara S.; Witte, John S.; Yao, Jie; Zhu, Xiaofeng; Ziegler, Regina G.; Zonderman, Alan B.; Ambs, Stefan; Cushman, Mary; Faul, Jessica D.; Hakonarson, Hakon; Levin, Albert M.; Nathanson, Katherine L.; Weir, David R.; Zhi, Degui; Arnett, Donna K.; Kardia, Sharon L. R.; Oloapde, Olufunmilayo I.; Rao, D. C.; Williams, L. Keoki; Becker, Diane M.; Borecki, Ingrid B.; Evans, Michele K.; Harris, Tamara B.; Hirschhorn, Joel N.; Psaty, Bruce M.; Wilson, James G.; Bowden, Donald W.; Cupples, L. Adrienne; Haiman, Christopher A.; Loos, Ruth J. F.; North, Kari E.

    2017-01-01

    Genome-wide association studies (GWAS) have identified >300 loci associated with measures of adiposity including body mass index (BMI) and waist-to-hip ratio (adjusted for BMI, WHRadjBMI), but few have been identified through screening of the African ancestry genomes. We performed large scale meta-analyses and replications in up to 52,895 individuals for BMI and up to 23,095 individuals for WHRadjBMI from the African Ancestry Anthropometry Genetics Consortium (AAAGC) using 1000 Genomes phase 1 imputed GWAS to improve coverage of both common and low frequency variants in the low linkage disequilibrium African ancestry genomes. In the sex-combined analyses, we identified one novel locus (TCF7L2/HABP2) for WHRadjBMI and eight previously established loci at P < 5×10−8: seven for BMI, and one for WHRadjBMI in African ancestry individuals. An additional novel locus (SPRYD7/DLEU2) was identified for WHRadjBMI when combined with European GWAS. In the sex-stratified analyses, we identified three novel loci for BMI (INTS10/LPL and MLC1 in men, IRX4/IRX2 in women) and four for WHRadjBMI (SSX2IP, CASC8, PDE3B and ZDHHC1/HSD11B2 in women) in individuals of African ancestry or both African and European ancestry. For four of the novel variants, the minor allele frequency was low (<5%). In the trans-ethnic fine mapping of 47 BMI loci and 27 WHRadjBMI loci that were locus-wide significant (P < 0.05 adjusted for effective number of variants per locus) from the African ancestry sex-combined and sex-stratified analyses, 26 BMI loci and 17 WHRadjBMI loci contained ≤ 20 variants in the credible sets that jointly account for 99% posterior probability of driving the associations. The lead variants in 13 of these loci had a high probability of being causal. As compared to our previous HapMap imputed GWAS for BMI and WHRadjBMI including up to 71,412 and 27,350 African ancestry individuals, respectively, our results suggest that 1000 Genomes imputation showed modest improvement in

  12. Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.

    Science.gov (United States)

    Ng, Maggie C Y; Graff, Mariaelisa; Lu, Yingchang; Justice, Anne E; Mudgal, Poorva; Liu, Ching-Ti; Young, Kristin; Yanek, Lisa R; Feitosa, Mary F; Wojczynski, Mary K; Rand, Kristin; Brody, Jennifer A; Cade, Brian E; Dimitrov, Latchezar; Duan, Qing; Guo, Xiuqing; Lange, Leslie A; Nalls, Michael A; Okut, Hayrettin; Tajuddin, Salman M; Tayo, Bamidele O; Vedantam, Sailaja; Bradfield, Jonathan P; Chen, Guanjie; Chen, Wei-Min; Chesi, Alessandra; Irvin, Marguerite R; Padhukasahasram, Badri; Smith, Jennifer A; Zheng, Wei; Allison, Matthew A; Ambrosone, Christine B; Bandera, Elisa V; Bartz, Traci M; Berndt, Sonja I; Bernstein, Leslie; Blot, William J; Bottinger, Erwin P; Carpten, John; Chanock, Stephen J; Chen, Yii-Der Ida; Conti, David V; Cooper, Richard S; Fornage, Myriam; Freedman, Barry I; Garcia, Melissa; Goodman, Phyllis J; Hsu, Yu-Han H; Hu, Jennifer; Huff, Chad D; Ingles, Sue A; John, Esther M; Kittles, Rick; Klein, Eric; Li, Jin; McKnight, Barbara; Nayak, Uma; Nemesure, Barbara; Ogunniyi, Adesola; Olshan, Andrew; Press, Michael F; Rohde, Rebecca; Rybicki, Benjamin A; Salako, Babatunde; Sanderson, Maureen; Shao, Yaming; Siscovick, David S; Stanford, Janet L; Stevens, Victoria L; Stram, Alex; Strom, Sara S; Vaidya, Dhananjay; Witte, John S; Yao, Jie; Zhu, Xiaofeng; Ziegler, Regina G; Zonderman, Alan B; Adeyemo, Adebowale; Ambs, Stefan; Cushman, Mary; Faul, Jessica D; Hakonarson, Hakon; Levin, Albert M; Nathanson, Katherine L; Ware, Erin B; Weir, David R; Zhao, Wei; Zhi, Degui; Arnett, Donna K; Grant, Struan F A; Kardia, Sharon L R; Oloapde, Olufunmilayo I; Rao, D C; Rotimi, Charles N; Sale, Michele M; Williams, L Keoki; Zemel, Babette S; Becker, Diane M; Borecki, Ingrid B; Evans, Michele K; Harris, Tamara B; Hirschhorn, Joel N; Li, Yun; Patel, Sanjay R; Psaty, Bruce M; Rotter, Jerome I; Wilson, James G; Bowden, Donald W; Cupples, L Adrienne; Haiman, Christopher A; Loos, Ruth J F; North, Kari E

    2017-04-01

    Genome-wide association studies (GWAS) have identified >300 loci associated with measures of adiposity including body mass index (BMI) and waist-to-hip ratio (adjusted for BMI, WHRadjBMI), but few have been identified through screening of the African ancestry genomes. We performed large scale meta-analyses and replications in up to 52,895 individuals for BMI and up to 23,095 individuals for WHRadjBMI from the African Ancestry Anthropometry Genetics Consortium (AAAGC) using 1000 Genomes phase 1 imputed GWAS to improve coverage of both common and low frequency variants in the low linkage disequilibrium African ancestry genomes. In the sex-combined analyses, we identified one novel locus (TCF7L2/HABP2) for WHRadjBMI and eight previously established loci at P ancestry individuals. An additional novel locus (SPRYD7/DLEU2) was identified for WHRadjBMI when combined with European GWAS. In the sex-stratified analyses, we identified three novel loci for BMI (INTS10/LPL and MLC1 in men, IRX4/IRX2 in women) and four for WHRadjBMI (SSX2IP, CASC8, PDE3B and ZDHHC1/HSD11B2 in women) in individuals of African ancestry or both African and European ancestry. For four of the novel variants, the minor allele frequency was low (ancestry sex-combined and sex-stratified analyses, 26 BMI loci and 17 WHRadjBMI loci contained ≤ 20 variants in the credible sets that jointly account for 99% posterior probability of driving the associations. The lead variants in 13 of these loci had a high probability of being causal. As compared to our previous HapMap imputed GWAS for BMI and WHRadjBMI including up to 71,412 and 27,350 African ancestry individuals, respectively, our results suggest that 1000 Genomes imputation showed modest improvement in identifying GWAS loci including low frequency variants. Trans-ethnic meta-analyses further improved fine mapping of putative causal variants in loci shared between the African and European ancestry populations.

  13. Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.

    Directory of Open Access Journals (Sweden)

    Maggie C Y Ng

    2017-04-01

    Full Text Available Genome-wide association studies (GWAS have identified >300 loci associated with measures of adiposity including body mass index (BMI and waist-to-hip ratio (adjusted for BMI, WHRadjBMI, but few have been identified through screening of the African ancestry genomes. We performed large scale meta-analyses and replications in up to 52,895 individuals for BMI and up to 23,095 individuals for WHRadjBMI from the African Ancestry Anthropometry Genetics Consortium (AAAGC using 1000 Genomes phase 1 imputed GWAS to improve coverage of both common and low frequency variants in the low linkage disequilibrium African ancestry genomes. In the sex-combined analyses, we identified one novel locus (TCF7L2/HABP2 for WHRadjBMI and eight previously established loci at P < 5×10-8: seven for BMI, and one for WHRadjBMI in African ancestry individuals. An additional novel locus (SPRYD7/DLEU2 was identified for WHRadjBMI when combined with European GWAS. In the sex-stratified analyses, we identified three novel loci for BMI (INTS10/LPL and MLC1 in men, IRX4/IRX2 in women and four for WHRadjBMI (SSX2IP, CASC8, PDE3B and ZDHHC1/HSD11B2 in women in individuals of African ancestry or both African and European ancestry. For four of the novel variants, the minor allele frequency was low (<5%. In the trans-ethnic fine mapping of 47 BMI loci and 27 WHRadjBMI loci that were locus-wide significant (P < 0.05 adjusted for effective number of variants per locus from the African ancestry sex-combined and sex-stratified analyses, 26 BMI loci and 17 WHRadjBMI loci contained ≤ 20 variants in the credible sets that jointly account for 99% posterior probability of driving the associations. The lead variants in 13 of these loci had a high probability of being causal. As compared to our previous HapMap imputed GWAS for BMI and WHRadjBMI including up to 71,412 and 27,350 African ancestry individuals, respectively, our results suggest that 1000 Genomes imputation showed modest improvement

  14. Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

    NARCIS (Netherlands)

    Kato, Norihiro; Loh, Marie; Takeuchi, Fumihiko; Verweij, Niek; Wang, Xu; Zhang, Weihua; Kelly, Tanika N.; Saleheen, Danish; Lehne, Benjamin; Leach, Irene Mateo; Drong, Alexander W.; Abbott, James; Wahl, Simone; Tan, Sian-Tsung; Scott, William R.; Campanella, Gianluca; Chadeau-Hyam, Marc; Afzal, Uzma; Ahluwalia, Tarunveer S.; Bonder, Marc Jan; Chen, Peng; Dehghan, Abbas; Edwards, Todd L.; Esko, Tonu; Go, Min Jin; Harris, Sarah E.; Hartiala, Jaana; Kasela, Silva; Kasturiratne, Anuradhani; Khor, Chiea-Chuen; Kleber, Marcus E.; Li, Huaixing; Mok, Zuan Yu; Nakatochi, Masahiro; Sapari, Nur Sabrina; Saxena, Richa; Stewart, Alexandre F. R.; Stolk, Lisette; Tabara, Yasuharu; Teh, Ai Ling; Wu, Ying; Wu, Jer-Yuarn; Zhang, Yi; Aits, Imke; Alves, Alexessander Da Silva Couto; Das, Shikta; Dorajoo, Rajkumar; Hopewell, Jemma C.; Kim, Yun Kyoung; Koivula, Robert W.; Luan, Jian'an; Lyytikainen, Leo-Pekka; Nguyen, Quang N.; Pereira, Mark A.; Postmus, Iris; Raitakari, Olli T.; Bryan, Molly Scannell; Scott, Robert A.; Sorice, Rossella; Tragante, Vinicius; Traglia, Michela; White, Jon; Yamamoto, Ken; Zhang, Yonghong; Adair, Linda S.; Ahmed, Alauddin; Akiyama, Koichi; Asif, Rasheed; Aung, Tin; Barroso, Ines; Bjonnes, Andrew; Braun, Timothy R.; Cai, Hui; Chang, Li-Ching; Chen, Chien-Hsiun; Cheng, Ching-Yu; Chong, Yap-Seng; Collins, Rory; Courtney, Regina; Davies, Gail; Delgado, Graciela; Do, Loi D.; Doevendans, Pieter A.; Gansevoort, Ron T.; Gao, Yu-Tang; Grammer, Tanja B.; Grarup, Niels; Grewal, Jagvir; Gu, Dongfeng; Wander, Gurpreet S.; Hartikainen, Anna-Liisa; Hazen, Stanley L.; He, Jing; Heng, Chew-Kiat; Hixson, James E.; Hofman, Albert; Hsu, Chris; Huang, Wei; Husemoen, Lise L. N.; Hwang, Joo-Yeon; Ichihara, Sahoko; Igase, Michiya; Isono, Masato; Justesen, Johanne M.; Katsuy, Tomohiro; Kibriya, Muhammad G.; Kim, Young Jin; Kishimoto, Miyako; Koh, Woon-Puay; Kohara, Katsuhiko; Kumari, Meena; Kwek, Kenneth; Lee, Nanette R.; Lee, Jeannette; Liao, Jiemin; Lieb, Wolfgang; Liewald, David C. M.; Matsubara, Tatsuaki; Matsushita, Yumi; Meitinger, Thomas; Mihailov, Evelin; Milani, Lili; Mills, Rebecca; Mononen, Nina; Mueller-Nurasyid, Martina; Nabika, Toru; Nakashima, Eitaro; Ng, Hong Kiat; Nikus, Kjell; Nutile, Teresa; Ohkubo, Takayoshi; Ohnaka, Keizo; Parish, Sarah; Paternoster, Lavinia; Peng, Hao; Peters, Annette; Pham, Son T.; Pinidiyapathirage, Mohitha J.; Rahman, Mahfuzar; Rakugi, Hiromi; Rolandsson, Olov; Rozario, Michelle Ann; Ruggiero, Daniela; Sala, Cinzia F.; Sarju, Ralhan; Shimokawa, Kazuro; Snieder, Harold; Sparso, Thomas; Spiering, Wilko; Starr, John M.; Stott, David J.; Stram, Daniel O.; Sugiyama, Takao; Szymczak, Silke; Tang, W. H. Wilson; Tong, Lin; Trompet, Stella; Turjanmaa, Vaino; Ueshima, Hirotsugu; Uitterlinden, Andre G.; Umemura, Satoshi; Vaarasmaki, Marja; van Dam, Rob M.; van Gilst, Wiek H.; van Veldhuisen, Dirk J.; Viikari, Jorma S.; Waldenberger, Melanie; Wang, Yiqin; Wang, Aili; Wilson, Rory; Wong, Tien-Yin; Xiang, Yong-Bing; Yamaguchi, Shuhei; Ye, Xingwang; Young, Robin D.; Young, Terri L.; Yuan, Jian-Min; Zhou, Xueya; Asselbergs, Folkert W.; Ciullo, Marina; Clarke, Robert; Deloukas, Panos; Franke, Andre; Franks, Paul W.; Franks, Steve; Friedlander, Yechiel; Gross, Myron D.; Guo, Zhirong; Hansen, Torben; Jarvelin, Marjo-Riitta; Jorgensen, Torben; Jukema, J. Wouter; Kahonen, Mika; Kajio, Hiroshi; Kivimaki, Mika; Lee, Jong-Young; Lehtimaki, Terho; Linneberg, Allan; Miki, Tetsuro; Pedersen, Oluf; Samani, Nilesh J.; Sorensen, Thorkild I. A.; Takayanagi, Ryoichi; Toniolo, Daniela; Ahsan, Habibul; Allayee, Hooman; Chen, Yuan-Tsong; Danesh, John; Deary, Ian J.; Franco, Oscar H.; Franke, Lude; Heijman, Bastiaan T.; Holbrook, Joanna D.; Isaacs, Aaron; Kim, Bong-Jo; Lin, Xu; Liu, Jianjun; Maerz, Winfried; Metspalu, Andres; Mohlke, Karen L.; Sanghera, Dharambir K.; Shu, Xiao-Ou; van Meurs, Joyce B. J.; Vithana, Eranga; Wickremasinghe, Ananda R.; Wijmenga, Cisca; Wolffenbuttel, Bruce H. W.; Yokota, Mitsuhiro; Zheng, Wei; Zhu, Dingliang; Vineis, Paolo; Kyrtopoulos, Soterios A.; Kleinjans, Jos C. S.; McCarthy, Mark I.; Soong, Richie; Gieger, Christian; Scott, James; Teo, Yik-Ying; He, Jiang; Elliott, Paul; Tai, E. Shyong; van der Harst, Pim; Kooner, Jaspal S.; Chambers, John C.

    2015-01-01

    We carried out a trans-ancestry genome-wide association and replication study of blood pressure phenotypes among up to 320,251 individuals of East Asian, European and South Asian ancestry. We find genetic variants at 12 new loci to be associated with blood pressure (P = 3.9 x 10(-11) to 5.0 x

  15. Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

    NARCIS (Netherlands)

    N. Kato (Norihiro); M. Loh (Marie); F. Takeuchi (Fumihiko); N. Verweij (Niek); X. Wang (Xu); W. Zhang (Weihua); T. NKelly (Tanika); D. Saleheen; B. Lehne (Benjamin); I.M. Leach (Irene Mateo); A. Drong (Alexander); J. Abbott (James); S. Wahl (Simone); S.-T. Tan (Sian-Tsung); W.R. Scott (William R.); G. Campanella (Gianluca); M. Chadeau-Hyam (Marc); U. Afzal (Uzma); T.S. Ahluwalia (Tarunveer Singh); M.J. Bonder (Marc); P. Chen (Ping); A. Dehghan (Abbas); T.L. Edwards (Todd L.); T. Esko (Tõnu); M.J. Go (Min Jin); S.E. Harris (Sarah); J. Hartiala (Jaana); S. Kasela (Silva); A. Kasturiratne (Anuradhani); C.C. Khor; M.E. Kleber (Marcus); H. Li (Huaixing); Z.Y. Mok (Zuan Yu); M. Nakatochi (Masahiro); N.S. Sapari (Nur Sabrina); R. Saxena (Richa); A.F. Stewart (Alexandre F.); L. Stolk (Lisette); Y. Tabara (Yasuharu); A.L. Teh (Ai Ling); Y. Wu (Ying); J.-Y. Wu (Jer-Yuarn); Y. Zhang (Yi); I. Aits (Imke); A. Da Silva Couto Alves (Alexessander); S. Das (Shikta); R. Dorajoo (Rajkumar); J. CHopewell (Jemma); Y.K. Kim (Yun Kyoung); R. WKoivula (Robert); J. Luan (Jian'An); L.-P. Lyytikäinen (Leo-Pekka); Q. NNguyen (Quang); M.A. Pereira (Mark A); D. Postmus (Douwe); O. TRaitakari (Olli); M. Scannell Bryan (Molly); R.A. Scott (Robert); R. Sorice; V. Tragante (Vinicius); M. Traglia (Michela); J. White (Jon); K. Yamamoto (Ken); Y. Zhang (Yonghong); L.S. Adair (Linda); A. Ahmed (Alauddin); K. Akiyama (Koichi); R. Asif (Rasheed); T. Aung (Tin); I. Barroso (Inês); A. Bjonnes (Andrew); T.R. Braun (Timothy R.); H. Cai (Hui); L.-C. Chang (Li-Ching); C.-H. Chen; C-Y. Cheng (Ching-Yu); Y.-S. Chong (Yap-Seng); F.S. Collins (Francis); R. Courtney (Regina); G. Davies (Gail); G. Delgado; L.D. Do (Loi D.); P.A. Doevendans (Pieter); R.T. Gansevoort (Ron); Y. Gao; T.B. Grammer (Tanja B); N. Grarup (Niels); J. Grewal (Jagvir); D. Gu (D.); G. SWander (Gurpreet); A.L. Hartikainen; S.L. Hazen (Stanley); J. He (Jing); C.K. Heng (Chew-Kiat); E.J.A. Hixso (E. James Ames); A. Hofman (Albert); C. Hsu (Chris); W. Huang (Wei); L.L.N. Husemoen (Lise Lotte); J.-Y. Hwang (Joo-Yeon); S. Ichihara (Sahoko); M. Igase (Michiya); M. Isono (Masato); J.M. Justesen (Johanne M.); T. Katsuya (Tomohiro); M. GKibriya (Muhammad); Y.J. Kim; M. Kishimoto (Miyako); W.-P. Koh (Woon-Puay); K. Kohara (Katsuhiko); M. Kumari (Meena); K. Kwek (Kenneth); N.R. Lee (Nanette); J. Lee (Jeannette); J. Liao (Jie); W. Lieb (Wolfgang); D.C. Liewald (David C.); T. Matsubara (Tatsuaki); Y. Matsushita (Yumi); T. Meitinger (Thomas); E. Mihailov (Evelin); L. Milani (Lili); R. Mills (Rebecca); K. Mononen (Kari); M. Müller-Nurasyid (Martina); T. Nabika (Toru); E. Nakashima (Eitaro); H.K. Ng (Hong Kiat); K. Nikus (Kjell); T. Nutile; T. Ohkubo (Takayoshi); K. Ohnaka (Keizo); S. Parish (Sarah); L. Paternoster (Lavinia); H. Peng (Hao); A. Peters (Annette); S. TPham (Son); M.J. Pinidiyapathirage (Mohitha J.); M. Rahman (Mahfuzar); H. Rakugi (Hiromi); O. Rolandsson (Olov); M.A. Rozario (Michelle Ann); D. Ruggiero; C. Sala (Cinzia); R. Sarju (Ralhan); K. Shimokawa (Kazuro); H. Snieder (Harold); T. Sparsø (Thomas); W. Spiering (Wilko); J.M. Starr (John); D.J. Stott (David J.); D. OStram (Daniel); T. Sugiyama (Takao); S. Szymczak (Silke); W.H.W. Tang (W.H. Wilson); L. Tong (Lin); S. Trompet (Stella); V. Turjanmaa (Väinö); H. Ueshima (Hirotsugu); A.G. Uitterlinden (André); S. Umemura (Satoshi); M. Vaarasmaki (Marja); R.M. Dam (Rob Mvan); W.H. van Gilst (Wiek); D.J. van Veldhuisen (Dirk); J. Viikari (Jorma); M. Waldenberger (Melanie); Y. Wang (Yiqin); A. Wang (Aili); R. Wilson (Rory); T.Y. Wong (Tien Yin); Y.-B. Xiang (Yong-Bing); S. Yamaguchi (Shuhei); X. Ye (Xingwang); R. Young (Robin); T.L. Young (Terri); J.-M. Yuan (Jian-Min); X. Zhou (Xueya); F.W. Asselbergs (Folkert); M. Ciullo; R. Clarke (Robert); P. Deloukas (Panagiotis); A. Franke (Andre); W.F. Paul (W. Frank); S. Franks (Steve); Y. Friedlander (Yechiel); M.D. Gross (Myron D.); Z. Guo (Zhirong); T. Hansen (T.); M.-R. Jarvelin (Marjo-Riitta); T. Jørgensen (Torben); J.W. Jukema (Jan Wouter); M. Kähönen (Mika); H. Kajio (Hiroshi); M. Kivimaki (Mika); J.-Y. Lee (Jong-Young); T. Lehtimäki (Terho); A. Linneberg (Allan); T. Miki (Tetsuro); O. Pedersen (Oluf); N.J. Samani (Nilesh); T.I.A. Sørensen (Thorkild); R. Takayanagi (Ryoichi); D. Toniolo (Daniela); H. Ahsan (Habibul); H. Allayee (Hooman); Y.-T. Chen (Yuan-Tsong); J. Danesh (John); I.J. Deary (Ian J.); O.H. Franco (Oscar); L. Franke (Lude); B. THeijman (Bastiaan); J.D. Holbrook (Joanna D.); A.J. Isaacs (Aaron); B.-J. Kim (Bong-Jo); X. Lin (Xu); J. Liu (Jianjun); W. März (Winfried); A. Metspalu (Andres); K.L. Mohlke (Karen); K. Sangher; D. Harambir (Dharambir); X.-O. Shu (Xiao-Ou); J.B.J. van Meurs (Joyce); E.N. Vithana (Eranga); A.R. Wickremasinghe (Ananda); C. Wijmenga (Cisca); B.H.W. Wolffenbuttel (Bruce H.W.); M. Yokota (Mitsuhiro); W. Zheng (Wei); D. Zhu (Dingliang); P. Vineis (Paolo); S.A. Kyrtopoulos (Soterios A.); J.C.S. Kleinjans (Jos C.S.); M.I. McCarthy (Mark); R. Soong (Richie); C. Gieger (Christian); J. Scott (James); Y.Y. Teo (Yik Ying); J. He (Jiang); P. Elliott (Paul); E.S. Tai (Shyong); P. van der Harst (Pim); J.S. Kooner (Jaspal S.); J.C. Chambers (John)

    2015-01-01

    textabstractWe carried out a trans-ancestry genome-wide association and replication study of blood pressure phenotypes among up to 320,251 individuals of East Asian, European and South Asian ancestry. We find genetic variants at 12 new loci to be associated with blood pressure (P = 3.9 × 10 -11 to

  16. Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

    DEFF Research Database (Denmark)

    Kato, Norihiro; Loh, Marie; Takeuchi, Fumihiko

    2015-01-01

    We carried out a trans-ancestry genome-wide association and replication study of blood pressure phenotypes among up to 320,251 individuals of East Asian, European and South Asian ancestry. We find genetic variants at 12 new loci to be associated with blood pressure (P = 3.9 × 10(-11) to 5.0 × 10(...

  17. Geography and genography: prediction of continental origin using randomly selected single nucleotide polymorphisms

    Directory of Open Access Journals (Sweden)

    Ramoni Marco F

    2007-03-01

    Full Text Available Abstract Background Recent studies have shown that when individuals are grouped on the basis of genetic similarity, group membership corresponds closely to continental origin. There has been considerable debate about the implications of these findings in the context of larger debates about race and the extent of genetic variation between groups. Some have argued that clustering according to continental origin demonstrates the existence of significant genetic differences between groups and that these differences may have important implications for differences in health and disease. Others argue that clustering according to continental origin requires the use of large amounts of genetic data or specifically chosen markers and is indicative only of very subtle genetic differences that are unlikely to have biomedical significance. Results We used small numbers of randomly selected single nucleotide polymorphisms (SNPs from the International HapMap Project to train naïve Bayes classifiers for prediction of ancestral continent of origin. Predictive accuracy was tested on two independent data sets. Genetically similar groups should be difficult to distinguish, especially if only a small number of genetic markers are used. The genetic differences between continentally defined groups are sufficiently large that one can accurately predict ancestral continent of origin using only a minute, randomly selected fraction of the genetic variation present in the human genome. Genotype data from only 50 random SNPs was sufficient to predict ancestral continent of origin in our primary test data set with an average accuracy of 95%. Genetic variations informative about ancestry were common and widely distributed throughout the genome. Conclusion Accurate characterization of ancestry is possible using small numbers of randomly selected SNPs. The results presented here show how investigators conducting genetic association studies can use small numbers of arbitrarily

  18. The mtDNA ancestry of admixed Colombian populations.

    Science.gov (United States)

    Salas, A; Acosta, A; Alvarez-Iglesias, V; Cerezo, M; Phillips, C; Lareu, M V; Carracedo, A

    2008-01-01

    A total of 185 individuals from Colombia were sequenced for the first hypervariable region (HVS-I) of the mitochondrial DNA (mtDNA) genome, and a subset of these individuals were additionally genotyped for the second hypervariable segment (HVS-II). These individuals were collected according to their "self-reported ethnicity" in Colombia, comprising "Mestizos," "Mulatos," and "Afro-Colombians." We used databases containing more than 4,300 Native American lineages, 6,800 Africans, and 15,600 Europeans for population comparisons and phylogeographic inferences. We observe that Mulatos and Afro-Colombians have a dominant African mtDNA component, whereas Mestizos carry predominantly Native American haplotypes. All the populations analyzed have high diversity indices and there are no signatures of dramatic genetic drift episodes. Central and South America are the main candidate source populations of the Colombian Native American lineages, whereas west-central, southwest, and southeast Africa are the main original mtDNA sources for the African Colombian mtDNAs. We found that our results differ from those obtained in other studies for the same "population groups" in terms of haplogroup frequencies. This observation leads us to conclude that (i) self-reported ancestry is not a reliable proxy to indicate an individual's "ethnicity" in Colombia, (ii) our results do not support the use of outmoded race descriptions (Mestizos, Mulatos, etc.) mainly because these labels do not correspond to any genetically homogeneous population group, and (iii) studies relying on these terms to describe the population group of the individual, which then treat them as genetically homogeneous, carry a high risk of type I error (false positives) in medical studies in this country and of misinterpretation of the frequency of observed variation in forensic casework. (c) 2008 Wiley-Liss, Inc.

  19. Deprivation and AIDS in a southern European city: different patterns across transmission group.

    Science.gov (United States)

    Brugal, M Teresa; Borrell, Carme; Díaz-Quijano, Estela; Pasarín, M Isabel; García-Olalla, Patricia; Villalbí, Joan R

    2003-09-01

    To analyse deprivation and AIDS among three AIDS transmission groups (men who have sex with men--MSM, heterosexuals, and intravenous drug users--IDUs) in Barcelona, Spain, during the period 1990-95. This is an ecological study, the unit of analysis being the neighbourhoods. Included were AIDS cases residents in Barcelona. The association among AIDS rate and deprivation was studied using Spearman correlation coefficients and Poisson regression. For MSM, inner city neighbourhood residence meant a greater risk of AIDS; but lower educational level was inversely related with AIDS rates. For heterosexuals, variables related with AIDS rates were younger age, inner city areas and social unrest for women, and extreme poverty for men. Among UDIs variables related with AIDS were unemployment and social unrest for both sexes. The association between AIDS rates and deprivation differs across transmission groups in a southern European city.

  20. Why Do MEPs Defect? An Analysis of Party Group Cohesion in the 5 th European Parliament

    Directory of Open Access Journals (Sweden)

    Thorsten Faas

    2002-03-01

    Full Text Available This study analyses party group cohesion and patterns of defections of national party delegations from party group lines in the present European Parliament, using a total of 1,370 roll call votes. The study confirms previous findings according to which party groups in the EP show (surprisingly high levels of cohesion. In addition and notwithstanding that, it reveals the circumstances under which MEPs and their national delegations are more likely to defect. Among other factors, it was analysed how the nature of the candidate selection process, the electoral system, and the relationships between MEPs and their home parties influence these defections. Assuming that MEPs have three different goals (re-election, office, and policy and want to first of all secure re-election, one can theoretically expect that those MEPs whose chances of re-election are more dependent on national parties than others’ (due to their specific candidate selection process or their relationship to their home party are more willing to vote against the party group line, if a conflict between party group and national party emerges. Empirically, this is confirmed. In other words, MEPs in general are very well aware of their specific situation. They know who deserves their primary attention and they act accordingly.

  1. Association of serum lipid components and obesity with genetic ancestry in an admixed population of elderly women.

    Science.gov (United States)

    Lins, Tulio C; Pires, Alause S; Paula, Roberta S; Moraes, Clayton F; Vieira, Rodrigo G; Vianna, Lucy G; Nobrega, Otávio T; Pereira, Rinaldo W

    2012-07-01

    The prevalence of metabolic disorders varies among ethnic populations and these disorders represent a critical health care issue for elderly women. This study investigated the correlation between genetic ancestry and body composition, metabolic traits and clinical status in a sample of elderly women. Clinical, nutritional and anthropometric data were collected from 176 volunteers. Genetic ancestry was estimated using 23 ancestry-informative markers. Pearsons correlation test was used to examine the relationship between continuous variables and an independent samples t-test was used to compare the means of continuous traits within categorical variables. Overall ancestry was a combination of European (57.49%), Native American (25.78%) and African (16.73%). Significant correlations were found for European ancestry with body mass index (r = 0.165; p = 0.037) and obesity (mean difference (MD) = 5.3%; p = 0.042). African ancestry showed a significant correlation with LDL (r = 0.159, p = 0.035), VLDL (r = -0.185; p = 0.014), hypertriglyceridemia (MD = 6.4%; p = 0.003) and hyperlipidemia (MD = 4.8%; p = 0.026). Amerindian ancestry showed a significant correlation with triglyceride levels (r = 0.150; p = 0.047) and hypertriglyceridemia (MD = 4.5%; p = 0.039). These findings suggest that genetic admixture may influence the etiology of lipid metabolism-related diseases and obesity in elderly women.

  2. Association of serum lipid components and obesity with genetic ancestry in an admixed population of elderly women

    Directory of Open Access Journals (Sweden)

    Tulio C. Lins

    2012-01-01

    Full Text Available The prevalence of metabolic disorders varies among ethnic populations and these disorders represent a critical health care issue for elderly women. This study investigated the correlation between genetic ancestry and body composition, metabolic traits and clinical status in a sample of elderly women. Clinical, nutritional and anthropometric data were collected from 176 volunteers. Genetic ancestry was estimated using 23 ancestry-informative markers. Pearsons correlation test was used to examine the relationship between continuous variables and an independent samples t-test was used to compare the means of continuous traits within categorical variables. Overall ancestry was a combination of European (57.49%, Native American (25.78% and African (16.73%. Significant correlations were found for European ancestry with body mass index (r = 0.165; p = 0.037 and obesity (mean difference (MD = 5.3%; p = 0.042. African ancestry showed a significant correlation with LDL (r = 0.159, p = 0.035, VLDL (r = -0.185; p = 0.014, hypertriglyceridemia (MD = 6.4%; p = 0.003 and hyperlipidemia (MD = 4.8%; p = 0.026. Amerindian ancestry showed a significant correlation with triglyceride levels (r = 0.150; p = 0.047 and hypertriglyceridemia (MD = 4.5%; p = 0.039. These findings suggest that genetic admixture may influence the etiology of lipid metabolism-related diseases and obesity in elderly women.

  3. Abraham's children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern Ancestry.

    Science.gov (United States)

    Atzmon, Gil; Hao, Li; Pe'er, Itsik; Velez, Christopher; Pearlman, Alexander; Palamara, Pier Francesco; Morrow, Bernice; Friedman, Eitan; Oddoux, Carole; Burns, Edward; Ostrer, Harry

    2010-06-11

    For more than a century, Jews and non-Jews alike have tried to define the relatedness of contemporary Jewish people. Previous genetic studies of blood group and serum markers suggested that Jewish groups had Middle Eastern origin with greater genetic similarity between paired Jewish populations. However, these and successor studies of monoallelic Y chromosomal and mitochondrial genetic markers did not resolve the issues of within and between-group Jewish genetic identity. Here, genome-wide analysis of seven Jewish groups (Iranian, Iraqi, Syrian, Italian, Turkish, Greek, and Ashkenazi) and comparison with non-Jewish groups demonstrated distinctive Jewish population clusters, each with shared Middle Eastern ancestry, proximity to contemporary Middle Eastern populations, and variable degrees of European and North African admixture. Two major groups were identified by principal component, phylogenetic, and identity by descent (IBD) analysis: Middle Eastern Jews and European/Syrian Jews. The IBD segment sharing and the proximity of European Jews to each other and to southern European populations suggested similar origins for European Jewry and refuted large-scale genetic contributions of Central and Eastern European and Slavic populations to the formation of Ashkenazi Jewry. Rapid decay of IBD in Ashkenazi Jewish genomes was consistent with a severe bottleneck followed by large expansion, such as occurred with the so-called demographic miracle of population expansion from 50,000 people at the beginning of the 15th century to 5,000,000 people at the beginning of the 19th century. Thus, this study demonstrates that European/Syrian and Middle Eastern Jews represent a series of geographical isolates or clusters woven together by shared IBD genetic threads.

  4. The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America.

    Science.gov (United States)

    Kay, Chris; Tirado-Hurtado, Indira; Cornejo-Olivas, Mario; Collins, Jennifer A; Wright, Galen; Inca-Martinez, Miguel; Veliz-Otani, Diego; Ketelaar, Maria E; Slama, Ramy A; Ross, Colin J; Mazzetti, Pilar; Hayden, Michael R

    2017-02-01

    Huntington disease (HD) is a dominant neurodegenerative disorder caused by a CAG repeat expansion in the Huntingtin (HTT) gene. HD occurs worldwide, but the causative mutation is found on different HTT haplotypes in distinct ethnic groups. In Latin America, HD is thought to have European origins, but indigenous Amerindian ancestry has not been investigated. Here, we report dense HTT haplotypes in 62 mestizo Peruvian HD families, 17 HD families from across Latin America, and 42 controls of defined Peruvian Amerindian ethnicity to determine the origin of HD in populations of admixed Amerindian and European descent. HD in Peru occurs most frequently on the A1 HTT haplotype (73%), as in Europe, but on an unexpected indigenous variant also found in Amerindian controls. This Amerindian A1 HTT haplotype predominates over the European A1 variant among geographically disparate Latin American controls and in HD families from across Latin America, supporting an indigenous origin of the HD mutation in mestizo American populations. We also show that a proportion of HD mutations in Peru occur on a C1 HTT haplotype of putative Amerindian origin (14%). The majority of HD mutations in Latin America may therefore occur on haplotypes of Amerindian ancestry rather than on haplotypes resulting from European admixture. Despite the distinct ethnic ancestry of Amerindian and European A1 HTT, alleles on the parent A1 HTT haplotype allow for development of identical antisense molecules to selectively silence the HD mutation in the greatest proportion of patients in both Latin American and European populations.

  5. Microscopic colitis: Current status, present and future challenges: statements of the European Microscopic Colitis Group.

    Science.gov (United States)

    Münch, A; Aust, D; Bohr, J; Bonderup, O; Fernández Bañares, F; Hjortswang, H; Madisch, A; Munck, L K; Ström, M; Tysk, C; Miehlke, S

    2012-10-01

    Microscopic colitis (MC) is an inflammatory bowel disease presenting with chronic, non-bloody watery diarrhoea and few or no endoscopic abnormalities. The histological examination reveals mainly two subtypes of MC, lymphocytic or collagenous colitis. Despite the fact that the incidence in MC has been rising over the last decades, research has been sparse and our knowledge about MC remains limited. Specialists in the field have initiated the European Microscopic Colitis Group (EMCG) with the primary goal to create awareness on MC. The EMCG is furthermore a forum with the intention to promote clinical and basic research. In this article statements and comments are given that all members of the EMCG have considered being of importance for a better understanding of MC. The paper focuses on the newest updates in epidemiology, symptoms and diagnostic criteria, pathophysiology and highlights some unsolved problems. Moreover, a new treatment algorithm is proposed on the basis of new evidence from well-designed, randomized control trials. Copyright © 2012 European Crohn's and Colitis Organisation. Published by Elsevier B.V. All rights reserved.

  6. Epidemic threats to the European Union: expert views on six virus groups.

    Science.gov (United States)

    Kelly, L; Brouwer, A; Wilson, A; Gale, P; Snary, E; Ross, David; de Vos, C J

    2013-08-01

    In recent years, several animal disease epidemics have occurred within the European Union (EU). At the 4th Annual Meeting of the EPIZONE network (7-10 June 2010, St. Malo, France), an interactive session was run to elicit the opinions of delegates on a pre-defined list of epidemic threats to the EU. Responses from over 190 delegates, to questions relating to impact and likelihood, were used to rank six virus groups with respect to their perceived threat now (2010) and in 2020. The combined opinions of all delegates suggested that, from the pre-selected list of virus groups, foot-and-mouth disease and influenza are currently of most concern. Delegates thought that influenza would be less of a threat and zoonotic arboviruses would be more of a threat in 2020. Although the virus group rankings should not be taken as definitive, the results could be used in conjunction with experimental and field data, by scientists, policy-makers and stakeholders when assessing and managing risks associated with these virus groups. © 2012 Blackwell Verlag GmbH.

  7. European consensus conference on diagnosis and treatment of germ cell cancer: a report of the second meeting of the European Germ Cell Cancer Consensus group (EGCCCG): part I

    DEFF Research Database (Denmark)

    Krege, Susanne; Beyer, Jörg; Souchon, Rainer

    2007-01-01

    OBJECTIVES: The first consensus report presented by the European Germ Cell Cancer Consensus Group (EGCCCG) in the year 2004 has found widespread approval by many colleagues throughout the world. In November 2006, the group met a second time under the auspices of the Department of Urology of the A......OBJECTIVES: The first consensus report presented by the European Germ Cell Cancer Consensus Group (EGCCCG) in the year 2004 has found widespread approval by many colleagues throughout the world. In November 2006, the group met a second time under the auspices of the Department of Urology...... in 2004 remain valid 3 yr later, refinements in the treatment of early- and advanced-stage testicular cancer have emerged from clinical trials. Despite technical improvements, expert clinical skills will continue to be one of the major determinants for the prognosis of patients with germ cell cancer...

  8. Denisovan Ancestry in East Eurasian and Native American Populations

    National Research Council Canada - National Science Library

    Qin, Pengfei; Stoneking, Mark

    2015-01-01

    Although initial studies suggested that Denisovan ancestry was found only in modern human populations from island Southeast Asia and Oceania, more recent studies have suggested that Denisovan ancestry...

  9. Measurement Levels of the Spatial Integration – Suggestions for a Central-European Factor Group

    Directory of Open Access Journals (Sweden)

    Andrea Uszkai

    2015-10-01

    Full Text Available The objective of the study is to point out, what kind of measurement methodologies and factor groups are used to determinate the depth of the spatial integration in the national and international scientific literature. Integration means in this sense the interconnection of several (spatial units (Kulcsár-Rostás, 1989; Kovács, 2001; Kiss, 2005. One of the most widely interpreted types of the integration is the economic integration, which can be applied to enterprises and spatial units as well. This study focuses on the last one and examines it at three territorial levels, distinguishing global, supranational (among national states and subnational levels. The possible measurement methods are significantly determined by the spatial levels. The paper makes some suggestions for the possible measurement method in Cenrtral-European context.

  10. Breast cancer risk and genetic ancestry: a case-control study in Uruguay.

    Science.gov (United States)

    Bonilla, Carolina; Bertoni, Bernardo; Hidalgo, Pedro C; Artagaveytia, Nora; Ackermann, Elizabeth; Barreto, Isabel; Cancela, Paula; Cappetta, Mónica; Egaña, Ana; Figueiro, Gonzalo; Heinzen, Silvina; Hooker, Stanley; Román, Estela; Sans, Mónica; Kittles, Rick A

    2015-01-01

    Uruguay exhibits one of the highest rates of breast cancer in Latin America, similar to those of developed nations, the reasons for which are not completely understood. In this study we investigated the effect that ancestral background has on breast cancer susceptibility among Uruguayan women. We carried out a case-control study of 328 (164 cases, 164 controls) women enrolled in public hospitals and private clinics across the country. We estimated ancestral proportions using a panel of nuclear and mitochondrial ancestry informative markers (AIMs) and tested their association with breast cancer risk. Nuclear individual ancestry in cases was (mean ± SD) 9.8 ± 7.6% African, 13.2 ± 10.2% Native American and 77.1 ± 13.1% European, and in controls 9.1 ± 7.5% African, 14.7 ± 11.2% Native American and 76.2 ± 14.2% European. There was no evidence of a difference in nuclear or mitochondrial ancestry between cases and controls. However, European mitochondrial haplogroup H was associated with breast cancer (OR = 2.0; 95% CI 1.1, 3.5). We have not found evidence that overall genetic ancestry differs between breast cancer patients and controls in Uruguay but we detected an association of the disease with a European mitochondrial lineage, which warrants further investigation.

  11. Reviewing and addressing the link between mass media and the increase in obesity among European children: The European Academy of Paediatrics (EAP) and The European Childhood Obesity Group (ECOG) consensus statement.

    Science.gov (United States)

    Mazur, Artur; Caroli, Margherita; Radziewicz-Winnicki, Igor; Nowicka, Paulina; Weghuber, Daniel; Neubauer, David; Dembiński, Łukasz; Crawley, Francis P; White, Martin; Hadjipanayis, Adamos

    2017-11-22

    This study reviewed the link between social media and the growing epidemic of childhood obesity in Europe. A task force from the European Academy of Paediatrics and the European Childhood Obesity Group searched published literature and developed a consensus statement. It found that there was evidence of a strong link between obesity levels across European countries and childhood media exposure and that parents and society needed a better understanding of the influence of social media on dietary habits. Health policies in Europe must take account of the range of social media influences that promote the development of childhood obesity. ©2017 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  12. Genetic analysis of ancestry, admixture and selection in Bolivian and Totonac populations of the New World

    Directory of Open Access Journals (Sweden)

    Watkins W

    2012-05-01

    Full Text Available Abstract Background Populations of the Americas were founded by early migrants from Asia, and some have experienced recent genetic admixture. To better characterize the native and non-native ancestry components in populations from the Americas, we analyzed 815,377 autosomal SNPs, mitochondrial hypervariable segments I and II, and 36 Y-chromosome STRs from 24 Mesoamerican Totonacs and 23 South American Bolivians. Results and Conclusions We analyzed common genomic regions from native Bolivian and Totonac populations to identify 324 highly predictive Native American ancestry informative markers (AIMs. As few as 40–50 of these AIMs perform nearly as well as large panels of random genome-wide SNPs for predicting and estimating Native American ancestry and admixture levels. These AIMs have greater New World vs. Old World specificity than previous AIMs sets. We identify highly-divergent New World SNPs that coincide with high-frequency haplotypes found at similar frequencies in all populations examined, including the HGDP Pima, Maya, Colombian, Karitiana, and Surui American populations. Some of these regions are potential candidates for positive selection. European admixture in the Bolivian sample is approximately 12%, though individual estimates range from 0–48%. We estimate that the admixture occurred ~360–384 years ago. Little evidence of European or African admixture was found in Totonac individuals. Bolivians with pre-Columbian mtDNA and Y-chromosome haplogroups had 5–30% autosomal European ancestry, demonstrating the limitations of Y-chromosome and mtDNA haplogroups and the need for autosomal ancestry informative markers for assessing ancestry in admixed populations.

  13. National Advisory Groups and their role in immunization policy-making processes in European countries.

    Science.gov (United States)

    Nohynek, H; Wichmann, O; D Ancona, F

    2013-12-01

    During the twenty-first century, the development of national immunization programmes (NIP) has matured into robust processes where evidence-based methodologies and frameworks have increasingly been adopted. A key role in the decision-making and recommending processes is played by National Immunization Technical Advisory Groups (NITAGs). In a survey performed among European Union member states, Norway and Iceland, in February 2013, 85% of the 27 responding countries reported having established a NITAG, and of these, 45% have formal frameworks in place for the systematic development of vaccination recommendations. Independent of whether a formal framework is in place, common key factors are addressed by all NITAGs and also in countries without NITAGs. The four main factors addressed by all were: disease burden in the country, severity of the disease, vaccine effectiveness or efficacy, and vaccine safety at population level. Mathematical modelling and cost-effectiveness analyses are still not common tools. Differences in the relative weighting of these key factors, differences in data or assumptions on country-specific key factors, and differences in existing vaccination systems and financing, are likely to be reasons for differences in NITAG recommendations, and eventually NIPs, across Europe. Even if harmonization of NIPs is presently not a reasonable aim, systematic reviews and the development of mathematical/economic models could be performed at supranational level, thus sharing resources and easing the present work-load of NITAGs. Nevertheless, it has been argued that harmonization would ease central purchase of vaccines, thus reducing the price and increasing access to new vaccines. © 2013 The Authors Clinical Microbiology and Infection © 2013 European Society of Clinical Microbiology and Infectious Diseases.

  14. VKORC1 polymorphisms, haplotypes and haplotype groups on warfarin dose among African-Americans and European-Americans.

    Science.gov (United States)

    Limdi, Nita A; Beasley, T Mark; Crowley, Michael R; Goldstein, Joyce A; Rieder, Mark J; Flockhart, David A; Arnett, Donna K; Acton, Ronald T; Liu, Nianjun

    2008-10-01

    Although the influence of VKORC1 and CYP2C9 polymorphisms on warfarin response has been studied, variability in dose explained by CYP2C9 and VKORC1 is lower among African-Americans compared with European-Americans. This has lead investigators to hypothesize that assessment of VKORC1 haplotypes may help capture a greater proportion of the variability in dose for this under-represented group. However, the inadequate representation of African-Americans and the assessment of a few VKORC1 polymorphisms have hindered this effort. To determine if VKORC1 haplotypes or haplotype groups explain a higher variability in warfarin dose, we comprehensively assessed VKORC1 polymorphisms in 273 African-Americans and 302 European-Americans. The influence of VKORC1 polymorphisms, race-specific haplotypes and haplotype groups on warfarin dose was evaluated in race-stratified multivariable analyses after accounting for CYP2C9 (*2, *3, *5, *6 and *11) and clinical covariates. VKORC1 explained 18% (30% with CYP2C9) variability in warfarin dose among European-Americans and 5% (8% with CYP2C9) among African-Americans. Four common haplotypes in European-Americans and twelve in African-Americans were identified. In each race VKORC1 haplotypes emerged into two groups: low-dose (Group A) and high-dose (Group B). African-Americans had a lower frequency of Group A haplotype (10.6%) compared with European-Americans (35%, p haplotype or haplotype groups was similar to that of a single informative polymorphism. Our findings support the use of CYP2C9, VKORC1 polymorphisms (rs9934438 or rs9923231) and clinical covariates to predict warfarin dose in both African- and European-Americans. A uniform set of common polymorphisms in CYP2C9 and VKORC1, and limited clinical covariates can be used to improve warfarin dose prediction for a racially diverse population.

  15. Explaining the visible and the invisible : ancestry, appearance, race and genetics in Colombia.

    OpenAIRE

    Schwartz-Marin, Ernesto; Wade, Peter

    2015-01-01

    Using data from focus groups conducted in Colombia, we explore how educated lay audiences faced with scenarios about ancestry and genetics, draw on widespread and dominant notions of nation, race and belonging in Colombia to ascribe ancestry to collectivities and to themselves as individuals. People from a life sciences background tend to deploy idioms of race and genetics more readily than people from a humanities and race-critical background. When considering the individual level, people te...

  16. Revised guidelines for the clinical management of Lynch syndrome (HNPCC) : Recommendations by a group of European experts

    NARCIS (Netherlands)

    Vasen, Hans F. A.; Blanco, Ignacio; Aktan-Collan, Katja; Gopie, Jessica P.; Alonso, Angel; Aretz, Stefan; Bernstein, Inge; Bertario, Lucio; Burn, John; Capella, Gabriel; Colas, Chrystelle; Engel, Christoph; Frayling, Ian M.; Genuardi, Maurizio; Heinimann, Karl; Hes, Frederik J.; Hodgson, Shirley V.; Karagiannis, John A.; Lalloo, Fiona; Lindblom, Annika; Mecklin, Jukka-Pekka; Moller, Pal; Myrhoj, Torben; Nagengast, Fokko M.; Parc, Yann; de Leon, Maurizio Ponz; Renkonen-Sinisalo, Laura; Sampson, Julian R.; Stormorken, Astrid; Sijmons, Rolf H.; Tejpar, Sabine; Thomas, Huw J. W.; Rahner, Nils; Wijnen, Juul T.; Jaervinen, Heikki Juhani; Moeslein, Gabriela; Jarvinen, H.J.; Moslein, G.

    Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. In 2007, a group of European experts (the Mallorca group) published guidelines for

  17. Ancestry and BMI Influences on Facial Soft Tissue Depths for A Cohort of Chinese and Caucasoid Women in Dunedin, New Zealand.

    Science.gov (United States)

    Baillie, Louisa J; Mirijali, Seyed Ali; Niven, Brian E; Blyth, Phil; Dias, George J

    2015-09-01

    This study measured and assessed facial soft tissue depths (FSTDs) in adult female Chinese and New Zealand (NZ) Europeans (Caucasoids). Ultrasound was used to obtain depths at nine landmarks on 108 healthy subjects (51 Chinese, 57 NZ European), erect positioned, of same age group (18-29 years). Height and weight were also recorded. Statistical analysis focused on comparison of tissue depth between the two ancestry groups and the influence of Body Mass Index (BMI) (kg/m2). Results showed mean depth differences at Supra M2 and Infra M2 landmarks significantly greater for Chinese than Caucasoid women for all three BMI Classes (BMIancestry and BMI influence on FSTDs to be observed and compared for two distinct groups. Results add to knowledge about facial tissue depth variation. © 2015 American Academy of Forensic Sciences.

  18. Central European Vaccination Advisory Group (CEVAG) guidance statement on recommendations for influenza vaccination in children

    Science.gov (United States)

    2010-01-01

    Background Influenza vaccination in infants and children with existing health complications is current practice in many countries, but healthy children are also susceptible to influenza, sometimes with complications. The under-recognised burden of disease in young children is greater than in elderly populations and the number of paediatric influenza cases reported does not reflect the actual frequency of influenza. Discussion Vaccination of healthy children is not widespread in Europe despite clear demonstration of the benefits of vaccination in reducing the large health and economic burden of influenza. Universal vaccination of infants and children also provides indirect protection in other high-risk groups in the community. This paper contains the Central European Vaccination Advisory Group (CEVAG) guidance statement on recommendations for the vaccination of infants and children against influenza. The aim of CEVAG is to encourage the efficient and safe use of vaccines to prevent and control infectious diseases. Summary CEVAG recommends the introduction of universal influenza vaccination for all children from the age of 6 months. Special attention is needed for children up to 60 months of age as they are at greatest risk. Individual countries should decide on how best to implement this recommendation based on their circumstances. PMID:20546586

  19. Admixture in Latin America: geographic structure, phenotypic diversity and self-perception of ancestry based on 7,342 individuals.

    Directory of Open Access Journals (Sweden)

    Andrés Ruiz-Linares

    2014-09-01

    Full Text Available The current genetic makeup of Latin America has been shaped by a history of extensive admixture between Africans, Europeans and Native Americans, a process taking place within the context of extensive geographic and social stratification. We estimated individual ancestry proportions in a sample of 7,342 subjects ascertained in five countries (Brazil, Chile, Colombia, México and Perú. These individuals were also characterized for a range of physical appearance traits and for self-perception of ancestry. The geographic distribution of admixture proportions in this sample reveals extensive population structure, illustrating the continuing impact of demographic history on the genetic diversity of Latin America. Significant ancestry effects were detected for most phenotypes studied. However, ancestry generally explains only a modest proportion of total phenotypic variation. Genetically estimated and self-perceived ancestry correlate significantly, but certain physical attributes have a strong impact on self-perception and bias self-perception of ancestry relative to genetically estimated ancestry.

  20. Zygomycosis in Europe: analysis of 230 cases accrued by the registry of the European Confederation of Medical Mycology (ECMM) Working Group on Zygomycosis between 2005 and 2007.

    NARCIS (Netherlands)

    Skiada, A.; Pagano, L.; Groll, A.; Zimmerli, S.; Dupont, B.; Lagrou, K.; Lass-Florl, C.; Bouza, E.; Klimko, N.; Gaustad, P.; Richardson, M.; Hamal, P.; Akova, M.; Meis, J.F.G.M.; Rodriguez-Tudela, J.L.; Roilides, E.; Mitrousia-Ziouva, A.; Petrikkos, G.

    2011-01-01

    Zygomycosis is an important emerging fungal infection, associated with high morbidity and mortality. The Working Group on Zygomycosis of the European Confederation of Medical Mycology (ECMM) prospectively collected cases of proven and probable zygomycosis in 13 European countries occurring between

  1. Ancestry Analysis in the 11-M Madrid Bomb Attack Investigation

    Science.gov (United States)

    Phillips, Christopher; Prieto, Lourdes; Fondevila, Manuel; Salas, Antonio; Gómez-Tato, Antonio; Álvarez-Dios, José; Alonso, Antonio; Blanco-Verea, Alejandro; Brión, María; Montesino, Marta; Carracedo, Ángel; Lareu, María Victoria

    2009-01-01

    The 11-M Madrid commuter train bombings of 2004 constituted the second biggest terrorist attack to occur in Europe after Lockerbie, while the subsequent investigation became the most complex and wide-ranging forensic case in Spain. Standard short tandem repeat (STR) profiling of 600 exhibits left certain key incriminatory samples unmatched to any of the apprehended suspects. A judicial order to perform analyses of unmatched samples to differentiate European and North African ancestry became a critical part of the investigation and was instigated to help refine the search for further suspects. Although mitochondrial DNA (mtDNA) and Y-chromosome markers routinely demonstrate informative geographic differentiation, the populations compared in this analysis were known to show a proportion of shared mtDNA and Y haplotypes as a result of recent gene-flow across the western Mediterranean, while any two loci can be unrepresentative of the ancestry of an individual as a whole. We based our principal analysis on a validated 34plex autosomal ancestry-informative-marker single nucleotide polymorphism (AIM-SNP) assay to make an assignment of ancestry for DNA from seven unmatched case samples including a handprint from a bag containing undetonated explosives together with personal items recovered from various locations in Madrid associated with the suspects. To assess marker informativeness before genotyping, we predicted the probable classification success for the 34plex assay with standard error estimators for a naïve Bayesian classifier using Moroccan and Spanish training sets (each n = 48). Once misclassification error was found to be sufficiently low, genotyping yielded seven near-complete profiles (33 of 34 AIM-SNPs) that in four cases gave probabilities providing a clear assignment of ancestry. One of the suspects predicted to be North African by AIM-SNP analysis of DNA from a toothbrush was identified late in the investigation as Algerian in origin. The results

  2. Ancestry analysis in the 11-M Madrid bomb attack investigation.

    Directory of Open Access Journals (Sweden)

    Christopher Phillips

    Full Text Available The 11-M Madrid commuter train bombings of 2004 constituted the second biggest terrorist attack to occur in Europe after Lockerbie, while the subsequent investigation became the most complex and wide-ranging forensic case in Spain. Standard short tandem repeat (STR profiling of 600 exhibits left certain key incriminatory samples unmatched to any of the apprehended suspects. A judicial order to perform analyses of unmatched samples to differentiate European and North African ancestry became a critical part of the investigation and was instigated to help refine the search for further suspects. Although mitochondrial DNA (mtDNA and Y-chromosome markers routinely demonstrate informative geographic differentiation, the populations compared in this analysis were known to show a proportion of shared mtDNA and Y haplotypes as a result of recent gene-flow across the western Mediterranean, while any two loci can be unrepresentative of the ancestry of an individual as a whole. We based our principal analysis on a validated 34plex autosomal ancestry-informative-marker single nucleotide polymorphism (AIM-SNP assay to make an assignment of ancestry for DNA from seven unmatched case samples including a handprint from a bag containing undetonated explosives together with personal items recovered from various locations in Madrid associated with the suspects. To assess marker informativeness before genotyping, we predicted the probable classification success for the 34plex assay with standard error estimators for a naïve Bayesian classifier using Moroccan and Spanish training sets (each n = 48. Once misclassification error was found to be sufficiently low, genotyping yielded seven near-complete profiles (33 of 34 AIM-SNPs that in four cases gave probabilities providing a clear assignment of ancestry. One of the suspects predicted to be North African by AIM-SNP analysis of DNA from a toothbrush was identified late in the investigation as Algerian in origin. The

  3. Ancestry analysis in the 11-M Madrid bomb attack investigation.

    Science.gov (United States)

    Phillips, Christopher; Prieto, Lourdes; Fondevila, Manuel; Salas, Antonio; Gómez-Tato, Antonio; Alvarez-Dios, José; Alonso, Antonio; Blanco-Verea, Alejandro; Brión, María; Montesino, Marta; Carracedo, Angel; Lareu, María Victoria

    2009-08-11

    The 11-M Madrid commuter train bombings of 2004 constituted the second biggest terrorist attack to occur in Europe after Lockerbie, while the subsequent investigation became the most complex and wide-ranging forensic case in Spain. Standard short tandem repeat (STR) profiling of 600 exhibits left certain key incriminatory samples unmatched to any of the apprehended suspects. A judicial order to perform analyses of unmatched samples to differentiate European and North African ancestry became a critical part of the investigation and was instigated to help refine the search for further suspects. Although mitochondrial DNA (mtDNA) and Y-chromosome markers routinely demonstrate informative geographic differentiation, the populations compared in this analysis were known to show a proportion of shared mtDNA and Y haplotypes as a result of recent gene-flow across the western Mediterranean, while any two loci can be unrepresentative of the ancestry of an individual as a whole. We based our principal analysis on a validated 34plex autosomal ancestry-informative-marker single nucleotide polymorphism (AIM-SNP) assay to make an assignment of ancestry for DNA from seven unmatched case samples including a handprint from a bag containing undetonated explosives together with personal items recovered from various locations in Madrid associated with the suspects. To assess marker informativeness before genotyping, we predicted the probable classification success for the 34plex assay with standard error estimators for a naïve Bayesian classifier using Moroccan and Spanish training sets (each n = 48). Once misclassification error was found to be sufficiently low, genotyping yielded seven near-complete profiles (33 of 34 AIM-SNPs) that in four cases gave probabilities providing a clear assignment of ancestry. One of the suspects predicted to be North African by AIM-SNP analysis of DNA from a toothbrush was identified late in the investigation as Algerian in origin. The results achieved

  4. Impact of ancestry categorisations on residential segregation measures using Swedish register data.

    Science.gov (United States)

    Jarvis, Benjamin; Kawalerowicz, Juta; Valdez, Sarah

    2017-07-01

    Country-of-birth data contained in registers are often aggregated to create broad ancestry group categories. We examine how measures of residential segregation vary according to levels of aggregation. We use Swedish register data to calculate pairwise dissimilarity indices from 1990 to 2012 for ancestry groups defined at four nested levels of aggregation: (1) micro-groups containing 50 categories, (2) meso-groups containing 16 categories, (3) macro-groups containing six categories and (4) a broad Western/non-Western binary. We find variation in segregation levels between ancestry groups that is obscured by data aggregation. This study demonstrates that the practice of aggregating country-of-birth statistics in register data can hinder the ability to identify highly segregated groups and therefore design effective policy to remedy both intergroup and intergenerational inequalities.

  5. Report of the Federation of European Laboratory Animal Science Associations Working Group on animal identification.

    Science.gov (United States)

    Dahlborn, K; Bugnon, P; Nevalainen, T; Raspa, M; Verbost, P; Spangenberg, E

    2013-01-01

    The primary aim of this report is to assist scientists in selecting more reliable/suitable identification (ID) methods for their studies. This is especially true for genetically altered (GA) animals where individual identification is strictly necessary to link samples, research design and genotype. The aim of this Federation of European Laboratory Animal Science Associations working group was to provide an update of the methods used to identify rodents in different situations and to assess their implications for animal welfare. ID procedures are an indispensable prerequisite for conducting good science but the degree of invasiveness differs between the different methods; therefore, one needs to make a good ethical evaluation of the method chosen. Based on the scientific literature the advantages and disadvantages of various methods have been presented comprehensively and this report is intended as a practical guide for researchers. New upcoming methods have been included next to the traditional techniques. Ideally, an ID method should provide reliable identification, be technically easy to apply and not inflict adverse effects on animals while taking into account the type of research. There is no gold standard method because each situation is unique; however, more studies are needed to better evaluate ID systems and the desirable introduction of new and modern approaches will need to be assessed by detailed scientific evaluation.

  6. Strong association of socioeconomic status with genetic ancestry in Latinos: implications for admixture studies of type 2 diabetes

    Science.gov (United States)

    Florez, J. C.; Price, A. L.; Campbell, D.; Riba, L.; Parra, M. V.; Yu, F.; Duque, C.; Saxena, R.; Gallego, N.; Tello-Ruiz, M.; Franco, L.; Rodríguez-Torres, M.; Villegas, A.; Bedoya, G.; Aguilar-Salinas, C. A.; Tusié-Luna, M. T.; Ruiz-Linares, A.; Reich, D.

    2011-01-01

    Aims/hypothesis Type 2 diabetes is more prevalent in US American minority populations of African or Native American descent than it is in European Americans. However, the proportion of this epidemiological difference that can be ascribed to genetic or environmental factors is unknown. To determine whether genetic ancestry is correlated with diabetes risk in Latinos, we estimated the proportion of European ancestry in case-control samples from Mexico and Colombia in whom socioeconomic status had been carefully ascertained. Methods We genotyped 67 ancestry-informative markers in 499 participants with type 2 diabetes and 197 controls from Medellín (Colombia), as well as in 163 participants with type 2 diabetes and 72 controls from central Mexico. Each participant was assigned a socioeconomic status scale via various measures. Results Although European ancestry was associated with lower diabetes risk in Mexicans (OR [95% CI] 0.06 [0.02–0.21], p=2.0 × 10−5) and Colombians (OR 0.26 [0.08–0.78], p=0.02), adjustment for socioeconomic status eliminated the association in the Colombian sample (OR 0.64 [0.19–2.12], p=0.46) and significantly attenuated it in the Mexican sample (OR 0.17 [0.04–0.71], p=0.02). Adjustment for BMI did not change the results. Conclusions/interpretation The proportion of non-European ancestry is associated with both type 2 diabetes and lower socioeconomic status in admixed Latino populations from North and South America. We conclude that ancestry-directed search for genetic markers associated with type 2 diabetes in Latinos may benefit from information involving social factors, as these factors have a quantitatively important effect on type 2 diabetes risk relative to ancestry effects. PMID:19526211

  7. Revisiting the genetic ancestry of Brazilians using autosomal AIM-Indels.

    Directory of Open Access Journals (Sweden)

    Fernanda Saloum de Neves Manta

    Full Text Available There are many different studies that contribute to the global picture of the ethnic heterogeneity in Brazilian populations. These studies use different types of genetic markers and are focused on the comparison of populations at different levels. In some of them, each geographical region is treated as a single homogeneous population, whereas other studies create different subdivisions: political (e.g., pooling populations by State, demographic (e.g., urban and rural, or ethnic (e.g., culture, self-declaration, or skin colour. In this study, we performed an enhanced reassessment of the genetic ancestry of ~ 1,300 Brazilians characterised for 46 autosomal Ancestry Informative Markers (AIMs. In addition, 798 individuals from twelve Brazilian populations representing the five geographical macro-regions of Brazil were newly genotyped, including a Native American community and a rural Amazonian community. Following an increasing North to South gradient, European ancestry was the most prevalent in all urban populations (with values up to 74%. The populations in the North consisted of a significant proportion of Native American ancestry that was about two times higher than the African contribution. Conversely, in the Northeast, Center-West and Southeast, African ancestry was the second most prevalent. At an intrapopulation level, all urban populations were highly admixed, and most of the variation in ancestry proportions was observed between individuals within each population rather than among population. Nevertheless, individuals with a high proportion of Native American ancestry are only found in the samples from Terena and Santa Isabel. Our results allowed us to further refine the genetic landscape of Brazilians while establishing the basis for the effective application of an autosomal AIM panel in forensic casework and clinical association studies within the highly admixed Brazilian populations.

  8. Revisiting the Genetic Ancestry of Brazilians Using Autosomal AIM-Indels

    Science.gov (United States)

    Saloum de Neves Manta, Fernanda; Pereira, Rui; Vianna, Romulo; Rodolfo Beuttenmüller de Araújo, Alfredo; Leite Góes Gitaí, Daniel; Aparecida da Silva, Dayse; de Vargas Wolfgramm, Eldamária; da Mota Pontes, Isabel; Ivan Aguiar, José; Ozório Moraes, Milton; Fagundes de Carvalho, Elizeu; Gusmão, Leonor

    2013-01-01

    There are many different studies that contribute to the global picture of the ethnic heterogeneity in Brazilian populations. These studies use different types of genetic markers and are focused on the comparison of populations at different levels. In some of them, each geographical region is treated as a single homogeneous population, whereas other studies create different subdivisions: political (e.g., pooling populations by State), demographic (e.g., urban and rural), or ethnic (e.g., culture, self-declaration, or skin colour). In this study, we performed an enhanced reassessment of the genetic ancestry of ~ 1,300 Brazilians characterised for 46 autosomal Ancestry Informative Markers (AIMs). In addition, 798 individuals from twelve Brazilian populations representing the five geographical macro-regions of Brazil were newly genotyped, including a Native American community and a rural Amazonian community. Following an increasing North to South gradient, European ancestry was the most prevalent in all urban populations (with values up to 74%). The populations in the North consisted of a significant proportion of Native American ancestry that was about two times higher than the African contribution. Conversely, in the Northeast, Center-West and Southeast, African ancestry was the second most prevalent. At an intrapopulation level, all urban populations were highly admixed, and most of the variation in ancestry proportions was observed between individuals within each population rather than among population. Nevertheless, individuals with a high proportion of Native American ancestry are only found in the samples from Terena and Santa Isabel. Our results allowed us to further refine the genetic landscape of Brazilians while establishing the basis for the effective application of an autosomal AIM panel in forensic casework and clinical association studies within the highly admixed Brazilian populations. PMID:24073242

  9. Frequency ofTNFA,INFG, andIL10Gene Polymorphisms and Their Association with MalariaVivaxand Genomic Ancestry.

    Science.gov (United States)

    Furini, Adriana Antônia da Cruz; Cassiano, Gustavo Capatti; Petrolini Capobianco, Marcela; Dos Santos, Sidney Emanuel Batista; Dantas Machado, Ricardo Luiz

    2016-01-01

    Polymorphisms in cytokine genes can alter the production of these proteins and consequently affect the immune response. The trihybrid heterogeneity of the Brazilian population is characterized as a condition for the use of ancestry informative markers. The objective of this study was to evaluate the frequency of - 1031T>C , -308G>A and -238G>A TNFA , +874 A>T IFNG and - 819C>T, and -592C>A IL10 gene polymorphisms and their association with malaria vivax and genomic ancestry. Samples from 90 vivax malaria-infected individuals and 51 noninfected individuals from northern Brazil were evaluated. Genotyping was carried out by using ASO-PCR or PCR/RFLP. The genomic ancestry of the individuals was classified using 48 insertion/deletion polymorphism biallelic markers. There were no differences in the proportions of African, European, and Native American ancestry between men and women. No significant association was observed for the allele and genotype frequencies of the 6 SNPs between malaria-infected and noninfected individuals. However, there was a trend toward decreasing the frequency of individuals carrying the TNF-308A allele with the increasing proportion of European ancestry. No ethnic-specific SNPs were identified, and there was no allelic or genotype association with susceptibility or resistance to vivax malaria. Understanding the genomic mechanisms by which ancestry influences this association is critical and requires further study.

  10. Frequency of TNFA, INFG, and IL10 Gene Polymorphisms and Their Association with Malaria Vivax and Genomic Ancestry

    Directory of Open Access Journals (Sweden)

    Adriana Antônia da Cruz Furini

    2016-01-01

    Full Text Available Polymorphisms in cytokine genes can alter the production of these proteins and consequently affect the immune response. The trihybrid heterogeneity of the Brazilian population is characterized as a condition for the use of ancestry informative markers. The objective of this study was to evaluate the frequency of -1031T>C, -308G>A and -238G>A TNFA, +874 A>T IFNG and -819C>T, and -592C>A IL10 gene polymorphisms and their association with malaria vivax and genomic ancestry. Samples from 90 vivax malaria-infected individuals and 51 noninfected individuals from northern Brazil were evaluated. Genotyping was carried out by using ASO-PCR or PCR/RFLP. The genomic ancestry of the individuals was classified using 48 insertion/deletion polymorphism biallelic markers. There were no differences in the proportions of African, European, and Native American ancestry between men and women. No significant association was observed for the allele and genotype frequencies of the 6 SNPs between malaria-infected and noninfected individuals. However, there was a trend toward decreasing the frequency of individuals carrying the TNF-308A allele with the increasing proportion of European ancestry. No ethnic-specific SNPs were identified, and there was no allelic or genotype association with susceptibility or resistance to vivax malaria. Understanding the genomic mechanisms by which ancestry influences this association is critical and requires further study.

  11. Typing of 111 ancestry informative markers in an Albanian population

    DEFF Research Database (Denmark)

    Ribeiro, Joana; Pereira, V.; Kondili, A.

    2015-01-01

    script in the software R.The results were compared to other population samples previously typed for the same markers. The panel of AIMs was capable of differentiating the Albanian population from other population groups except for the Greek population. These results were expected due to the history......Genetically based prediction of ancestry has a great potential in forensic genetics and may be used as an investigative lead in crime case work or missing person identification.The EUROFORGEN-NoE consortium developed four PCR and SBE multiplexes for typing of 111 ancestry informative markers (AIMs......) with the purpose of differentiating Middle Eastern populations from those of the rest of the world (publication in preparation). Before these multiplexes can be applied in forensic case work, population data for these markers are needed.In this work, samples from 51 Albanian individuals were typed with the AIMs...

  12. European consensus conference on diagnosis and treatment of germ cell cancer: a report of the second meeting of the European Germ Cell Cancer Consensus Group (EGCCCG): part II

    DEFF Research Database (Denmark)

    Krege, Susanne; Beyer, Jörg; Souchon, Rainer

    2007-01-01

    OBJECTIVES: The first consensus report that had been presented by the European Germ Cell Cancer Consensus Group (EGCCCG) in 2004 has found widespread approval by many colleagues throughout the world. In November 2006, the group met a second time under the auspices of the Department of Urology...... trials. Despite technical improvements, expert clinical skills will continue to be one of the major determinants for the prognosis of patients with germ cell cancer. In addition, the particular needs of testicular cancer survivors have been acknowledged Udgivelsesdato: 2008/3...

  13. Hypoalphalipoproteinemia in populations of Native American ancestry: an opportunity to assess the interaction of genes and the environment.

    Science.gov (United States)

    Aguilar-Salinas, Carlos A; Canizales-Quinteros, Samuel; Rojas-Martínez, Rosalba; Mehta, Roopa; Villarreal-Molina, Ma Teresa; Arellano-Campos, Olimpia; Riba, Laura; Gómez-Pérez, Francisco J; Tusié-Luna, Ma Teresa

    2009-04-01

    Our aim is to review the environmental and genetic factors associated with hypoalphalipoproteinemia in populations of Native American ancestry. We examine the strength of the association and outline the population-specific genetic factors that lead to a higher susceptibilty for this condition. Low HDL is the most common lipid abnormality in populations of Native American ancestry. Population-based surveys carried out in Latin America and in Mexican Americans shows that 40-60% of adults have hypoalphalipoproteinemia. The contribution of this trait to the metabolic syndrome is greater in individuals with Native American ancestry than in other ethnic groups. Several environmental factors have contributed to this phenomenon (i.e. high dietary content of carbohydrates and fat due to cultural factors and a growing incidence of obesity). In addition, results from recent genetic studies show that certain hypoalphalipoproteinemia susceptibility alleles are ethnic specific for Native Americans. The variant R230C of the ATP-binding cassette transporter subfamily A member 1 gene (ABC-A1) is common among mestizos (10.9% in Mexican mestizos) and its presence has a significant negative effect on HDL cholesterol levels (-4.2%). An additional noteworthy finding is that the R230C variant appears to be specific for the Amerindian populations. Its allele frequency is 0.28 in Mayans, 0.214 in Purepechas, 0.203 in Yaquis and 0.179 among Teenek. In contrast, the C230 allele has not been found in African, European, Chinese or South Asian populations. The assessment of the genetic and environmental determinants of hypoalphalipoproteinemia in populations of Native American origin provides an opportunity to assess the population-specific interactions between genes and the environment

  14. Anthropologists' views on race, ancestry, and genetics

    OpenAIRE

    Wagner, Jennifer K.; Yu, Joon?Ho; Ifekwunigwe, Jayne O.; Harrell, Tanya M.; Bamshad, Michael J.; Royal, Charmaine D.

    2016-01-01

    Abstract Controversies over race conceptualizations have been ongoing for centuries and have been shaped, in part, by anthropologists. Objective To assess anthropologists' views on race, genetics, and ancestry. Methods In 2012 a broad national survey of anthropologists examined prevailing views on race, ancestry, and genetics. Results Results demonstrate consensus that there are no human biological races and recognition that race exists as lived social experiences that can have important effe...

  15. Characterizing Genetic Susceptibility to Breast Cancer in Women of African Ancestry.

    Science.gov (United States)

    Feng, Ye; Rhie, Suhn Kyong; Huo, Dezheng; Ruiz-Narvaez, Edward A; Haddad, Stephen A; Ambrosone, Christine B; John, Esther M; Bernstein, Leslie; Zheng, Wei; Hu, Jennifer J; Ziegler, Regina G; Nyante, Sarah; Bandera, Elisa V; Ingles, Sue A; Press, Michael F; Deming, Sandra L; Rodriguez-Gil, Jorge L; Zheng, Yonglan; Yao, Song; Han, Yoo-Jeong; Ogundiran, Temidayo O; Rebbeck, Timothy R; Adebamowo, Clement; Ojengbede, Oladosu; Falusi, Adeyinka G; Hennis, Anselm; Nemesure, Barbara; Ambs, Stefan; Blot, William; Cai, Qiuyin; Signorello, Lisa; Nathanson, Katherine L; Lunetta, Kathryn L; Sucheston-Campbell, Lara E; Bensen, Jeannette T; Chanock, Stephen J; Marchand, Loic Le; Olshan, Andrew F; Kolonel, Laurence N; Conti, David V; Coetzee, Gerhard A; Stram, Daniel O; Olopade, Olufunmilayo I; Palmer, Julie R; Haiman, Christopher A

    2017-07-01

    Background: Genome-wide association studies have identified approximately 100 common genetic variants associated with breast cancer risk, the majority of which were discovered in women of European ancestry. Because of different patterns of linkage disequilibrium, many of these genetic markers may not represent signals in populations of African ancestry. Methods: We tested 74 breast cancer risk variants and conducted fine-mapping of these susceptibility regions in 6,522 breast cancer cases and 7,643 controls of African ancestry from three genetic consortia (AABC, AMBER, and ROOT). Results: Fifty-four of the 74 variants (73%) were found to have ORs that were directionally consistent with those previously reported, of which 12 were nominally statistically significant ( P women of African ancestry. Impact: The risk alleles identified represent genetic markers for modeling and stratifying breast cancer risk in women of African ancestry. Cancer Epidemiol Biomarkers Prev; 26(7); 1016-26. ©2017 AACR . ©2017 American Association for Cancer Research.

  16. Linkage of type I interferon activity and TNF-alpha levels in serum with sarcoidosis manifestations and ancestry.

    Directory of Open Access Journals (Sweden)

    Nadera J Sweiss

    Full Text Available BACKGROUND: Both type I interferon (IFN, also known as IFN-α and tumor necrosis factor alpha (TNF-α have been implicated in the pathogenesis of sarcoidosis. We investigated serum levels of these cytokines in a large multi-ancestral sarcoidosis population to determine correlations between cytokine levels and disease phenotypes. METHODS: We studied serum samples from 98 patients with sarcoidosis, including 71 patients of African-American ancestry and 27 patients of European-American ancestry. Serum type I IFN was measured using a sensitive reporter cell assay and serum TNF-α was measured using a commercial ELISA kit. Clinical data including presence or absence of neurologic, cardiac, and severe pulmonary manifestations of sarcoidosis were abstracted from medical records. Twenty age-matched non-autoimmune controls were also studied from each ancestral background. Differences in cytokine levels between groups were analyzed with Mann-Whitney U test, and correlations were assessed using Spearman's rho. Multivariate logistic regression models were used to detect associations between cytokines and clinical manifestations. RESULTS: Significant differences in cytokine levels were observed between African- and European-American patients with sarcoidosis. In African-Americans, serum TNF-α levels were significantly higher relative to matched controls (P = 0.039, and patients with neurologic disease had significantly higher TNF-α than patients lacking this manifestation (P = 0.022. In European-Americans, serum type I IFN activity was higher in sarcoidosis cases as compared to matched controls, and patients with extra-pulmonary disease represented a high serum IFN subgroup (P = 0.0032. None of the associations observed were shared between the two ancestral groups. CONCLUSIONS: Our data indicate that significant associations between serum levels of TNF-α and type I IFN and clinical manifestations exist in a sarcoidosis cohort that differ

  17. Ancestry informative markers and selected single nucleotide polymorphisms in immunoregulatory genes on preterm labor and preterm premature rupture of membranes: a case control study.

    Science.gov (United States)

    Ramos, Bruna Ribeiro de Andrade; Mendes, Niele Dias; Tanikawa, Aline Aki; Amador, Marcos Antônio Trindade; dos Santos, Ney Pereira Carneiro; dos Santos, Sidney Emanuel Batista; Castelli, Erick C; Witkin, Steven S; da Silva, Márcia Guimarães

    2016-02-05

    A genetic predisposition to Preterm Labor (PTL) and Preterm Premature Rupture of Membranes (PPROM) has been suggested; however the relevance of polymorphisms and ancestry to susceptibility to PTL and PPROM in different populations remains unclear. The aim of this study was to evaluate the contribution of maternal and fetal SNPs in the IL1B, IL6, IL6R, TNFA, TNFR, IL10, TLR2, TLR4, MMP9, TIMP1 and TIMP2 genes and the influence of ancestry background in the susceptibility to PTL or PPROM in Brazilian women. Case-control study conducted at a tertiary hospital in São Paulo State, Brazil. We included women with PTL or PPROM and their babies (PTL: 136 women and 88 babies; PPROM: 65 women and 44 babies). Control group included 402 mother-babies pairs of term deliveries. Oral swabs were collected for identification of AIMs by fragment analysis and SNPs by Taqman® SNP Genotyping Assays and PCR. Linkage Disequilibrium and Hardy-Weinberg proportions were evaluated using Genepop 3.4. Haplotypes were inferred using the PHASE algorithm. Allele, genotype and haplotype frequencies were compared by Fisher's exact test or χ (2) and Odds Ratio. Logistic regression was performed. Clinical and sociodemographic data were analyzed by Fisher's exact test and Mann-Whitney. PTL was associated with European ancestry and smoking while African ancestry was protective. The fetal alleles IL10-592C (rs800872) and IL10-819C (rs1800871) were also associated with PTL and the maternal haplotype TNFA-308G-238A was protective. Maternal presence of IL10-1082G (rs1800896) and TLR2A (rs4696480) alleles increased the risk for PPROM while TNFA-238A (rs361525) was protective. Family history of PTL/PPROM was higher in cases, and time to delivery was influenced by IL1B-31T (rs1143627) and TLR4-299G (rs4986790). There is an association between European ancestry and smoking and PTL in our Brazilian population sample. The presence of maternal or fetal alleles that modify the inflammatory response increase the

  18. African Ancestry is a Risk Factor for Asthma and High Total IgE Levels in African Admixed Populations

    Science.gov (United States)

    Vergara, Candelaria; Murray, Tanda; Rafaels, Nicholas; Lewis, Rachel; Campbell, Monica; Foster, Cassandra; Gao, Li; Faruque, Mezbah; Oliveira, Ricardo Riccio; Carvalho, Edgar; Araujo, Maria Ilma; Cruz, Alvaro A.; Watson, Harold; Mercado, Dilia; Knight-Madden, Jennifer; Ruczinski, Ingo; Dunston, Georgia; Ford, Jean; Caraballo, Luis; Beaty, Terri H.; Mathias, Rasika A.; Barnes, Kathleen C.

    2014-01-01

    Characterization of genetic admixture of populations in the Americas and the Caribbean is of interest for anthropological, epidemiological, and historical reasons. Asthma has a higher prevalence and is more severe in populations with a high African component. Association of African ancestry with asthma has been demonstrated. We estimated admixture proportions of samples from six trihybrid populations of African descent and determined the relationship between African ancestry and asthma and total serum IgE levels (tIgE). We genotyped 237 ancestry informative markers in asthmatics and nonasthmatic controls from Barbados (190/277), Jamaica (177/529), Brazil (40/220), Colombia (508/625), African Americans from New York (207/171), and African Americans from Baltimore/Washington, D.C. (625/757). We estimated individual ancestries and evaluated genetic stratification using Structure and principal component analysis. Association of African ancestry and asthma and tIgE was evaluated by regression analysis. Mean SD African ancestry ranged from 0.76 ± 0.10 among Barbadians to 0.33 ± 0.13 in Colombians. The European component varied from 0.14 ± 0.05 among Jamaicans and Barbadians to 0.26 ± 0.08 among Colombians. African ancestry was associated with risk for asthma in Colombians (odds ratio (OR) = 4.5, P = 0.001) Brazilians (OR = 136.5, P = 0.003), and African Americans of New York (OR: 4.7; P = 0.040). African ancestry was also associated with higher tIgE levels among Colombians (β = 1.3, P = 0.04), Barbadians (β = 3.8, P = 0.03), and Brazilians (β = 1.6, P = 0.03). Our findings indicate that African ancestry can account for, at least in part, the association between asthma and its associated trait, tIgE levels. PMID:23554133

  19. Clinical features of dysthyroid optic neuropathy: a European Group on Graves' Orbitopathy (EUGOGO) survey

    NARCIS (Netherlands)

    McKeag, David; Lane, Carol; Lazarus, John H.; Baldeschi, Lelio; Boboridis, Kostas; Dickinson, A. Jane; Hullo, A. Iain; Kahaly, George; Krassas, Gerry; Marcocci, Claudio; Marinò, Michele; Mourits, Maarten P.; Nardi, Marco; Neoh, Christopher; Orgiazzi, Jacques; Perros, Petros; Pinchera, Aldo; Pitz, Susanne; Prummel, Mark F.; Sartini, Maria S.; Wiersinga, Wilmar M.

    2007-01-01

    BACKGROUND: This study was performed to determine clinical features of dysthyroid optic neuropathy (DON) across Europe. METHODS: Forty seven patients with DON presented to seven European centres during one year. Local protocols for thyroid status, ophthalmic examination and further investigation

  20. European Group for Atomic Spectroscopy. Summaries of contributions, eleventh annual conference, Paris-Orsay, July 10-13, 1979

    Energy Technology Data Exchange (ETDEWEB)

    1979-07-01

    Summaries are presented of talks given at the eleventh conference of the European group for atomic spectroscopy. Topics covered include: lifetimes; collisions; line shape; hyperfine structure; isotope shifts; saturation spectroscopy; Hanle effect; Rydberg levels; quantum beats; helium and helium-like atoms; metrology; and molecules. (GHT)

  1. New Zealand = Maori, New Zealand = Bicultural: Ethnic Group Differences in a National Sample of Maori and Europeans

    Science.gov (United States)

    Harding, Jessica F.; Sibley, Chris G.; Robertson, Andrew

    2011-01-01

    New Zealand (NZ) Europeans show a unique implicit bicultural effect, with research using the Implicit Association Test consistently showing that they associate Maori (the Indigenous peoples) and their own (dominant/advantaged majority) group as equally representative of the nation. We replicated and extended this NZ = bicultural effect in a small…

  2. The Influence of the Family, the School, and the Group on the Environmental Attitudes of European Students

    Science.gov (United States)

    Duarte, Rosa; Escario, José-Julián; Sanagustín, María-Victoria

    2017-01-01

    The attitudes of young people arise from an intense interaction with their social groups of reference, and in this work we examine the extent to which this background conditions the individual environmental attitudes of the young. Using data provided by the PISA 2006 survey for the European Union, we test for the influence of the family, the…

  3. Southernmost evidence of large European Ice Sheet-derived freshwater discharges during the Heinrich Stadials of the Last Glacial Period (Galician Interior Basin, Northwest Iberian Continental Margin)

    Science.gov (United States)

    Plaza-Morlote, M.; Rey, D.; Santos, J. F.; Ribeiro, S.; Heslop, D.; Bernabeu, A.; Mohamed, K. J.; Rubio, B.; Martíns, V.

    2017-01-01

    Reconstruction of circum-Atlantic ice-sheet motion and instabilities is crucial to understanding the mechanisms that triggered and/or enhanced abrupt climate changes. Using enviromagnetic and geochemical data, we provide a continuous and well-dated record of the evolution of glacial/interglacial sedimentation on the Northwest Iberian Margin during the last glacial period, covering the last six Heinrich Stadials. The record shows European sediments that were related to meltwater pre-events during the initial stages of HS1, HS2, and HS4 that corroborate the Channel River depositional history. The record also includes IRD from the Laurentide Ice Sheet and the European Ice Sheet during the final stages of these stadials, i.e., Heinrich Events. Therefore, this study provides insight into one of the potential forcing mechanisms for Heinrich Events and, by inference, for Heinrich Stadials.

  4. Pheochromocytoma in multiple endocrine neoplasia type 2: European study. The Euromen Study Group.

    Science.gov (United States)

    Modigliani, E; Vasen, H M; Raue, K; Dralle, H; Frilling, A; Gheri, R G; Brandi, M L; Limbert, E; Niederle, B; Forgas, L

    1995-10-01

    Pheochromocytoma (pheo) is the second component of the multiple endocrine neoplasia type 2 (MEN 2) syndrome. Clinical expression is sometimes poor, and chronology between medullary thyroid carcinoma (MTC) and pheo is not well evaluated. Therefore, a retrospective study was done in eight European countries in order to precise the main characteristics of pheo in MEN 2. Data from 300 MEN 2 patients with pheo (274 MEN 2 A and 26 MEN 2 B) were obtained from cases registered by the EuroMen study group, and collected by a medical standardized questionnaire. These cases occurred between 1969 and 1992. Mean age at diagnosis of pheo was 39.5 years (range 14-68 years) in MEN 2A and 32.4 years (range 15-41 years) in MEN 2B patients. Pheo occurred first in 25.1% of the cases (2-15 years before diagnosis of MTC) and after MTC in 40.2% (2-11 years). In other cases (34.7%), MTC and pheo were diagnosed at the same time. Involvement was bilateral in 67.8% of cases. Malignancy was only 4%. Thirty-nine deaths occurred in these 300 patients, 64.1% were linked in pheo, 23.1% to MTC and 12.8% to other causes. Surgery was unilateral in 39.7% of the cases and bilateral adrenalectomy was the first procedure in 48.4%. A bilateral adrenalectomy in two steps had to be done in 11.9% of cases. In conclusion, these results justify systematic and prolonged biochemical screening of pheo during follow-up of MTC and address some questions about the best mode of surgery.

  5. Factors associated with quality of services for marginalized groups with mental health problems in 14 European countries

    OpenAIRE

    Costa, Diogo; Matanov, Aleksandra; Canavan, Reamonn; Gabor, Edina; Greacen, Tim; Vondráčková, Petra; Kluge, Ulrike; Nicaise, Pablo; Moskalewicz, Jacek; Díaz–Olalla, José Manuel; Straßmayr, Christa; Kikkert, Martijn; Soares, Joaquim JF; Gaddini, Andrea; Barros, Henrique

    2014-01-01

    Background: Different service characteristics are known to influence mental health care delivery. Much less is known about the impact of contextual factors, such as the socioeconomic circumstances, on the provision of care to socially marginalized groups. The objectives of this work were to assess the organisational characteristics of services providing mental health care for marginalized groups in 14 European capital cities and to explore the associations between organisational quality, serv...

  6. African genetic ancestry interacts with body mass index to modify risk for uterine fibroids.

    Directory of Open Access Journals (Sweden)

    Ayush Giri

    2017-07-01

    Full Text Available Race, specifically African ancestry, and obesity are important risk factors for uterine fibroids, and likely interact to provide the right conditions for fibroid growth. However, existing studies largely focus on the main-effects rather than their interaction. Here, we firstly provide evidence for interaction between categories of body mass index (BMI and reported-race in relation to uterine fibroids. We then investigate whether the association between inferred local European ancestry and fibroid risk is modified by BMI in African American (AA women in the Vanderbilt University Medical Center bio-repository (BioVU (539 cases and 794 controls and the Coronary Artery Risk Development in Young Adults study (CARDIA, 264 cases and 173 controls. We used multiple logistic regression to evaluate interactions between local European ancestry and BMI in relation to fibroid risk, then performed fixed effects meta-analysis. Statistical significance threshold for local-ancestry and BMI interactions was empirically estimated with 10,000 permutations (p-value = 1.18x10-4. Admixture mapping detected an association between European ancestry and fibroid risk which was modified by BMI (continuous-interaction p-value = 3.75x10-5 around ADTRP (chromosome 6p24; the strongest association was found in the obese category (ancestry odds ratio (AOR = 0.51, p-value = 2.23x10-5. Evaluation of interaction between genotyped/imputed variants and BMI in this targeted region suggested race-specific interaction, present in AAs only; strongest evidence was found for insertion/deletion variant (6:11946435, again in the obese category (OR = 1.66, p-value = 1.72x10-6. We found nominal evidence for interaction between local ancestry and BMI at a previously reported region in chromosome 2q31-32, which includes COL5A2, and TFPI, an immediate downstream target of ADTRP. Interactions between BMI and SNPs (single nucleotide polymorphisms found in this region in AA women were also detected

  7. African genetic ancestry interacts with body mass index to modify risk for uterine fibroids.

    Science.gov (United States)

    Giri, Ayush; Edwards, Todd L; Hartmann, Katherine E; Torstenson, Eric S; Wellons, Melissa; Schreiner, Pamela J; Velez Edwards, Digna R

    2017-07-01

    Race, specifically African ancestry, and obesity are important risk factors for uterine fibroids, and likely interact to provide the right conditions for fibroid growth. However, existing studies largely focus on the main-effects rather than their interaction. Here, we firstly provide evidence for interaction between categories of body mass index (BMI) and reported-race in relation to uterine fibroids. We then investigate whether the association between inferred local European ancestry and fibroid risk is modified by BMI in African American (AA) women in the Vanderbilt University Medical Center bio-repository (BioVU) (539 cases and 794 controls) and the Coronary Artery Risk Development in Young Adults study (CARDIA, 264 cases and 173 controls). We used multiple logistic regression to evaluate interactions between local European ancestry and BMI in relation to fibroid risk, then performed fixed effects meta-analysis. Statistical significance threshold for local-ancestry and BMI interactions was empirically estimated with 10,000 permutations (p-value = 1.18x10-4). Admixture mapping detected an association between European ancestry and fibroid risk which was modified by BMI (continuous-interaction p-value = 3.75x10-5) around ADTRP (chromosome 6p24); the strongest association was found in the obese category (ancestry odds ratio (AOR) = 0.51, p-value = 2.23x10-5). Evaluation of interaction between genotyped/imputed variants and BMI in this targeted region suggested race-specific interaction, present in AAs only; strongest evidence was found for insertion/deletion variant (6:11946435), again in the obese category (OR = 1.66, p-value = 1.72x10-6). We found nominal evidence for interaction between local ancestry and BMI at a previously reported region in chromosome 2q31-32, which includes COL5A2, and TFPI, an immediate downstream target of ADTRP. Interactions between BMI and SNPs (single nucleotide polymorphisms) found in this region in AA women were also detected in an

  8. Correlates of bone mineral density among postmenopausal women of African Caribbean ancestry: Tobago women's health study.

    Science.gov (United States)

    Hill, Deanna D; Cauley, Jane A; Bunker, Clareann H; Baker, Carol E; Patrick, Alan L; Beckles, Gloria L A; Wheeler, Victor W; Zmuda, Joseph M

    2008-07-01

    Population dynamics predict a drastic growth in the number of older minority women, and resultant increases in the number of fractures. Low bone mineral density (BMD) is an important risk factor for fracture. Many studies have identified the lifestyle and health-related factors that correlate with BMD in Whites. Few studies have focused on non-Whites. The objective of the current analyses is to examine the lifestyle, anthropometric and health-related factors that are correlated with BMD in a population based cohort of Caribbean women of West African ancestry. We enrolled 340 postmenopausal women residing on the Caribbean Island of Tobago. Participants completed a questionnaire and had anthropometric measures taken. Hip BMD was measured by DXA. We estimated volumetric BMD by calculating bone mineral apparent density (BMAD). BMD was >10% and >25% higher across all age groups in Tobagonian women compared to US non-Hispanic Black and White women, respectively. In multiple linear regression models, 35-36% of the variability in femoral neck and total hip BMD respectively was predicted. Each 16-kg (one standard deviation (SD)) increase in weight was associated with 5% higher BMD; and weight explained over 10% of the variability of BMD. Each 8-year (1 SD) increase in age was associated with 5% lower BMD. Current use of both thiazide diuretics and oral hypoglycemic medication were associated with 4-5% higher BMD. For femoral neck BMAD, 26% of the variability was explained by a multiple linear regression model. Current statin use was associated with 5% higher BMAD and a history of breast feeding or coronary heart disease was associated with 1-1.5% of higher BMAD. In conclusion, African Caribbean women have the highest BMD on a population level reported to date for women. This may reflect low European admixture. Correlates of BMD among Caribbean women of West African ancestry were similar to those reported for U.S. Black and White women.

  9. Links between the recruitment success of northern European hake (Merluccius merluccius L.) and a regime shift on the NE Atlantic continental shelf

    KAUST Repository

    Goikoetxea, Nerea

    2013-07-01

    The distribution of northern European hake (Merluccius merluccius L.) extends from the Bay of Biscay up to Norwegian waters. However, despite its wide geographical distribution, there have been few studies on fluctuations in the European hake populations. Marine ecosystem shifts have been investigated worldwide and their influence on trophic levels has been studied, from top predator fish populations down to planktonic prey species, but there is little information on the effect of atmosphere-ocean shifts on European hake. This work analyses hake recruitment success (recruits per adult biomass) in relation to environmental changes over the period 1978-2006 in order to determine whether the regime shift identified in several abiotic and biotic variables in the North Sea also affected the Northeast Atlantic shelf oceanography. Hake recruitment success as well as parameters such as the sea surface temperature, wind patterns and copepod abundance changed significantly at the end of the 1980s, demonstrating an ecological regime shift in the Northeast Atlantic. Despite the low reproductive biomass recorded during the last decades, hake recruitment success has been higher since the change in 1989/90. The higher productivity may have sustained the population despite the intense fishing pressure; copepod abundance, warmer water temperatures and moderate eastward transport were found to be beneficial. In conclusion, in 1988/89 the Northeast Atlantic environment shifted to a favourable regime for northern hake production. This study supports the hypothesis that the hydro-climatic regime shift that affected the North Sea in the late 1980s may have influenced a wider region, such as the Northeast Atlantic. © 2013 John Wiley & Sons Ltd.

  10. Where does supranationalism come from? Ideas floating through the working groups of the Council of the European Union

    Directory of Open Access Journals (Sweden)

    Jan Beyers

    1998-11-01

    Full Text Available The central purpose of the paper is to explain why some officials involved in Council working groups have a more positive disposition towards European integration than others. The paper is inspired by the fact that many studies on European integration deal only occasionally with the attitudes and the ideas of the men and the women involved in daily negotiations. Consequently most studies employ member-states or European institutions (e.g. the Council, the Commission and the European Parliament as central units of analysis and the description of European policy-making is therefore often based on a limited number of observations (small-N-analysis. In this paper we propose to desaggregate the Council in multiple observations, the officials involved in day-to-day proceedings. In doing so we hope to obtain a more profound understanding of the Council negotiator's attitudes. This systematic empirical analysis leads to the conclusion that the interaction between domestic and transgovernemental experiences explains a signification proportion of the variance along the supranational-intergovernmental continuum.

  11. Massive migration from the steppe was a source for Indo-European languages in Europe.

    Science.gov (United States)

    Haak, Wolfgang; Lazaridis, Iosif; Patterson, Nick; Rohland, Nadin; Mallick, Swapan; Llamas, Bastien; Brandt, Guido; Nordenfelt, Susanne; Harney, Eadaoin; Stewardson, Kristin; Fu, Qiaomei; Mittnik, Alissa; Bánffy, Eszter; Economou, Christos; Francken, Michael; Friederich, Susanne; Pena, Rafael Garrido; Hallgren, Fredrik; Khartanovich, Valery; Khokhlov, Aleksandr; Kunst, Michael; Kuznetsov, Pavel; Meller, Harald; Mochalov, Oleg; Moiseyev, Vayacheslav; Nicklisch, Nicole; Pichler, Sandra L; Risch, Roberto; Rojo Guerra, Manuel A; Roth, Christina; Szécsényi-Nagy, Anna; Wahl, Joachim; Meyer, Matthias; Krause, Johannes; Brown, Dorcas; Anthony, David; Cooper, Alan; Alt, Kurt Werner; Reich, David

    2015-06-11

    We generated genome-wide data from 69 Europeans who lived between 8,000-3,000 years ago by enriching ancient DNA libraries for a target set of almost 400,000 polymorphisms. Enrichment of these positions decreases the sequencing required for genome-wide ancient DNA analysis by a median of around 250-fold, allowing us to study an order of magnitude more individuals than previous studies and to obtain new insights about the past. We show that the populations of Western and Far Eastern Europe followed opposite trajectories between 8,000-5,000 years ago. At the beginning of the Neolithic period in Europe, ∼8,000-7,000 years ago, closely related groups of early farmers appeared in Germany, Hungary and Spain, different from indigenous hunter-gatherers, whereas Russia was inhabited by a distinctive population of hunter-gatherers with high affinity to a ∼24,000-year-old Siberian. By ∼6,000-5,000 years ago, farmers throughout much of Europe had more hunter-gatherer ancestry than their predecessors, but in Russia, the Yamnaya steppe herders of this time were descended not only from the preceding eastern European hunter-gatherers, but also from a population of Near Eastern ancestry. Western and Eastern Europe came into contact ∼4,500 years ago, as the Late Neolithic Corded Ware people from Germany traced ∼75% of their ancestry to the Yamnaya, documenting a massive migration into the heartland of Europe from its eastern periphery. This steppe ancestry persisted in all sampled central Europeans until at least ∼3,000 years ago, and is ubiquitous in present-day Europeans. These results provide support for a steppe origin of at least some of the Indo-European languages of Europe.

  12. Massive migration from the steppe was a source for Indo-European languages in Europe

    Science.gov (United States)

    Haak, Wolfgang; Lazaridis, Iosif; Patterson, Nick; Rohland, Nadin; Mallick, Swapan; Llamas, Bastien; Brandt, Guido; Nordenfelt, Susanne; Harney, Eadaoin; Stewardson, Kristin; Fu, Qiaomei; Mittnik, Alissa; Bánffy, Eszter; Economou, Christos; Francken, Michael; Friederich, Susanne; Pena, Rafael Garrido; Hallgren, Fredrik; Khartanovich, Valery; Khokhlov, Aleksandr; Kunst, Michael; Kuznetsov, Pavel; Meller, Harald; Mochalov, Oleg; Moiseyev, Vayacheslav; Nicklisch, Nicole; Pichler, Sandra L.; Risch, Roberto; Rojo Guerra, Manuel A.; Roth, Christina; Szécsényi-Nagy, Anna; Wahl, Joachim; Meyer, Matthias; Krause, Johannes; Brown, Dorcas; Anthony, David; Cooper, Alan; Alt, Kurt Werner; Reich, David

    2016-01-01

    We generated genome-wide data from 69 Europeans who lived between 8,000–3,000 years ago by enriching ancient DNA libraries for a target set of almost 400,000 polymorphisms. Enrichment of these positions decreases the sequencing required for genome-wide ancient DNA analysis by a median of around 250-fold, allowing us to study an order of magnitude more individuals than previous studies1–8 and to obtain new insights about the past. We show that the populations of Western and Far Eastern Europe followed opposite trajectories between 8,000–5,000 years ago. At the beginning of the Neolithic period in Europe, 8,000–7,000 years ago, closely related groups of early farmers appeared in Germany, Hungary and Spain, different from indigenous hunter-gatherers, whereas Russia was inhabited by a distinctive population of hunter-gatherers with high affinity to a 24,000-year-old Siberian6. By 6,000–5,000 years ago, farmers throughout much of Europe had more hunter-gatherer ancestry than their predecessors, but in Russia, the Yamnaya steppe herders of this time were descended not only from the preceding eastern European hunter-gatherers, but also from a population of Near Eastern ancestry. Western and Eastern Europe came into contact 4,500 years ago, as the Late Neolithic Corded Ware people from Germany traced 75% of their ancestry to the Yamnaya, documenting a massive migration into the heartland of Europe from its eastern periphery. This steppe ancestry persisted in all sampled central Europeans until at least 3,000 years ago, and is ubiquitous in present-day Europeans. These results provide support for a steppe origin9 of at least some of the Indo-European languages of Europe. PMID:25731166

  13. Single nucleotide variants in metastasis-related genes are associated with breast cancer risk, by lymph node involvement and estrogen receptor status, in women with European and African ancestry.

    Science.gov (United States)

    Roberts, Michelle R; Sucheston-Campbell, Lara E; Zirpoli, Gary R; Higgins, Michael; Freudenheim, Jo L; Bandera, Elisa V; Ambrosone, Christine B; Yao, Song

    2017-03-01

    Single nucleotide polymorphisms (SNPs) in pathways influencing lymph node (LN) metastasis and estrogen receptor (ER) status in breast cancer may partially explain inter-patient variability in prognosis. We examined 154 SNPs in 12 metastasis-related genes for associations with breast cancer risk, stratified by LN and ER status, in European-American (EA) and African-American (AA) women. Two-thousand six hundred and seventy-one women enrolled in the Women's Circle of Health Study were genotyped. Pathway analyses were conducted using the adaptive rank truncated product (ARTP) method, with p ARTP  ≤ 0.10 as significant. Multi-allelic risk scores were created for the ARTP-significant gene(s). Single-SNP and risk score associations were modeled using logistic regression, with false discovery rate (FDR) P-value adjustment. Although single-SNP associations were not significant at p FDR  women, significant ARTP gene-level associations included CDH1 with LN+ (p ARTP  = 0.10; multi-allelic OR = 1.13, 95%CI 1.07-1.19, p FDR  = 0.0003) and SIPA1 with ER- breast cancer (p ARTP  = 0.10; multi-allelic OR = 1.16, 95%CI 1.02-1.31, p FDR  = 0.03). In EA women, MTA2 was associated with overall breast cancer risk (p ARTP  = 0.004), regardless of ER status, and with LN- disease (p ARTP  = 0.01). Also significant were SATB1 in ER- (p ARTP  = 0.03; multi-allelic OR = 1.12, 95%CI 1.05-1.20, p FDR  = 0.003) and KISS1 in LN- (p ARTP  = 0.10; multi-allelic OR = 1.18, 95%CI 1.08-1.29, p FDR  = 0.002) analyses. Among LN+ cases, significant ARTP associations were observed for SNAI1, CD82, NME1, and CTNNB1 (multi-allelic OR = 1.09, 95%CI 1.04-1.14, p FDR  = 0.001). Our findings suggest that variants in several metastasis genes may affect breast cancer risk by LN or ER status, although verification in larger studies is required. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  14. The history of African gene flow into Southern Europeans, Levantines, and Jews.

    Science.gov (United States)

    Moorjani, Priya; Patterson, Nick; Hirschhorn, Joel N; Keinan, Alon; Hao, Li; Atzmon, Gil; Burns, Edward; Ostrer, Harry; Price, Alkes L; Reich, David

    2011-04-01

    Previous genetic studies have suggested a history of sub-Saharan African gene flow into some West Eurasian populations after the initial dispersal out of Africa that occurred at least 45,000 years ago. However, there has been no accurate characterization of the proportion of mixture, or of its date. We analyze genome-wide polymorphism data from about 40 West Eurasian groups to show that almost all Southern Europeans have inherited 1%-3% African ancestry with an average mixture date of around 55 generations ago, consistent with North African gene flow at the end of the Roman Empire and subsequent Arab migrations. Levantine groups harbor 4%-15% African ancestry with an average mixture date of about 32 generations ago, consistent with close political, economic, and cultural links with Egypt in the late middle ages. We also detect 3%-5% sub-Saharan African ancestry in all eight of the diverse Jewish populations that we analyzed. For the Jewish admixture, we obtain an average estimated date of about 72 generations. This may reflect descent of these groups from a common ancestral population that already had some African ancestry prior to the Jewish Diasporas.

  15. The history of African gene flow into Southern Europeans, Levantines, and Jews.

    Directory of Open Access Journals (Sweden)

    Priya Moorjani

    2011-04-01

    Full Text Available Previous genetic studies have suggested a history of sub-Saharan African gene flow into some West Eurasian populations after the initial dispersal out of Africa that occurred at least 45,000 years ago. However, there has been no accurate characterization of the proportion of mixture, or of its date. We analyze genome-wide polymorphism data from about 40 West Eurasian groups to show that almost all Southern Europeans have inherited 1%-3% African ancestry with an average mixture date of around 55 generations ago, consistent with North African gene flow at the end of the Roman Empire and subsequent Arab migrations. Levantine groups harbor 4%-15% African ancestry with an average mixture date of about 32 generations ago, consistent with close political, economic, and cultural links with Egypt in the late middle ages. We also detect 3%-5% sub-Saharan African ancestry in all eight of the diverse Jewish populations that we analyzed. For the Jewish admixture, we obtain an average estimated date of about 72 generations. This may reflect descent of these groups from a common ancestral population that already had some African ancestry prior to the Jewish Diasporas.

  16. The History of African Gene Flow into Southern Europeans, Levantines, and Jews

    Science.gov (United States)

    Moorjani, Priya; Patterson, Nick; Hirschhorn, Joel N.; Keinan, Alon; Hao, Li; Atzmon, Gil; Burns, Edward; Ostrer, Harry; Price, Alkes L.; Reich, David

    2011-01-01

    Previous genetic studies have suggested a history of sub-Saharan African gene flow into some West Eurasian populations after the initial dispersal out of Africa that occurred at least 45,000 years ago. However, there has been no accurate characterization of the proportion of mixture, or of its date. We analyze genome-wide polymorphism data from about 40 West Eurasian groups to show that almost all Southern Europeans have inherited 1%–3% African ancestry with an average mixture date of around 55 generations ago, consistent with North African gene flow at the end of the Roman Empire and subsequent Arab migrations. Levantine groups harbor 4%–15% African ancestry with an average mixture date of about 32 generations ago, consistent with close political, economic, and cultural links with Egypt in the late middle ages. We also detect 3%–5% sub-Saharan African ancestry in all eight of the diverse Jewish populations that we analyzed. For the Jewish admixture, we obtain an average estimated date of about 72 generations. This may reflect descent of these groups from a common ancestral population that already had some African ancestry prior to the Jewish Diasporas. PMID:21533020

  17. Interest organizations across economic sectors: explaining interest group density in the European Union

    NARCIS (Netherlands)

    Berkhout, Joost; Carroll, Brendan; Braun, Caelesta; Chalmers, Adam; De Strooper, Tine; Lowery, David; Otjes, Simon; Rasmussen, Anne

    2015-01-01

    The number of interest organizations (density) varies across policy domains, political issues and economic sectors. This shapes the nature and outcomes of interest representation. In this contribution, we explain the density of interest organizations per economic sector in the European Union on the

  18. Interest organizations across economic sectors : explaining interest group density in the European Union

    NARCIS (Netherlands)

    Berkhout, Joost; Carroll, Brendan J.; Braun, Caelesta; Chalmers, Adam W.; Destrooper, Tine; Lowery, David; Otjes, Simon; Rasmussen, Anne

    2015-01-01

    The number of interest organizations (density) varies across policy domains, political issues and economic sectors. This shapes the nature and outcomes of interest representation. In this contribution, we explain the density of interest organizations per economic sector in the European Union on the

  19. European Higher Education, the Inclusion of Students from Under-Represented Groups and the Bologna Process

    Science.gov (United States)

    Riddell, Sheila; Weedon, Elisabet

    2014-01-01

    The central questions addressed in this paper are the following: (1) In the context of the (European Union) EU's goal of severing the link between social class background and higher education participation, what progress has been made in widening access over the past two decades? (2) Has the Open Method of Coordination (OMC) helped EU countries to…

  20. Epidemic Threats to the European Union: Expert Views on Six Virus Groups

    NARCIS (Netherlands)

    Kelly, L.; Brouwer, A.; Wilson, A.; Gale, P.; Snary, E.; Ross, D.; Vos, de C.J.

    2013-01-01

    In recent years, several animal disease epidemics have occurred within the European Union (EU). At the 4th Annual Meeting of the EPIZONE network (7-10 June 2010, St. Malo, France), an interactive session was run to elicit the opinions of delegates on a pre-defined list of epidemic threats to the EU.

  1. Reasons for Discontinuing Hashish Use in a Group of Central European Athletes.

    Science.gov (United States)

    Duncan, David F.

    1988-01-01

    Examined self-reported reasons for discontinuing marijuana use among 61 former marijuana using students at central European sports training facility. Most common reasons given for discontinuing marijuana use were dislike of effects, athletic training regimen, health reasons, and mental/emotional problems. (Author/NB)

  2. 87Sr/86Sr Ratios in Carbonate From the Red Lake and Steep Rock Groups in Canada Suggest Rb-enriched Continental Crust was Influencing Seawater Chemistry Prior to 3.0 Ga

    Science.gov (United States)

    Satkoski, A.; Fralick, P. W.; Beard, B. L.; Johnson, C.

    2015-12-01

    Previous work has suggested that prior to 2.5 Ga, Sr isotope compositions of seawater were essentially mantle buffered and the effects of continental weathering on seawater chemistry were negligible. To test this, we collected Sr isotope data from 2.93 and 2.80 Ga carbonates that are part of the Red Lake and Steep Rock groups (Canada), respectively. To better understand carbonate formation and any post-depositional alteration, Sr isotopes are considered with O isotopes and REEs, as well as Rb and Sr contents, including correction for decay of 87Rb. All samples have Y/Ho ratios higher than chondrite and have positive La anomalies, which, combined with low Rb contents suggests that clastic contamination is negligible. Samples we consider near pristine have δ18O (VSMOW) values >20‰. Samples with the highest Y/Ho ratios and largest La anomalies from Red Lake and Steep Rock have initial 87Sr/86Sr ratios of 0.7018-0.7020. This Sr isotope composition is significantly more radiogenic than contemporaneous mantle (0.7011-0.7012), especially at a time when the isotopic difference between the crust and mantle was much less than today. This implies that radiogenic continental crust was emergent and shed detritus into the world's oceans prior to 3.0 Ga, in contrast with proposals for submerged continental crust, but in line with new estimates that continental crust at 3.0 Ga was 60-70% of current volume. We contend that this large amount of crust combined with enhanced Archean weathering could account for the radiogenic Sr isotope compositions we report here, and suggests a significant impact from continental weathering on ocean chemistry during the Archean.

  3. Geochemical constraints on komatiite volcanism from Sargur Group Nagamangala greenstone belt, western Dharwar craton, southern India: Implications for Mesoarchean mantle evolution and continental growth

    Directory of Open Access Journals (Sweden)

    Tushipokla

    2013-05-01

    Full Text Available We present field, petrographic, major and trace element data for komatiites and komatiite basalts from Sargur Group Nagamangala greenstone belt, western Dharwar craton. Field evidences such as crude pillow structure indicate their eruption in a marine environment whilst spinifex texture reveals their komatiite nature. Petrographic data suggest that the primary mineralogy has been completely altered during post-magmatic processes associated with metamorphism corresponding to greenschist to lower amphibolite facies conditions. The studied komatiites contain serpentine, talc, tremolite, actinolite and chlorite whilst tremolite, actinolite with minor plagioclase in komatiitic basalts. Based on the published Sm-Nd whole rock isochron ages of adjoining Banasandra komatiites (northern extension of Nagamangala belt and further northwest in Nuggihalli belt and Kalyadi belt we speculate ca. 3.2–3.15 Ga for komatiite eruption in Nagamangala belt. Trace element characteristics particularly HFSE and REE patterns suggest that most of the primary geochemical characteristics are preserved with minor influence of post-magmatic alteration and/or contamination. About 1/3 of studied komatiites show Al-depletion whilst remaining komatiites and komatiite basalts are Al-undepleted. Several samples despite high MgO, (Gd/YbN ratios show low CaO/Al2O3 ratios. Such anomalous values could be related to removal of CaO from komatiites during fluid-driven hydrothermal alteration, thus lowering CaO/Al2O3 ratios. The elemental characteristics of Al-depleted komatiites such as higher (Gd/YbN (>1.0, CaO/Al2O3 (>1.0, Al2O3/TiO2 (18 together with higher HREE, Y, Zr suggest their derivation from shallower upper mantle without garnet involvement in residue. The observed chemical characteristics (CaO/Al2O3, Al2O3/TiO2, MgO, Ni, Cr, Nb, Zr, Y, Hf, and REE indicate derivation of the komatiite and komatiite basalt magmas from heterogeneous mantle (depleted to primitive mantle at

  4. Extending trust to immigrants: Generalized trust, cross-group friendship and anti-immigrant sentiments in 21 European societies

    OpenAIRE

    van der Linden, Meta; Hooghe, Marc; de Vroome, Thomas; Van Laar, Colette

    2017-01-01

    The aim of this study is twofold. First, we expand on the literature by testing whether generalized trust is negatively related to anti-immigrant sentiments in Europe. Second, we examine to what extent the relation between generalized trust and anti-immigrant sentiments is dependent upon cross-group friendships. We apply multilevel linear regression modeling to representative survey data enriched with levels of ethnic diversity covering 21 European countries. Results show that both generalize...

  5. European higher education, the inclusion of students from under-represented groups and the Bologna Process

    OpenAIRE

    Weedon, Elisabet; Riddell, Sheila

    2014-01-01

    The central questions addressed in this paper are the following: (1) In the context of the (European Union) EU’s goal of severing the link between social class background and higher education participation, what progress has been made in widening access over the past two decades? (2) Has the Open Method of Coordination (OMC) helped EU countries to harmonize their policy and practice in relation to widening access to higher education? (3) What patterns of social stratification are evident in t...

  6. Knowledge and Attitudes of European Kosher Consumers as Revealed through Focus Groups

    OpenAIRE

    Bergeaud-Blackler, Florence; Zivotofsky, Ari Z.; Miele, Mara

    2013-01-01

    International audience; There is a very small, yet important minority within the community of European Union kosher consumers. There is a great deal of research regarding objective aspects of the kosher religious as well as civil laws and their implementation, but comparatively little research about the subjective attitudes, opinions, and concerns of those who actually purchase and consume kosher food. Such information can be important for a variety of interested parties including suppliers, ...

  7. What the Face and Body Reveal: In-Group Emotion Effects and Stereotyping of Emotion in African American and European American Children

    Science.gov (United States)

    Tuminello, Elizabeth R.; Davidson, Denise

    2011-01-01

    This study examined whether 3- to 7-year-old African American and European American children's assessment of emotion in face-only, face + body, and body-only photographic stimuli was affected by in-group emotion recognition effects and racial or gender stereotyping of emotion. Evidence for racial in-group effects was found, with European American…

  8. Surfactant treatment of neonates with respiratory failure and group B streptococcal infection. Members of the Collaborative European Multicenter Study Group

    NARCIS (Netherlands)

    Herting, E.; Gefeller, O.; Land, M.; Van Sonderen, L.; Harms, K.; Robertson, B.

    2000-01-01

    Connatal pneumonia caused by group B streptococcal (GBS) infection may be associated with surfactant dysfunction. We investigated the effects of surfactant treatment in term and preterm neonates with GBS infection and respiratory failure, in comparison with corresponding data from a control

  9. Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans

    DEFF Research Database (Denmark)

    Raghavan, Maanasa; Skoglund, Pontus; Graf, Kelly E.

    2014-01-01

    The origins of the First Americans remain contentious. Although Native Americans seem to be genetically most closely related to east Asians, there is no consensus with regard to which specific Old World populations they are closest to. Here we sequence the draft genome of an approximately 24...... and Mesolithic European hunter-gatherers, and the Y chromosome of MA-1 is basal to modern-day western Eurasians and near the root of most Native American lineages. Similarly, we find autosomal evidence that MA-1 is basal to modern-day western Eurasians and genetically closely related to modern-day Native...... Americans, with no close affinity to east Asians. This suggests that populations related to contemporary western Eurasians had a more north-easterly distribution 24,000 years ago than commonly thought. Furthermore, we estimate that 14 to 38% of Native American ancestry may originate through gene flow from...

  10. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

    NARCIS (Netherlands)

    Mahajan, Anubha; Go, Min Jin; Zhang, Weihua; Below, Jennifer E.; Gaulton, Kyle J.; Ferreira, Teresa; Horikoshi, Momoko; Johnson, Andrew D.; Ng, Maggie C. Y.; Prokopenko, Inga; Saleheen, Danish; Wang, Xu; Zeggini, Eleftheria; Abecasis, Goncalo R.; Adair, Linda S.; Almgren, Peter; Atalay, Mustafa; Aung, Tin; Baldassarre, Damiano; Balkau, Beverley; Bao, Yuqian; Barnett, Anthony H.; Barroso, Ines; Basit, Abdul; Been, Latonya F.; Beilby, John; Bell, Graeme I.; Benediktsson, Rafn; Bergman, Richard N.; Boehm, Bernhard O.; Boerwinkle, Eric; Bonnycastle, Lori L.; Burtt, Noël; Cai, Qiuyin; Campbell, Harry; Carey, Jason; Cauchi, Stephane; Caulfield, Mark; Chan, Juliana C. N.; Chang, Li-Ching; Chang, Tien-Jyun; Chang, Yi-Cheng; Charpentier, Guillaume; Chen, Chien-Hsiun; Chen, Han; Chen, Yuan-Tsong; Chia, Kee-Seng; Chidambaram, Manickam; Chines, Peter S.; Cho, Nam H.; Cho, Young Min; Chuang, Lee-Ming; Collins, Francis S.; Cornelis, Marilyn C.; Couper, David J.; Crenshaw, Andrew T.; van Dam, Rob M.; Danesh, John; Das, Debashish; de Faire, Ulf; Dedoussis, George; Deloukas, Panos; Dimas, Antigone S.; Dina, Christian; Doney, Alex S. F.; Donnelly, Peter J.; Dorkhan, Mozhgan; van Duijn, Cornelia; Dupuis, Josée; Edkins, Sarah; Elliott, Paul; Emilsson, Valur; Erbel, Raimund; Eriksson, Johan G.; Escobedo, Jorge; Esko, Tonu; Eury, Elodie; Florez, Jose C.; Fontanillas, Pierre; Forouhi, Nita G.; Forsen, Tom; Fox, Caroline; Fraser, Ross M.; Frayling, Timothy M.; Froguel, Philippe; Frossard, Philippe; Gao, Yutang; Gertow, Karl; Gieger, Christian; Gigante, Bruna; Grallert, Harald; Grant, George B.; Groop, Leif C.; Groves, Christopher J.; Grundberg, Elin; Guiducci, Candace; Hamsten, Anders; Han, Bok-Ghee; Hara, Kazuo; Hassanali, Neelam; Hattersley, Andrew T.; Hayward, Caroline; Hedman, Asa K.; Herder, Christian; Hofman, Albert; Holmen, Oddgeir L.; Hovingh, Kees; Hreidarsson, Astradur B.; Hu, Cheng; Hu, Frank B.; Hui, Jennie; Humphries, Steve E.; Hunt, Sarah E.; Hunter, David J.; Hveem, Kristian; Hydrie, Zafar I.; Ikegami, Hiroshi; Illig, Thomas; Ingelsson, Erik; Islam, Muhammed; Isomaa, Bo; Jackson, Anne U.; Jafar, Tazeen; James, Alan; Jia, Weiping; Jöckel, Karl-Heinz; Jonsson, Anna; Jowett, Jeremy B. M.; Kadowaki, Takashi; Kang, Hyun Min; Kanoni, Stavroula; Kao, Wen Hong L.; Kathiresan, Sekar; Kato, Norihiro; Katulanda, Prasad; Keinanen-Kiukaanniemi, Sirkka M.; Kelly, Ann M.; Khan, Hassan; Khaw, Kay-Tee; Khor, Chiea-Chuen; Kim, Hyung-Lae; Kim, Sangsoo; Kim, Young Jin; Kinnunen, Leena; Klopp, Norman; Kong, Augustine; Korpi-Hyövälti, Eeva; Kowlessur, Sudhir; Kraft, Peter; Kravic, Jasmina; Kristensen, Malene M.; Krithika, S.; Kumar, Ashish; Kumate, Jesus; Kuusisto, Johanna; Kwak, Soo Heon; Laakso, Markku; Lagou, Vasiliki; Lakka, Timo A.; Langenberg, Claudia; Langford, Cordelia; Lawrence, Robert; Leander, Karin; Lee, Jen-Mai; Lee, Nanette R.; Li, Man; Li, Xinzhong; Li, Yun; Liang, Junbin; Liju, Samuel; Lim, Wei-Yen; Lind, Lars; Lindgren, Cecilia M.; Lindholm, Eero; Liu, Ching-Ti; Liu, Jian Jun; Lobbens, Stéphane; Long, Jirong; Loos, Ruth J. F.; Lu, Wei; Luan, Jian'an; Lyssenko, Valeriya; Ma, Ronald C. W.; Maeda, Shiro; Mägi, Reedik; Männistö, Satu; Matthews, David R.; Meigs, James B.; Melander, Olle; Metspalu, Andres; Meyer, Julia; Mirza, Ghazala; Mihailov, Evelin; Moebus, Susanne; Mohan, Viswanathan; Mohlke, Karen L.; Morris, Andrew D.; Mühleisen, Thomas W.; Müller-Nurasyid, Martina; Musk, Bill; Nakamura, Jiro; Nakashima, Eitaro; Navarro, Pau; Ng, Peng-Keat; Nica, Alexandra C.; Nilsson, Peter M.; Njølstad, Inger; Nöthen, Markus M.; Ohnaka, Keizo; Ong, Twee Hee; Owen, Katharine R.; Palmer, Colin N. A.; Pankow, James S.; Park, Kyong Soo; Parkin, Melissa; Pechlivanis, Sonali; Pedersen, Nancy L.; Peltonen, Leena; Perry, John R. B.; Peters, Annette; Pinidiyapathirage, Janani M.; Platou, Carl G. P.; Potter, Simon; Price, Jackie F.; Qi, Lu; Radha, Venkatesan; Rallidis, Loukianos; Rasheed, Asif; Rathmann, Wolfgang; Rauramaa, Rainer; Raychaudhuri, Soumya; Rayner, N. William; Rees, Simon D.; Rehnberg, Emil; Ripatti, Samuli; Robertson, Neil; Roden, Michael; Rossin, Elizabeth J.; Rudan, Igor; Rybin, Denis; Saaristo, Timo E.; Salomaa, Veikko; Saltevo, Juha; Samuel, Maria; Sanghera, Dharambir K.; Saramies, Jouko; Scott, James; Scott, Laura J.; Scott, Robert A.; Segrè, Ayellet V.; Sehmi, Joban; Sennblad, Bengt; Shah, Nabi; Shah, Sonia; Shera, A. Samad; Shu, Xiao Ou; Shuldiner, Alan R.; Sigurðsson, Gunnar; Sijbrands, Eric; Silveira, Angela; Sim, Xueling; Sivapalaratnam, Suthesh; Small, Kerrin S.; So, Wing Yee; Stančáková, Alena; Stefansson, Kari; Steinbach, Gerald; Steinthorsdottir, Valgerdur; Stirrups, Kathleen; Strawbridge, Rona J.; Stringham, Heather M.; Sun, Qi; Suo, Chen; Syvänen, Ann-Christine; Takayanagi, Ryoichi; Takeuchi, Fumihiko; Tay, Wan Ting; Teslovich, Tanya M.; Thorand, Barbara; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Tikkanen, Emmi; Trakalo, Joseph; Tremoli, Elena; Trip, Mieke D.; Tsai, Fuu Jen; Tuomi, Tiinamaija; Tuomilehto, Jaakko; Uitterlinden, Andre G.; Valladares-Salgado, Adan; Vedantam, Sailaja; Veglia, Fabrizio; Voight, Benjamin F.; Wang, Congrong; Wareham, Nicholas J.; Wennauer, Roman; Wickremasinghe, Ananda R.; Wilsgaard, Tom; Wilson, James F.; Wiltshire, Steven; Winckler, Wendy; Wong, Tien Yin; Wood, Andrew R.; Wu, Jer-Yuarn; Wu, Ying; Yamamoto, Ken; Yamauchi, Toshimasa; Yang, Mingyu; Yengo, Loic; Yokota, Mitsuhiro; Young, Robin; Zabaneh, Delilah; Zhang, Fan; Zhang, Rong; Zheng, Wei; Zimmet, Paul Z.; Altshuler, David; Bowden, Donald W.; Cho, Yoon Shin; Cox, Nancy J.; Cruz, Miguel; Hanis, Craig L.; Kooner, Jaspal; Lee, Jong-Young; Seielstad, Mark; teo, Yik Ying; Boehnke, Michael; Parra, Esteban J.; Chambers, John C.; Tai, E. Shyong; McCarthy, Mark I.; Morris, Andrew P.

    2014-01-01

    To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexican and Mexican American ancestry. We

  11. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

    DEFF Research Database (Denmark)

    Mahajan, Anubha; Go, Min Jin; Zhang, Weihua

    2014-01-01

    To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexican and Mexican American ancestry. We obs...

  12. Effects of cold-water corals on fish diversity and density (European continental margin: Arctic, NE Atlantic and Mediterranean Sea): Data from three baited lander systems

    Science.gov (United States)

    Linley, T. D.; Lavaleye, M.; Maiorano, P.; Bergman, M.; Capezzuto, F.; Cousins, N. J.; D'Onghia, G.; Duineveld, G.; Shields, M. A.; Sion, L.; Tursi, A.; Priede, I. G.

    2017-11-01

    Autonomous photographic landers are a low-impact survey method for the assessment of mobile fauna in situations where methods such as trawling are not feasible or ethical. Three institutions collaborated through the CoralFISH project, each using differing lander systems, to assess the effects of cold-water corals on fish diversity and density. The Biogenic Reef Ichthyofauna Lander (BRIL, Oceanlab), Autonomous Lander for Biological Experiments (ALBEX, NIOZ) and the Marine Environment MOnitoring system (MEMO, CoNISMa) were deployed in four CoralFISH European study regions covering the Arctic, NE Atlantic and Mediterranean, namely Northern Norway (275-310 m depth), Belgica Mound Province (686-1025 m depth), the Bay of Biscay (623-936 m depth), and Santa Maria di Leuca (547-670 m depth). A total of 33 deployments were carried out in the different regions. Both the time of first arrival (Tarr) and the maximum observed number of fish (MaxN) were standardised between the different lander systems and compared between coral and reference stations as indicators of local fish density. Fish reached significantly higher MaxN at the coral stations than at the reference stations. Fish were also found to have significantly lower Tarr in the coral areas in data obtained from the BRIL and MEMO landers. All data indicated that fish abundance is higher within the coral areas. Fish species diversity was higher within the coral areas of Atlantic Ocean while in Northern Norway and Santa Maria di Leuca coral areas, diversity was similar at coral and reference stations but a single dominant species (Brosme brosme and Conger conger respectively) showed much higher density within the coral areas. Indicating that, while cold-water coral reefs have a positive effect on fish diversity and/or abundance, this effect varies across Europe's reefs.

  13. Ancestry and dental development: A geographic and genetic perspective

    NARCIS (Netherlands)

    B. Dhamo (Brunilda); L. Kragt (Lea); Grgic, O. (Olja); S. Vucic (Strahinja); M.C. Medina-Gomez (Carolina); Rivadeneira, F. (Fernando); V.W.V. Jaddoe (Vincent); E.B. Wolvius (Eppo); E.M. Ongkosuwito (Edwin)

    2017-01-01

    textabstractObjective: In this study, we investigated the influence of ancestry on dental development in the Generation R Study. Methods: Information on geographic ancestry was available in 3,600 children (1,810 boys and 1,790 girls, mean age 9.81±0.35 years) and information about genetic ancestry

  14. Turkish population structure and genetic ancestry reveal relatedness among Eurasian populations.

    Science.gov (United States)

    Hodoğlugil, Uğur; Mahley, Robert W

    2012-03-01

    Turkey has experienced major population movements. Population structure and genetic relatedness of samples from three regions of Turkey, using over 500,000 SNP genotypes, were compared together with Human Genome Diversity Panel (HGDP) data. To obtain a more representative sampling from Central Asia, Kyrgyz samples (Bishkek, Kyrgyzstan) were genotyped and analysed. Principal component (PC) analysis reveals a significant overlap between Turks and Middle Easterners and a relationship with Europeans and South and Central Asians; however, the Turkish genetic structure is unique. FRAPPE, STRUCTURE, and phylogenetic analyses support the PC analysis depending upon the number of parental ancestry components chosen. For example, supervised STRUCTURE (K=3) illustrates a genetic ancestry for the Turks of 45% Middle Eastern (95% CI, 42-49), 40% European (95% CI, 36-44) and 15% Central Asian (95% CI, 13-16), whereas at K=4 the genetic ancestry of the Turks was 38% European (95% CI, 35-42), 35% Middle Eastern (95% CI, 33-38), 18% South Asian (95% CI, 16-19) and 9% Central Asian (95% CI, 7-11). PC analysis and FRAPPE/STRUCTURE results from three regions in Turkey (Aydin, Istanbul and Kayseri) were superimposed, without clear subpopulation structure, suggesting sample homogeneity. Thus, this study demonstrates admixture of Turkish people reflecting the population migration patterns. © 2012 The Authors Annals of Human Genetics © 2012 Blackwell Publishing Ltd/University College London.

  15. LOCAL ACTION GROUPS - THE EUROPEAN INTEGRATION CATALYST FOR THE ROMANIAN RURAL AREA

    Directory of Open Access Journals (Sweden)

    Mosora Liviu - Cosmin

    2011-07-01

    Full Text Available Romania has the highest share of European Union rural areas (44.9% in 2009, which generates and maintains a long series of regional disparities. Because of these disparities, the economy faces a number of elements that undermine the quality of human and social capital and reduces the potential for growth: precarious social and economic infrastructure, reduced access to markets and thus to goods, a low level of both economic cohesion and living standards, and a difficult access to education and training (leading to the underutilization of labor in rural areas, while major shortages in the labor market and increased migration phenomenon manifests.\\r\

  16. European wildcat populations are subdivided into five main biogeographic groups: consequences of Pleistocene climate changes or recent anthropogenic fragmentation?

    Science.gov (United States)

    Mattucci, Federica; Oliveira, Rita; Lyons, Leslie A; Alves, Paulo C; Randi, Ettore

    2016-01-01

    Extant populations of the European wildcat are fragmented across the continent, the likely consequence of recent extirpations due to habitat loss and over-hunting. However, their underlying phylogeographic history has never been reconstructed. For testing the hypothesis that the European wildcat survived the Ice Age fragmented in Mediterranean refuges, we assayed the genetic variation at 31 microsatellites in 668 presumptive European wildcats sampled in 15 European countries. Moreover, to evaluate the extent of subspecies/population divergence and identify eventual wild × domestic cat hybrids, we genotyped 26 African wildcats from Sardinia and North Africa and 294 random-bred domestic cats. Results of multivariate analyses and Bayesian clustering confirmed that the European wild and the domestic cats (plus the African wildcats) belong to two well-differentiated clusters (average Ф ST = 0.159, r st = 0.392, P > 0.001; Analysis of molecular variance [AMOVA]). We identified from c. 5% to 10% cryptic hybrids in southern and central European populations. In contrast, wild-living cats in Hungary and Scotland showed deep signatures of genetic admixture and introgression with domestic cats. The European wildcats are subdivided into five main genetic clusters (average Ф ST = 0.103, r st = 0.143, P > 0.001; AMOVA) corresponding to five biogeographic groups, respectively, distributed in the Iberian Peninsula, central Europe, central Germany, Italian Peninsula and the island of Sicily, and in north-eastern Italy and northern Balkan regions (Dinaric Alps). Approximate Bayesian Computation simulations supported late Pleistocene-early Holocene population splittings (from c. 60 k to 10 k years ago), contemporary to the last Ice Age climatic changes. These results provide evidences for wildcat Mediterranean refuges in southwestern Europe, but the evolution history of eastern wildcat populations remains to be clarified. Historical genetic subdivisions suggest

  17. Chromosome Connections: Compelling Clues to Common Ancestry

    Science.gov (United States)

    Flammer, Larry

    2013-01-01

    Students compare banding patterns on hominid chromosomes and see striking evidence of their common ancestry. To test this, human chromosome no. 2 is matched with two shorter chimpanzee chromosomes, leading to the hypothesis that human chromosome 2 resulted from the fusion of the two shorter chromosomes. Students test that hypothesis by looking for…

  18. Epidemiology, biology, and treatment of triple-negative breast cancer in women of African ancestry.

    Science.gov (United States)

    Brewster, Abenaa M; Chavez-MacGregor, Mariana; Brown, Powel

    2014-12-01

    Breast cancer incidence is increasing worldwide, and breast cancer-related mortality is highest in women of African ancestry, who are more likely to have basal-like or triple-negative breast cancer (TNBC) than are women of European ancestry. Identification of cultural, epidemiological, and genetic risk factors that predispose women of African ancestry to TNBC is an active area of research. Despite the aggressive behaviour of TNBC, achievement of a pathological complete response with chemotherapy is associated with good long-term survival outcomes, and sensitivity to chemotherapy does not seem to differ according to ethnic origin. Discovery of the molecular signalling molecules that define TNBC heterogeneity has led to the development of targeted agents such as inhibitors of poly (ADP-ribose) polymerase-1 and mTOR and immunomodulatory drugs that are in the early stages of clinical testing. First, we summarise the existing published work on the differences reported on the epidemiology, biology, and response to systemic treatment of TNBC between women of African ancestry and white women, and identify some gaps in knowledge. Second, we review the opportunities for development of new therapeutic agents in view of the potential high clinical relevance for patients with TNBC irrespective of race or ethnic origin. Copyright © 2014 Elsevier Ltd. All rights reserved.

  19. Characteristics of Migration Flows and Integration of New Immigrant Groups in the Labour Market in Southern European EU Member States

    Directory of Open Access Journals (Sweden)

    Snježana Gregurović

    2011-04-01

    Full Text Available In the early 1990s, and especially after the accession to the European Union, southern European countries were faced with an increased influx of immigration, particularly by third country citizens. The majority of migration flows refers to illegal migration. In this paper, the integration of new immigrant groups in the labour market has been analysed by using the theory of the segmented labour market. A high degree of labour market segmentation and irregularities in the analyzed countries is particularly present in the construction, agricultural and service sectors (households, hotels and catering. Illegal recruitment is an important attractive factor for illegal migrants, and encourages the development of illegal migration. Frequent implementation of control programmes solves the problem of illegal migrants only partially while, at the same time, an increasing number of new immigrants is being “attracted”. Due to special features of more recent migration flows in southern European countries, it is possible to apply the “South European immigration model” by King and Ribas-Mateos, portraying these flows triangularly. In this model the mass influx of immigration is connected to a high level of irregularities in the economic sector and a weak welfare state. The uneven economic development of sending and receiving countries, as well as the perception of new immigrants (third country citizens exclusively through the prism of homo economicus, does not inspire too much optimism that their position in the labour market and in society will significantly improve in the foreseeable future. On behalf of more equitable treatment of new immigrant groups, their greater recognition should be demanded from receiving countries’ governments as well as the regulation of their position by introducing new and different norms and standards, based in the first place on universal human rights.

  20. Quantification of Maxillary Dental Arcade Curvature and the Estimation of Biological Ancestry in Forensic Anthropology.

    Science.gov (United States)

    Clark, Melissa A; Guatelli-Steinberg, Debbie; Hubbe, Mark; Stout, Sam

    2016-01-01

    Previous studies suggest that palate shape is a useful indicator of biological ancestry in human remains. This study evaluates interobserver error in ancestry estimation using palate shape and explores palate shape variation in Gullah (descendants of West Africans) and Seminole (Indigenous American) population samples using geometric morphometric analysis. Ten participants were asked to ascribe biological ancestry and shape to 28 dental casts based on a classification scheme employed in previous studies. The mean correct classification was 42.0%, indicating that the likelihood of assigning the correct ancestry is very poor and not significantly different from random assignment (p = 0.12). The accuracy analysis based on categorical classification of the casts was complemented by geometric morphometric analysis of nine 3D landmarks reflecting palate shape of 158 casts. Principal component analysis results show no difference between populations regarding palate shape, and cross-validated discriminant function analysis correctly classified only 62.0% of the specimens. Combined, these results show that previous methods to estimate ancestry are inaccurate and that this inaccuracy is probably due to a lack of palate shape differences between groups, rather than limitation of the analytical method per se. Therefore, we recommend caution should be used when choosing to apply the analysis of palate shape in forensically relevant contexts. © 2015 American Academy of Forensic Sciences.

  1. Forensic ancestry analysis with two capillary electrophoresis ancestry informative marker (AIM) panels

    DEFF Research Database (Denmark)

    Santos, C; Fondevila, M; Ballard, D

    2015-01-01

    There is increasing interest in forensic ancestry tests, which are part of a growing number of DNA analyses that can enhance routine profiling by obtaining additional genetic information about unidentified DNA donors. Nearly all ancestry tests use single nucleotide polymorphisms (SNPs), but these......There is increasing interest in forensic ancestry tests, which are part of a growing number of DNA analyses that can enhance routine profiling by obtaining additional genetic information about unidentified DNA donors. Nearly all ancestry tests use single nucleotide polymorphisms (SNPs...... SNaPshot and a 46-plex Indel test using PCR-to-CE. Laboratories were asked to type five samples with different ancestries and detect an additional mixed DNA sample. Statistical inference of ancestry was made by participants using the Snipper online Bayes analysis portal plus an optional PCA module......'s data) that rose to 97.3% excluding one laboratory with a large number of miscalled genotypes. Indel genotyping gave a higher concordance rate of 99.8% and a reduced no-call rate compared to SNP analysis. All participants detected the mixture from their Indel peak height data and successfully assigned...

  2. Pathways to First-Episode Care for Psychosis in African-, Caribbean-, and European-Origin Groups in Ontario

    Science.gov (United States)

    Anderson, Kelly K; Flora, Nina; Ferrari, Manuela; Tuck, Andrew; Archie, Suzanne; Kidd, Sean; Tang, Taryn; Kirmayer, Laurence J; McKenzie, Kwame

    2015-01-01

    Objective: To compare the pathways to care and duration of untreated psychosis (DUP) for people of Black-African, Black-Caribbean, or White-European origin with first-episode psychosis (FEP). Methods: We recruited a sample of 171 patients with FEP of Black-African, Black-Caribbean, and White-European origin from hospital- and community-based early intervention services (EIS) in the cities of Toronto and Hamilton. We compared the 3 groups on DUP and key indicators of the pathway to care. Results: We observed differences in pathways to care across the 3 groups. Black-Caribbean participants had an increased odds of referral from an inpatient unit to EIS (OR 3.33; 95% CI 1.46 to 7.60) and a decreased odds of general practitioner involvement on the pathway to care (OR 0.17; 95% CI 0.07 to 0.46), as well as fewer total contacts (exp[β] 0.77; 95% CI 0.60 to 0.99) when compared with White-European participants. Black-African participants had an increased odds of contact with the emergency department at first contact (OR 3.78; 95% CI 1.31 to 10.92). The differences in the DUP between groups were not statistically significant. Conclusions: Our findings suggest that there are significant differences in the pathways to EIS for psychosis for people of African and Caribbean origin in our Canadian context. It is essential to gain a comprehensive understanding of the pathways that different population groups take to mental health services, and the reasons behind observed differences, to inform the development of equitable services, targeting patients in the critical early stages of psychotic disorder. PMID:26174526

  3. Consistent association of type 2 diabetes risk variants found in europeans in diverse racial and ethnic groups.

    Directory of Open Access Journals (Sweden)

    Kevin M Waters

    2010-08-01

    Full Text Available It has been recently hypothesized that many of the signals detected in genome-wide association studies (GWAS to T2D and other diseases, despite being observed to common variants, might in fact result from causal mutations that are rare. One prediction of this hypothesis is that the allelic associations should be population-specific, as the causal mutations arose after the migrations that established different populations around the world. We selected 19 common variants found to be reproducibly associated to T2D risk in European populations and studied them in a large multiethnic case-control study (6,142 cases and 7,403 controls among men and women from 5 racial/ethnic groups (European Americans, African Americans, Latinos, Japanese Americans, and Native Hawaiians. In analysis pooled across ethnic groups, the allelic associations were in the same direction as the original report for all 19 variants, and 14 of the 19 were significantly associated with risk. In summing the number of risk alleles for each individual, the per-allele associations were highly statistically significant (P<10(-4 and similar in all populations (odds ratios 1.09-1.12 except in Japanese Americans the estimated effect per allele was larger than in the other populations (1.20; P(het = 3.8×10(-4. We did not observe ethnic differences in the distribution of risk that would explain the increased prevalence of type 2 diabetes in these groups as compared to European Americans. The consistency of allelic associations in diverse racial/ethnic groups is not predicted under the hypothesis of Goldstein regarding "synthetic associations" of rare mutations in T2D.

  4. Continental Divide Trail

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — This shapefile was created to show the proximity of the Continental Divide to the Continental Divide National Scenic Trail in New Mexico. This work was done as part...

  5. Active case finding of tuberculosis in Europe: a Tuberculosis Network European Trials Group (TBNET) survey

    DEFF Research Database (Denmark)

    Bothamley, G H; Ditiu, L; Migliori, G B

    2008-01-01

    Tuberculosis control depends on successful case finding and treatment of individuals infected with Mycobacterium tuberculosis. Passive case finding is widely practised: the present study aims to ascertain the consensus and possible improvements in active case finding across Europe. Recommendations...... from national guidelines were collected from 50 countries of the World Health Organization European region using a standard questionnaire. Contacts are universally screened for active tuberculosis and latent tuberculosis infection (LTBI). Most countries (>70%) screen those with HIV infection, prisoners...... and in-patient contacts. Screening of immigrants is related to their contribution to national rates of tuberculosis. Only 25 (50%) out of 50 advise a request for symptoms in their guidelines. A total of 36 (72%) out of 50 countries recommend sputum examination for those with a persistent cough; 13...

  6. Insight into ethnic flux: marriage patterns among Jews of mixed ancestry in Israel.

    Science.gov (United States)

    Okun, Barbara S

    2004-02-01

    Increases in ethnic and racial intermarriage in immigrant countries have led to growing proportions of persons of mixed ancestry and backgrounds. The marriage patterns of these persons both reflect and affect the salience and meaning of current forms of ethnicity and race in these societies. This article analyzes the marriage behavior of children of ethnically mixed unions in the Jewish population of Israel. Among persons of mixed ancestry, educational attainment plays a large role in whether they marry Ashkenazim or less economically advantaged Mizrahim. Such patterns suggest that intermarriage in Israel does not necessarily reduce ethnic differences in socioeconomic status or the salience of ethnicity among disadvantaged groups.

  7. Factors associated with quality of services for marginalized groups with mental health problems in 14 European countries.

    Science.gov (United States)

    Costa, Diogo; Matanov, Aleksandra; Canavan, Reamonn; Gabor, Edina; Greacen, Tim; Vondráčková, Petra; Kluge, Ulrike; Nicaise, Pablo; Moskalewicz, Jacek; Díaz-Olalla, José Manuel; Straßmayr, Christa; Kikkert, Martijn; Soares, Joaquim J F; Gaddini, Andrea; Barros, Henrique; Priebe, Stefan

    2014-02-03

    Different service characteristics are known to influence mental health care delivery. Much less is known about the impact of contextual factors, such as the socioeconomic circumstances, on the provision of care to socially marginalized groups.The objectives of this work were to assess the organisational characteristics of services providing mental health care for marginalized groups in 14 European capital cities and to explore the associations between organisational quality, service features and country-level characteristics. 617 services were assessed in two highly deprived areas in 14 European capital cities. A Quality Index of Service Organisation (QISO) was developed and applied across all sites. Service characteristics and country level socioeconomic indicators were tested and related with the Index using linear regressions and random intercept linear models. The mean (standard deviation) of the QISO score (minimum = 0; maximum = 15) varied from 8.63 (2.23) in Ireland to 12.40 (2.07) in Hungary. The number of different programmes provided was the only service characteristic significantly correlated with the QISO (p GDP) was inversely associated with the QISO. Nearly 15% of the variance of the QISO was attributed to country-level variables, with GDP explaining 12% of this variance. Socioeconomic contextual factors, in particular the national GDP are likely to influence the organisational quality of services providing mental health care for marginalized groups. Such factors should be considered in international comparative studies. Their significance for different types of services should be explored in further research.

  8. Whole-genome pyrosequencing of an epidemic multidrug-resistant Acinetobacter baumannii strain belonging to the European clone II group

    DEFF Research Database (Denmark)

    Iacono, M.; Villa, L.; Fortini, D.

    2008-01-01

    The whole-genome sequence of an epidemic, multidrug-resistant Acinetobacter baumannii strain (strain ACICU) belonging to the European clone II group and carrying the plasmid-mediated bla(OXA-58) carbapenem resistance gene was determined. The A. baumannii ACICU genome was compared with the genomes...... of A. baumannii ATCC 17978 and Acinetobacter baylyi ADP1, with the aim of identifying novel genes related to virulence and drug resistance. A. baumannii ACICU has a single chromosome of 3,904,116 bp (which is predicted to contain 3,758 genes) and two plasmids, pACICUI and pACICU2, of 28,279 and 64...

  9. Advancing the sleep/wake schedule impacts the sleep of African-Americans more than European-Americans.

    Directory of Open Access Journals (Sweden)

    Gemma M Paech

    Full Text Available There are differences in sleep duration between Blacks/African-Americans and Whites/European-Americans. Recently, we found differences between these ancestry groups in the circadian system, such as circadian period and the magnitude of phase shifts. Here we document the role of ancestry on sleep and cognitive performance before and after a 9-h advance in the sleep/wake schedule similar to flying east or having a large advance in sleep times due to shiftwork, both of which produce extreme circadian misalignment. Non-Hispanic African and European-Americans (N = 20 and 17 respectively, aged 21-43 years were scheduled to four baseline days each with 8 h time in bed based on their habitual sleep schedule. This sleep/wake schedule was then advanced 9 h earlier for three days. Sleep was monitored using actigraphy. During the last two baseline/aligned days and the first two advanced/misaligned days, beginning 2 h after waking, cognitive performance was measured every 3 h using the Automated Neuropsychological Assessment Metrics (ANAM test battery. Mixed model ANOVAs assessed the effects of ancestry (African-American or European-American and condition (baseline/aligned or advanced/misaligned on sleep and cognitive performance. There was decreased sleep and impaired performance in both ancestry groups during the advanced/misaligned days compared to the baseline/aligned days. In addition, African-Americans obtained less sleep than European-Americans, especially on the first two days of circadian misalignment. Cognitive performance did not differ between African-Americans and European-Americans during baseline days. During the two advanced/misaligned days, however, African-Americans tended to perform slightly worse compared to European-Americans, particularly at times corresponding to the end of the baseline sleep episodes. Advancing the sleep/wake schedule, creating extreme circadian misalignment, had a greater impact on the sleep of African-Americans than

  10. The EULAR Study Group for Registers and Observational Drug Studies: comparability of the patient case mix in the European biologic disease modifying anti-rheumatic drug registers

    NARCIS (Netherlands)

    Kearsley-Fleet, L.; Zavada, J.; Hetland, M.L.; Nordstrom, D.C.; Aaltonen, K.J.; Listing, J.; Zink, A.; Gati, T.; Rojkovich, B.; Iannone, F.; Gremese, E.; Riel, P.L.C.M. van; Laar, M.A. van der; Lie, E.; Kvien, T.K.; Canhao, H.; Fonseca, J.E.; Rotar, Z.; Loza, E.; Carmona, L.; Askling, J.; Johansson, K.; Finckh, A.; Dixon, W.G.; Hyrich, K.L.

    2015-01-01

    OBJECTIVE: Under the auspices of the European League Against Rheumatism (EULAR), a study group of investigators representing European biologic DMARD (bDMARD) registers was convened. The purpose of this initial assessment was to collect and compare a cross section of patient characteristics and

  11. High Luminosity Large Hadron Collider A description for the European Strategy Preparatory Group

    CERN Document Server

    Rossi, L

    2012-01-01

    The Large Hadron Collider (LHC) is the largest scientific instrument ever built. It has been exploring the new energy frontier since 2009, gathering a global user community of 7,000 scientists. It will remain the most powerful accelerator in the world for at least two decades, and its full exploitation is the highest priority in the European Strategy for Particle Physics, adopted by the CERN Council and integrated into the ESFRI Roadmap. To extend its discovery potential, the LHC will need a major upgrade around 2020 to increase its luminosity (rate of collisions) by a factor of 10 beyond its design value. As a highly complex and optimized machine, such an upgrade of the LHC must be carefully studied and requires about 10 years to implement. The novel machine configuration, called High Luminosity LHC (HL-LHC), will rely on a number of key innovative technologies, representing exceptional technological challenges, such as cutting-edge 13 tesla superconducting magnets, very compact and ultra-precise superconduc...

  12. Clinical features of dysthyroid optic neuropathy: a European Group on Graves' Orbitopathy (EUGOGO) survey

    Science.gov (United States)

    McKeag, David; Lane, Carol; Lazarus, John H; Baldeschi, Lelio; Boboridis, Kostas; Dickinson, A Jane; Hullo, A Iain; Kahaly, George; Krassas, Gerry; Marcocci, Claudio; Marinò, Michele; Mourits, Maarten P; Nardi, Marco; Neoh, Christopher; Orgiazzi, Jacques; Perros, Petros; Pinchera, Aldo; Pitz, Susanne; Prummel, Mark F; Sartini, Maria S; Wiersinga, Wilmar M

    2007-01-01

    Background This study was performed to determine clinical features of dysthyroid optic neuropathy (DON) across Europe. Methods Forty seven patients with DON presented to seven European centres during one year. Local protocols for thyroid status, ophthalmic examination and further investigation were used. Each eye was classified as having definite, equivocal, or no DON. Results Graves' hyperthyroidism occurred in the majority; 20% had received radioiodine. Of 94 eyes, 55 had definite and 17 equivocal DON. Median Clinical Activity Score was 4/7 but 25% scored 3 or less, indicating severe inflammation was not essential. Best corrected visual acuity was 6/9 (Snellen) or worse in 75% of DON eyes. Colour vision was reduced in 33 eyes, of which all but one had DON. Half of the DON eyes had normal optic disc appearance. In DON eyes proptosis was > 21 mm (significant) in 66% and visual fields abnormal in 71%. Orbital imaging showed apical muscle crowding in 88% of DON patients. Optic nerve stretch and fat prolapse were infrequently reported. Conclusion Patients with DON may not have severe proptosis and orbital inflammation. Optic disc swelling, impaired colour vision and radiological evidence of apical optic nerve compression are the most useful clinical features in this series. PMID:17035276

  13. Final Report of the Working Group on Ecosystem Assessment of Western European shelf Seas (WGEAWESS)

    OpenAIRE

    ICES

    2016-01-01

    The WGEAWESS meeting was held in Belfast, Northern Ireland (UK), on 14–18 March 2016, with nine participants from five countries. The meeting was chaired by Steven Beggs (UK (NI)) and Eider Andonegi (Spain (Basque Country)). This was the final year of the ongoing three-year terms of reference during which the group have had three meetings and one by correspondence in 2014. During the three-year period, the group has made good progress in all ToRs. The initial activity of the group has include...

  14. Fine mapping of breast cancer genome-wide association studies loci in women of African ancestry identifies novel susceptibility markers.

    Science.gov (United States)

    Zheng, Yonglan; Ogundiran, Temidayo O; Falusi, Adeyinka G; Nathanson, Katherine L; John, Esther M; Hennis, Anselm J M; Ambs, Stefan; Domchek, Susan M; Rebbeck, Timothy R; Simon, Michael S; Nemesure, Barbara; Wu, Suh-Yuh; Leske, Maria Cristina; Odetunde, Abayomi; Niu, Qun; Zhang, Jing; Afolabi, Chibuzor; Gamazon, Eric R; Cox, Nancy J; Olopade, Christopher O; Olopade, Olufunmilayo I; Huo, Dezheng

    2013-07-01

    Numerous single nucleotide polymorphisms (SNPs) associated with breast cancer susceptibility have been identified by genome-wide association studies (GWAS). However, these SNPs were primarily discovered and validated in women of European and Asian ancestry. Because linkage disequilibrium is ancestry-dependent and heterogeneous among racial/ethnic populations, we evaluated common genetic variants at 22 GWAS-identified breast cancer susceptibility loci in a pooled sample of 1502 breast cancer cases and 1378 controls of African ancestry. None of the 22 GWAS index SNPs could be validated, challenging the direct generalizability of breast cancer risk variants identified in Caucasians or Asians to other populations. Novel breast cancer risk variants for women of African ancestry were identified in regions including 5p12 (odds ratio [OR] = 1.40, 95% confidence interval [CI] = 1.11-1.76; P = 0.004), 5q11.2 (OR = 1.22, 95% CI = 1.09-1.36; P = 0.00053) and 10p15.1 (OR = 1.22, 95% CI = 1.08-1.38; P = 0.0015). We also found positive association signals in three regions (6q25.1, 10q26.13 and 16q12.1-q12.2) previously confirmed by fine mapping in women of African ancestry. In addition, polygenic model indicated that eight best markers in this study, compared with 22 GWAS-identified SNPs, could better predict breast cancer risk in women of African ancestry (per-allele OR = 1.21, 95% CI = 1.16-1.27; P = 9.7 × 10(-16)). Our results demonstrate that fine mapping is a powerful approach to better characterize the breast cancer risk alleles in diverse populations. Future studies and new GWAS in women of African ancestry hold promise to discover additional variants for breast cancer susceptibility with clinical implications throughout the African diaspora.

  15. Lobbying friends and foes in climate policy: The case of business and environmental interest groups in the European Union

    Energy Technology Data Exchange (ETDEWEB)

    Gullberg, Anne Therese [CICERO, Pb 1129 Blindern, N-0318 Oslo (Norway)

    2008-08-15

    Drawing on two conflicting hypotheses from the theoretical literature on lobbying, I consider the strategies applied by interest groups lobbying to influence climate policy in the European Union (EU). The first hypothesis claims that interest groups lobby their 'friends', decision-makers with positions similar to their own. The second claims that interest groups lobby their 'foes', decision-makers with positions opposed to their own. Using interviews with lobbyists and decision-makers, I demonstrate that in the field of climate policy, interest groups in the EU lobby both friends and foes, but under different conditions. Moreover, I find that the interest groups' motives are not always in line with the theoretical hypotheses. Interest groups lobby their friends on single policy decisions to exchange information, to further a common cause and to exert pressure, and their foes because a foe on one issue might prove to be a friend on another issue. Interest groups direct general lobbying towards both friends and foes. This paper provides a new empirical contribution to a literature that has so far been heavily dominated by studies focusing on lobbying in the US. (author)

  16. Variation in APOL1 Contributes to Ancestry-Level Differences in HDLc-Kidney Function Association

    Directory of Open Access Journals (Sweden)

    Amy Rebecca Bentley

    2012-01-01

    Full Text Available Low levels of high-density cholesterol (HDLc accompany chronic kidney disease, but the association between HDLc and the estimated glomerular filtration rate (eGFR in the general population is unclear. We investigated the HDLc-eGFR association in nondiabetic Han Chinese (HC, n=1100, West Africans (WA, n=1497, and African Americans (AA, n=1539. There were significant differences by ancestry: HDLc was positively associated with eGFR in HC (β=0.13, P<0.0001, but negatively associated among African ancestry populations (WA: −0.19, P<0.0001; AA: −0.09, P=0.02. These differences were also seen in nationally-representative NHANES data (among European Americans: 0.09, P=0.005; among African Americans −0.14, P=0.03. To further explore the findings in African ancestry populations, we investigated the role of an African ancestry-specific nephropathy risk variant, rs73885319, in the gene encoding HDL-associated APOL1. Among AA, an inverse HDLc-eGFR association was observed only with the risk genotype (−0.38 versus 0.001; P=0.03. This interaction was not seen in WA. In summary, counter to expectation, an inverse HDLc-eGFR association was observed among those of African ancestry. Given the APOL1 × HDLc interaction among AA, genetic factors may contribute to this paradoxical association. Notably, these findings suggest that the unexplained mechanism by which APOL1 affects kidney-disease risk may involve HDLc.

  17. Generalizability of Established Prostate Cancer Risk Variants in Men of African Ancestry

    Science.gov (United States)

    Han, Ying; Signorello, Lisa B.; Strom, Sara S.; Kittles, Rick A.; Rybicki, Benjamin A.; Stanford, Janet L.; Goodman, Phyllis J.; Berndt, Sonja I.; Carpten, John; Casey, Graham; Chu, Lisa; Conti, David V.; Rand, Kristin A.; Diver, W. Ryan; Hennis, Anselm JM; John, Esther M.; Kibel, Adam S.; Klein, Eric A.; Kolb, Suzanne; Le Marchand, Loic; Leske, M. Cristina; Murphy, Adam B.; Neslund-Dudas, Christine; Park, Jong Y.; Pettaway, Curtis; Rebbeck, Timothy R.; Gapstur, Susan M.; Zheng, S. Lilly; Wu, Suh-Yuh; Witte, John S.; Xu, Jianfeng; Isaacs, William; Ingles, Sue A.; Hsing, Ann; Easton, Douglas F.; Eeles, Rosalind A.; Schumacher, Fredrick R.; Chanock, Stephen; Nemesure, Barbara; Blot, William J.; Stram, Daniel O.; Henderson, Brian E.; Haiman, Christopher A.

    2014-01-01

    Genome-wide association studies have identified more than eighty risk variants for prostate cancer, mainly in European or Asian populations. The generalizability of these variants in other racial/ethnic populations needs to be understood before the loci can be utilized widely in risk modeling. In this study, we examined 82 previously reported risk variants in 4,853 prostate cancer cases and 4,678 controls of African ancestry. We performed association testing for each variant using logistic regression adjusted for age, study, and global ancestry. Of the 82 known risk variants, 68 (83%) had effects that were directionally consistent in their association with prostate cancer risk and 30 (37%) were significantly associated with risk at p<0.05, with the most statistically significant variants being rs116041037 (p=3.7×10-26) and rs6983561 (p=1.1×10-16) at 8q24, as well as rs7210100 (p=5.4×10-8) at 17q21. By exploring each locus in search of better markers, the number of variants that captured risk in men of African ancestry (p<0.05) increased from 30 (37%) to 44 (54%). An aggregate score comprised of these 44 markers was strongly associated with prostate cancer risk (per-allele odds ratio (OR)=1.12, p=7.3×10-98). In summary, the consistent directions of effects for the vast majority of variants in men of African ancestry indicate common functional alleles that are shared across populations. Further exploration of these susceptibility loci is needed to identify the underlying biologically relevant variants to improve prostate cancer risk modeling in populations of African ancestry. PMID:25044450

  18. Generalizability of established prostate cancer risk variants in men of African ancestry.

    Science.gov (United States)

    Han, Ying; Signorello, Lisa B; Strom, Sara S; Kittles, Rick A; Rybicki, Benjamin A; Stanford, Janet L; Goodman, Phyllis J; Berndt, Sonja I; Carpten, John; Casey, Graham; Chu, Lisa; Conti, David V; Rand, Kristin A; Diver, W Ryan; Hennis, Anselm J M; John, Esther M; Kibel, Adam S; Klein, Eric A; Kolb, Suzanne; Le Marchand, Loic; Leske, M Cristina; Murphy, Adam B; Neslund-Dudas, Christine; Park, Jong Y; Pettaway, Curtis; Rebbeck, Timothy R; Gapstur, Susan M; Zheng, S Lilly; Wu, Suh-Yuh; Witte, John S; Xu, Jianfeng; Isaacs, William; Ingles, Sue A; Hsing, Ann; Easton, Douglas F; Eeles, Rosalind A; Schumacher, Fredrick R; Chanock, Stephen; Nemesure, Barbara; Blot, William J; Stram, Daniel O; Henderson, Brian E; Haiman, Christopher A

    2015-03-01

    Genome-wide association studies have identified more than 80 risk variants for prostate cancer, mainly in European or Asian populations. The generalizability of these variants in other racial/ethnic populations needs to be understood before the loci can be used widely in risk modeling. In our study, we examined 82 previously reported risk variants in 4,853 prostate cancer cases and 4,678 controls of African ancestry. We performed association testing for each variant using logistic regression adjusted for age, study and global ancestry. Of the 82 known risk variants, 68 (83%) had effects that were directionally consistent in their association with prostate cancer risk and 30 (37%) were significantly associated with risk at p < 0.05, with the most statistically significant variants being rs116041037 (p = 3.7 × 10(-26) ) and rs6983561 (p = 1.1 × 10(-16) ) at 8q24, as well as rs7210100 (p = 5.4 × 10(-8) ) at 17q21. By exploring each locus in search of better markers, the number of variants that captured risk in men of African ancestry (p < 0.05) increased from 30 (37%) to 44 (54%). An aggregate score comprised of these 44 markers was strongly associated with prostate cancer risk [per-allele odds ratio (OR) = 1.12, p = 7.3 × 10(-98) ]. In summary, the consistent directions of effects for the vast majority of variants in men of African ancestry indicate common functional alleles that are shared across populations. Further exploration of these susceptibility loci is needed to identify the underlying biologically relevant variants to improve prostate cancer risk modeling in populations of African ancestry. © 2014 UICC.

  19. Resolving the Etiology of Atopic Disorders by Genetic Analysis of Racial Ancestry

    Science.gov (United States)

    Gupta, Jayanta; Johansson, Elisabet; Bernstein, Jonathan A.; Chakraborty, Ranajit; Khurana Hershey, Gurjit K.; Rothenberg, Marc E.; Mersha, Tesfaye B.

    2016-01-01

    Atopic dermatitis (AD), food allergy (FA), allergic rhinitis (AR) and asthma are common atopic disorders of complex etiology. The frequently observed “atopic march” from early AD to asthma and/or AR later in life as well as the extensive comorbidity of atopic disorders, suggests common causal mechanisms in addition to distinct ones. Indeed, both disease-specific and shared genomic regions exist for atopic disorders. Their prevalence also varies among races; for example, AD and asthma have a higher prevalence in African-Americans when compared to European-Americans. Whether this disparity stems from true genetic or race-specific environmental risk factors or both is unknown. Thus far, the majority of the genetic studies on atopic diseases have utilized populations of European ancestry, limiting their generalizability. Large cohort initiatives and new analytic methods such as admixture mapping are currently being employed to address this knowledge gap. Here we discuss the unique and shared genetic risk factors for atopic disorders in the context of ancestry variations, and the promise of high-throughput “-omics” based systems biology approach in providing greater insight to deconstruct into their genetic and non-genetic etiologies. Future research will also focus on deep phenotyping and genotyping of diverse racial ancestry, gene-environment, and gene-gene interactions. PMID:27297995

  20. Cardiovascular considerations of attention deficit hyperactivity disorder medications: a report of the European Network on Hyperactivity Disorders work group, European Attention Deficit Hyperactivity Disorder Guidelines Group on attention deficit hyperactivity disorder drug safety meeting.

    Science.gov (United States)

    Hamilton, Robert M; Rosenthal, Eric; Hulpke-Wette, Martin; Graham, John G I; Sergeant, Joseph

    2012-02-01

    Regulatory decisions regarding attention deficit hyperactivity disorder drug licensing and labelling, along with recent statements from professional associations, raise questions of practice regarding the evaluation and treatment of patients with attention deficit hyperactivity disorder. To address these issues for the European community, the European Network for Hyperkinetic Disorders, through its European Attention Deficit Hyperactivity Disorder Guidelines Group, organised a meeting between attention deficit hyperactivity disorder specialists, paediatric cardiovascular specialists, and representatives of the major market authorisation holders for attention deficit hyperactivity disorder medications. This manuscript represents their consensus on cardiovascular aspects of attention deficit hyperactivity disorder medications. Although sudden death has been identified in multiple young individuals on attention deficit hyperactivity disorder medication causing regulatory concern, when analysed for exposure using currently available data, sudden death does not appear to exceed that of the general population. There is no current evidence to suggest an incremental benefit to electrocardiography assessment of the general attention deficit hyperactivity disorder patient. Congenital heart disease patients have an increased prevalence of attention deficit hyperactivity disorder, and can benefit from attention deficit hyperactivity disorder therapies, including medication. The attention deficit hyperactivity disorder specialist is the appropriate individual to evaluate benefit and risk and recommend therapy in all patients, although discussion with a heart specialist is reasonable for congenital heart disease patients. For attention deficit hyperactivity disorder patients with suspected heart disease or risk factor/s for sudden death, assessment by a heart specialist is recommended, as would also be the case for a non-attention deficit hyperactivity disorder patient. The

  1. Genetic variants demonstrating flip-flop phenomenon and breast cancer risk prediction among women of African ancestry.

    Science.gov (United States)

    Wang, Shengfeng; Qian, Frank; Zheng, Yonglan; Ogundiran, Temidayo; Ojengbede, Oladosu; Zheng, Wei; Blot, William; Nathanson, Katherine L; Hennis, Anselm; Nemesure, Barbara; Ambs, Stefan; Olopade, Olufunmilayo I; Huo, Dezheng

    2018-01-04

    Few studies have evaluated the performance of existing breast cancer risk prediction models among women of African ancestry. In replication studies of genetic variants, a change in direction of the risk association is a common phenomenon. Termed flip-flop, it means that a variant is risk factor in one population but protective in another, affecting the performance of risk prediction models. We used data from the genome-wide association study (GWAS) of breast cancer in the African diaspora (The Root consortium), which included 3686 participants of African ancestry from Nigeria, USA, and Barbados. Polygenic risk scores (PRSs) were constructed from the published odds ratios (ORs) of four sets of susceptibility loci for breast cancer. Discrimination capacity was measured using the area under the receiver operating characteristic curve (AUC). Flip-flop phenomenon was observed among 30~40% of variants across studies. Using the 34 variants with consistent directionality among previous studies, we constructed a PRS with AUC of 0.531 (95% confidence interval [CI]: 0.512-0.550), which is similar to the PRS using 93 variants and ORs from European ancestry populations (AUC = 0.525, 95% CI: 0.506-0.544). Additionally, we found the 34-variant PRS has good discriminative accuracy in women with family history of breast cancer (AUC = 0.586, 95% CI: 0.532-0.640). We found that PRS based on variants identified from prior GWASs conducted in women of European and Asian ancestries did not provide a comparable degree of risk stratification for women of African ancestry. Further large-scale fine-mapping studies in African ancestry populations are desirable to discover population-specific genetic risk variants.

  2. Global divergence of the human follicle mite Demodex folliculorum: Persistent associations between host ancestry and mite lineages.

    Science.gov (United States)

    Palopoli, Michael F; Fergus, Daniel J; Minot, Samuel; Pei, Dorothy T; Simison, W Brian; Fernandez-Silva, Iria; Thoemmes, Megan S; Dunn, Robert R; Trautwein, Michelle

    2015-12-29

    Microscopic mites of the genus Demodex live within the hair follicles of mammals and are ubiquitous symbionts of humans, but little molecular work has been done to understand their genetic diversity or transmission. Here we sampled mite DNA from 70 human hosts of diverse geographic ancestries and analyzed 241 sequences from the mitochondrial genome of the species Demodex folliculorum. Phylogenetic analyses recovered multiple deep lineages including a globally distributed lineage common among hosts of European ancestry and three lineages that primarily include hosts of Asian, African, and Latin American ancestry. To a great extent, the ancestral geography of hosts predicted the lineages of mites found on them; 27% of the total molecular variance segregated according to the regional ancestries of hosts. We found that D. folliculorum populations are stable on an individual over the course of years and that some Asian and African American hosts maintain specific mite lineages over the course of years or generations outside their geographic region of birth or ancestry. D. folliculorum haplotypes were much more likely to be shared within families and between spouses than between unrelated individuals, indicating that transmission requires close contact. Dating analyses indicated that D. folliculorum origins may predate modern humans. Overall, D. folliculorum evolution reflects ancient human population divergences, is consistent with an out-of-Africa dispersal hypothesis, and presents an excellent model system for further understanding the history of human movement.

  3. Global divergence of the human follicle mite Demodex folliculorum: Persistent associations between host ancestry and mite lineages

    Science.gov (United States)

    Palopoli, Michael F.; Fergus, Daniel J.; Minot, Samuel; Pei, Dorothy T.; Simison, W. Brian; Fernandez-Silva, Iria; Thoemmes, Megan S.; Dunn, Robert R.; Trautwein, Michelle

    2015-01-01

    Microscopic mites of the genus Demodex live within the hair follicles of mammals and are ubiquitous symbionts of humans, but little molecular work has been done to understand their genetic diversity or transmission. Here we sampled mite DNA from 70 human hosts of diverse geographic ancestries and analyzed 241 sequences from the mitochondrial genome of the species Demodex folliculorum. Phylogenetic analyses recovered multiple deep lineages including a globally distributed lineage common among hosts of European ancestry and three lineages that primarily include hosts of Asian, African, and Latin American ancestry. To a great extent, the ancestral geography of hosts predicted the lineages of mites found on them; 27% of the total molecular variance segregated according to the regional ancestries of hosts. We found that D. folliculorum populations are stable on an individual over the course of years and that some Asian and African American hosts maintain specific mite lineages over the course of years or generations outside their geographic region of birth or ancestry. D. folliculorum haplotypes were much more likely to be shared within families and between spouses than between unrelated individuals, indicating that transmission requires close contact. Dating analyses indicated that D. folliculorum origins may predate modern humans. Overall, D. folliculorum evolution reflects ancient human population divergences, is consistent with an out-of-Africa dispersal hypothesis, and presents an excellent model system for further understanding the history of human movement. PMID:26668374

  4. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

    National Research Council Canada - National Science Library

    Charron, Philippe; Arad, Michael; Arbustini, Eloisa; Basso, Cristina; Bilinska, Zofia; Elliott, Perry; Helio, Tiina; Keren, Ane; McKenna, William J; Monserrat, Lorenzo; Pankuweit, Sabine; Perrot, Aneas; Rapezzi, Claudio; Ristic, Arsen; Seggewiss, Hubert; van Langen, Irene; Tavazzi, Luigi

    2010-01-01

    .... The aims of this position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases are to review the general issues related to genetic counselling, family...

  5. European Education Thesaurus: Meeting of the Thesaurus Management Group (Budapest, Hungry, November 6-8, 1996).

    Science.gov (United States)

    EURYDICE European Unit, Brussels (Belgium).

    This report offers the agenda for a meeting in Budapest in November 1996 of the Thesaurus Management Group of the Council of Europe. The report includes a list of participants, a report on previous meetings, information on availability of the 1991 version of the thesaurus and subsequent addenda, information on new versions to be created, and a…

  6. Grupos tróficos de peixes demersais da plataforma continental interna de Ubatuba, Brasil: I. Chondrichthyes Throphic groups of demersal fish community from the continental shelf: Ubatuba, Brazil. I. Chrondrichthyes

    Directory of Open Access Journals (Sweden)

    Lucy Satiko Hashimoto Soares

    1992-01-01

    Full Text Available Com o objetivo de detectar grupos tróficos, foram analisadas amostras de conteúdos estomacais de sete espécies de peixes cartilaginosos. Os exemplares foram coletados no período de Outubro/85 a Julho/87 na plataforma interna de Ubatuba, SP, Brasil (da costa, até a isóbata de 50 m. A importância dos itens alimentares foi analisada através da freqüência numérica (FN e da freqüência de ocorrência (FO. As espécies foram agrupadas em três grupos distintos: Piscívoros: Squalus cubensis; comedores de peixes e crustáceos bentônicos: Raja castelnaui, Raja cyclophora, Raja agassizi; comedores de invertebrados bentônicos: Psammobatis glansdissimilis, Rhinobatos horkelii, Zapteryx brevirostris.Stomach contents of seven cartilaginous fish species were analysed with the aim to detect trophic groups. Sampling was effectuated between October/85 and July/87 off the coast of Ubatuba (São Paulo, Brazil in waters up 50 m depth. The relative importance of different components of the diet was expressed as a percentage frequency of occurrence and percentage number. The seven species were grouped in: fish feeders - Squalus cubensis; benthonic crustacean and fish feeders - Raja castelnaui, Raja cyclophora, Raja agassizi; benthonic invertebrate feeders - Rhinobatos horkelii, Zapteryx brevirostris, Psammobatis glansdissimilis.

  7. Revision of the SNPforID 34-plex forensic ancestry test: Assay enhancements, standard reference sample genotypes and extended population studies.

    Science.gov (United States)

    Fondevila, M; Phillips, C; Santos, C; Freire Aradas, A; Vallone, P M; Butler, J M; Lareu, M V; Carracedo, A

    2013-01-01

    A revision of an established 34 SNP forensic ancestry test has been made by swapping the under-performing rs727811 component SNP with the highly informative rs3827760 that shows a near-fixed East Asian specific allele. We collated SNP variability data for the revised SNP set in 66 reference populations from 1000 Genomes and HGDP-CEPH panels and used this as reference data to analyse four U.S. populations showing a range of admixture patterns. The U.S. Hispanics sample in particular displayed heterogeneous values of co-ancestry between European, Native American and African contributors, likely to reflect in part, the way this disparate group is defined using cultural as well as population genetic parameters. The genotyping of over 700 U.S. population samples also provided the opportunity to thoroughly gauge peak mobility variation and peak height ratios observed from routine use of the single base extension chemistry of the 34-plex test. Finally, the genotyping of the widely used DNA profiling Standard Reference Material samples plus other control DNAs completes the audit of the 34-plex assay to allow forensic practitioners to apply this test more readily in their own laboratories. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  8. Extending trust to immigrants: Generalized trust, cross-group friendship and anti-immigrant sentiments in 21 European societies.

    Directory of Open Access Journals (Sweden)

    Meta van der Linden

    Full Text Available The aim of this study is twofold. First, we expand on the literature by testing whether generalized trust is negatively related to anti-immigrant sentiments in Europe. Second, we examine to what extent the relation between generalized trust and anti-immigrant sentiments is dependent upon cross-group friendships. We apply multilevel linear regression modeling to representative survey data enriched with levels of ethnic diversity covering 21 European countries. Results show that both generalized trust and cross-group friendship are negatively related to anti-immigrant sentiments. However, there is a negligible positive relation between generalized trust and cross-group friendship (r = .10, and we can clearly observe that they operate independently from one another. Hence, trusting actors are not more likely to form more cross-group friendships, and cross-group friendship do not lead to the development of more generalized trust. Instead, the findings show that generalized trust leads immigrants too to be included in the radius of trusted others and, as a consequence, the benign effects of generalized trust apply to them as well. We conclude that the strength of generalized trust is a form of generalization, beyond the confines of individual variations in intergroup experiences.

  9. Extending trust to immigrants: Generalized trust, cross-group friendship and anti-immigrant sentiments in 21 European societies.

    Science.gov (United States)

    van der Linden, Meta; Hooghe, Marc; de Vroome, Thomas; Van Laar, Colette

    2017-01-01

    The aim of this study is twofold. First, we expand on the literature by testing whether generalized trust is negatively related to anti-immigrant sentiments in Europe. Second, we examine to what extent the relation between generalized trust and anti-immigrant sentiments is dependent upon cross-group friendships. We apply multilevel linear regression modeling to representative survey data enriched with levels of ethnic diversity covering 21 European countries. Results show that both generalized trust and cross-group friendship are negatively related to anti-immigrant sentiments. However, there is a negligible positive relation between generalized trust and cross-group friendship (r = .10), and we can clearly observe that they operate independently from one another. Hence, trusting actors are not more likely to form more cross-group friendships, and cross-group friendship do not lead to the development of more generalized trust. Instead, the findings show that generalized trust leads immigrants too to be included in the radius of trusted others and, as a consequence, the benign effects of generalized trust apply to them as well. We conclude that the strength of generalized trust is a form of generalization, beyond the confines of individual variations in intergroup experiences.

  10. Group dynamics during the EXEMSI isolation study. Experimental Campaign for the European Manned Space Infrastructure.

    Science.gov (United States)

    Cazes, C; Rosnet, E; Bachelard, C; Le Scanff, C; Rivolier, J

    1996-01-01

    The objectives of this study were to investigate the social behavior, interrelations, cohesion, efficiency and team formation of the crew during 60 days of isolation and confinement, to make a critical comparison of a variety of test methods used for this purpose and to formulate recommendations for their applications in selection, training and support for future studies of this kind. The study consisted of three phases: (1) the pre-isolation period, in which initial individual and group assessment were made to understand the motivation, characteristics, and styles of the crew members, the state of the crew, and to make a prognosis for the behavior of the group and its members, (2) the isolation period, with tests and observations to follow and analyze behavior and group dynamics of the crew, and to detect manifestations of stress, and (3) the post-isolation period with final assessment and debriefing. During these three periods individual and group tests were carried out. Direct methods, questionnaires and tests, as well as indirect methods, observations of behavior, were used. These had cognitive, affective-emotional and social components; they were quantitative, qualitative or a combination. Before isolation the crew members expressed strong confidence in the team and in their own personal capability. The leadership of the Commander seemed uncontested. Crew functioning during this period was conflict-free, but was structured in a rather rigid and defensive way (isolation of affects, denial of anxiety). Apparently, the members strongly needed to present a good image image of themselves. The relatively short period of the experiment, and the absence of real risk suggested that the crew would be able to maintain their cohesion, but in a real spaceflight situation this behavior could be inadequate and even dangerous. The pre-isolation prognosis for crew behavior during isolation was validated to a large extent. During isolation there were no clear manifestations of

  11. Perflubron emulsion delays blood transfusions in orthopedic surgery. European Perflubron Emulsion Study Group.

    Science.gov (United States)

    Spahn, D R; van Brempt, R; Theilmeier, G; Reibold, J P; Welte, M; Heinzerling, H; Birck, K M; Keipert, P E; Messmer, K; Heinzerling, H; Birck, K M; Keipert, P E; Messmer, K

    1999-11-01

    Fluorocarbon emulsions have been proposed as temporary artificial oxygen carriers. The aim of the present study is to compare the effectiveness of perflubron emulsion with the effectiveness of autologous blood or colloid infusion for reversal of physiologic transfusion triggers. A multinational, multicenter, randomized, controlled, single-blind, parallel group study was performed in 147 orthopedic patients. Patients underwent acute normovolemic hemodilution with colloid to a target hemoglobin of 9 g/dl with an inspiratory oxygen fraction (FIO2) of 0.40. Patients were then randomized into one of four treatment groups after having reached any of the protocol-defined transfusion triggers including tachycardia (heart rate > 125% of posthemodilution rate or > 110 bpm), hypotension (mean arterial pressure 150% of posthemodilution level) or decreased mixed venous oxygen partial pressure (PVO2; emulsion with colloid (total = 450 ml) at FIO2 = 1.0; and 1.8 g/kg perflubron emulsion with colloid (total = 450 ml) at FIO2 = 1.0. The primary endpoint was duration of transfusion-trigger reversal. A secondary end-point was percentage of transfusion-trigger reversal. Perflubron emulsion was well tolerated with no serious adverse event attributed to drug treatment. Duration of reversal was longest in the 1.8 g/kg perflubron group (median, 80 min; 95% confidence interval, 60-100 min; P = 0.014 vs. autologous blood, P emulsion (1.8 g/kg) combined with 100% oxygen ventilation is more effective than autologous blood or colloid infusion in reversing physiologic transfusion triggers.

  12. Polygenic risk assessment reveals pleiotropy between sarcoidosis and inflammatory disorders in the context of genetic ancestry.

    Science.gov (United States)

    Lareau, C A; DeWeese, C F; Adrianto, I; Lessard, C J; Gaffney, P M; Iannuzzi, M C; Rybicki, B A; Levin, A M; Montgomery, C G

    2017-03-01

    Sarcoidosis is a complex disease of unknown etiology characterized by the presence of granulomatous inflammation. Though various immune system pathways have been implicated in disease, the relationship between the genetic determinants of sarcoidosis and other inflammatory disorders has not been characterized. Herein, we examined the degree of genetic pleiotropy common to sarcoidosis and other inflammatory disorders to identify shared pathways and disease systems pertinent to sarcoidosis onset. To achieve this, we quantify the association of common variant polygenic risk scores from nine complex inflammatory disorders with sarcoidosis risk. Enrichment analyses of genes implicated in pleiotropic associations were further used to elucidate candidate pathways. In European-Americans, we identify significant pleiotropy between risk of sarcoidosis and risk of asthma (R2=2.03%; P=8.89 × 10-9), celiac disease (R2=2.03%; P=8.21 × 10-9), primary biliary cirrhosis (R2=2.43%; P=2.01 × 10-10) and rheumatoid arthritis (R2=4.32%; P=2.50 × 10-17). These associations validate in African Americans only after accounting for the proportion of genome-wide European ancestry, where we demonstrate similar effects of polygenic risk for African-Americans with the highest levels of European ancestry. Variants and genes implicated in European-American pleiotropic associations were enriched for pathways involving interleukin-12, interleukin-27 and cell adhesion molecules, corroborating the hypothesized immunopathogenesis of disease.

  13. Influence of language and ancestry on genetic structure of contiguous populations: A microsatellite based study on populations of Orissa

    Directory of Open Access Journals (Sweden)

    Kashyap VK

    2005-02-01

    Full Text Available Abstract Background We have examined genetic diversity at fifteen autosomal microsatellite loci in seven predominant populations of Orissa to decipher whether populations inhabiting the same geographic region can be differentiated on the basis of language or ancestry. The studied populations have diverse historical accounts of their origin, belong to two major ethnic groups and different linguistic families. Caucasoid caste populations are speakers of Indo-European language and comprise Brahmins, Khandayat, Karan and Gope, while the three Australoid tribal populations include two Austric speakers: Juang and Saora and a Dravidian speaking population, Paroja. These divergent groups provide a varied substratum for understanding variation of genetic patterns in a geographical area resulting from differential admixture between migrants groups and aboriginals, and the influence of this admixture on population stratification. Results The allele distribution pattern showed uniformity in the studied groups with approximately 81% genetic variability within populations. The coefficient of gene differentiation was found to be significantly higher in tribes (0.014 than caste groups (0.004. Genetic variance between the groups was 0.34% in both ethnic and linguistic clusters and statistically significant only in the ethnic apportionment. Although the populations were genetically close (FST = 0.010, the contemporary caste and tribal groups formed distinct clusters in both Principal-Component plot and Neighbor-Joining tree. In the phylogenetic tree, the Orissa Brahmins showed close affinity to populations of North India, while Khandayat and Gope clustered with the tribal groups, suggesting a possibility of their origin from indigenous people. Conclusions The extent of genetic differentiation in the contemporary caste and tribal groups of Orissa is highly significant and constitutes two distinct genetic clusters. Based on our observations, we suggest that since

  14. Designing Learning Outcomes for Handoff Teaching of Medical Students Using Group Concept Mapping: Findings From a Multicountry European Study.

    Science.gov (United States)

    Hynes, Helen; Stoyanov, Slavi; Drachsler, Hendrik; Maher, Bridget; Orrego, Carola; Stieger, Lina; Druener, Susanne; Sopka, Sasa; Schröder, Hanna; Henn, Patrick

    2015-07-01

    To develop, by consultation with an expert group, agreed learning outcomes for the teaching of handoff to medical students using group concept mapping. In 2013, the authors used group concept mapping, a structured mixed-methods approach, applying both quantitative and qualitative measures to identify an expert group's common understanding about the learning outcomes for training medical students in handoff. Participants from four European countries generated and sorted ideas, then rated generated themes by importance and difficulty to achieve. The research team applied multidimensional scaling and hierarchical cluster analysis to analyze the themes. Of 127 experts invited, 45 contributed to the brainstorming session. Twenty-two of the 45 (48%) completed pruning, sorting, and rating phases. They identified 10 themes with which to select learning outcomes and operationally define them to form a basis for a curriculum on handoff training. The themes "Being able to perform handoff accurately" and "Demonstrate proficiency in handoff in workplace" were rated as most important. "Demonstrate proficiency in handoff in simulation" and "Engage with colleagues, patients, and carers" were rated most difficult to achieve. The study identified expert consensus for designing learning outcomes for handoff training for medical students. Those outcomes considered most important were among those considered most difficult to achieve. There is an urgent need to address the preparation of newly qualified doctors to be proficient in handoff at the point of graduation; otherwise, this is a latent error within health care systems. This is a first step in this process.

  15. Conservative strategy in infantile fibrosarcoma is possible: The European paediatric Soft tissue sarcoma Study Group experience.

    Science.gov (United States)

    Orbach, Daniel; Brennan, Bernadette; De Paoli, Angela; Gallego, Soledad; Mudry, Peter; Francotte, Nadine; van Noesel, Max; Kelsey, Anna; Alaggio, Rita; Ranchère, Dominique; De Salvo, Gian Luca; Casanova, Michela; Bergeron, Christophe; Merks, Johannes H M; Jenney, Meriel; Stevens, Michael C G; Bisogno, Gianni; Ferrari, Andrea

    2016-04-01

    Infantile fibrosarcoma (IFS) is a very rare disease occurring in young infants characterised by a high local aggressiveness but overall with a favourable survival. To try to reduce the total burden of therapy, the European pediatric Soft tissue sarcoma Study Group has developed conservative therapeutic recommendations according to initial resectability. Between 2005 and 2012, children with localised IFS were prospectively registered. Initial surgery was suggested only if possible without mutilation. Patients with initial complete (IRS-group I/R0) or microscopic incomplete (group II/R1) resection had no further therapy. Patients with initial inoperable tumour (group III/R2) received first-line vincristine-actinomycin-D chemotherapy (VA). Delayed conservative surgery was planned after tumour reduction. Aggressive local therapy (mutilating surgery or external radiotherapy) was discouraged. A total of 50 infants (median age 1.4 months), were included in the study. ETV6-NTRK3 transcript was present in 87.2% of patients where investigation was performed. According to initial surgery, 11 patients were classified as group I, 8 as group II and 31 as group III. VA chemotherapy was first delivered to 25 children with IRS-III/R2 and one with IRS-II/R1 disease. Response rate to VA was 68.0%. Mutilating surgery was only performed in three cases. After a median follow-up of 4.7 years (range 1.9-9.0), 3-year event-free survival and overall survival were respectively 84.0% (95% confidence interval [CI] 70.5-91.7) and 94.0% (95% CI 82.5-98.0). Conservative therapy is possible in IFS as only three children required mutilating surgery, and alkylating or anthracycline based chemotherapy was avoided in 71.0% of patients needing chemotherapy. VA regimen should be first line therapy in order to reduce long term effects. Copyright © 2016 Elsevier Ltd. All rights reserved.

  16. Inferring ancestry from population genomic data and its applications.

    Directory of Open Access Journals (Sweden)

    Badri ePadhukasahasram

    2014-07-01

    Full Text Available Ancestry inference is a frequently encountered problem and has many applications such as forensic analyses, genetic association studies and personal genomics. The main goal of ancestry inference is to identify an individual’s population of origin based on our knowledge of natural populations. Because both self-reported ancestry in humans or the sampling location of an organism can be inaccurate for this purpose, the use of genetic markers can facilitate accurate and reliable inference of an individual’s ancestral origins. At a higher level, there are two different paradigms in ancestry inference: global ancestry inference which tries to compute the genome wide average of the population contributions and local ancestry inference which tries to identify the regional ancestry of a genomic segment. In this mini review, I describe the numerous approaches that are currently available for both kinds of ancestry inference from population genomic datasets. I first describe the general ideas underlying such inference methods and their relationship to one another. Then, I describe practical applications in which inference of ancestry has proven useful. Lastly, I discuss challenges and directions for future research work in this area.

  17. LASER server: ancestry tracing with genotypes or sequence reads.

    Science.gov (United States)

    Taliun, Daniel; Chothani, Sonia P; Schönherr, Sebastian; Forer, Lukas; Boehnke, Michael; Abecasis, Gonçalo R; Wang, Chaolong

    2017-07-01

    To enable direct comparison of ancestry background in different studies, we developed LASER to estimate individual ancestry by placing either sezquenced or genotyped samples in a common ancestry space, regardless of the sequencing strategy or genotyping array used to characterize each sample. Here we describe the LASER server to facilitate application of the method to a wide range of genetic studies. The server provides genetic ancestry estimation for different geographic regions and user-friendly interactive visualization of the results. The LASER server is freely accessible at http://laser.sph.umich.edu/. dtaliun@umich.edu or wangcl@gis.a-star.edu.sg. Supplementary data are available at Bioinformatics online.

  18. Health and genetic ancestry testing: time to bridge the gap.

    Science.gov (United States)

    Smart, Andrew; Bolnick, Deborah A; Tutton, Richard

    2017-01-09

    It is becoming increasingly difficult to keep information about genetic ancestry separate from information about health, and consumers of genetic ancestry tests are becoming more aware of the potential health risks associated with particular ancestral lineages. Because some of the proposed associations have received little attention from oversight agencies and professional genetic associations, scientific developments are currently outpacing governance regimes for consumer genetic testing. We highlight the recent and unremarked upon emergence of biomedical studies linking markers of genetic ancestry to disease risks, and show that this body of scientific research is becoming part of public discourse connecting ancestry and health. For instance, data on genome-wide ancestry informative markers are being used to assess health risks, and we document over 100 biomedical research articles that propose associations between mitochondrial DNA and Y chromosome markers of genetic ancestry and a wide variety of disease risks. Taking as an example an association between coronary heart disease and British men belonging to Y chromosome haplogroup I, we show how this science was translated into mainstream and online media, and how it circulates among consumers of genetic tests for ancestry. We find wide variations in how the science is interpreted, which suggests the potential for confusion or misunderstanding. We recommend that stakeholders involved in creating and using estimates of genetic ancestry reconsider their policies for communicating with each other and with the public about the health implications of ancestry information.

  19. Assessment and reduction of comet assay variation in relation to DNA damage: studies from the European Comet Assay Validation Group

    DEFF Research Database (Denmark)

    Møller, Peter; Möller, Lennart; Godschalk, Roger W L

    2010-01-01

    The alkaline single cell gel electrophoresis (comet) assay has become a widely used method for the detection of DNA damage and repair in cells and tissues. Still, it has been difficult to compare results from different investigators because of differences in assay conditions and because the data...... are reported in different units. The European Comet Assay Validation Group (ECVAG) was established for the purpose of validation of the comet assay with respect to measures of DNA damage formation and its repair. The results from this inter-laboratory validation trail showed a large variation in measured level...... reliability for the measurement of DNA damage by the comet assay but there is still a need for further validation to reduce both assay and inter-laboratory variation....

  20. Fault2SHA- A European Working group to link faults and Probabilistic Seismic Hazard Assessment communities in Europe

    Science.gov (United States)

    Scotti, Oona; Peruzza, Laura

    2016-04-01

    The key questions we ask are: What is the best strategy to fill in the gap in knowledge and know-how in Europe when considering faults in seismic hazard assessments? Are field geologists providing the relevant information for seismic hazard assessment? Are seismic hazard analysts interpreting field data appropriately? Is the full range of uncertainties associated with the characterization of faults correctly understood and propagated in the computations? How can fault-modellers contribute to a better representation of the long-term behaviour of fault-networks in seismic hazard studies? Providing answers to these questions is fundamental, in order to reduce the consequences of future earthquakes and improve the reliability of seismic hazard assessments. An informal working group was thus created at a meeting in Paris in November 2014, partly financed by the Institute of Radioprotection and Nuclear Safety, with the aim to motivate exchanges between field geologists, fault modellers and seismic hazard practitioners. A variety of approaches were presented at the meeting and a clear gap emerged between some field geologists, that are not necessarily familiar with probabilistic seismic hazard assessment methods and needs and practitioners that do not necessarily propagate the "full" uncertainty associated with the characterization of faults. The group thus decided to meet again a year later in Chieti (Italy), to share concepts and ideas through a specific exercise on a test case study. Some solutions emerged but many problems of seismic source characterizations with people working in the field as well as with people tackling models of interacting faults remained. Now, in Wien, we want to open the group and launch a call for the European community at large to contribute to the discussion. The 2016 EGU session Fault2SHA is motivated by such an urgency to increase the number of round tables on this topic and debate on the peculiarities of using faults in seismic hazard

  1. The FTO A/T Polymorphism and Elite Athletic Performance: A Study Involving Three Groups of European Athletes

    Science.gov (United States)

    Eynon, Nir; Nasibulina, Emiliya S.; Banting, Lauren K.; Cieszczyk, Pawel; Maciejewska-Karlowska, Agnieszka; Sawczuk, Marek; Bondareva, Elvira A.; Shagimardanova, Roza R.; Raz, Maytal; Sharon, Yael; Williams, Alun G.; Ahmetov, Ildus I.

    2013-01-01

    Objective The FTO A/T polymorphism (rs9939609) is a strong candidate to influence obesity-related traits. Elite athletes from many different sporting disciplines are characterized by low body fat. Therefore, the aim of this study was to assess whether athletic status is associated with the FTO A/T polymorphism. Subjects and Methods A large cohort of European Caucasians from Poland, Russia and Spain were tested to examine the association between FTO A/T polymorphism (rs9939609) and athletic status. A total of 551 athletes were divided by type of sport (endurance athletes, n = 266 vs. sprint/power athletes, n = 285) as well as by level of competition (elite-level vs. national-level). The control group consisted of 1,416 ethnically-matched, non-athletic participants, all Europeans. Multinomial logistic regression analyses were conducted to assess the association between FTO A/T genotypes and athletic status/competition level. Results There were no significantly greater/lesser odds of harbouring any type of genotype when comparing across athletic status (endurance athletes, sprint/power athletes or control participants). These effects were observed after controlling for sex and nationality. Furthermore, no significantly greater/lesser odds ratios were observed for any of the genotypes in respect to the level of competition (elite-level vs. national-level). Conclusion The FTO A/T polymorphism is not associated with elite athletic status in the largest group of elite athletes studied to date. Large collaborations and data sharing between researchers, as presented here, are strongly recommended to enhance the research in the field of exercise genomics. PMID:23573268

  2. Timeframe of speciation inferred from secondary contact zones in the European tree frog radiation (Hyla arborea group).

    Science.gov (United States)

    Dufresnes, Christophe; Brelsford, Alan; Crnobrnja-Isailović, Jelka; Tzankov, Nikolay; Lymberakis, Petros; Perrin, Nicolas

    2015-08-08

    Hybridization between incipient species is expected to become progressively limited as their genetic divergence increases and reproductive isolation proceeds. Amphibian radiations and their secondary contact zones are useful models to infer the timeframes of speciation, but empirical data from natural systems remains extremely scarce. Here we follow this approach in the European radiation of tree frogs (Hyla arborea group). We investigated a natural hybrid zone between two lineages (Hyla arborea and Hyla orientalis) of Mio-Pliocene divergence (~5 My) for comparison with other hybrid systems from this group. We found concordant geographic distributions of nuclear and mitochondrial gene pools, and replicated narrow transitions (~30 km) across two independent transects, indicating an advanced state of reproductive isolation and potential local barriers to dispersal. This result parallels the situation between H. arborea and H. intermedia, which share the same amount of divergence with H. orientalis. In contrast, younger lineages show much stronger admixture at secondary contacts. Our findings corroborate the negative relationship between hybridizability and divergence time in European tree frogs, where 5 My are necessary to achieve almost complete reproductive isolation. Speciation seems to progress homogeneously in this radiation, and might thus be driven by gradual genome-wide changes rather than single speciation genes. However, the timescale differs greatly from that of other well-studied amphibians. General assumptions on the time necessary for speciation based on evidence from unrelated taxa may thus be unreliable. In contrast, comparative hybrid zone analyses within single radiations such as our case study are useful to appreciate the advance of speciation in space and time.

  3. Symptom profiles and explanatory models of first-episode psychosis in African-, Caribbean- and European-origin groups in Ontario.

    Science.gov (United States)

    Maraj, Anika; Anderson, Kelly K; Flora, Nina; Ferrari, Manuela; Archie, Suzanne; McKenzie, Kwame J

    2017-04-01

    To assess variability in symptom presentation and explanatory models of psychosis for people from different ethnic groups. Clients with first-episode psychosis (n = 171) who identified as black African, black Caribbean or white European were recruited from early intervention programmes in Toronto and Hamilton. We compared results by ethnic group for symptom profiles and explanatory models of illness. Clients of black Caribbean origin had a lower odds of reporting that they were speaking incomprehensibly (OR = 0.36; 95% CI: 0.14-0.90) and black African clients had a greater odds of reporting persistent aches or pains (OR = 2.92; 95% CI: 1.32-6.50). Black African clients had a lower odds of attributing the cause of psychosis to hereditary factors (OR = 0.41; 95% CI: 0.19-0.89) or to substance abuse (OR = 0.29; 95% CI: 0.13-0.67) and had a lower odds of assigning responsibility for their illness to themselves (OR = 0.41; 95% CI: 0.19-0.89). Understanding the differences in illness models for ethnic minority groups may help improve the cultural competence of mental health services. © 2015 Wiley Publishing Asia Pty Ltd.

  4. Disparate rates of persistent smoking and drug use during pregnancy of women of Hawaiian ancestry.

    Science.gov (United States)

    Wright, Tricia E; Tam, Elizabeth

    2010-01-01

    Significant disparity in smoking rates has been previously reported in pregnant and non-pregnant women of Native Hawaiian ancestry. Disparities in drug use rates have also been reported in non-pregnant women of Native Hawaiian ancestry. We undertook this study to compare rates of smoking and drug use during pregnancy among women in Hawaii to see if these differences are associated with disparities in pregnancy complications among Native Hawaiian women. Women were enrolled in the Pacific Research Center on Early Human Development study from July 2007 to January 2008, according to approved protocols. Persistent smoking was defined as self-reported smoking within 1 week of admission for labor. Drug use data was assessed by self-report, or if available, toxicology tests at the time of labor. There were 868 women enrolled in the study during this period. Women of Hawaiian/part-Hawaiian ancestry comprised 22% of the study population. Rates of persistent smoking and drug use among Hawaiian women were significantly higher than the remainder of the study population (21% and 8.3% vs. 7.8% and 2.1%, respectively, P Women of Hawaiian ancestry continue to smoke and use illicit drugs during pregnancy at significantly higher rates than women of other ethnic groups in Hawaii. In addition to the immediate effects on pregnancy, long-term adverse outcomes of in utero exposures of the offspring remain an important health disparity.

  5. The genetic contribution of West-African ancestry to protection against central obesity in African-American men but not women: results from the ARIC and MESA studies

    Directory of Open Access Journals (Sweden)

    Yann C Klimentidis

    2016-06-01

    Full Text Available Over 80% of African-American (AA women are overweight or obese. A large racial disparity between AA and European-Americans (EA in obesity rates exists among women, but curiously not among men. Although socio-economic and/or cultural factors may partly account for this race-by-sex interaction, the potential involvement of genetic factors has not yet been investigated. Among 2,814 self-identified AA in the Atherosclerosis Risk in Communities study, we estimated each individual’s degree of West-African genetic ancestry using 3,437 ancestry informative markers. We then tested whether sex modifies the association between West-African genetic ancestry and body mass index (BMI, waist-circumference (WC, and waist-to-hip ratio (WHR, adjusting for income and education levels, and examined associations of ancestry with the phenotypes separately in males and females. We replicated our findings in the Multi-Ethnic Study of Atherosclerosis (n=1,611 AA. In both studies, we find that West-African ancestry is negatively associated with obesity, especially central obesity, among AA men, but not among AA women (pinteraction= 1.24 x 10-5 in pooled analysis of WHR. In conclusion, our results suggest that the combination of male sex and West-African genetic ancestry is associated with protection against central adiposity, and suggest that the large racial disparity that exists among women, but not men, may be at least partly attributed to genetic factors.

  6. The Genetic Contribution of West-African Ancestry to Protection against Central Obesity in African-American Men but Not Women: Results from the ARIC and MESA Studies.

    Science.gov (United States)

    Klimentidis, Yann C; Arora, Amit; Zhou, Jin; Kittles, Rick; Allison, David B

    2016-01-01

    Over 80% of African-American (AA) women are overweight or obese. A large racial disparity between AA and European-Americans (EA) in obesity rates exists among women, but curiously not among men. Although socio-economic and/or cultural factors may partly account for this race-by-sex interaction, the potential involvement of genetic factors has not yet been investigated. Among 2814 self-identified AA in the Atherosclerosis Risk in Communities study, we estimated each individual's degree of West-African genetic ancestry using 3437 ancestry informative markers. We then tested whether sex modifies the association between West-African genetic ancestry and body mass index (BMI), waist-circumference (WC), and waist-to-hip ratio (WHR), adjusting for income and education levels, and examined associations of ancestry with the phenotypes separately in males and females. We replicated our findings in the Multi-Ethnic Study of Atherosclerosis (n = 1611 AA). In both studies, we find that West-African ancestry is negatively associated with obesity, especially central obesity, among AA men, but not among AA women (pinteraction = 4.14 × 10(-5) in pooled analysis of WHR). In conclusion, our results suggest that the combination of male gender and West-African genetic ancestry is associated with protection against central adiposity, and suggest that the large racial disparity that exists among women, but not men, may be at least partly attributed to genetic factors.

  7. Freshly brewed continental crust

    Science.gov (United States)

    Gazel, E.; Hayes, J. L.; Caddick, M. J.; Madrigal, P.

    2015-12-01

    Earth's crust is the life-sustaining interface between our planet's deep interior and surface. Basaltic crusts similar to Earth's oceanic crust characterize terrestrial planets in the solar system while the continental masses, areas of buoyant, thick silicic crust, are a unique characteristic of Earth. Therefore, understanding the processes responsible for the formation of continents is fundamental to reconstructing the evolution of our planet. We use geochemical and geophysical data to reconstruct the evolution of the Central American Land Bridge (Costa Rica and Panama) over the last 70 Ma. We also include new preliminary data from a key turning point (~12-6 Ma) from the evolution from an oceanic arc depleted in incompatible elements to a juvenile continental mass in order to evaluate current models of continental crust formation. We also discovered that seismic P-waves (body waves) travel through the crust at velocities closer to the ones observed in continental crust worldwide. Based on global statistical analyses of all magmas produced today in oceanic arcs compared to the global average composition of continental crust we developed a continental index. Our goal was to quantitatively correlate geochemical composition with the average P-wave velocity of arc crust. We suggest that although the formation and evolution of continents may involve many processes, melting enriched oceanic crust within a subduction zone, a process probably more common in the Achaean where most continental landmasses formed, can produce the starting material necessary for juvenile continental crust formation.

  8. European survey of diagnosis and management of the polycystic ovary syndrome: results of the ESE PCOS Special Interest Group's Questionnaire.

    Science.gov (United States)

    Conway, Gerard; Dewailly, Didier; Diamanti-Kandarakis, Evanthia; Escobar-Morreale, Hector F; Franks, Steven; Gambineri, Alessandra; Kelestimur, Fahrettin; Macut, Djuro; Micic, Dragan; Pasquali, Renato; Pfeifer, Marija; Pignatelli, Duarte; Pugeat, Michel; Yildiz, Bulent

    2014-10-01

    There is evidence for differences between endocrinologists and other specialists in their approach to diagnosis and management of the polycystic ovary syndrome (PCOS). A mailed survey consisting of a simple questionnaire aiming to understand current practice for diagnosis and management of the PCOS by specialists across Europe. The questionnaire consisted of 23 questions grouped to achieve information on i) the general characteristics of the respondents, ii) patients with PCOS seen by endocrinologists, iii) the main diagnostic criteria, iv) biochemical parameters used in the differential diagnosis of hyperandrogenism, v) long-term concerns, and, finally vi) treatment choices. A total of 357 questionnaires representing 13.3% of the members of European Society of Endocrinology (ESE) were available for final analysis; 93% of the respondents were endocrinologists In relation to the diagnostic criteria, respondents were most likely to select menstrual irregularity as the most frequent criteria used for the diagnosis of PCOS although very high rates were achieved for the use of hirsutism and biochemical hyperandrogenism. It therefore appears that the NIH criteria were followed by the majority of respondents. The most frequent biochemical parameters in the differential diagnosis of hyperandrogenism were total testosterone or free androgen index. Obesity and type 2 diabetes were regarded as the principal long-term concerns for PCOS. The most common treatments for patients with PCOS were metformin (33%), lifestyle modification (25%), and oral contraceptives (22%). More direct treatments of infertility include clomiphene citrate alone or in combination with metformin, prescribed by 9 and 23%, respectively, whereas only 6% used other methods for induction of ovulation. The survey produced by ESE is a good start for evaluating the perspective in the diagnosis and treatment of PCOS by endocrinologists in Europe. © 2014 European Society of Endocrinology.

  9. Ancestry informative markers and complete blood count parameters in Brazilian blood donors

    Directory of Open Access Journals (Sweden)

    Gabriela E. S. Felix

    Full Text Available A complete blood count is very useful in clinical diagnoses when reference ranges are well established for the population. Complete blood counts and allele frequencies of Ancestry Informative Markers (AIMs were analyzed in Brazilians with the aim of characterizing the hematological values of an admixed population. Positive associations were observed between gender and neutrophils, monocytes, eosinophils, erythrocytes, hemoglobin, hematocrit, MCV, MCHC and platelet counts. No significant differences were found for age, alcohol consumption, educational status, ethnicity, smoking in respect to the complete blood count values. In general, men had higher red blood cell values, while women had higher values for white blood cells and platelets. The study of the population was highly heterogeneous with mean proportions (± SE of African, European and Amerindian ancestry being 49.0 ± 3.0%, 44.0 ± 9.0% and 7.0 ± 9.0%, respectively. Amerindian ancestry showed limited contribution to the makeup of the population, but estimated ancestral proportions were statistically significant (r = 0.9838; P<0.001. These hematologic values are similar to Afro-Americans, another admixed population.

  10. Cut-off points to identify sarcopenia according to European Working Group on Sarcopenia in Older People (EWGSOP) definition.

    Science.gov (United States)

    Bahat, Gulistan; Tufan, Asli; Tufan, Fatih; Kilic, Cihan; Akpinar, Timur Selçuk; Kose, Murat; Erten, Nilgun; Karan, Mehmet Akif; Cruz-Jentoft, Alfonso J

    2016-12-01

    The reported prevalence of sarcopenia ranges widely depending on its definition criterion. European Working Group on Sarcopenia in Older People (EWGSOP) developed a practical clinical definition and consensus diagnostic criteria. This definition recommends using normative data of the study population rather than other reference populations. We aimed to define the reference cut-off values for muscle mass, muscle strength and calf circumference in Turkey in order to improve general applicability of EWGSOP criteria. Healthy young adults between 18 and 39 years of age with no known chronic disease or chronic drug usage were included in our study to serve as reference population for assessing muscle mass. Community-dwelling older outpatients were prospectively recruited from the geriatrics outpatient clinics of a university hospital for assessing hand grip strength and calf circumference. Body composition was assessed by bioimpedance analysis. Muscle strength was assessed measuring hand grip strength with a Jamar hand dynamometer. The cut-off thresholds for muscle mass were defined as the mean-2SD of the values of the young reference study population; for grip strength were calculated from ROC analyses using cut-off values that predicted gait speed < 0.8 m/s; and for calf circumference were calculated from ROC analyses using cut-off values that predicted low muscle mass. The young reference group included a total of 301 participants (187 male, 114 female; mean age: 26.5 ± 4.6 years). The cut-off thresholds for skeletal muscle mass indexes were 9.2 kg/m(2) and 7.4 kg/m(2) in males and females, respectively. The older community dwelling group included 406 subjects (123 male, 283 female, mean age: 76.6 ± 6.7 years). The cut-off thresholds for hand grip strength were 32 kg and 22 kg for males and females. The cut-off threshold for calf circumference was 33 cm for both males and females. The cut-off thresholds for muscle mass, grip strength and calf

  11. Pharmacogenomic diversity among Brazilians: Influence of ancestry, self-reported Color and geographical origin

    Directory of Open Access Journals (Sweden)

    Guilherme eSuarez-Kurtz

    2012-11-01

    Full Text Available By virtue of being the product of the genetic admixture of three ancestral roots: Europeans, Africans and Amerindians, the present day Brazilian population displays very high levels of genomic diversity, which have important pharmacogenetic/-genomic (PGx implications. Recognition of this fact has prompted the creation of the Brazilian Pharmacogenomics Network (Refargen, a nationwide consortium of research groups, with the mission to provide leadership in PGx research and education in Brazil, with a population heath impact. Here, we present original data and review published results from a Refargen comprehensive study of the distribution of PGx polymorphisms in a representative cohort of the Brazilian people, comprising 1,034 healthy, unrelated adults, self-identified as white, brown or black, according to the Color categories adopted by the Brazilian Census. Multinomial log-linear regression analysis was applied to infer the statistical association between allele, genotype and haplotype distributions among Brazilians (response variables and self-reported Color, geographical region and biogeographical ancestry (explanatory variables, whereas Wright´s FST statistics was used to assess the extent of PGx divergence among different strata of the Brazilian population. Major PGx implications of these findings are: first, extrapolation of data from relatively well-defined ethnic groups is clearly not applicable to the majority of Brazilians; second, the frequency distribution of polymorphisms in several pharmacogenes of clinical relevance (e.g. ABCB1, CYP3A5, CYP2C9, VKORC varies continuously among Brazilians and is not captured by race/Color self-identification; third, the intrinsic heterogeneity of the Brazilian population must be acknowledged in the design and interpretation of PGx studies in order to avoid spurious conclusions based on improper matching of study cohorts.

  12. Y-chromosome diversity in modern Bulgarians: new clues about their ancestry.

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    Sena Karachanak

    Full Text Available To better define the structure and origin of the Bulgarian paternal gene pool, we have examined the Y-chromosome variation in 808 Bulgarian males. The analysis was performed by high-resolution genotyping of biallelic markers and by analyzing the STR variation within the most informative haplogroups. We found that the Y-chromosome gene pool in modern Bulgarians is primarily represented by Western Eurasian haplogroups with ∼ 40% belonging to haplogroups E-V13 and I-M423, and 20% to R-M17. Haplogroups common in the Middle East (J and G and in South Western Asia (R-L23* occur at frequencies of 19% and 5%, respectively. Haplogroups C, N and Q, distinctive for Altaic and Central Asian Turkic-speaking populations, occur at the negligible frequency of only 1.5%. Principal Component analyses group Bulgarians with European populations, apart from Central Asian Turkic-speaking groups and South Western Asia populations. Within the country, the genetic variation is structured in Western, Central and Eastern Bulgaria indicating that the Balkan Mountains have been permeable to human movements. The lineage analysis provided the following interesting results: (i R-L23* is present in Eastern Bulgaria since the post glacial period; (ii haplogroup E-V13 has a Mesolithic age in Bulgaria from where it expanded after the arrival of farming; (iii haplogroup J-M241 probably reflects the Neolithic westward expansion of farmers from the earliest sites along the Black Sea. On the whole, in light of the most recent historical studies, which indicate a substantial proto-Bulgarian input to the contemporary Bulgarian people, our data suggest that a common paternal ancestry between the proto-Bulgarians and the Altaic and Central Asian Turkic-speaking populations either did not exist or was negligible.

  13. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.

    Science.gov (United States)

    Vasen, Hans F A; Blanco, Ignacio; Aktan-Collan, Katja; Gopie, Jessica P; Alonso, Angel; Aretz, Stefan; Bernstein, Inge; Bertario, Lucio; Burn, John; Capella, Gabriel; Colas, Chrystelle; Engel, Christoph; Frayling, Ian M; Genuardi, Maurizio; Heinimann, Karl; Hes, Frederik J; Hodgson, Shirley V; Karagiannis, John A; Lalloo, Fiona; Lindblom, Annika; Mecklin, Jukka-Pekka; Møller, Pal; Myrhoj, Torben; Nagengast, Fokko M; Parc, Yann; Ponz de Leon, Maurizio; Renkonen-Sinisalo, Laura; Sampson, Julian R; Stormorken, Astrid; Sijmons, Rolf H; Tejpar, Sabine; Thomas, Huw J W; Rahner, Nils; Wijnen, Juul T; Järvinen, Heikki Juhani; Möslein, Gabriela

    2013-06-01

    Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. In 2007, a group of European experts (the Mallorca group) published guidelines for the clinical management of LS. Since then substantial new information has become available necessitating an update of the guidelines. In 2011 and 2012 workshops were organised in Palma de Mallorca. A total of 35 specialists from 13 countries participated in the meetings. The first step was to formulate important clinical questions. Then a systematic literature search was performed using the Pubmed database and manual searches of relevant articles. During the workshops the outcome of the literature search was discussed in detail. The guidelines described in this paper may be helpful for the appropriate management of families with LS. Prospective controlled studies should be undertaken to improve further the care of these families.

  14. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

    Science.gov (United States)

    Vasen, Hans F A; Blanco, Ignacio; Aktan-Collan, Katja; Gopie, Jessica P; Alonso, Angel; Aretz, Stefan; Bernstein, Inge; Bertario, Lucio; Burn, John; Capella, Gabriel; Colas, Chrystelle; Engel, Christoph; Frayling, Ian M; Genuardi, Maurizio; Heinimann, Karl; Hes, Frederik J; Hodgson, Shirley V; Karagiannis, John A; Lalloo, Fiona; Lindblom, Annika; Mecklin, Jukka-Pekka; Møller, Pal; Myrhoj, Torben; Nagengast, Fokko M; Parc, Yann; Ponz de Leon, Maurizio; Renkonen-Sinisalo, Laura; Sampson, Julian R; Stormorken, Astrid; Sijmons, Rolf H; Tejpar, Sabine; Thomas, Huw J W; Rahner, Nils; Wijnen, Juul T; Järvinen, Heikki Juhani; Möslein, Gabriela

    2013-01-01

    Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. In 2007, a group of European experts (the Mallorca group) published guidelines for the clinical management of LS. Since then substantial new information has become available necessitating an update of the guidelines. In 2011 and 2012 workshops were organised in Palma de Mallorca. A total of 35 specialists from 13 countries participated in the meetings. The first step was to formulate important clinical questions. Then a systematic literature search was performed using the Pubmed database and manual searches of relevant articles. During the workshops the outcome of the literature search was discussed in detail. The guidelines described in this paper may be helpful for the appropriate management of families with LS. Prospective controlled studies should be undertaken to improve further the care of these families. PMID:23408351

  15. Mitochondrial DNA ancestry, HPV infection and the risk of cervical cancer in a multiethnic population of northeastern Argentina.

    Directory of Open Access Journals (Sweden)

    Ines Badano

    Full Text Available Misiones Province in northeastern Argentina is considered to be a region with a high prevalence of HPV infection and a high mortality rate due to cervical cancer. The reasons for this epidemiological trend are not completely understood. To gain insight into this problem, we explored the relationship between mitochondrial DNA (mtDNA ancestry, HPV infection, and development of cervical lesions/cancer in women from the city of Posadas in Misiones Province.Two hundred and sixty-one women, including 92 cases of patients diagnosed with cervical lesions and 169 controls, were analyzed. mtDNA ancestry was assessed through HVS1 sequencing, while the detection and typing of HPV infection was conducted through nested multiplex PCR analysis. Multivariate logistic regression was conducted with the resulting data to estimate the odds ratios (ORs adjusted by socio-demographic variables.The study participants showed 68.6% Amerindian, 26.1% European and 5.3% African mtDNA ancestry, respectively. Multiple regression analysis showed that women with African mtDNAs were three times more likely to develop a cervical lesion than those with Native American or European mtDNAs [OR of 3.8 (1.2-11.5 for ancestry and OR of 3.5 (1.0-12.0 for L haplogroups], although the associated p values were not significant when tested under more complex multivariate models. HPV infection and the development of cervical lesions/cancer were significant for all tested models, with the highest OR values for HPV16 [OR of 24.2 (9.3-62.7] and HPV-58 [OR of 19.0 (2.4-147.7].HPV infection remains a central risk factor for cervical cancer in the Posadas population. The potential role of African mtDNA ancestry opens a new avenue for future medical association studies in multiethnic populations, and will require further confirmation in large-scale studies.

  16. Mitochondrial DNA ancestry, HPV infection and the risk of cervical cancer in a multiethnic population of northeastern Argentina.

    Science.gov (United States)

    Badano, Ines; Sanabria, Daiana J; Totaro, Maria E; Rubinstein, Samara; Gili, Juan A; Liotta, Domingo J; Picconi, Maria A; Campos, Rodolfo H; Schurr, Theodore G

    2018-01-01

    Misiones Province in northeastern Argentina is considered to be a region with a high prevalence of HPV infection and a high mortality rate due to cervical cancer. The reasons for this epidemiological trend are not completely understood. To gain insight into this problem, we explored the relationship between mitochondrial DNA (mtDNA) ancestry, HPV infection, and development of cervical lesions/cancer in women from the city of Posadas in Misiones Province. Two hundred and sixty-one women, including 92 cases of patients diagnosed with cervical lesions and 169 controls, were analyzed. mtDNA ancestry was assessed through HVS1 sequencing, while the detection and typing of HPV infection was conducted through nested multiplex PCR analysis. Multivariate logistic regression was conducted with the resulting data to estimate the odds ratios (ORs) adjusted by socio-demographic variables. The study participants showed 68.6% Amerindian, 26.1% European and 5.3% African mtDNA ancestry, respectively. Multiple regression analysis showed that women with African mtDNAs were three times more likely to develop a cervical lesion than those with Native American or European mtDNAs [OR of 3.8 (1.2-11.5) for ancestry and OR of 3.5 (1.0-12.0) for L haplogroups], although the associated p values were not significant when tested under more complex multivariate models. HPV infection and the development of cervical lesions/cancer were significant for all tested models, with the highest OR values for HPV16 [OR of 24.2 (9.3-62.7)] and HPV-58 [OR of 19.0 (2.4-147.7)]. HPV infection remains a central risk factor for cervical cancer in the Posadas population. The potential role of African mtDNA ancestry opens a new avenue for future medical association studies in multiethnic populations, and will require further confirmation in large-scale studies.

  17. Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

    NARCIS (Netherlands)

    Paternoster, Lavinia; Standl, Marie; Waage, Johannes; Baurecht, Hansjoerg; Hotze, Melanie; Strachan, David P.; Curtin, John A.; Bonnelykke, Klaus; Tian, Chao; Takahashi, Atsushi; Esparza-Gordillo, Jorge; Alves, Alexessander Couto; Thyssen, Jacob P.; den Dekker, Herman T.; Ferreira, Manuel A.; Altmaier, Elisabeth; Sleiman, Patrick M. A.; Xiao, Feng Li; Gonzalez, Juan R.; Marenholz, Ingo; Kalb, Birgit; Pino-Yanes, Maria; Xu, Chengjian; Carstensen, Lisbeth; Groen-Blokhuis, Maria M.; Venturini, Cristina; Pennell, Craig E.; Barton, Sheila J.; Levin, Albert M.; Curjuric, Ivan; Bustamante, Mariona; Kreiner-Moller, Eskil; Lockett, Gabrielle A.; Bacelis, Jonas; Bunyavanich, Supinda; Myers, Rachel A.; Matanovic, Anja; Kumar, Ashish; Tung, Joyce Y.; Hirota, Tomomitsu; Kubo, Michiaki; McArdle, Wendy L.; Henderson, A. John; Kemp, John P.; Zheng, Jie; Smith, George Davey; Rueschendorf, Franz; Bauerfeind, Anja; Lee-Kirsch, Min Ae; Arnold, Andreas; Homuth, Georg; Schmidt, Carsten O.; Mangold, Elisabeth; Cichon, Sven; Keil, Thomas; Rodriguez, Elke; Peters, Annette; Franke, Andre; Lieb, Wolfgang; Novak, Natalija; Foelster-Holst, Regina; Horikoshi, Momoko; Pekkanen, Juha; Sebert, Sylvain; Husemoen, Lise L.; Grarup, Niels; De Jongste, Johan C.; Rivadeneira, Fernando; Hofman, Albert; Jaddoe, Vincent W. V.; Pasmans, Suzanne G. M. A.; Elbert, Niels J.; Uitterlinden, Andre G.; Marks, Guy B.; Thompson, Philip J.; Matheson, Melanie C.; Robertson, Colin F.; Ried, Janina S.; Li, Jin; Zuo, Xian Bo; Zheng, Xiao Dong; Yin, Xian Yong; Sun, Liang Dan; McAleer, Maeve A.; O'Regan, Grainne M.; Fahy, Caoimhe M. R.; Campbell, Linda E.; Macek, Milan; Kurek, Michael; Hu, Donglei; Eng, Celeste; Postma, Dirkje S.; Feenstra, Bjarke; Geller, Frank; Hottenga, Jouke Jan; Middeldorp, Christel M.; Hysi, Pirro; Bataille, Veronique; Spector, Tim; Tiesler, Carla M. T.; Thiering, Elisabeth; Pahukasahasram, Badri; Yang, James J.; Imboden, Medea; Huntsman, Scott; Vilor-Tejedor, Natalia; Relton, Caroline L.; Myhre, Ronny; Nystad, Wenche; Custovic, Adnan; Weiss, Scott T.; Meyers, Deborah A.; Soederhaell, Cilla; Melen, Erik; Ober, Carole; Raby, Benjamin A.; Simpson, Angela; Jacobsson, Bo; Holloway, John W.; Bisgaard, Hans; Sunyer, Jordi; Probst-Hensch, Nicole M.; Williams, L. Keoki; Godfrey, Keith M.; Wang, Carol A.; Boomsma, Dorret I.; Melbye, Mads; Koppelman, Gerard H.; Jarvis, Deborah; McLean, W. H. Irwin; Irvine, Alan D.; Zhang, Xue Jun; Hakonarson, Hakon; Gieger-, Christian; Burchard, Esteban G.; Martin, Nicholas G.; Duijts, Liesbeth; Linneberg, Allan; Jarvelin, Marjo-Riitta; Noethen, Markus M.; Lau, Susanne; Huebner, Norbert; Lee, Young-Ae; Tamari, Mayumi; Hinds, David A.; Glass, Daniel; Brown, Sara J.; Heinrich, Joachim; Evans, David M.; Weidinger, Stephan

    2015-01-01

    Genetic association studies have identified 21 loci associated with atopic dermatitis risk predominantly in populations of European ancestry. To identify further susceptibility loci for this common, complex skin disease, we performed a meta-analysis of >15 million genetic variants in 21,399 cases

  18. Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

    DEFF Research Database (Denmark)

    Paternoster, Lavinia; Standl, Marie; Waage, Johannes

    2015-01-01

    Genetic association studies have identified 21 loci associated with atopic dermatitis risk predominantly in populations of European ancestry. To identify further susceptibility loci for this common, complex skin disease, we performed a meta-analysis of >15 million genetic variants in 21,399 cases...

  19. Utilization and Perceived Problems of Online Medical Resources and Search Tools Among Different Groups of European Physicians

    Science.gov (United States)

    Kritz, Marlene; Gschwandtner, Manfred; Stefanov, Veronika; Hanbury, Allan

    2013-01-01

    Background There is a large body of research suggesting that medical professionals have unmet information needs during their daily routines. Objective To investigate which online resources and tools different groups of European physicians use to gather medical information and to identify barriers that prevent the successful retrieval of medical information from the Internet. Methods A detailed Web-based questionnaire was sent out to approximately 15,000 physicians across Europe and disseminated through partner websites. 500 European physicians of different levels of academic qualification and medical specialization were included in the analysis. Self-reported frequency of use of different types of online resources, perceived importance of search tools, and perceived search barriers were measured. Comparisons were made across different levels of qualification (qualified physicians vs physicians in training, medical specialists without professorships vs medical professors) and specialization (general practitioners vs specialists). Results Most participants were Internet-savvy, came from Austria (43%, 190/440) and Switzerland (31%, 137/440), were above 50 years old (56%, 239/430), stated high levels of medical work experience, had regular patient contact and were employed in nonacademic health care settings (41%, 177/432). All groups reported frequent use of general search engines and cited “restricted accessibility to good quality information” as a dominant barrier to finding medical information on the Internet. Physicians in training reported the most frequent use of Wikipedia (56%, 31/55). Specialists were more likely than general practitioners to use medical research databases (68%, 185/274 vs 27%, 24/88; χ2 2=44.905, Pinformation on the Internet (59%, 50/85 vs 43%, 111/260; χ2 1=7.231, P=.007) and to restrict their search by language (48%, 43/89 vs 35%, 97/278; χ2 1=5.148, P=.023). They frequently consult general health websites (36%, 31/87 vs 19%, 51

  20. Utilization and perceived problems of online medical resources and search tools among different groups of European physicians.

    Science.gov (United States)

    Kritz, Marlene; Gschwandtner, Manfred; Stefanov, Veronika; Hanbury, Allan; Samwald, Matthias

    2013-06-26

    There is a large body of research suggesting that medical professionals have unmet information needs during their daily routines. To investigate which online resources and tools different groups of European physicians use to gather medical information and to identify barriers that prevent the successful retrieval of medical information from the Internet. A detailed Web-based questionnaire was sent out to approximately 15,000 physicians across Europe and disseminated through partner websites. 500 European physicians of different levels of academic qualification and medical specialization were included in the analysis. Self-reported frequency of use of different types of online resources, perceived importance of search tools, and perceived search barriers were measured. Comparisons were made across different levels of qualification (qualified physicians vs physicians in training, medical specialists without professorships vs medical professors) and specialization (general practitioners vs specialists). Most participants were Internet-savvy, came from Austria (43%, 190/440) and Switzerland (31%, 137/440), were above 50 years old (56%, 239/430), stated high levels of medical work experience, had regular patient contact and were employed in nonacademic health care settings (41%, 177/432). All groups reported frequent use of general search engines and cited "restricted accessibility to good quality information" as a dominant barrier to finding medical information on the Internet. Physicians in training reported the most frequent use of Wikipedia (56%, 31/55). Specialists were more likely than general practitioners to use medical research databases (68%, 185/274 vs 27%, 24/88; χ²₂=44.905, PInternet (59%, 50/85 vs 43%, 111/260; χ²₁=7.231, P=.007) and to restrict their search by language (48%, 43/89 vs 35%, 97/278; χ²₁=5.148, P=.023). They frequently consult general health websites (36%, 31/87 vs 19%, 51/269; χ²₂=12.813, P=.002) and online physician network

  1. Understanding obstacles to the recognition of and response to dementia in different European countries: a modified focus group approach using multinational, multi-disciplinary expert groups

    NARCIS (Netherlands)

    Iliffe, S.; De Lepeleire, J.; van Hout, H.P.J.; Kenny, G.; Lewis, A.; Vernooij-Dassen, M.J.F.J.

    2005-01-01

    Experts from eight European countries (Belgium, France, The Netherlands, Ireland, Italy, Portugal, Spain and the United Kingdom) and the disciplines of clinical psychology, general practice, geriatric medicine, old age psychiatry, medical sociology, nursing and voluntary body organisation met in

  2. WNW-directed obduction of the Batain Group on the E-Oman continental margin at the Cretaceous-Tertiary boundary.

    NARCIS (Netherlands)

    Schreurs, G.; Immenhauser, A.M.

    1999-01-01

    The Batain coast area in eastern Oman is dominated by allochthonous Permian to Late Maastrichtian sedimentary and volcanic rocks (Batain Group), unconformably overlain by neoautochthonous Tertiary sediments. The allochthonous rocks of the Batain coast were previously attributed to the Hawasina

  3. Haematopoietic SCT in severe autoimmune diseases: updated guidelines of the European Group for Blood and Marrow Transplantation

    Science.gov (United States)

    Snowden, J A; Saccardi, R; Allez, M; Ardizzone, S; Arnold, R; Cervera, R; Denton, C; Hawkey, C; Labopin, M; Mancardi, G; Martin, R; Moore, J J; Passweg, J; Peters, C; Rabusin, M; Rovira, M; van Laar, J M; Farge, D

    2012-01-01

    In 1997, the first consensus guidelines for haematopoietic SCT (HSCT) in autoimmune diseases (ADs) were published, while an international coordinated clinical programme was launched. These guidelines provided broad principles for the field over the following decade and were accompanied by comprehensive data collection in the European Group for Blood and Marrow Transplantation (EBMT) AD Registry. Subsequently, retrospective analyses and prospective phase I/II studies generated evidence to support the feasibility, safety and efficacy of HSCT in several types of severe, treatment-resistant ADs, which became the basis for larger-scale phase II and III studies. In parallel, there has also been an era of immense progress in biological therapy in ADs. The aim of this document is to provide revised and updated guidelines for both the current application and future development of HSCT in ADs in relation to the benefits, risks and health economic considerations of other modern treatments. Patient safety considerations are central to guidance on patient selection and HSCT procedural aspects within appropriately experienced and Joint Accreditation Committee of International Society for Cellular Therapy and EBMT accredited centres. A need for prospective interventional and non-interventional studies, where feasible, along with systematic data reporting, in accordance with EBMT policies and procedures, is emphasized. PMID:22002489

  4. Influencing factors of screen time in preschool children: an exploration of parents' perceptions through focus groups in six European countries.

    Science.gov (United States)

    De Decker, E; De Craemer, M; De Bourdeaudhuij, I; Wijndaele, K; Duvinage, K; Koletzko, B; Grammatikaki, E; Iotova, V; Usheva, N; Fernández-Alvira, J M; Zych, K; Manios, Y; Cardon, G

    2012-03-01

    Preschoolers already spend significant proportions of their waking hours being sedentary. Screen time (i.e. television/DVD viewing and computer use) has been negatively associated with several health outcomes but interventions aiming to reduce preschoolers' sedentary behaviour are scarce. This study aimed to explore parents' perceptions of their preschool children's screen time. One hundred twenty-two parents of low and medium-high socioeconomic status from six European countries with children between 4 and 6 years old were involved in 24 focus groups. Following a qualitative content analysis, the available information and key findings were centrally analysed. Results showed that children tend to like watching television (TV) and most parents do not express worries about their children's TV viewing time. Education is considered to be the main benefit of watching TV and in general, parents only have informal rules about TV viewing. Computer and active games use are less frequent compared with TV viewing. No univocal results are found about the influence of siblings or friends on children's screen time. Weather conditions and parental habits at home are the most important factors influencing children's screen time. Alternatives for screen activities and information on how to set rules for screen time should be provided to parents to assist them in decreasing their preschool children's screen time. © 2012 The Authors. obesity reviews © 2012 International Association for the Study of Obesity.

  5. A Meta-Analysis Identifies New Loci Associated with Body Mass index in Individuals of African Ancestry

    Science.gov (United States)

    Monda, Keri L.; Chen, Gary K.; Taylor, Kira C.; Palmer, Cameron; Edwards, Todd L.; Lange, Leslie A.; Ng, Maggie C.Y.; Adeyemo, Adebowale A.; Allison, Matthew A.; Bielak, Lawrence F.; Chen, Guanji; Graff, Mariaelisa; Irvin, Marguerite R.; Rhie, Suhn K.; Li, Guo; Liu, Yongmei; Liu, Youfang; Lu, Yingchang; Nalls, Michael A.; Sun, Yan V.; Wojczynski, Mary K.; Yanek, Lisa R.; Aldrich, Melinda C.; Ademola, Adeyinka; Amos, Christopher I.; Bandera, Elisa V.; Bock, Cathryn H.; Britton, Angela; Broeckel, Ulrich; Cai, Quiyin; Caporaso, Neil E.; Carlson, Chris; Carpten, John; Casey, Graham; Chen, Wei-Min; Chen, Fang; Chen, Yii-Der I.; Chiang, Charleston W.K.; Coetzee, Gerhard A.; Demerath, Ellen; Deming-Halverson, Sandra L.; Driver, Ryan W.; Dubbert, Patricia; Feitosa, Mary F.; Freedman, Barry I.; Gillanders, Elizabeth M.; Gottesman, Omri; Guo, Xiuqing; Haritunians, Talin; Harris, Tamara; Harris, Curtis C.; Hennis, Anselm JM; Hernandez, Dena G.; McNeill, Lorna H.; Howard, Timothy D.; Howard, Barbara V.; Howard, Virginia J.; Johnson, Karen C.; Kang, Sun J.; Keating, Brendan J.; Kolb, Suzanne; Kuller, Lewis H.; Kutlar, Abdullah; Langefeld, Carl D.; Lettre, Guillaume; Lohman, Kurt; Lotay, Vaneet; Lyon, Helen; Manson, JoAnn E.; Maixner, William; Meng, Yan A.; Monroe, Kristine R.; Morhason-Bello, Imran; Murphy, Adam B.; Mychaleckyj, Josyf C.; Nadukuru, Rajiv; Nathanson, Katherine L.; Nayak, Uma; N’Diaye, Amidou; Nemesure, Barbara; Wu, Suh-Yuh; Leske, M. Cristina; Neslund-Dudas, Christine; Neuhouser, Marian; Nyante, Sarah; Ochs-Balcom, Heather; Ogunniyi, Adesola; Ogundiran, Temidayo O.; Ojengbede, Oladosu; Olopade, Olufunmilayo I.; Palmer, Julie R.; Ruiz-Narvaez, Edward A.; Palmer, Nicholette D.; Press, Michael F.; Rampersaud, Evandine; Rasmussen-Torvik, Laura J.; Rodriguez-Gil, Jorge L.; Salako, Babatunde; Schadt, Eric E.; Schwartz, Ann G.; Shriner, Daniel A.; Siscovick, David; Smith, Shad B.; Wassertheil-Smoller, Sylvia; Speliotes, Elizabeth K.; Spitz, Margaret R.; Sucheston, Lara; Taylor, Herman; Tayo, Bamidele O.; Tucker, Margaret A.; Van Den Berg, David J.; Velez Edwards, Digna R.; Wang, Zhaoming; Wiencke, John K.; Winkler, Thomas W.; Witte, John S.; Wrensch, Margaret; Wu, Xifeng; Yang, James J.; Levin, Albert M.; Young, Taylor R.; Zakai, Neil A.; Cushman, Mary; Zanetti, Krista A.; Zhao, Jing Hua; Zhao, Wei; Zheng, Yonglan; Zhou, Jie; Ziegler, Regina G.; Zmuda, Joseph M.; Fernandes, Jyotika K.; Gilkeson, Gary S.; Kamen, Diane L.; Hunt, Kelly J.; Spruill, Ida J.; Ambrosone, Christine B.; Ambs, Stefan; Arnett, Donna K.; Atwood, Larry; Becker, Diane M.; Berndt, Sonja I.; Bernstein, Leslie; Blot, William J.; Borecki, Ingrid B.; Bottinger, Erwin P.; Bowden, Donald W.; Burke, Gregory; Chanock, Stephen J.; Cooper, Richard S.; Ding, Jingzhong; Duggan, David; Evans, Michele K.; Fox, Caroline; Garvey, W. Timothy; Bradfield, Jonathan P.; Hakonarson, Hakon; Grant, Struan F.A.; Hsing, Ann; Chu, Lisa; Hu, Jennifer J.; Huo, Dezheng; Ingles, Sue A.; John, Esther M.; Jordan, Joanne M.; Kabagambe, Edmond K.; Kardia, Sharon L.R.; Kittles, Rick A.; Goodman, Phyllis J.; Klein, Eric A.; Kolonel, Laurence N.; Le Marchand, Loic; Liu, Simin; McKnight, Barbara; Millikan, Robert C.; Mosley, Thomas H.; Padhukasahasram, Badri; Williams, L. Keoki; Patel, Sanjay R.; Peters, Ulrike; Pettaway, Curtis A.; Peyser, Patricia A.; Psaty, Bruce M.; Redline, Susan; Rotimi, Charles N.; Rybicki, Benjamin A.; Sale, Michèle M.; Schreiner, Pamela J.; Signorello, Lisa B.; Singleton, Andrew B.; Stanford, Janet L.; Strom, Sara S.; Thun, Michael J.; Vitolins, Mara; Zheng, Wei; Moore, Jason H.; Williams, Scott M.; Zhu, Xiaofeng; Zonderman, Alan B.; Kooperberg, Charles; Papanicolaou, George; Henderson, Brian E.; Reiner, Alex P.; Hirschhorn, Joel N.; Loos, Ruth JF; North, Kari E.; Haiman, Christopher A.

    2013-01-01

    Genome-wide association studies (GWAS) have identified 36 loci associated with body mass index (BMI), predominantly in populations of European ancestry. We conducted a meta-analysis to examine the association of >3.2 million SNPs with BMI in 39,144 men and women of African ancestry, and followed up the most significant associations in an additional 32,268 individuals of African ancestry. We identified one novel locus at 5q33 (GALNT10, rs7708584, p=3.4×10−11) and another at 7p15 when combined with data from the Giant consortium (MIR148A/NFE2L3, rs10261878, p=1.2×10−10). We also found suggestive evidence of an association at a third locus at 6q16 in the African ancestry sample (KLHL32, rs974417, p=6.9×10−8). Thirty-two of the 36 previously established BMI variants displayed directionally consistent effect estimates in our GWAS (binomial p=9.7×10−7), of which five reached genome-wide significance. These findings provide strong support for shared BMI loci across populations as well as for the utility of studying ancestrally diverse populations. PMID:23583978

  6. Multiplex genotyping system for efficient inference of matrilineal genetic ancestry with continental resolution

    NARCIS (Netherlands)

    M. van Oven (Mannis); M. Vermeulen (Mark); M.H. Kayser (Manfred)

    2011-01-01

    textabstractAbstract Background: In recent years, phylogeographic studies have produced detailed knowledge on the worldwide distribution of mitochondrial DNA (mtDNA) variants, linking specific clades of the mtDNA phylogeny with certain geographic areas. However, a multiplex genotyping system for the

  7. Structural Validation and Multiple Group Assessment of the Short Internalized Homonegativity Scale in Homosexual and Bisexual Men in 38 European Countries: Results From the European MSM Internet Survey.

    Science.gov (United States)

    Tran, Ha; Ross, Michael W; Diamond, Pamela M; Berg, Rigmor C; Weatherburn, Peter; Schmidt, Axel J

    2017-10-23

    Internalized homonegativity (IH) is the internalization of negative attitudes and assumptions about homosexual people by homosexual people themselves. To measure IH, Smolenski, Diamond, Ross, and Rosser (2010) and Ross, Rosser, and Smolenski (2010) revised the Reactions to Homosexuality Scale (RHS) to develop the Short Internalized Homonegativity Scale (SIHS) with eight items. Using the European Men Who Have Sex With Men Internet Survey (EMIS) data, with an analytic sample of 130,718 gay and bisexual men in 38 European countries, we confirmed the validity of the SIHS scale in both training and validation data, in strata of Ross, Berg, et al.'s (2013) three "homosexual discrimination" country clusters, of age, and of education level. However, the performance was less adequate in comparison of gay versus bisexually identified individuals. The latent SIHS structure contains only minor variations across these three strata. The seven-item scale performed as well as the eight-item scale. The SIHS is a promising candidate for standard IH measures, which is invariant across cultural, age, and educational strata.

  8. European communion

    DEFF Research Database (Denmark)

    Manners, Ian James

    2013-01-01

    Political theory of European union, through an engagement between political concepts and theoretical understandings, provides a means of identifying the EU as a political object. It is argued that understanding the projects, processes and products of European union, based on ‘sharing’ or ‘communion......’, provides a better means of perceiving the EU as a political object rather than terms such as ‘integration’ or ‘co-operation’. The concept of ‘European communion’ is defined as the ‘subjective sharing of relationships’, understood as the extent to which individuals or groups believe themselves to be sharing...... relations (or not), and the consequences of these beliefs for European political projects, processes and products. By exploring European communion through an engagement with contemporary political theory, using very brief illustrations from the Treaty of Lisbon, the article also suggests that European...

  9. Genetic counselling and testing in cardiomyopathies : a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

    NARCIS (Netherlands)

    Charron, Philippe; Arad, Michael; Arbustini, Eloisa; Basso, Cristina; Bilinska, Zofia; Elliott, Perry; Helio, Tiina; Keren, Andre; McKenna, William J.; Monserrat, Lorenzo; Pankuweit, Sabine; Perrot, Andreas; Rapezzi, Claudio; Ristic, Arsen; Seggewiss, Hubert; van Langen, Irene; Tavazzi, Luigi

    2010-01-01

    Advances in molecular genetics present new opportunities and challenges for cardiologists who manage patients and families with cardiomyopathies. The aims of this position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases are to review the general

  10. REFLUX ESOPHAGITIS IN INFANTS AND CHILDREN - A REPORT FROM THE WORKING GROUP ON GASTROESOPHAGEAL REFLUX DISEASE OF THE EUROPEAN-SOCIETY-OF-PEDIATRIC-GASTROENTEROLOGY-AND-NUTRITION

    NARCIS (Netherlands)

    VANDENPLAS, Y; ASHKENAZI, A; BELLI, D; BLECKER, U; BOIGE, N; BOUQUET, J; CADRANEL, S; CEZARD, JP; CUCCHIARA, S; DEVREKER, T; DUPONT, C; GEBOES, K; GOTTRAND, F; HEYMANS, HSA; JASINSKI, C; KNEEPKENS, CMF; KOLETZKO, S; MILLA, P; MOUGENOT, JF; NAVARRO, J; NEWELL, SJ; NUSSLE, D; OLAFSDOTTIR, E; POLANCO, [No Value; RAVELLI, A; SANDHU, BK; TOLBOOM, J

    In this article, the Working Group on Gastro-Oesophageal Reflux of the European Society of Paediatric Gastroenterology and Nutrition presents and discusses a definition of reflux esophagitis and recommends a diagnostic approach and therapeutic management for this condition. Histologic criteria for

  11. Recombinant tissue-type plasminogen activator and immediate angioplasty in acute myocardial infarction. : One-year follow up. The European Cooperative Study Group

    NARCIS (Netherlands)

    A.E.R. Arnold (Alfred); M.L. Simoons (Maarten); D.P. de Bono (David); J.G.P. Tijssen (Jan); P.W.J.C. Serruys (Patrick); M. Verstraete (Marc); J. Lubsen (Jacob); F.J.J. van de Werf (Frans)

    1992-01-01

    textabstractBACKGROUND. The European Cooperative Study Group conducted two randomized trials in patients with suspected myocardial infarction to assess the effect of 100 mg single-chain recombinant tissue-type plasminogen activator (rt-PA, alteplase) on enzymatic infarct size, left ventricular

  12. PREGO (presentation of Graves' orbitopathy) study: changes in referral patterns to European Group On Graves' Orbitopathy (EUGOGO) centres over the period from 2000 to 2012

    NARCIS (Netherlands)

    Perros, Petros; Žarković, Miloš; Azzolini, Claudio; Ayvaz, Göksun; Baldeschi, Lelio; Bartalena, Luigi; Boschi, Antonella; Bournaud, Claire; Brix, Thomas Heiberg; Covelli, Danila; Ćirić, Slavica; Daumerie, Chantal; Eckstein, Anja; Fichter, Nicole; Führer, Dagmar; Hegedüs, Laszlo; Kahaly, George J.; Konuk, Onur; Lareida, Jürg; Lazarus, John; Leo, Marenza; Mathiopoulou, Lemonia; Menconi, Francesca; Morris, Daniel; Okosieme, Onyebuchi; Orgiazzi, Jaques; Pitz, Susanne; Salvi, Mario; Vardanian-Vartin, Cristina; Wiersinga, Wilmar; Bernard, Martine; Clarke, Lucy; Currò, Nicola; Dayan, Colin; Dickinson, Jane; Knežević, Miroslav; Lane, Carol; Marcocci, Claudio; Marinò, Michele; Möller, Lars; Nardi, Marco; Neoh, Christopher; Pearce, Simon; von Arx, George; Törüner, Fosun Baloş

    2015-01-01

    The epidemiology of Graves' orbitopathy (GO) may be changing. The aim of the study was to identify trends in presentation of GO to tertiary centres and initial management over time. Prospective observational study of European Group On Graves' Orbitopathy (EUGOGO) centres. All new referrals with a

  13. Multi-center study on the characteristics and treatment strategies of patients with Graves' orbitopathy: the first European Group on Graves' Orbitopathy experience

    NARCIS (Netherlands)

    Prummel, Mark F.; Bakker, Annemieke; Wiersinga, Wilmar M.; Baldeschi, Lelio; Mourits, Maarten P.; Kendall-Taylor, Pat; Perros, Petros; Neoh, Chris; Dickinson, A. Jane; Lazarus, John H.; Lane, Carol M.; Heufelder, Armin E.; Kahaly, George J.; Pitz, Suzanne; Orgiazzi, Jacques; Hullo, Alain; Pinchera, Aldo; Marcocci, Claudio; Sartini, Maria S.; Rocchi, Roberto; Nardi, Marco; Krassas, Gerry E.; Halkias, A.

    2003-01-01

    To improve management of patients with Graves' orbitopathy, a multi-center collaborative approach is necessary in order to have large enough sample sizes for meaningful randomized clinical trials. This is hampered by a lack of consensus on how to investigate the eye condition. The European Group on

  14. The European Organization for Research and Treatment of Cancer approach to developing questionnaire modules: an update and overview. EORTC Quality of Life Study Group

    NARCIS (Netherlands)

    Sprangers, M. A.; Cull, A.; Groenvold, M.; Bjordal, K.; Blazeby, J.; Aaronson, N. K.

    1998-01-01

    The European Organization for Research and Treatment of Cancer (EORTC) Quality of Life Study Group has adopted a modular approach to quality of life (QoL) assessment in cancer clinical trials. The core instrument (the EORTC QLQ-C30) covers a range of QoL issues relevant to a broad spectrum of

  15. Use of faecal markers in screening for colorectal neoplasia: a European group on tumor markers position paper.

    LENUS (Irish Health Repository)

    Duffy, Michael J

    2012-02-01

    Several randomized controlled trials have shown that population-based screening using faecal occult blood testing (FOBT) can reduce mortality from colorectal neoplasia. Based on this evidence, a number of countries have introduced screening for colorectal cancer (CRC) and high-risk adenoma and many others are considering its introduction. The aim of this article is to critically review the current status of faecal markers as population-based screening tests for these neoplasia. Most of the available faecal tests involve the measurement of either occult blood or a panel of DNA markers. Occult blood may be measured using either the guaiac faecal occult blood test (gFOBT) or a faecal immunochemical test (iFOBT). Although iFOBT may require a greater initial investment, they have several advantages over gFOBT, including greater analytical sensitivity and specificity. Their use results in improved clinical performance and higher uptake rates. Importantly for population screening, some of the iFOBTs can be automated and provide an adjustable cutoff for faecal haemoglobin concentration. However, samples for iFOBT, may be less stable after collection than for gFOBT. For new centres undertaking FOBT for colorectal neoplasia, the European Group on Tumour Markers recommends use of a quantitative iFOBT with an adjustable cutoff point and high throughput analysis. All participants with positive FOBT results should be offered colonoscopy. The panel recommends further research into increasing the stability of iFOBT and the development of improved and affordable DNA and proteomic-based tests, which reduce current false negative rates, simplify sample transport and enable automated analysis.

  16. Graves' orbitopathy as a rare disease in Europe: a European Group on Graves' Orbitopathy (EUGOGO) position statement.

    Science.gov (United States)

    Perros, P; Hegedüs, L; Bartalena, L; Marcocci, C; Kahaly, G J; Baldeschi, L; Salvi, M; Lazarus, J H; Eckstein, A; Pitz, S; Boboridis, K; Anagnostis, P; Ayvaz, G; Boschi, A; Brix, T H; Currò, N; Konuk, O; Marinò, M; Mitchell, A L; Stankovic, B; Törüner, F B; von Arx, G; Zarković, M; Wiersinga, W M

    2017-04-20

    Graves' orbitopathy (GO) is an autoimmune condition, which is associated with poor clinical outcomes including impaired quality of life and socio-economic status. Current evidence suggests that the incidence of GO in Europe may be declining, however data on the prevalence of this disease are sparse. Several clinical variants of GO exist, including euthyroid GO, recently listed as a rare disease in Europe (ORPHA466682). The objective was to estimate the prevalence of GO and its clinical variants in Europe, based on available literature, and to consider whether they may potentially qualify as rare. Recent published data on the incidence of GO and Graves' hyperthyroidism in Europe were used to estimate the prevalence of GO. The position statement was developed by a series of reviews of drafts and electronic discussions by members of the European Group on Graves' Orbitopathy. The prevalence of GO in Europe is about 10/10,000 persons. The prevalence of other clinical variants is also low: hypothyroid GO 0.02-1.10/10,000; GO associated with dermopathy 0.15/10,000; GO associated with acropachy 0.03/10,000; asymmetrical GO 1.00-5.00/10,000; unilateral GO 0.50-1.50/10,000. GO has a prevalence that is clearly above the threshold for rarity in Europe. However, each of its clinical variants have a low prevalence and could potentially qualify for being considered as a rare condition, providing that future research establishes that they have a distinct pathophysiology. EUGOGO considers this area of academic activity a priority.

  17. Infection prevention and control in ultrasound - best practice recommendations from the European Society of Radiology Ultrasound Working Group.

    Science.gov (United States)

    Nyhsen, Christiane M; Humphreys, Hilary; Koerner, Roland J; Grenier, Nicolas; Brady, Adrian; Sidhu, Paul; Nicolau, Carlos; Mostbeck, Gerhard; D'Onofrio, Mirko; Gangi, Afshin; Claudon, Michel

    2017-12-01

    The objective of these recommendations is to highlight the importance of infection prevention and control in ultrasound (US), including diagnostic and interventional settings. Review of available publications and discussion within a multidisciplinary group consistent of radiologists and microbiologists, in consultation with European patient and industry representatives. Good basic hygiene standards are essential. All US equipment must be approved prior to first use, including hand held devices. Any equipment in direct patient contact must be cleaned and disinfected prior to first use and after every examination. Regular deep cleaning of the entire US machine and environment should be undertaken. Faulty transducers should not be used. As outlined in presented flowcharts, low level disinfection is sufficient for standard US on intact skin. For all other minor and major interventional procedures as well as all endo-cavity US, high level disinfection is mandatory. Dedicated transducer covers must be used when transducers are in contact with mucous membranes or body fluids and sterile gel should be used inside and outside covers. Good standards of basic hygiene and thorough decontamination of all US equipment as well as appropriate use of US gel and transducer covers are essential to keep patients safe. • Transducers must be cleaned/disinfected before first use and after every examination. • Low level disinfection is sufficient for standard US on intact skin. • High level disinfection is mandatory for endo-cavity US and all interventions. • Dedicated transducer covers must be used for endo-cavity US and all interventions. • Sterile gel should be used for all endo-cavity US and all interventions.

  18. Need for a European approach to the effects of extremely low-frequency electromagnetic fields on cancer. ELF-EMF European Feasibility Study Group.

    Science.gov (United States)

    1997-02-01

    A European feasibility study on environmental exposure to extremely low-frequency electromagnetic fields (ELF-EMF) and cancer was conducted. The study was motivated by public health concern about possible adverse health effects associated with ELF-EMF exposure. A review of completed research in Europe was conducted. Information on the methods and accessibility of new epidemiologic studies were requested and reviewed. Eight studies on environmental ELF-EMF exposure have been completed in Europe while 15 large studies are in progress. Although there is no known mechanism by which electric or magnetic fields of this frequency could play a role in the development of cancer or other adverse health effects, the results of the studies conducted so far provide some support for the hypothesis that they are associated with the incidence of childhood leukemia. The best use of available data will be made through a pooled re-analysis of data, particularly those on childhood tumors. It is recommended to apply multiple methods for exposure assessment in view of the heterogeneity in the methods used in different studies. New multicenter case-referent studies should not be initiated until the results of the large on-going studies have been reported. Prospective cohort studies will have to be very large to identify moderate excess risks resulting from environmental exposure to ELF-EMF, and their feasibility should be discussed after the results of the on-going case-referent studies have been reported. A European collaborative approach will lead to greater statistical power and will assess the exposure-effect association under differing exposure patterns and distributions of potential confounding factors.

  19. Organization of heart failure management in European Society of Cardiology member countries: survey of the Heart Failure Association of the European Society of Cardiology in collaboration with the Heart Failure National Societies/Working Groups.

    Science.gov (United States)

    Seferovic, Petar M; Stoerk, Stefan; Filippatos, Gerasimos; Mareev, Viacheslav; Kavoliuniene, Ausra; Ristic, Arsen D; Ponikowski, Piotr; McMurray, John; Maggioni, Aldo; Ruschitzka, Frank; van Veldhuisen, Dirk J; Coats, Andrew; Piepoli, Massimo; McDonagh, Theresa; Riley, Jillian; Hoes, Arno; Pieske, Burkert; Dobric, Milan; Papp, Zoltan; Mebazaa, Alexandre; Parissis, John; Ben Gal, Tuvia; Vinereanu, Dragos; Brito, Dulce; Altenberger, Johann; Gatzov, Plamen; Milinkovic, Ivan; Hradec, Jaromír; Trochu, Jean-Noel; Amir, Offer; Moura, Brenda; Lainscak, Mitja; Comin, Josep; Wikström, Gerhard; Anker, Stefan

    2013-09-01

    The aim of this document was to obtain a real-life contemporary analysis of the demographics and heart failure (HF) statistics, as well as the organization and major activities of the Heart Failure National Societies (HFNS) in European Society of Cardiology (ESC) member countries. Data from 33 countries were collected from HFNS presidents/representatives during the first Heart Failure Association HFNS Summit (Belgrade, Serbia, 29 October 2011). Data on incidence and/or prevalence of HF were available for 22 countries, and the prevalence of HF ranged between 1% and 3%. In five European and one non-European ESC country, heart transplantation was reported as not available. Natriuretic peptides and echocardiography are routinely applied in the management of acute HF in the median of 80% and 90% of centres, respectively. Eastern European and Mediterranean countries have lower availability of natriuretic peptide testing for acute HF patients, compared with other European countries. Almost all countries have organizations dealing specifically with HF. HFNS societies for HF patients exist in only 12, while in 16 countries HF patient education programmes are active. Most HFNS reported that no national HF registry exists in their country. Fifteen HFNS produced national HF guidelines, while 19 have translated the ESC HF guidelines. Most HFNS (n = 23) participated in the organization of the European HF Awareness Day. This document demonstrated significant heterogeneity in the organization of HF management, and activities of the national HF working groups/associations. High availability of natriuretic peptide and echocardiographic measurements was revealed, with differences between developed countries and countries in transition.

  20. MixFit: Methodology for Computing Ancestry-Related Genetic Scores at the Individual Level and Its Application to the Estonian and Finnish Population Studies.

    Science.gov (United States)

    Haller, Toomas; Leitsalu, Liis; Fischer, Krista; Nuotio, Marja-Liisa; Esko, Tõnu; Boomsma, Dorothea Irene; Kyvik, Kirsten Ohm; Spector, Tim D; Perola, Markus; Metspalu, Andres

    2017-01-01

    Ancestry information at the individual level can be a valuable resource for personalized medicine, medical, demographical and history research, as well as for tracing back personal history. We report a new method for quantitatively determining personal genetic ancestry based on genome-wide data. Numerical ancestry component scores are assigned to individuals based on comparisons with reference populations. These comparisons are conducted with an existing analytical pipeline making use of genotype phasing, similarity matrix computation and our addition-multidimensional best fitting by MixFit. The method is demonstrated by studying Estonian and Finnish populations in geographical context. We show the main differences in the genetic composition of these otherwise close European populations and how they have influenced each other. The components of our analytical pipeline are freely available computer programs and scripts one of which was developed in house (available at: www.geenivaramu.ee/en/tools/mixfit).

  1. Genetic Ancestry Is not Associated with Breast Cancer Recurrence or Survival in U.S. Latina Women Enrolled in the Kaiser Permanente Pathways Study.

    Science.gov (United States)

    Engmann, Natalie J; Ergas, Isaac J; Yao, Song; Kwan, Marilyn L; Roh, Janise M; Ambrosone, Christine B; Kushi, Lawrence H; Fejerman, Laura

    2017-09-01

    Background: The U.S. Hispanic/Latino population is heterogeneous both socioculturally and by the proportion of European, Indigenous American, and African ancestry of the regions from which individuals originate. A previous study reported that genetic ancestry was associated with breast cancer survival among Latinas, independent of sociodemographic and tumor characteristics, suggesting that a genetic factor associated with ancestry may affect breast cancer survival. Methods: We evaluated the association of genetic ancestry with breast cancer outcomes among 506 Latina women with invasive breast cancer in the Pathways Study, a cohort study within Kaiser Permanente, an integrated health care delivery system. Proportional hazards models were used to assess the effect of ancestry on breast cancer recurrence (53 events), breast cancer-specific mortality (31 events) and all-cause mortality (54 events), with a mean follow-up time of 6 years. Results: Indigenous American ancestry was not associated with breast cancer recurrence [HR = 1.00 per 10% increase; 95% confidence interval (CI), 0.86-1.16], breast cancer mortality (HR = 0.95; 95% CI, 0.77-1.17), or all-cause mortality (HR = 0.93; 95% CI, 0.80-1.08). Adjustment for sociodemographic variables, tumor characteristics, and treatment did not alter the associations. Conclusions: Our results suggest that previously reported differences in breast cancer survival by genetic ancestry may be overcome by improving health care access and/or quality. Impact: Improving health care access and quality may reduce breast cancer disparities among U.S. Latinas. Cancer Epidemiol Biomarkers Prev; 26(9); 1466-9. ©2017 AACR . ©2017 American Association for Cancer Research.

  2. Disparities in Birth Weight and Gestational Age by Ethnic Ancestry in South American countries

    Science.gov (United States)

    Wehby, George L.; Gili, Juan A.; Pawluk, Mariela; Castilla, Eduardo E.; López-Camelo, Jorge S.

    2015-01-01

    Objective We examine disparities in birth weight and gestational age by ethnic ancestry in 2000–2011 in eight South American countries. Methods The sample included 60480 singleton live-births. Regression models were estimated to evaluate differences in birth outcomes by ethnic ancestry controlling for time trends. Results Significant disparities were found in seven countries. In four countries – Brazil, Ecuador, Uruguay, and Venezuela – we found significant disparities in both low birth weight and preterm birth. Disparities in preterm birth alone were observed in Argentina, Bolivia, and Colombia. Several differences in continuous birth weight, gestational age, and fetal growth rate were also observed. There were no systematic patterns of disparities between the evaluated ethnic ancestry groups across the study countries, in that no racial/ethnic group consistently had the best or worst outcomes in all countries. Conclusions Racial/ethnic disparities in infant health are common in several South American countries. Differences across countries suggest that racial/ethnic disparities are driven by social and economic mechanisms. Researchers and policymakers should acknowledge these disparities and develop research and policy programs to effectively target them. PMID:25542227

  3. No evidence of Neandertal admixture in the mitochondrial genomes of early European modern humans and contemporary Europeans.

    Science.gov (United States)

    Ghirotto, Silvia; Tassi, Francesca; Benazzo, Andrea; Barbujani, Guido

    2011-10-01

    Neandertals, the archaic human form documented in Eurasia until 29,000 years ago, share no mitochondrial haplotype with modern Europeans. Whether this means that the two groups were reproductively isolated is controversial, and indeed nuclear data have been interpreted as suggesting that they admixed. We explored the range of demographic parameters that may have generated the observed mitochondrial diversity, simulating 3.0 million genealogies under six models differing as for the relationships among contemporary Europeans, Neandertals, and Upper Palaeolithic European early modern humans (EEMH), who coexisted with Neandertals for millennia. We compared by Approximate Bayesian Computations the simulation results with mitochondrial diversity in 7 Neandertals, 3 EEMH, and 150 opportunely chosen modern Europeans. A model of genealogical continuity between EEMH and contemporary Europeans, with no Neandertal contribution, received overwhelming support from the analyses. The maximum degree of Neandertal admixture, under the model of gene flow supported by nuclear data, was estimated at 1.5%, but this model proved 20-32 times less likely than a model without any gene flow. Nuclear and mitochondrial evidence might be reconciled if smaller population sizes led to faster lineage sorting for mitochondrial DNA, and Neandertals shared a longer period of common ancestry with the non-African's than with the African's ancestors. Copyright © 2011 Wiley-Liss, Inc.

  4. Platinum-group elements and oxidation condition of Paleozoic sub-continental lithospheric mantle in southernmost South America: Xenolith study in the Pali-Aike Region, Chile

    Science.gov (United States)

    Wang, J.; Hattori, K. H.; Stern, C.

    2004-12-01

    Mantle xenoliths are abundant in Quarternary alkaline basalts in the Pali-Aike area of southernmost South America. The area is in the Andean back-arc region and most samples were derived from the depth of >60 km. There are two types of mantle xenoliths: cumulates of partial melt and mantle residues. The former are pyroxenites (orthopyroxenite, websterite) and contains significant contents of globular sulfides (>0.1 %), Mg-ilmenite (> 1 %), and Phl (> 2 %). The bulk rocks are low in PGE, 2.20-15.5 ppb, and show positive-sloped mantle-normalized patterns, similar to host basalts. This confirms the incompatible nature of Pt group PGE. Ol websterite, which shows low P and T, ˜ 15 kb and 780° C, has the highest Mg# (0.74) and lowest Cr#sp ( ˜0.186) and has fO2 similar to FMQ buffer, representing a relatively shallow cumulate of partial melt. The mantle residues are Grt lherzolite, Grt-Spl lherzolite and Grt-Spl harzburgite. Grt lherzolite and Grt-Spl lherzolite have high CaO (2.43-3.33wt %) and Al2O3(3.14- 4.18 wt %), whereas Grt-Spl harzburgites are low in CaO (0.99-1.21wt %). Sulfides are rare, and occur as inclusions in Ol and Opx, and as films along boundaries of silicate and oxide minerals. Some harzburgites are modally metasomatized by partial melt, forming Phl and Prg amphibole. The melt itself was solidified into ilmenite- and sulfide-rich pyroxenite veinlets. The calculation of fO2 using the Sp-Ol-Opx equilibria shows that the fertile garnet-bearing peridotites are reduced, Δ fO2 ranging from FMQ-0.50 to -0.20 with the Cr#sp from 0.29 to 0.30, similar to those in oceanic peridotites. Depleted harzburgites have slightly elevated, but comparable fO2 (FMQ-0.36 -FMQ+0.39) and Cr#sp (0.28-0.33). The mantle residues contain total PGE ranging from 6.92 to 22.1 ppb, slightly lower than the primitive mantle value, but show flat normalized patterns. Metasomatized harzburgites contain comparable Cu and total PGE contents as anhydrous peridotites. The data suggest that

  5. Evaluation of HapMap data in six populations of European descent.

    NARCIS (Netherlands)

    Lundmark, P.E.; Liljedahl, U.; Boomsma, D.I.; Mannila, H.; Martin, N.G.; Palotie, A.; Peltonen, L.; Perola, M.; Spector, T.D.; Syvänen, A.C.

    2008-01-01

    We studied how well the European CEU samples used in the Haplotype Mapping Project (HapMap) represent five European populations by analyzing nuclear family samples from the Swedish, Finnish, Dutch, British and Australian (European ancestry) populations. The number of samples from each population

  6. A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe

    Science.gov (United States)

    Khrunin, Andrey V.; Khokhrin, Denis V.; Filippova, Irina N.; Esko, Tõnu; Nelis, Mari; Bebyakova, Natalia A.; Bolotova, Natalia L.; Klovins, Janis; Nikitina-Zake, Liene; Rehnström, Karola; Ripatti, Samuli; Schreiber, Stefan; Franke, Andre; Macek, Milan; Krulišová, Veronika; Lubinski, Jan; Metspalu, Andres; Limborska, Svetlana A.

    2013-01-01

    Several studies examined the fine-scale structure of human genetic variation in Europe. However, the European sets analyzed represent mainly northern, western, central, and southern Europe. Here, we report an analysis of approximately 166,000 single nucleotide polymorphisms in populations from eastern (northeastern) Europe: four Russian populations from European Russia, and three populations from the northernmost Finno-Ugric ethnicities (Veps and two contrast groups of Komi people). These were compared with several reference European samples, including Finns, Estonians, Latvians, Poles, Czechs, Germans, and Italians. The results obtained demonstrated genetic heterogeneity of populations living in the region studied. Russians from the central part of European Russia (Tver, Murom, and Kursk) exhibited similarities with populations from central–eastern Europe, and were distant from Russian sample from the northern Russia (Mezen district, Archangelsk region). Komi samples, especially Izhemski Komi, were significantly different from all other populations studied. These can be considered as a second pole of genetic diversity in northern Europe (in addition to the pole, occupied by Finns), as they had a distinct ancestry component. Russians from Mezen and the Finnic-speaking Veps were positioned between the two poles, but differed from each other in the proportions of Komi and Finnic ancestries. In general, our data provides a more complete genetic map of Europe accounting for the diversity in its most eastern (northeastern) populations. PMID:23505534

  7. European multicentre evaluation of the Du Pont Dimension 380 under the auspices of the European Group for the Evaluation of Analytical Systems in Laboratory Medicine (EGE-Lab).

    Science.gov (United States)

    Hänseler, E; Vonderschmitt, D; Haeckel, R; Römer, M; Collombel, C; Goudable, J; Pourcher, E

    1991-01-01

    The Clinical Chemistry Analyzer Dimension 380 manufactured by Du Pont de Nemours was tested in a multicentre evaluation according to the guide-lines of the European Committee for Clinical Laboratory Standards (ECCLS) and in part to the protocol of the Société Française de Biologie Clinique (SFBC). The instrument and the reagents were evaluated as a system, since both reagents and reagent cartridges are specifically designed for the instrument. Fourteen analytes including electrolytes, substrates and enzymes were tested. The evaluators summarized their experience as follows: 1. All parameters tested yield results comparable to established procedures. 2. Very good performance of the ion-selective-electrode unit. 3. The imprecision data of the system are, for most parameters, between 1 and 4% CV and thus equal to or better than those of the instruments compared. 4. No reagent or sample carry-over was detected after a minor modification of the instrument. 5. The linearity of Dimension test methods in general covers the range stated by the manufacturer. 6. Very good stability of the calibration curves (up to 2 months). 7. Good practicability of the whole system, including handling of reagents and a very user-friendly software.

  8. Variation and functional impact of Neanderthal ancestry in Western Asia.

    Science.gov (United States)

    Taskent, Recep Ozgur; Alioglu, Duha; Fer, Evrim; Donertas, Handan Melike; Somel, Mehmet; Gokcumen, Omer

    2017-10-13

    Neanderthals contributed genetic material to modern humans via multiple admixture events. Initial admixture events presumably occurred in Western Asia shortly after humans migrated out-of-Africa. Despite being a focal point of admixture, earlier studies indicate lower Neanderthal introgression rates in some Western Asian populations as compared to other Eurasian populations. To better understand the genome-wide and phenotypic impact of Neanderthal introgression in the region, we sequenced whole genomes of 10 present-day Europeans, Africans, and the Western Asian Druze at high depth, and analyzed available whole genome data from various other populations, including 16 genomes from present-day Turkey. Our results confirmed previous observations that contemporary Western Asian populations, on average, have lower levels of Neanderthal-introgressed DNA relative to other Eurasian populations. Modern Western Asians also show comparatively high variability in Neanderthal ancestry, which may be attributed to the complex demographic history of the region. We further replicated the previously described depletion of putatively functional sequences among Neanderthal-introgressed haplotypes. Still, we find dozens of common Neanderthal-introgressed haplotypes in the Turkish sample associated with human phenotypes, including anthropometric and metabolic traits, as well as the immune response. One of these haplotypes is unusually long and harbors variants that affect the expression of members of the CCR gene family and are associated with celiac disease. Overall, our results paint a complex first picture of the genomic impact of Neanderthal introgression in the Western Asian populations. © The Author(s) 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  9. Amerindian ancestry and extended longevity in Nicoya, Costa Rica.

    Science.gov (United States)

    Azofeifa, Jorge; Ruiz-Narváez, Edward A; Leal, Alejandro; Gerlovin, Hanna; Rosero-Bixby, Luis

    2018-01-01

    The aim of this study was to address the hypothesis that Amerindian ancestry is associated with extended longevity in the admixed population of Nicoya, Costa Rica. The Nicoya Peninsula of Costa Rica has been considered a "longevity island," particularly for males. We estimated Amerindian ancestry using 464 ancestral informative markers in 20 old Nicoyans aged ≥99 years, and 20 younger Nicoyans (60-65 years). We used logistic regression to estimate odds ratio (OR) and 95% confidence interval (CI) of the association of Amerindian ancestry and longevity. Older Nicoyans had higher Amerindian ancestry compared to younger Nicoyans (43.3% vs 36.0%, P = .04). Each 10% increase of Amerindian ancestry was associated with more than twice the odds of being long-lived (OR = 2.32, 95% CI = 1.03-5.25). To our knowledge, this is the first time that ancestry is implicated as a likely determinant of extended longevity. Amerindian-specific alleles may protect against early mortality. The identification of these protective alleles should be the focus of future studies. © 2017 Wiley Periodicals, Inc.

  10. The Interaction between Genetic Ancestry and Breast Cancer Risk Factors among Hispanic Women: The Breast Cancer Health Disparities Study.

    Science.gov (United States)

    Hines, Lisa M; Sedjo, Rebecca L; Byers, Tim; John, Esther M; Fejerman, Laura; Stern, Mariana C; Baumgartner, Kathy B; Giuliano, Anna R; Torres-Mejia, Gabriela; Wolff, Roger K; Harrall, Kylie K; Slattery, Martha L

    2017-05-01

    Background: Hispanic women have lower breast cancer incidence rates than non-Hispanic white (NHW) women. To what extent genetic versus nongenetic factors account for this difference is unknown. Methods: Using logistic regression, we evaluated the interactive influences of established risk factors and ethnicity (self-identified and identified by ancestral informative markers) on breast cancer risk among 2,326 Hispanic and 1,854 NHW postmenopausal women from the United States and Mexico in the Breast Cancer Health Disparities Study. Results: The inverse association between the percentage of Native American (NA) ancestry and breast cancer risk was only slightly attenuated after adjusting for known risk factors [lowest versus highest quartile: odds ratio (OR) =1.39, 95% confidence interval (CI) = 1.00-1.92 among U.S. Hispanics; OR = 1.92 (95% CI, 1.29-2.86) among Mexican women]. The prevalence of several risk factors, as well as the associations with certain factors and breast cancer risk, differed according to genetic admixture. For example, higher body mass index (BMI) was associated with reduced risk among women with lower NA ancestry only [BMI 30: OR = 0.65 (95% CI, 0.44-0.98) among U.S. Hispanics; OR = 0.53 (95% CI, 0.29-0.97) among Mexicans]. The average number of risk factors among cases was inversely related to the percentage of NA ancestry. Conclusions: The lower NA ancestry groups were more likely to have the established risk factors, with the exception of BMI. Although the majority of factors were associated with risk in the expected directions among all women, BMI had an inverse association among Hispanics with lower NA ancestry. Impact: These data suggest that the established risk factors are less relevant for breast cancer development among women with more NA ancestry. Cancer Epidemiol Biomarkers Prev; 26(5); 692-701. ©2016 AACR . ©2016 American Association for Cancer Research.

  11. High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.

    Science.gov (United States)

    Kim, Kwangwoo; Bang, So-Young; Lee, Hye-Soon; Cho, Soo-Kyung; Choi, Chan-Bum; Sung, Yoon-Kyoung; Kim, Tae-Hwan; Jun, Jae-Bum; Yoo, Dae Hyun; Kang, Young Mo; Kim, Seong-Kyu; Suh, Chang-Hee; Shim, Seung-Cheol; Lee, Shin-Seok; Lee, Jisoo; Chung, Won Tae; Choe, Jung-Yoon; Shin, Hyoung Doo; Lee, Jong-Young; Han, Bok-Ghee; Nath, Swapan K; Eyre, Steve; Bowes, John; Pappas, Dimitrios A; Kremer, Joel M; Gonzalez-Gay, Miguel A; Rodriguez-Rodriguez, Luis; Ärlestig, Lisbeth; Okada, Yukinori; Diogo, Dorothée; Liao, Katherine P; Karlson, Elizabeth W; Raychaudhuri, Soumya; Rantapää-Dahlqvist, Solbritt; Martin, Javier; Klareskog, Lars; Padyukov, Leonid; Gregersen, Peter K; Worthington, Jane; Greenberg, Jeffrey D; Plenge, Robert M; Bae, Sang-Cheol

    2015-03-01

    A highly polygenic aetiology and high degree of allele-sharing between ancestries have been well elucidated in genetic studies of rheumatoid arthritis. Recently, the high-density genotyping array Immunochip for immune disease loci identified 14 new rheumatoid arthritis risk loci among individuals of European ancestry. Here, we aimed to identify new rheumatoid arthritis risk loci using Korean-specific Immunochip data. We analysed Korean rheumatoid arthritis case-control samples using the Immunochip and genome-wide association studies (GWAS) array to search for new risk alleles of rheumatoid arthritis with anticitrullinated peptide antibodies. To increase power, we performed a meta-analysis of Korean data with previously published European Immunochip and GWAS data for a total sample size of 9299 Korean and 45,790 European case-control samples. We identified eight new rheumatoid arthritis susceptibility loci (TNFSF4, LBH, EOMES, ETS1-FLI1, COG6, RAD51B, UBASH3A and SYNGR1) that passed a genome-wide significance threshold (p<5×10(-8)), with evidence for three independent risk alleles at 1q25/TNFSF4. The risk alleles from the seven new loci except for the TNFSF4 locus (monomorphic in Koreans), together with risk alleles from previously established RA risk loci, exhibited a high correlation of effect sizes between ancestries. Further, we refined the number of single nucleotide polymorphisms (SNPs) that represent potentially causal variants through a trans-ethnic comparison of densely genotyped SNPs. This study demonstrates the advantage of dense-mapping and trans-ancestral analysis for identification of potentially causal SNPs. In addition, our findings support the importance of T cells in the pathogenesis and the fact of frequent overlap of risk loci among diverse autoimmune diseases. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  12. Recent Ancestry of Kyasanur Forest Disease Virus

    Science.gov (United States)

    Mehla, Rajeev; Kumar, Sandeep R.P.; Yadav, Pragya; Barde, Pradip V.; Yergolkar, Prasanna N.; Erickson, Bobbie R.; Carroll, Serena A.; Mishra, Akhilesh C.; Nichol, Stuart T.

    2009-01-01

    Kyasanur Forest disease virus (KFDV) is enzootic to India and maintained in ticks, mammals, and birds. It causes severe febrile illness in humans and was first recognized in 1957 associated with a high number of deaths among monkeys in Kyasanur Forest. Genetic analysis of 48 viruses isolated in India during 1957–2006 showed low diversity (1.2%). Bayesian coalescence analysis of these sequences and those of KFDVs from Saudi Arabia and the People’s Republic of China estimated that KFDVs have evolved at a mean rate of ≈6.4 × 10–4 substitutions/site/year, which is similar to rates estimated for mosquito-borne flaviviruses. KFDVs were estimated to have shared a common ancestor in ≈1942, fifteen years before identification of the disease in India. These data are consistent with the view that KFD represented a newly emerged disease when first recognized. Recent common ancestry of KFDVs from India and Saudi Arabia, despite their large geographic separation, indicates long-range movement of virus, possibly by birds. PMID:19788811

  13. Traditional low-alcoholic and non-alcoholic fermented beverages consumed in European countries: a neglected food group.

    Science.gov (United States)

    Baschali, Aristea; Tsakalidou, Effie; Kyriacou, Adamantini; Karavasiloglou, Nena; Matalas, Antonia-Leda

    2017-06-01

    Fermented beverages hold a long tradition and contribution to the nutrition of many societies and cultures worldwide. Traditional fermentation has been empirically developed in ancient times as a process of raw food preservation and at the same time production of new foods with different sensorial characteristics, such as texture, flavour and aroma, as well as nutritional value. Low-alcoholic fermented beverages (LAFB) and non-alcoholic fermented beverages (NAFB) represent a subgroup of fermented beverages that have received rather little attention by consumers and scientists alike, especially with regard to their types and traditional uses in European societies. A literature review was undertaken and research articles, review papers and textbooks were searched in order to retrieve data regarding the dietary role, nutrient composition, health benefits and other relevant aspects of diverse ethnic LAFB and NAFB consumed by European populations. A variety of traditional LAFB and NAFB consumed in European regions, such as kefir, kvass, kombucha and hardaliye, are presented. Milk-based LAFB and NAFB are also available on the market, often characterised as 'functional' foods on the basis of their probiotic culture content. Future research should focus on elucidating the dietary role and nutritional value of traditional and 'functional' LAFB and NAFB, their potential health benefits and consumption trends in European countries. Such data will allow for LAFB and NAFB to be included in national food composition tables.

  14. Effect of nationwide tobacco control policies on smoking cessation in high and low educated groups in 18 European countries

    NARCIS (Netherlands)

    Schaap, M. M.; Kunst, A. E.; Leinsalu, M.; Regidor, E.; Ekholm, O.; Dzurova, D.; Helmert, U.; Klumbiene, J.; Santana, P.; Mackenbach, J. P.

    2008-01-01

    BACKGROUND: Recently a scale was introduced to quantify the implementation of tobacco control policies at country level. Our study used this scale to examine the potential impact of these policies on quit ratios in European countries. Special attention was given to smoking cessation among lower

  15. The future of UK/Irish surgery: A European solution.

    Science.gov (United States)

    Varzgalis, M; Kerin, M J; Sweeney, K J

    2015-11-01

    The United Kingdom (UK) and Republic of Ireland (ROI) hospital systems are dependent on junior doctors for their functionality however it is increasingly difficult to recruit UK/ROI trained doctors to fill these posts. Directive 2005/36/EC, which came into force in 2007, is the principal European legislation on the recognition of equivalence of professional qualifications across Europe. European trained doctors are therefore attractive candidates for junior doctor posts. However, although their training is recognised as equivalent by the Irish Medical Council (IMC) and General Medical Council (GMC) they are not being appointed to equivalent posts by the Health Service Executive (HSE) or National Health Service (NHS). With the influence of European Union (EU) centralisation, modification of UK/ROI consultant grade is imminent, possibly to pyramidal structure of the Continental European model with clearer lines of corporate responsibility. Copyright © 2015 IJS Publishing Group Limited. Published by Elsevier Ltd. All rights reserved.

  16. Cardiovascular pre-participation screening of young competitive athletes for prevention of sudden death: proposal for a common European protocol. Consensus Statement of the Study Group of Sport Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology.

    Science.gov (United States)

    Corrado, Domenico; Pelliccia, Antonio; Bjørnstad, Hans Halvor; Vanhees, Luc; Biffi, Alessandro; Borjesson, Mats; Panhuyzen-Goedkoop, Nicole; Deligiannis, Asterios; Solberg, Erik; Dugmore, Dorian; Mellwig, Klaus P; Assanelli, Deodato; Delise, Pietro; van-Buuren, Frank; Anastasakis, Aris; Heidbuchel, Hein; Hoffmann, Ellen; Fagard, Robert; Priori, Silvia G; Basso, Cristina; Arbustini, Eloisa; Blomstrom-Lundqvist, Carina; McKenna, William J; Thiene, Gaetano

    2005-03-01

    The 1996 American Heart Association consensus panel recommendations stated that pre-participation cardiovascular screening for young competitive athletes is justifiable and compelling on ethical, legal, and medical grounds. The present article represents the consensus statement of the Study Group on Sports Cardiology of the Working Group on Cardiac Rehabilitation and Exercise Physiology and the Working Group on Myocardial and Pericardial diseases of the European Society of Cardiology, which comprises cardiovascular specialists and other physicians from different European countries with extensive clinical experience with young competitive athletes, as well as with pathological substrates of sudden death. The document takes note of the 25-year Italian experience on systematic pre-participation screening of competitive athletes and focuses on relevant issues, mostly regarding the relative risk, causes, and prevalence of sudden death in athletes; the efficacy, feasibility, and cost-effectiveness of population-based pre-participation cardiovascular screening; the key role of 12-lead ECG for identification of cardiovascular diseases such as cardiomyopathies and channelopathies at risk of sudden death during sports; and the potential of preventing fatal events. The main purpose of the consensus document is to reinforce the principle of the need for pre-participation medical clearance of all young athletes involved in organized sports programmes, on the basis of (i) the proven efficacy of systematic screening by 12-lead ECG (in addition to history and physical examination) to identify hypertrophic cardiomyopathy-the leading cause of sports-related sudden death-and to prevent athletic field fatalities; (ii) the potential screening ability in detecting other lethal cardiovascular diseases presenting with ECG abnormalities. The consensus document recommends the implementation of a common European screening protocol essentially based on 12-lead ECG.

  17. Genetic Ancestry of the Extinct Javan and Bali Tigers

    Science.gov (United States)

    Xue, Hao-Ran; Yamaguchi, Nobuyuki; Driscoll, Carlos A.; Han, Yu; Bar-Gal, Gila Kahila; Zhuang, Yan; Mazak, Ji H.; Macdonald, David W.; O’Brien, Stephen J.

    2015-01-01

    The Bali (Panthera tigris balica) and Javan (P. t. sondaica) tigers are recognized as distinct tiger subspecies that went extinct in the 1940s and 1980s, respectively. Yet their genetic ancestry and taxonomic status remain controversial. Following ancient DNA procedures, we generated concatenated 1750bp mtDNA sequences from 23 museum samples including 11 voucher specimens from Java and Bali and compared these to diagnostic mtDNA sequences from 122 specimens of living tiger subspecies and the extinct Caspian tiger. The results revealed a close genetic affinity of the 3 groups from the Sunda Islands (Bali, Javan, and Sumatran tigers P. t. sumatrae). Bali and Javan mtDNA haplotypes differ from Sumatran haplotypes by 1–2 nucleotides, and the 3 island populations define a monophyletic assemblage distinctive and equidistant from other mainland subspecies. Despite this close phylogenetic relationship, no mtDNA haplotype was shared between Sumatran and Javan/Bali tigers, indicating little or no matrilineal gene flow among the islands after they were colonized. The close phylogenetic relationship among Sunda tiger subspecies suggests either recent colonization across the islands, or else a once continuous tiger population that had subsequently isolated into different island subspecies. This supports the hypothesis that the Sumatran tiger is the closest living relative to the extinct Javan and Bali tigers. PMID:25754539

  18. Genetic ancestry of the extinct Javan and Bali tigers.

    Science.gov (United States)

    Xue, Hao-Ran; Yamaguchi, Nobuyuki; Driscoll, Carlos A; Han, Yu; Bar-Gal, Gila Kahila; Zhuang, Yan; Mazak, Ji H; Macdonald, David W; O'Brien, Stephen J; Luo, Shu-Jin

    2015-01-01

    The Bali (Panthera tigris balica) and Javan (P. t. sondaica) tigers are recognized as distinct tiger subspecies that went extinct in the 1940s and 1980s, respectively. Yet their genetic ancestry and taxonomic status remain controversial. Following ancient DNA procedures, we generated concatenated 1750bp mtDNA sequences from 23 museum samples including 11 voucher specimens from Java and Bali and compared these to diagnostic mtDNA sequences from 122 specimens of living tiger subspecies and the extinct Caspian tiger. The results revealed a close genetic affinity of the 3 groups from the Sunda Islands (Bali, Javan, and Sumatran tigers P. t. sumatrae). Bali and Javan mtDNA haplotypes differ from Sumatran haplotypes by 1-2 nucleotides, and the 3 island populations define a monophyletic assemblage distinctive and equidistant from other mainland subspecies. Despite this close phylogenetic relationship, no mtDNA haplotype was shared between Sumatran and Javan/Bali tigers, indicating little or no matrilineal gene flow among the islands after they were colonized. The close phylogenetic relationship among Sunda tiger subspecies suggests either recent colonization across the islands, or else a once continuous tiger population that had subsequently isolated into different island subspecies. This supports the hypothesis that the Sumatran tiger is the closest living relative to the extinct Javan and Bali tigers. © The American Genetic Association 2015. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  19. Pregnancy, parturition and preeclampsia in women of African ancestry.

    Science.gov (United States)

    Nakimuli, Annettee; Chazara, Olympe; Byamugisha, Josaphat; Elliott, Alison M; Kaleebu, Pontiano; Mirembe, Florence; Moffett, Ashley

    2014-06-01

    Maternal and associated neonatal mortality rates in sub-Saharan Africa remain unacceptably high. In Mulago Hospital (Kampala, Uganda), 2 major causes of maternal death are preeclampsia and obstructed labor and their complications, conditions occurring at the extremes of the birthweight spectrum, a situation encapsulated as the obstetric dilemma. We have questioned whether the prevalence of these disorders occurs more frequently in indigenous African women and those with African ancestry elsewhere in the world by reviewing available literature. We conclude that these women are at greater risk of preeclampsia than other racial groups. At least part of this susceptibility seems independent of socioeconomic status and likely is due to biological or genetic factors. Evidence for a genetic contribution to preeclampsia is discussed. We go on to propose that the obstetric dilemma in humans is responsible for this situation and discuss how parturition and birthweight are subject to stabilizing selection. Other data we present also suggest that there are particularly strong evolutionary selective pressures operating during pregnancy and delivery in Africans. There is much greater genetic diversity and less linkage disequilibrium in Africa, and the genes responsible for regulating birthweight and placentation may therefore be easier to define than in non-African cohorts. Inclusion of African women into research on preeclampsia is an essential component in tackling this major disparity of maternal health. Copyright © 2014 Mosby, Inc. All rights reserved.

  20. Carbon dioxide in European coastal waters

    NARCIS (Netherlands)

    Borges, A.V.; Schiettecatte, L.-S.; Abril, G.; Delille, B.; Gazeau, F.P.H.

    2006-01-01

    We compiled from literature annually integrated air–water fluxes of carbon dioxide (CO2) computed from field measurements, in 20 coastal European environments that were gathered into 3 main ecosystems: inner estuaries, upwelling continental shelves and non-upwelling continental shelves. The

  1. Length and Time Scales in Continental Drift

    Science.gov (United States)

    Phillips, B. R.; Bunge, H.

    2003-12-01

    insights toward understanding the motion of several continents to study the aggregation and dispersal of continental groups.

  2. The development of quality circles/peer review groups as a method of quality improvement in Europe. Results of a survey in 26 European countries.

    Science.gov (United States)

    Beyer, M; Gerlach, F M; Flies, U; Grol, R; Król, Z; Munck, A; Olesen, F; O'Riordan, M; Seuntjens, L; Szecsenyi, J

    2003-08-01

    Peer review groups (PRGs) and quality circles (QCs) commenced in The Netherlands and have grown to become an important method of quality improvement in primary care in several other European countries. Our aim was to provide an overview of QC/PRG activities and exemplary programmes in European countries. A survey was performed in three consecutive steps by EQuiP (European Working Party on Quality in Family Practice), which is a representative association of experts from 26 European countries. The national representatives initially completed a structured questionnaire documenting the number and objectives of QCs/PRGs, sources of support and special programmes in their countries (step 1). In step 2, these sources were used to extend and validate the expert statements. Step 3 studied paradigmatic initiatives in depth. Step 1 took place in 2000; the response rate was 100% (26 countries). QCs/PRGs were very active in 10 countries; 16 countries showed little or no activity. Participation ranged from quality of care.

  3. Ancient human genomes suggest three ancestral populations for present-day Europeans

    Science.gov (United States)

    Lazaridis, Iosif; Patterson, Nick; Mittnik, Alissa; Renaud, Gabriel; Mallick, Swapan; Kirsanow, Karola; Sudmant, Peter H.; Schraiber, Joshua G.; Castellano, Sergi; Lipson, Mark; Berger, Bonnie; Economou, Christos; Bollongino, Ruth; Fu, Qiaomei; Bos, Kirsten I.; Nordenfelt, Susanne; Li, Heng; de Filippo, Cesare; Prüfer, Kay; Sawyer, Susanna; Posth, Cosimo; Haak, Wolfgang; Hallgren, Fredrik; Fornander, Elin; Rohland, Nadin; Delsate, Dominique; Francken, Michael; Guinet, Jean-Michel; Wahl, Joachim; Ayodo, George; Babiker, Hamza A.; Bailliet, Graciela; Balanovska, Elena; Balanovsky, Oleg; Barrantes, Ramiro; Bedoya, Gabriel; Ben-Ami, Haim; Bene, Judit; Berrada, Fouad; Bravi, Claudio M.; Brisighelli, Francesca; Busby, George B. J.; Cali, Francesco; Churnosov, Mikhail; Cole, David E. C.; Corach, Daniel; Damba, Larissa; van Driem, George; Dryomov, Stanislav; Dugoujon, Jean-Michel; Fedorova, Sardana A.; Romero, Irene Gallego; Gubina, Marina; Hammer, Michael; Henn, Brenna M.; Hervig, Tor; Hodoglugil, Ugur; Jha, Aashish R.; Karachanak-Yankova, Sena; Khusainova, Rita; Khusnutdinova, Elza; Kittles, Rick; Kivisild, Toomas; Klitz, William; Kučinskas, Vaidutis; Kushniarevich, Alena; Laredj, Leila; Litvinov, Sergey; Loukidis, Theologos; Mahley, Robert W.; Melegh, Béla; Metspalu, Ene; Molina, Julio; Mountain, Joanna; Näkkäläjärvi, Klemetti; Nesheva, Desislava; Nyambo, Thomas; Osipova, Ludmila; Parik, Jüri; Platonov, Fedor; Posukh, Olga; Romano, Valentino; Rothhammer, Francisco; Rudan, Igor; Ruizbakiev, Ruslan; Sahakyan, Hovhannes; Sajantila, Antti; Salas, Antonio; Starikovskaya, Elena B.; Tarekegn, Ayele; Toncheva, Draga; Turdikulova, Shahlo; Uktveryte, Ingrida; Utevska, Olga; Vasquez, René; Villena, Mercedes; Voevoda, Mikhail; Winkler, Cheryl; Yepiskoposyan, Levon; Zalloua, Pierre; Zemunik, Tatijana; Cooper, Alan; Capelli, Cristian; Thomas, Mark G.; Ruiz-Linares, Andres; Tishkoff, Sarah A.; Singh, Lalji; Thangaraj, Kumarasamy; Villems, Richard; Comas, David; Sukernik, Rem; Metspalu, Mait; Meyer, Matthias; Eichler, Evan E.; Burger, Joachim; Slatkin, Montgomery; Pääbo, Svante; Kelso, Janet; Reich, David; Krause, Johannes

    2014-01-01

    We sequenced the genomes of a ~7,000 year old farmer from Germany and eight ~8,000 year old hunter-gatherers from Luxembourg and Sweden. We analyzed these and other ancient genomes1–4 with 2,345 contemporary humans to show that most present Europeans derive from at least three highly differentiated populations: West European Hunter-Gatherers (WHG), who contributed ancestry to all Europeans but not to Near Easterners; Ancient North Eurasians (ANE) related to Upper Paleolithic Siberians3, who contributed to both Europeans and Near Easterners; and Early European Farmers (EEF), who were mainly of Near Eastern origin but also harbored WHG-related ancestry. We model these populations’ deep relationships and show that EEF had ~44% ancestry from a “Basal Eurasian” population that split prior to the diversification of other non-African lineages. PMID:25230663

  4. The landscape of Neandertal ancestry in present-day humans

    Science.gov (United States)

    Sankararaman, Sriram; Mallick, Swapan; Dannemann, Michael; Prüfer, Kay; Kelso, Janet; Pääbo, Svante; Patterson, Nick; Reich, David

    2014-01-01

    Analyses of Neandertal genomes have revealed that Neandertals have contributed genetic variants to modern humans1–2. The antiquity of Neandertal gene flow into modern humans means that regions that derive from Neandertals in any one human today are usually less than a hundred kilobases in size. However, Neandertal haplotypes are also distinctive enough that several studies have been able to detect Neandertal ancestry at specific loci1,3–8. Here, we have systematically inferred Neandertal haplotypes in the genomes of 1,004 present-day humans12. Regions that harbor a high frequency of Neandertal alleles in modern humans are enriched for genes affecting keratin filaments suggesting that Neandertal alleles may have helped modern humans adapt to non-African environments. Neandertal alleles also continue to shape human biology, as we identify multiple Neandertal-derived alleles that confer risk for disease. We also identify regions of millions of base pairs that are nearly devoid of Neandertal ancestry and enriched in genes, implying selection to remove genetic material derived from Neandertals. Neandertal ancestry is significantly reduced in genes specifically expressed in testis, and there is an approximately 5-fold reduction of Neandertal ancestry on chromosome X, which is known to harbor a disproportionate fraction of male hybrid sterility genes20–22. These results suggest that part of the reduction in Neandertal ancestry near genes is due to Neandertal alleles that reduced fertility in males when moved to a modern human genetic background. PMID:24476815

  5. An otolith microchemistry study of possible relationships between the origins of leptocephali of European eels in the Sargasso Sea and the continental destinations and relative migration success of glass eels

    DEFF Research Database (Denmark)

    Martin, J.; Daverat, F.; Pécheyran, C.

    2010-01-01

    Little is known about the extent to which Atlantic eels coming from different European rivers converge on the same spawning site. Our aim was to evaluate the spatial homogeneity of eel spawning area(s) with an otolith microchemistry approach. This work compared the elemental signatures of otolith...

  6. The basins on the Argentine continental margin

    Energy Technology Data Exchange (ETDEWEB)

    Urien, C.M. [Buenos Aires Technological Institute Petroleum School, Buenos Aires (Argentina)

    1996-08-01

    After the stabilization of the central Gondwana Craton, orogenic belts were accreted, as a result of convergence events and an extensive passive margin developed in southwestern Gondwana. Thermal subsidence in Parana, Karoo-Ventania basins and the Late Paleozoic-Early Mesozoic rifts, were modified by the Gondwana breakup and the South Atlantic opening. Early Paleozoic marine transgressions deposited the Table Mountain Group in Ventania. In southwestern Patagonia foreland clastics were deposited. Magmatic arcs and marine units indicate a tectonic trough was formed, alternating with continental sequences, over Late Paleozoic metamorphics and intrusives, resulting from plastered terrains along the Gondwana margin. In Patagonia, Permo-Carboniferous continental and glacio marine clastics infill the basins, while in Ventania, paralic sequences, grade from neritic to continental to the northeast, extending beneath the continental margin. The Triassic-Jurassic rift basins progressed onto regional widespread acid lavas and were infilled by lagoonal organic-rich sequences. Early drift phase built basins transverse to the margin, with fluvio-lacustrine sequences: Salado, Colorado, Valdes-Rawson, San Julian and North Malvinas intracratonic basins, which underwent transtensional faulting. Post-Oxfordian to Neocomian brackish sequences, onlapped the conjugate basins during the margin`s drift, with petroleum systems, as in Austral and Malvinas. In the Valanginian, basic extrusions commenced to form on the continental border, heralding the oceanic phase. Due to thermal subsidence, offlaping sediments prograded onto the remaining half-grabens. Several petroleum systems, proven and hypothetical, are identified in this region.

  7. High interpopulation homogeneity in Central Argentina as assessed by Ancestry Informative Markers (AIMs

    Directory of Open Access Journals (Sweden)

    Angelina García

    2015-09-01

    Full Text Available The population of Argentina has already been studied with regard to several genetic markers, but much more data are needed for the appropriate definition of its genetic profile. This study aimed at investigating the admixture patterns and genetic structure in Central Argentina, using biparental markers and comparing the results with those previously obtained by us with mitochondrial DNA (mtDNA in the same samples. A total of 521 healthy unrelated individuals living in 13 villages of the Córdoba and San Luis provinces were tested. The individuals were genotyped for ten autosomal ancestry informative markers (AIMs. Allele frequencies were compared with those of African, European and Native American populations, chosen to represent parental contributions. The AIM estimates indicated a greater influence of the Native American ancestry as compared to previous studies in the same or other Argentinean regions, but smaller than that observed with the mtDNA tests. These differences can be explained, respectively, by different genetic contributions between rural and urban areas, and asymmetric gene flow occurred in the past. But a most unexpected finding was the marked interpopulation genetic homogeneity found in villages located in diverse geographic environments across a wide territory, suggesting considerable gene flow.

  8. Late Devonian and Triassic basalts from the southern continental ...

    Indian Academy of Sciences (India)

    In Late Devonian and Early-to-Late Triassic times, the southern continental margin of the Eastern European Platform was the site of a basaltic volcanism in the Donbas and Fore-Caucasus areas respectively. Both volcanic piles rest unconformably upon Paleoproterozoic and Late Paleozoic units respectively, and emplaced ...

  9. Characterizing the genetic differences between two distinct migrant groups from Indo-European and Dravidian speaking populations in India.

    Science.gov (United States)

    Ali, Mohammad; Liu, Xuanyao; Pillai, Esakimuthu Nisha; Chen, Peng; Khor, Chiea-Chuen; Ong, Rick Twee-Hee; Teo, Yik-Ying

    2014-07-22

    India is home to many ethnically and linguistically diverse populations. It is hypothesized that history of invasions by people from Persia and Central Asia, who are referred as Aryans in Hindu Holy Scriptures, had a defining role in shaping the Indian population canvas. A shift in spoken languages from Dravidian languages to Indo-European languages around 1500 B.C. is central to the Aryan Invasion Theory. Here we investigate the genetic differences between two sub-populations of India consisting of: (1) The Indo-European language speaking Gujarati Indians with genome-wide data from the International HapMap Project; and (2) the Dravidian language speaking Tamil Indians with genome-wide data from the Singapore Genome Variation Project. We implemented three population genetics measures to identify genomic regions that are significantly differentiated between the two Indian populations originating from the north and south of India. These measures singled out genomic regions with: (i) SNPs exhibiting significant variation in allele frequencies in the two Indian populations; and (ii) differential signals of positive natural selection as quantified by the integrated haplotype score (iHS) and cross-population extended haplotype homozygosity (XP-EHH). One of the regions that emerged spans the SLC24A5 gene that has been functionally shown to affect skin pigmentation, with a higher degree of genetic sharing between Gujarati Indians and Europeans. Our finding points to a gene-flow from Europe to north India that provides an explanation for the lighter skin tones present in North Indians in comparison to South Indians.

  10. Communication in a Human biomonitoring study: Focus group work, public engagement and lessons learnt in 17 European countries.

    Science.gov (United States)

    Exley, Karen; Cano, Noemi; Aerts, Dominique; Biot, Pierre; Casteleyn, Ludwine; Kolossa-Gehring, Marike; Schwedler, Gerda; Castaño, Argelia; Angerer, Jürgen; Koch, Holger M; Esteban, Marta; Schoeters, Greet; Den Hond, Elly; Horvat, Milena; Bloemen, Louis; Knudsen, Lisbeth E; Joas, Reinhard; Joas, Anke; Dewolf, Marie-Christine; Van de Mieroop, Els; Katsonouri, Andromachi; Hadjipanayis, Adamos; Cerna, Milena; Krskova, Andrea; Becker, Kerstin; Fiddicke, Ulrike; Seiwert, Margarete; Mørck, Thit A; Rudnai, Peter; Kozepesy, Szilvia; Cullen, Elizabeth; Kellegher, Anne; Gutleb, Arno C; Fischer, Marc E; Ligocka, Danuta; Kamińska, Joanna; Namorado, Sónia; Reis, M Fátima; Lupsa, Ioana-Rodica; Gurzau, Anca E; Halzlova, Katarina; Jajcaj, Michal; Mazej, Darja; Tratnik, Janja Snoj; Huetos, Olga; López, Ana; Berglund, Marika; Larsson, Kristin; Sepai, Ovnair

    2015-08-01

    A communication strategy was developed by The Consortium to Perform Human Biomonitoring on a European Scale (COPHES), as part of its objectives to develop a framework and protocols to enable the collection of comparable human biomonitoring data throughout Europe. The framework and protocols were tested in the pilot study DEMOCOPHES (Demonstration of a study to Coordinate and Perform Human biomonitoring on a European Scale). The aims of the communication strategy were to raise awareness of human biomonitoring, encourage participation in the study and to communicate the study results and their public health significance. It identified the audiences and key messages, documented the procedure for dissemination of results and was updated as the project progressed. A communication plan listed the tools and materials such as press releases, flyers, recruitment letters and information leaflets required for each audience with a time frame for releasing them. Public insight research was used to evaluate the recruitment material, and the feedback was used to improve the documents. Dissemination of results was coordinated in a step by step approach by the participating countries within DEMOCOPHES, taking into account specific national messages according to the needs of each country. Participants received individual results, unless they refused to be informed, along with guidance on what the results meant. The aggregate results and policy recommendations were then communicated to the general public and stakeholders, followed by dissemination at European level. Several lessons were learnt that may assist other future human biomonitoring studies. Recruitment took longer than anticipated and so social scientists, to help with community engagement, should be part of the research team from the start. As a European study, involving multiple countries, additional considerations were needed for the numerous organisations, different languages, cultures, policies and priorities

  11. Explaining the visible and the invisible: Public knowledge of genetics, ancestry, physical appearance and race in Colombia.

    Science.gov (United States)

    Schwartz-Marín, Ernesto; Wade, Peter

    2015-12-01

    Using data from focus groups conducted in Colombia, we explore how educated lay audiences faced with scenarios about ancestry and genetics draw on widespread and dominant notions of nation, race and belonging in Colombia to ascribe ancestry to collectivities and to themselves as individuals. People from a life sciences background tend to deploy idioms of race and genetics more readily than people from a humanities and race-critical background. When they considered individuals, people tempered or domesticated the more mechanistic explanations about racialized physical appearance, ancestry and genetics that were apparent at the collective level. Ideas of the latency and manifestation of invisible traits were an aspect of this domestication. People ceded ultimate authority to genetic science, but deployed it to work alongside what they already knew. Notions of genetic essentialism co-exist with the strategic use of genetic ancestry in ways that both fix and unfix race. Our data indicate the importance of attending to the different epistemological stances through which people define authoritative knowledge and to the importance of distinguishing the scale of resolution at which the question of diversity is being posed.

  12. Systematic Review on N-3 and N-6 Polyunsaturated Fatty Acid Intake in European Countries in Light of the Current Recommendations - Focus on Specific Population Groups.

    Science.gov (United States)

    Sioen, Isabelle; van Lieshout, Lilou; Eilander, Ans; Fleith, Mathilde; Lohner, Szimonetta; Szommer, Alíz; Petisca, Catarina; Eussen, Simone; Forsyth, Stewart; Calder, Philip C; Campoy, Cristina; Mensink, Ronald P

    2017-01-01

    Earlier reviews indicated that in many countries adults, children and adolescents consume on an average less polyunsaturated fatty acids (PUFAs) than recommended by the Food and Agriculture Organisation/World Health Organisation. The intake of total and individual n-3 and n-6 PUFAs in European infants, children, adolescents, elderly and pregnant/lactating women was evaluated systematically. The evaluations were done against recommendations of the European Food Safety Authority. Key Messages: Fifty-three studies from 17 different European countries reported an intake of total n-3 and n-6 PUFAs and/or individual n-3 or n-6 PUFAs in at least one of the specific population groups: 10 in pregnant women, 4 in lactating women, 3 in infants 6-12 months, 6 in children 1-3 years, 11 in children 4-9 years, 8 in adolescents 10-18 years and 11 in elderly >65 years. Mean linoleic acid intake was within the recommendation (4 energy percentage [E%]) in 52% of the countries, with inadequate intakes more likely in lactating women, adolescents and elderly. Mean α-linolenic acid intake was within the recommendation (0.5 E%) in 77% of the countries. In 26% of the countries, mean eicosapentaenoic acid and/or docosahexaenoic acid intake was as recommended. These results indicate that intake of n-3 and n-6 PUFAs may be suboptimal in specific population groups in Europe. © 2017 S. Karger AG, Basel.

  13. Systematic Review on N-3 and N-6 Polyunsaturated Fatty Acid Intake in European Countries in Light of the Current Recommendations – Focus on Specific Population Groups

    Science.gov (United States)

    Sioen, Isabelle; van Lieshout, Lilou; Eilander, Ans; Fleith, Mathilde; Lohner, Szimonetta; Szommer, Alíz; Petisca, Catarina; Eussen, Simone; Forsyth, Stewart; Calder, Philip C.; Campoy, Cristina; Mensink, Ronald P.

    2017-01-01

    Background Earlier reviews indicated that in many countries adults, children and adolescents consume on an average less polyunsaturated fatty acids (PUFAs) than recommended by the Food and Agriculture Organisation/World Health Organisation. Summary The intake of total and individual n-3 and n-6 PUFAs in European infants, children, adolescents, elderly and pregnant/lactating women was evaluated systematically. Results The evaluations were done against recommendations of the European Food Safety Authority. Key Messages Fifty-three studies from 17 different European countries reported an intake of total n-3 and n-6 PUFAs and/or individual n-3 or n-6 PUFAs in at least one of the specific population groups: 10 in pregnant women, 4 in lactating women, 3 in infants 6–12 months, 6 in children 1–3 years, 11 in children 4–9 years, 8 in adolescents 10–18 years and 11 in elderly >65 years. Mean linoleic acid intake was within the recommendation (4 energy percentage [E%]) in 52% of the countries, with inadequate intakes more likely in lactating women, adolescents and elderly. Mean α-linolenic acid intake was within the recommendation (0.5 E%) in 77% of the countries. In 26% of the countries, mean eicosapentaenoic acid and/or docosahexaenoic acid intake was as recommended. These results indicate that intake of n-3 and n-6 PUFAs may be suboptimal in specific population groups in Europe. PMID:28190013

  14. Why do hypertensive patients of African ancestry respond better to calcium blockers and diuretics than to ACE inhibitors and β-adrenergic blockers? A systematic review

    Science.gov (United States)

    2013-01-01

    Background Clinicians are encouraged to take an individualized approach when treating hypertension in patients of African ancestry, but little is known about why the individual patient may respond well to calcium blockers and diuretics, but generally has an attenuated response to drugs inhibiting the renin-angiotensin system and to β-adrenergic blockers. Therefore, we systematically reviewed the factors associated with the differential drug response of patients of African ancestry to antihypertensive drug therapy. Methods Using the methodology of the systematic reviews narrative synthesis approach, we sought for published or unpublished studies that could explain the differential clinical efficacy of antihypertensive drugs in patients of African ancestry. PUBMED, EMBASE, LILACS, African Index Medicus and the Food and Drug Administration and European Medicines Agency databases were searched without language restriction from their inception through June 2012. Results We retrieved 3,763 papers, and included 72 reports that mainly considered the 4 major classes of antihypertensive drugs, calcium blockers, diuretics, drugs that interfere with the renin-angiotensin system and β-adrenergic blockers. Pharmacokinetics, plasma renin and genetic polymorphisms did not well predict the response of patients of African ancestry to antihypertensive drugs. An emerging view that low nitric oxide and high creatine kinase may explain individual responses to antihypertensive drugs unites previous observations, but currently clinical data are very limited. Conclusion Available data are inconclusive regarding why patients of African ancestry display the typical response to antihypertensive drugs. In lieu of biochemical or pharmacogenomic parameters, self-defined African ancestry seems the best available predictor of individual responses to antihypertensive drugs. PMID:23721258

  15. Cumulative dietary exposure to a selected group of pesticides of the triazole group in different European countries according to the EFSA guidance on probabilistic modelling.

    Science.gov (United States)

    Boon, Polly E; van Donkersgoed, Gerda; Christodoulou, Despo; Crépet, Amélie; D'Addezio, Laura; Desvignes, Virginie; Ericsson, Bengt-Göran; Galimberti, Francesco; Ioannou-Kakouri, Eleni; Jensen, Bodil Hamborg; Rehurkova, Irena; Rety, Josselin; Ruprich, Jiri; Sand, Salomon; Stephenson, Claire; Strömberg, Anita; Turrini, Aida; van der Voet, Hilko; Ziegler, Popi; Hamey, Paul; van Klaveren, Jacob D

    2015-05-01

    The practicality was examined of performing a cumulative dietary exposure assessment according to the requirements of the EFSA guidance on probabilistic modelling. For this the acute and chronic cumulative exposure to triazole pesticides was estimated using national food consumption and monitoring data of eight European countries. Both the acute and chronic cumulative dietary exposures were calculated according to two model runs (optimistic and pessimistic) as recommended in the EFSA guidance. The exposures obtained with these model runs differed substantially for all countries, with the highest exposures obtained with the pessimistic model run. In this model run, animal commodities including cattle milk and different meat types, entered in the exposure calculations at the level of the maximum residue limit (MRL), contributed most to the exposure. We conclude that application of the optimistic model run on a routine basis for cumulative assessments is feasible. The pessimistic model run is laborious and the exposure results could be too far from reality. More experience with this approach is needed to stimulate the discussion of the feasibility of all the requirements, especially the inclusion of MRLs of animal commodities which seem to result in unrealistic conclusions regarding their contribution to the dietary exposure. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Genome-wide Ancestry and Demographic History of African-Descendant Maroon Communities from French Guiana and Suriname.

    Science.gov (United States)

    Fortes-Lima, Cesar; Gessain, Antoine; Ruiz-Linares, Andres; Bortolini, Maria-Cátira; Migot-Nabias, Florence; Bellis, Gil; Moreno-Mayar, J Víctor; Restrepo, Berta Nelly; Rojas, Winston; Avendaño-Tamayo, Efren; Bedoya, Gabriel; Orlando, Ludovic; Salas, Antonio; Helgason, Agnar; Gilbert, M Thomas P; Sikora, Martin; Schroeder, Hannes; Dugoujon, Jean-Michel

    2017-11-02

    The transatlantic slave trade was the largest forced migration in world history. However, the origins of the enslaved Africans and their admixture dynamics remain unclear. To investigate the demographic history of African-descendant Marron populations, we generated genome-wide data (4.3 million markers) from 107 individuals from three African-descendant populations in South America, as well as 124 individuals from six west African populations. Throughout the Americas, thousands of enslaved Africans managed to escape captivity and establish lasting communities, such as the Noir Marron. We find that this population has the highest proportion of African ancestry (∼98%) of any African-descendant population analyzed to date, presumably because of centuries of genetic isolation. By contrast, African-descendant populations in Brazil and Colombia harbor substantially more European and Native American ancestry as a result of their complex admixture histories. Using ancestry tract-length analysis, we detect different dates for the European admixture events in the African-Colombian (1749 CE; confidence interval [CI]: 1737-1764) and African-Brazilian (1796 CE; CI: 1789-1804) populations in our dataset, consistent with the historically attested earlier influx of Africans into Colombia. Furthermore, we find evidence for sex-specific admixture patterns, resulting from predominantly European paternal gene flow. Finally, we detect strong genetic links between the African-descendant populations and specific source populations in Africa on the basis of haplotype sharing patterns. Although the Noir Marron and African-Colombians show stronger affinities with African populations from the Bight of Benin and the Gold Coast, the African-Brazilian population from Rio de Janeiro has greater genetic affinity with Bantu-speaking populations from the Bight of Biafra and west central Africa. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  17. Comparative assessment of study groups of elderly female computer users from four European countries: questionnaires used in the NEW study

    DEFF Research Database (Denmark)

    Sandsjö, L; Larsman, P; Vollenbroek-Hutten, M M R

    2006-01-01

    There is a lack of consistent and comprehensive questionnaire forms for the studies of factors associated with work-related musculoskeletal disorders at the European level. One of the results of the EU-funded project, neuromuscular assessment in the elderly worker (NEW), is a set of questionnaires...... for the screening of musculoskeletal status and the studies of factors that are believed to affect musculoskeletal health. The questionnaires have been used among elderly women (45+) in different occupations and organisations in Denmark, The Netherlands, Sweden and Switzerland. The aim of this short communication...... is to present the questionnaires used in the NEW study and to evaluate the appropriateness of pooling data gathered in each participating country into a common database. It is concluded that although differences exist among the study samples, these are not of such a magnitude or pattern that data from the four...

  18. Genome-Wide Association Analysis Reveals Genetic Heterogeneity of Sjögren's Syndrome According to Ancestry.

    Science.gov (United States)

    Taylor, Kimberly E; Wong, Quenna; Levine, David M; McHugh, Caitlin; Laurie, Cathy; Doheny, Kimberly; Lam, Mi Y; Baer, Alan N; Challacombe, Stephen; Lanfranchi, Hector; Schiødt, Morten; Srinivasan, M; Umehara, Hisanori; Vivino, Frederick B; Zhao, Yan; Shiboski, Stephen C; Daniels, Troy E; Greenspan, John S; Shiboski, Caroline H; Criswell, Lindsey A

    2017-06-01

    The Sjögren's International Collaborative Clinical Alliance (SICCA) is an international data registry and biorepository derived from a multisite observational study of participants in whom genotyping was performed on the Omni2.5M platform and who had undergone deep phenotyping using common protocol-directed methods. The aim of this study was to examine the genetic etiology of Sjögren's syndrome (SS) across ancestry and disease subsets. We performed genome-wide association study analyses using SICCA subjects and external controls obtained from dbGaP data sets, one using all participants (1,405 cases, 1,622 SICCA controls, and 3,125 external controls), one using European participants (585, 966, and 580, respectively), and one using Asian participants (460, 224, and 901, respectively) with ancestry adjustments via principal components analyses. We also investigated whether subphenotype distributions differ by ethnicity, and whether this contributes to the heterogeneity of genetic associations. We observed significant associations in established regions of the major histocompatibility complex (MHC), IRF5, and STAT4 (P = 3 × 10-42 , P = 3 × 10-14 , and P = 9 × 10-10 , respectively), and several novel suggestive regions (those with 2 or more associations at P heterogeneity especially in the MHC; representative single-nucleotide polymorphisms from established and suggestive regions had highly significant differences in the allele frequencies in the study populations. We showed that SSA/SSB autoantibody production and the labial salivary gland focus score criteria were associated with the first worldwide principal component, indicative of higher non-European ancestry (P = 4 × 10-15 and P = 4 × 10-5 , respectively), but that subphenotype differences did not explain most of the ancestry differences in genetic associations. Genetic associations with SS differ markedly according to ancestry; however, this is not explained by differences in

  19. Evaluation of the Precision ID Ancestry Panel for crime case work

    DEFF Research Database (Denmark)

    Pereira, Vania; Mogensen, Helle S; Børsting, Claus

    2017-01-01

    ancestry informative SNPs. The performance of the assay and the accompanying software solution for ancestry inference was assessed by typing 142 Danes and 98 Somalis. Locus balance, heterozygote balance, and noise levels were calculated and future analysis criteria for crime case work were estimated...... should be excluded from the analyses. The different statistical methods for reporting ancestry in forensic genetic case work are discussed....

  20. EURObservational Research Programme: a worldwide registry on peripartum cardiomyopathy (PPCM) in conjunction with the Heart Failure Association of the European Society of Cardiology Working Group on PPCM.

    Science.gov (United States)

    Sliwa, Karen; Hilfiker-Kleiner, Denise; Mebazaa, Alexandre; Petrie, Mark C; Maggioni, Aldo P; Regitz-Zagrosek, Vera; Schaufelberger, Maria; Tavazzi, Luigi; van Veldhuisen, Dirk J; Roos-Hesslink, Jolien W; Shah, Ajay J; Seferovic, Petar M; Elkayam, Uri; van Spaendonck-Zwarts, Karin; Bachelier-Walenta, Katrin; Mouquet, Frederic; Kraigher-Krainer, Elisabeth; Hall, Roger; Ponikowski, Piotr; McMurray, John J V; Pieske, Burkert

    2014-05-01

    The EURObservational Research Programme is a rolling programme of cardiovascular registries and surveys of the European Society of Cardiology (ESC). These registries will provide information on the nature of cardiovascular disease and its management. This manuscript provides an update on new literature on peripartum cardiomyopathy (PPCM), published since the 2010 Position Statement from the Heart Failure Association of the European Society of Cardiology Working Group on PPCM, and describes a new registry on this under-recognized condition. Peripartum cardiomyopathy is an idiopathic cardiomyopathy presenting with heart failure secondary to left ventricular systolic dysfunction towards the end of the pregnancy, or in the months following delivery, where no other cause for heart failure is found. The PPCM Registry aims to describe disease presentation, comorbidities, diagnostic and therapeutic management of patients with PPCM, as well as information on their offspring. Centres not only from ESC and ESC-affiliated countries, but from around the world, are encouraged to participate. A prospective registry on patients presenting with PPCM. At the time of writing, approximately 100 patients have been enrolled from 20 countries. All data entry is online via secure passwords and is supported by well-trained information technology personnel. The EURObservational Research Programme will allow a comparison of women from around the world, from different ethnic backgrounds, presenting with PPCM and will report on their 6 month and 12 month outcomes. The study aims to include 1000 patients and follow them for 1 year. New centres volunteering to participate in the study will be welcomed. © 2014 The Authors. European Journal of Heart Failure © 2014 European Society of Cardiology.