WorldWideScience

Sample records for symptom-reflux association analysis

  1. Effect of proton-pump inhibitor treatment on symptoms and quality of life in GERD patients depends on the symptom-reflux association

    NARCIS (Netherlands)

    Aanen, Marissa C.; Weusten, Bas L. A. M.; Numans, Mattijs E.; de Wit, Niek J.; Samsom, Melvin; Smout, Andre J. P. M.

    2008-01-01

    Backgound: Gastroesophageal reflux disease patients demonstrate various pathophysiologic backgrounds. Therefore, a heterogeneous response to proton-pump inhibitor (PPI) treatment can be expected. We investigated the effect of short-term PPI treatment on symptoms and quality of life (QOL) in primary

  2. How reflux causes symptoms: reflux perception in gastroesophageal reflux disease.

    Science.gov (United States)

    Weijenborg, Pim W; Bredenoord, Albert J

    2013-06-01

    In gastroesophageal reflux disease (GERD) symptoms arise due to reflux of gastric content into the oesophagus. However, the relation between magnitude and onset of reflux and symptom generation in GERD patients is far from simple; gastroesophageal reflux occurs several times a day in everyone and the majority of reflux episodes remains asymptomatic. This review aims to address the question how reflux causes symptoms, focussing on factors leading to enhanced reflux perception. We will highlight esophageal sensitivity variance between subtypes of GERD, which is influenced by peripheral sensitization of primary afferents, central sensitization of spinal dorsal horn neurons, impaired mucosal barrier function and genetic factors. We will also discuss the contribution of specific refluxate characteristics to reflux perception, including acidity, and the role of bile, pepsin and gas and proximal extent. Further understanding of reflux perception might improve GERD treatment, especially in current partial responders to therapy. Copyright © 2013 Elsevier Ltd. All rights reserved.

  3. Hierarchical Parallelization of Gene Differential Association Analysis

    Directory of Open Access Journals (Sweden)

    Dwarkadas Sandhya

    2011-09-01

    Full Text Available Abstract Background Microarray gene differential expression analysis is a widely used technique that deals with high dimensional data and is computationally intensive for permutation-based procedures. Microarray gene differential association analysis is even more computationally demanding and must take advantage of multicore computing technology, which is the driving force behind increasing compute power in recent years. In this paper, we present a two-layer hierarchical parallel implementation of gene differential association analysis. It takes advantage of both fine- and coarse-grain (with granularity defined by the frequency of communication parallelism in order to effectively leverage the non-uniform nature of parallel processing available in the cutting-edge systems of today. Results Our results show that this hierarchical strategy matches data sharing behavior to the properties of the underlying hardware, thereby reducing the memory and bandwidth needs of the application. The resulting improved efficiency reduces computation time and allows the gene differential association analysis code to scale its execution with the number of processors. The code and biological data used in this study are downloadable from http://www.urmc.rochester.edu/biostat/people/faculty/hu.cfm. Conclusions The performance sweet spot occurs when using a number of threads per MPI process that allows the working sets of the corresponding MPI processes running on the multicore to fit within the machine cache. Hence, we suggest that practitioners follow this principle in selecting the appropriate number of MPI processes and threads within each MPI process for their cluster configurations. We believe that the principles of this hierarchical approach to parallelization can be utilized in the parallelization of other computationally demanding kernels.

  4. Longitudinal Association Analysis of Quantitative Traits

    Science.gov (United States)

    Fan, Ruzong; Zhang, Yiwei; Albert, Paul S.; Liu, Aiyi; Wang, Yuanjia; Xiong, Momiao

    2015-01-01

    Longitudinal genetic studies provide a valuable resource for exploring key genetic and environmental factors that affect complex traits over time. Genetic analysis of longitudinal data that incorporate temporal variations is important for understanding genetic architecture and biological variations of common complex diseases. Although they are important, there is a paucity of statistical methods to analyze longitudinal human genetic data. In this article, longitudinal methods are developed for temporal association mapping to analyze population longitudinal data. Both parametric and nonparametric models are proposed. The models can be applied to multiple diallelic genetic markers such as single-nucleotide polymorphisms and multiallelic markers such as microsatellites. By analytical formulae, we show that the models take both the linkage disequilibrium and temporal trends into account simultaneously. Variance-covariance structure is constructed to model the single measurement variation and multiple measurement correlations of an individual based on the theory of stochastic processes. Novel penalized spline models are used to estimate the time-dependent mean functions and regression coefficients. The methods were applied to analyze Framingham Heart Study data of Genetic Analysis Workshop (GAW) 13 and GAW 16. The temporal trends and genetic effects of the systolic blood pressure are successfully detected by the proposed approaches. Simulation studies were performed to find out that the nonparametric penalized linear model is the best choice in fitting real data. The research sheds light on the important area of longitudinal genetic analysis, and it provides a basis for future methodological investigations and practical applications. PMID:22965819

  5. Analysis of renal anomalies in VACTERL association.

    Science.gov (United States)

    Cunningham, Bridget K; Khromykh, Alina; Martinez, Ariel F; Carney, Tyler; Hadley, Donald W; Solomon, Benjamin D

    2014-10-01

    VACTERL association refers to a combination of congenital anomalies that can include: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula with esophageal atresia, renal anomalies (typically structural renal anomalies), and limb anomalies. We conducted a description of a case series to characterize renal findings in a cohort of patients with VACTERL association. Out of the overall cohort, 48 patients (with at least three component features of VACTERL and who had abdominal ultrasound performed) met criteria for analysis. Four other patients were additionally analyzed separately, with the hypothesis that subtle renal system anomalies may occur in patients who would not otherwise meet criteria for VACTERL association. Thirty-three (69%) of the 48 patients had a clinical manifestation affecting the renal system. The most common renal manifestation (RM) was vesicoureteral reflux (VUR) in addition to a structural defect (present in 27%), followed by unilateral renal agenesis (24%), and then dysplastic/multicystic kidneys or duplicated collected system (18% for each). Twenty-two (88%) of the 25 patients with a structural RM had an associated anorectal malformation. Individuals with either isolated lower anatomic anomalies, or both upper and lower anatomic anomalies were not statistically more likely to have a structural renal defect than those with isolated upper anatomic anomalies (p = 0.22, p = 0.284, respectively). Given the high prevalence of isolated VUR in our cohort, we recommend a screening VCUG or other imaging modality be obtained to evaluate for VUR if initial renal ultrasound shows evidence of obstruction or renal scarring, as well as ongoing evaluation of renal health. © 2014 Wiley Periodicals, Inc.

  6. Risk Characterization uncertainties associated description, sensitivity analysis

    International Nuclear Information System (INIS)

    Carrillo, M.; Tovar, M.; Alvarez, J.; Arraez, M.; Hordziejewicz, I.; Loreto, I.

    2013-01-01

    The power point presentation is about risks to the estimated levels of exposure, uncertainty and variability in the analysis, sensitivity analysis, risks from exposure to multiple substances, formulation of guidelines for carcinogenic and genotoxic compounds and risk subpopulations

  7. Analysis of factors associated with cracked teeth.

    Science.gov (United States)

    Seo, Deog-Gyu; Yi, Young-Ah; Shin, Su-Jung; Park, Jeong-Won

    2012-03-01

    The purpose of this study was to analyze the characteristics, distribution, and associated factors of longitudinal fractured teeth according to the well-defined criteria of the American Association of Endodontists (AAE). One hundred seven teeth with longitudinal fracture from 103 patients were diagnosed and analyzed. The patients' signs, symptoms, age, and sex were noted as well as the tooth number, dental arch, filling materials, size/classification of restoration, crack direction, pulp vitality, whether the patient had undergone endodontic treatment, bite test results, percussion test results, wear facet, and periodontal pocket depth. Eighty-seven teeth were diagnosed with a cracked tooth (81.3%), 14 were diagnosed with vertical root fracture (VRF, 13.1%), 4 had a split tooth (3.7%), and 2 had a fractured cusp (1.9%); 82.2% showed a sensitive reaction on the bite test. Longitudinal tooth fractures were observed most frequently in patient in their 40s. The upper first molar (28.0%) was most frequently cracked, followed by the lower first molar (25.2%), the lower second molar (20.6%), and the upper second molar (16.8%). Most longitudinal tooth fractures (72.0%) occurred mainly in restored teeth, whereas only 28.0% were found in intact teeth. Compared with resin (4.7%) or porcelain (0.9%), the use of nonbonded inlay restoration materials such as gold (20.5%) or amalgam (18.7%) increased the occurrence of longitudinal tooth fractures. Out of 107 of longitudinal fractured teeth, 33 (30.8%) were treated endodontically and 74 (69.2%) were not. VRF was associated with endodontic treatment. The bite test is most reliable for reproducing symptoms. The combined use of various examination methods is recommended for detecting cracks and minutely inspecting all directions of a tooth. Copyright © 2012 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

  8. Using survival analysis to determine association between maternal ...

    African Journals Online (AJOL)

    Using survival analysis to determine association between maternal pelvis height and antenatal fetal head descent in Ugandan mothers. Ian Guyton Munabi, 1,&, Samuel Abilemech Luboga, Florence Mirembe ...

  9. Association analysis of multiple traits by an approach of combining ...

    Indian Academy of Sciences (India)

    Lili Chen

    However, because of low minor allele frequency of rare variant, these methods are not optimal for rare variant association analysis. In this paper, we extend an adaptive combination of P values method. (termed ADA) for single trait to test association between multiple traits and rare variants in the given region. For a given ...

  10. Association analysis of PRKAG3 gene variants with carcass and ...

    African Journals Online (AJOL)

    In this study, we detected four single nucleotide polymorphisms (SNPs) at the PRKAG3 gene (DQ082736) in 267 beef cattle. The SNP marker association analysis indicated that the SNP markers T2885C was significantly associated with tenderness trait. Animals with the TT genotype had lower Warner-Bratzler shear force ...

  11. Association between varicocele grade and semen analysis parameter

    Directory of Open Access Journals (Sweden)

    Ira Ariyati

    2018-02-01

    Full Text Available Background: Varicocele is a condition characterized by elongation, dilatation and tortuousity of spermatic vein in pampiniform plexus. Approximately 50% of infertility cases among men are caused by varicocele. The varicocele may affect the components of sperm. This study aimed to determine the association between varicocele grade based on ultrasound Doppler examination and sperm concentration, sperm motility, and sperm morphology based on semen analysis examination.Methods: This was a descriptive, cross-sectional study which used secondary data from 85 patients that visited Department of Urology, Cipto Mangunkusumo Hospital, then underwent ultrasonography examination at Department of Radiology, Cipto Mangunkusumo Hospital and semen analysis examination at Department of Obstetrics and Gynecology, Cipto Mangunkusumo General Hospital.Results: Varicocele grade was significantly associated with sperm morphology, concentration and motility (all p<0.05. Significant association was found between maximum condition and semen analysis component.Conclusion: Varicocele grade may affect semen analysis component.

  12. Genome-wide association analysis identifies six new loci associated with forced vital capacity

    NARCIS (Netherlands)

    D.W. Loth (Daan); M.S. Artigas; S.A. Gharib (Sina); L.V. Wain (Louise); N. Franceschini (Nora); B. Koch (Beate); T.D. Pottinger (Tess); G.D. Smith; Q. Duan (Qing); C. Oldmeadow (Christopher); M.K. Lee (Mi Kyeong); D.P. Strachan (David); A.L. James (Alan); J.E. Huffman (Jennifer); V. Vitart (Veronique); A. Ramasamy (Adaikalavan); N.J. Wareham (Nick); J. Kaprio (Jaakko); X.-Q. Wang (Xin-Qun); H. Trochet (Holly); M. Kähönen (Mika); C. Flexeder (Claudia); E. Albrecht (Eva); L.M. Lopez (Lorna); B. Thyagarajan (Bharat); A.C. Alves (Alexessander Couto); S. Enroth (Stefan); E. Omenaas (Ernst); P.K. Joshi (Peter); M. Fall (Magnus); A. Viñuela (Ana); L.J. Launer (Lenore); L.R. Loehr (Laura); M. Fornage (Myriam); G. Li (Guo); J.B. Wilk (Jemma); W. Tang (Wenbo); A. Manichaikul (Ani); L. Lahousse (Lies); T.B. Harris (Tamara); K.E. North (Kari); A.R. Rudnicka (Alicja); J. Hui (Jennie); X. Gu (Xiangjun); T. Lumley (Thomas); A.F. Wright (Alan); N. Hastie (Nick); S. Campbell (Susan); R. Kumar (Rajesh); I. Pin (Isabelle); R.A. Scott (Robert); K.H. Pietilainen (Kirsi Hannele); I. Surakka (Ida); Y. Liu (YongMei); E.G. Holliday (Elizabeth); H. Schulz (Holger); J. Heinrich (Joachim); G. Davies (Gail); J.M. Vonk (Judith); M.K. Wojczynski (Mary ); A. Pouta (Anneli); A. Johansson (Åsa); S.H. Wild (Sarah); E. Ingelsson (Erik); F. Rivadeneira Ramirez (Fernando); H. Völzke (Henry); P.G. Hysi (Pirro); G. Eiriksdottir (Gudny); A.C. Morrison (Alanna); J.I. Rotter (Jerome); W. Gao (Wei); D.S. Postma (Dirkje); W.B. White (Wendy); S.S. Rich (Stephen); A. Hofman (Albert); T. Aspelund (Thor); D. Couper (David); L.J. Smith (Lewis); B.M. Psaty (Bruce); K. Lohman (Kurt); E.G. Burchard (Esteban); A.G. Uitterlinden (André); M. Garcia (Melissa); B.R. Joubert (Bonnie); W.L. McArdle (Wendy); A.W. Musk (Arthur); C.R.W. Hansel (Christian); S.R. Heckbert (Susan); L. Zgaga (Lina); J.B.J. van Meurs (Joyce); P. Navarro (Pau); I. Rudan (Igor); Y.-M. Oh (Yeon-Mok); S. Redline (Susan); D.L. Jarvis (Deborah); J.H. Zhao (Jing Hua); T. Rantanen (Taina); G.T. O'Connor (George); S. Ripatti (Samuli); R.J. Scott (Rodney); S. Karrasch (Stefan); H. Grallert (Harald); N.C. Gaddis (Nathan); J.M. Starr (John); C. Wijmenga (Cisca); R.L. Minster (Ryan); C.W. Lederer (Carsten); J. Pekkanen (Juha); U. Gyllensten (Ulf); H. Campbell (Harry); A.P. Morris (Andrew); S. Gläser (Sven); C.J. Hammond (Christopher); K.M. Burkart (Kristin); J.P. Beilby (John); S.B. Kritchevsky (Stephen); V. Gudnason (Vilmundur); D.B. Hancock (Dana); O.D. Williams (Dale); O. Polasek (Ozren); T. Zemunik (Tatijana); I. Kolcic (Ivana); M.F. Petrini (Marcy); K.T. de Jong (Kim); M. Wjst (Matthias); W.H. Kim (Woo); D.J. Porteous (David J.); G. Scotland (Generation); B.H. Smith (Blair); A. Viljanen (Anne); M. Heliovaara (Markku); J. Attia (John); I. Sayers (Ian); R. Hampel (Regina); C. Gieger (Christian); I.J. Deary (Ian); H.M. Boezen (Marike); A.B. Newman (Anne); M.-R. Jarvelin (Marjo-Riitta); J.F. Wilson (James); L. Lind (Lars); B.H.Ch. Stricker (Bruno); A. Teumer (Alexander); T.D. Spector (Timothy); E. Melén (Erik); M.J. Peters (Marjolein); L.A. Lange (Leslie); R.G. Barr (Graham); K.R. Bracke (Ken); F.M. Verhamme (Fien); J. Sung (Joohon); P.S. Hiemstra (Pieter); P.A. Cassano (Patricia); A. Sood (Akshay); C. Hayward (Caroline); J. Dupuis (Josée); I.P. Hall (Ian); G.G. Brusselle (Guy); M.D. Tobin (Martin); S.J. London (Stephanie)

    2014-01-01

    textabstractForced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in

  13. Genome-wide association analysis identifies six new loci associated with forced vital capacity

    NARCIS (Netherlands)

    Loth, Daan W.; Artigas, Maria Soler; Gharib, Sina A.; Wain, Louise V.; Franceschini, Nora; Koch, Beate; Pottinger, Tess D.; Smith, Albert Vernon; Duan, Qing; Oldmeadow, Chris; Lee, Mi Kyeong; Strachan, David P.; James, Alan L.; Huffman, Jennifer E.; Vitart, Veronique; Ramasamy, Adaikalavan; Wareham, Nicholas J.; Kaprio, Jaakko; Wang, Xin-Qun; Trochet, Holly; Kaonen, Mika; Flexeder, Claudia; Albrecht, Eva; Lopez, Lorna M.; de Jong, Kim; Thyagarajan, Bharat; Alves, Alexessander Couto; Enroth, Stefan; Omenaas, Ernst; Joshi, Peter K.; Fall, Tove; Vinuela, Ana; Launer, Lenore J.; Loehr, Laura R.; Fornage, Myriam; Li, Guo; Wik, Jemma B.; Tang, Wenbo; Manichaikul, Ani; Lahousse, Lies; Harris, Tamara B.; North, Kari E.; Rudnicka, Alicja R.; Hui, Jennie; Gu, Xiangjun; Lumley, Thomas; Wright, Alan F.; Hastie, Nicholas D.; Campbell, Susan; Kumar, Rajesh; Pin, Isabelle; Scott, Robert A.; Pietilainen, Kirsi H.; Surakka, Ida; Liu, Yongmei; Holliday, Elizabeth G.; Schulz, Holger; Heinrich, Joachim; Davies, Gail; Vonk, Judith M.; Wojczynski, Mary; Pouta, Anneli; Johansson, Asa; Wild, Sarah H.; Ingelsson, Erik; Rivadeneira, Fernando; Voezke, Henry; Hysi, Pirro G.; Eiriksdottir, Gudny; Morrison, Alanna C.; Rotter, Jerome I.; Gao, Wei; Postma, Dirkje S.; White, Wendy B.; Rich, Stephen S.; Hofman, Albert; Aspelund, Thor; Couper, David; Smith, Lewis J.; Psaty, Bruce M.; Lohman, Kurt; Burchard, Esteban G.; Uitterlinden, Andre G.; Garcia, Melissa; Joubert, Bonnie R.; McArdle, Wendy L.; Musk, A. Bill; Hansel, Nadia; Heckbert, Susan R.; Zgaga, Lina; van Meurs, Joyce B. J.; Navarro, Pau; Rudan, Igor; Oh, Yeon-Mok; Redline, Susan; Jarvis, Deborah L.; Rantanen, Taina; O'Connor, George T.; Ripatti, Samuli; Scott, Rodney J.; Karrasch, Stefan; Grallert, Harald; Gaddis, Nathan C.; Starr, John M.; Wijmenga, Cisca; Minster, Ryan L.; Lederer, David J.; Pekkanen, Juha; Gyllensten, Ulf; Campbe, Harry; Morris, Andrew P.; Glaeser, Sven; Hammond, Christopher J.; Burkart, Kristin M.; Beilby, John; Kritchevsky, Stephen B.; Gucinason, Vilrnundur; Hancock, Dana B.; Williams, Dale; Polasek, Ozren; Zemunik, Tatijana; Kolcic, Ivana; Petrini, Marcy F.; Wjst, Matthias; Kim, Woo Jin; Porteous, David J.; Scotland, Generation; Smith, Blair H.; Villanen, Anne; Heliovaara, Markku; Attia, John R.; Sayers, Ian; Hampel, Regina; Gieger, Christian; Deary, Ian J.; Boezen, Hendrika; Newman, Anne; Jarvelin, Marjo-Riitta; Wilson, James F.; Lind, Lars; Stricker, Bruno H.; Teumer, Alexander; Spector, Timothy D.; Melen, Erik; Peters, Marjolein J.; Lange, Leslie A.; Barr, R. Graham; Bracke, Ken R.; Verhamme, Fien M.; Sung, Joohon; Hiemstra, Pieter S.; Cassano, Patricia A.; Sood, Akshay; Hayward, Caroline; Dupuis, Josee; Hall, Ian P.; Brusselle, Guy G.; Tobin, Martin D.; London, Stephanie J.

    Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917

  14. GWATCH: a web platform for automated gene association discovery analysis

    Science.gov (United States)

    2014-01-01

    Background As genome-wide sequence analyses for complex human disease determinants are expanding, it is increasingly necessary to develop strategies to promote discovery and validation of potential disease-gene associations. Findings Here we present a dynamic web-based platform – GWATCH – that automates and facilitates four steps in genetic epidemiological discovery: 1) Rapid gene association search and discovery analysis of large genome-wide datasets; 2) Expanded visual display of gene associations for genome-wide variants (SNPs, indels, CNVs), including Manhattan plots, 2D and 3D snapshots of any gene region, and a dynamic genome browser illustrating gene association chromosomal regions; 3) Real-time validation/replication of candidate or putative genes suggested from other sources, limiting Bonferroni genome-wide association study (GWAS) penalties; 4) Open data release and sharing by eliminating privacy constraints (The National Human Genome Research Institute (NHGRI) Institutional Review Board (IRB), informed consent, The Health Insurance Portability and Accountability Act (HIPAA) of 1996 etc.) on unabridged results, which allows for open access comparative and meta-analysis. Conclusions GWATCH is suitable for both GWAS and whole genome sequence association datasets. We illustrate the utility of GWATCH with three large genome-wide association studies for HIV-AIDS resistance genes screened in large multicenter cohorts; however, association datasets from any study can be uploaded and analyzed by GWATCH. PMID:25374661

  15. Associated anomalies in cleft lip and palate: analysis of 811 ...

    African Journals Online (AJOL)

    2017-08-03

    Aug 3, 2017 ... Associated anomalies in cleft lip and palate: analysis of 811 consecutive patients. Adesina O Aa, Efunkoya A Ab, Olaitan Ac, Adesina O Od a Department of Oral & Maxillofacial Unit, University of Maiduguri Teaching Hospital, Maiduguri, Borno State, Nigeria. b Department of Oral & Maxillofacial Unit, Aminu ...

  16. Character association and path analysis in grain sorghum | Ezeaku ...

    African Journals Online (AJOL)

    Association and path analysis between hill count, bloom, plant height, panicle length, panicle count, 1000 seed mass, head weight and grain yield of thirty sorghum varieties were studied over two locations and years. There is significant high positive correlation between grain yield and head weight (r=0.976), grain yield and ...

  17. Linear and nonlinear stability analysis, associated to experimental fast reactors

    International Nuclear Information System (INIS)

    Amorim, E.S. do; Moura Neto, C. de; Rosa, M.A.P.

    1980-07-01

    Phenomena associated to the physics of fast neutrons were analysed by linear and nonlinear Kinetics with arbitrary feedback. The theoretical foundations of linear kinetics and transfer functions aiming at the analysis of fast reactors stability, are established. These stability conditions were analitically proposed and investigated by digital and analogic programs. (E.G.) [pt

  18. Dynamic association rules for gene expression data analysis.

    Science.gov (United States)

    Chen, Shu-Chuan; Tsai, Tsung-Hsien; Chung, Cheng-Han; Li, Wen-Hsiung

    2015-10-14

    The purpose of gene expression analysis is to look for the association between regulation of gene expression levels and phenotypic variations. This association based on gene expression profile has been used to determine whether the induction/repression of genes correspond to phenotypic variations including cell regulations, clinical diagnoses and drug development. Statistical analyses on microarray data have been developed to resolve gene selection issue. However, these methods do not inform us of causality between genes and phenotypes. In this paper, we propose the dynamic association rule algorithm (DAR algorithm) which helps ones to efficiently select a subset of significant genes for subsequent analysis. The DAR algorithm is based on association rules from market basket analysis in marketing. We first propose a statistical way, based on constructing a one-sided confidence interval and hypothesis testing, to determine if an association rule is meaningful. Based on the proposed statistical method, we then developed the DAR algorithm for gene expression data analysis. The method was applied to analyze four microarray datasets and one Next Generation Sequencing (NGS) dataset: the Mice Apo A1 dataset, the whole genome expression dataset of mouse embryonic stem cells, expression profiling of the bone marrow of Leukemia patients, Microarray Quality Control (MAQC) data set and the RNA-seq dataset of a mouse genomic imprinting study. A comparison of the proposed method with the t-test on the expression profiling of the bone marrow of Leukemia patients was conducted. We developed a statistical way, based on the concept of confidence interval, to determine the minimum support and minimum confidence for mining association relationships among items. With the minimum support and minimum confidence, one can find significant rules in one single step. The DAR algorithm was then developed for gene expression data analysis. Four gene expression datasets showed that the proposed

  19. Joint association analysis of bivariate quantitative and qualitative traits.

    Science.gov (United States)

    Yuan, Mengdie; Diao, Guoqing

    2011-11-29

    Univariate genome-wide association analysis of quantitative and qualitative traits has been investigated extensively in the literature. In the presence of correlated phenotypes, it is more intuitive to analyze all phenotypes simultaneously. We describe an efficient likelihood-based approach for the joint association analysis of quantitative and qualitative traits in unrelated individuals. We assume a probit model for the qualitative trait, under which an unobserved latent variable and a prespecified threshold determine the value of the qualitative trait. To jointly model the quantitative and qualitative traits, we assume that the quantitative trait and the latent variable follow a bivariate normal distribution. The latent variable is allowed to be correlated with the quantitative phenotype. Simultaneous modeling of the quantitative and qualitative traits allows us to make more precise inference on the pleiotropic genetic effects. We derive likelihood ratio tests for the testing of genetic effects. An application to the Genetic Analysis Workshop 17 data is provided. The new method yields reasonable power and meaningful results for the joint association analysis of the quantitative trait Q1 and the qualitative trait disease status at SNPs with not too small MAF.

  20. A pathway-centric approach to rare variant association analysis

    Science.gov (United States)

    Richardson, Tom G; Timpson, Nicholas J; Campbell, Colin; Gaunt, Tom R

    2017-01-01

    Current endeavours in rare variant analysis are typically underpowered when investigating association signals from individual genes. We undertook an approach to rare variant analysis which utilises biological pathway information to analyse functionally relevant genes together. Conventional filtering approaches for rare variant analysis are based on variant consequence and are therefore confined to coding regions of the genome. Therefore, we undertook a novel approach to this process by obtaining functional annotations from the Combined Annotation Dependent Depletion (CADD) tool, which allowed potentially deleterious variants from intronic regions of genes to be incorporated into analyses. This work was undertaken using whole-genome sequencing data from the UK10K project. Rare variants from the KEGG pathway for arginine and proline metabolism were collectively associated with systolic blood pressure (P=3.32x10−5) based on analyses using the optimal sequence kernel association test. Variants along this pathway also showed evidence of replication using imputed data from the Avon Longitudinal Study of Parents and Children cohort (P=0.02). Subsequent analyses found that the strength of evidence diminished when analysing genes in this pathway individually, suggesting that they would have been overlooked in a conventional gene-based analysis. Future studies that adopt similar approaches to investigate polygenic effects should yield value in better understanding the genetic architecture of complex disease. PMID:27577545

  1. Quantitative analysis of dynamic association in live biological fluorescent samples.

    Directory of Open Access Journals (Sweden)

    Pekka Ruusuvuori

    Full Text Available Determining vesicle localization and association in live microscopy may be challenging due to non-simultaneous imaging of rapidly moving objects with two excitation channels. Besides errors due to movement of objects, imaging may also introduce shifting between the image channels, and traditional colocalization methods cannot handle such situations. Our approach to quantifying the association between tagged proteins is to use an object-based method where the exact match of object locations is not assumed. Point-pattern matching provides a measure of correspondence between two point-sets under various changes between the sets. Thus, it can be used for robust quantitative analysis of vesicle association between image channels. Results for a large set of synthetic images shows that the novel association method based on point-pattern matching demonstrates robust capability to detect association of closely located vesicles in live cell-microscopy where traditional colocalization methods fail to produce results. In addition, the method outperforms compared Iterated Closest Points registration method. Results for fixed and live experimental data shows the association method to perform comparably to traditional methods in colocalization studies for fixed cells and to perform favorably in association studies for live cells.

  2. Uncertainty analysis associated with radioactive waste disposal: a discussion paper

    International Nuclear Information System (INIS)

    Cranwell, R.M.; Helton, J.C.

    1980-01-01

    The problem of incorporating and representing uncertainty in the analysis of geologic waste disposal has been discussed. The approach has been to view uncertainty analysis in the context of the problem of how to convert from a deterministic model (i.e., a function whoe input is a sequence of real numbers) to a probabilistic model (i.e., a function whoe input is a sequence of random variables and whose output is one or more random variables). Then, uncertainty analysis becomes the study of how the properaties of the output random variable are determined by the properties of the output random variable are determined by the properties of the input random variables. In the context of this approach, various questions which relate to uncertainty analysis for geologic waste disposal have been discussed and the manner in which the problems associated with these questions are being treated in the Sandia project has been indicated

  3. Genome-wide association analysis identifies six new loci associated with forced vital capacity

    Science.gov (United States)

    Loth, Daan W.; Artigas, María Soler; Gharib, Sina A.; Wain, Louise V.; Franceschini, Nora; Koch, Beate; Pottinger, Tess; Smith, Albert Vernon; Duan, Qing; Oldmeadow, Chris; Lee, Mi Kyeong; Strachan, David P.; James, Alan L.; Huffman, Jennifer E.; Vitart, Veronique; Ramasamy, Adaikalavan; Wareham, Nicholas J.; Kaprio, Jaakko; Wang, Xin-Qun; Trochet, Holly; Kähönen, Mika; Flexeder, Claudia; Albrecht, Eva; Lopez, Lorna M.; de Jong, Kim; Thyagarajan, Bharat; Alves, Alexessander Couto; Enroth, Stefan; Omenaas, Ernst; Joshi, Peter K.; Fall, Tove; Viňuela, Ana; Launer, Lenore J.; Loehr, Laura R.; Fornage, Myriam; Li, Guo; Wilk, Jemma B.; Tang, Wenbo; Manichaikul, Ani; Lahousse, Lies; Harris, Tamara B.; North, Kari E.; Rudnicka, Alicja R.; Hui, Jennie; Gu, Xiangjun; Lumley, Thomas; Wright, Alan F.; Hastie, Nicholas D.; Campbell, Susan; Kumar, Rajesh; Pin, Isabelle; Scott, Robert A.; Pietiläinen, Kirsi H.; Surakka, Ida; Liu, Yongmei; Holliday, Elizabeth G.; Schulz, Holger; Heinrich, Joachim; Davies, Gail; Vonk, Judith M.; Wojczynski, Mary; Pouta, Anneli; Johansson, Åsa; Wild, Sarah H.; Ingelsson, Erik; Rivadeneira, Fernando; Völzke, Henry; Hysi, Pirro G.; Eiriksdottir, Gudny; Morrison, Alanna C.; Rotter, Jerome I.; Gao, Wei; Postma, Dirkje S.; White, Wendy B.; Rich, Stephen S.; Hofman, Albert; Aspelund, Thor; Couper, David; Smith, Lewis J.; Psaty, Bruce M.; Lohman, Kurt; Burchard, Esteban G.; Uitterlinden, André G.; Garcia, Melissa; Joubert, Bonnie R.; McArdle, Wendy L.; Musk, A. Bill; Hansel, Nadia; Heckbert, Susan R.; Zgaga, Lina; van Meurs, Joyce B.J.; Navarro, Pau; Rudan, Igor; Oh, Yeon-Mok; Redline, Susan; Jarvis, Deborah; Zhao, Jing Hua; Rantanen, Taina; O’Connor, George T.; Ripatti, Samuli; Scott, Rodney J.; Karrasch, Stefan; Grallert, Harald; Gaddis, Nathan C.; Starr, John M.; Wijmenga, Cisca; Minster, Ryan L.; Lederer, David J.; Pekkanen, Juha; Gyllensten, Ulf; Campbell, Harry; Morris, Andrew P.; Gläser, Sven; Hammond, Christopher J.; Burkart, Kristin M.; Beilby, John; Kritchevsky, Stephen B.; Gudnason, Vilmundur; Hancock, Dana B.; Williams, O. Dale; Polasek, Ozren; Zemunik, Tatijana; Kolcic, Ivana; Petrini, Marcy F.; Wjst, Matthias; Kim, Woo Jin; Porteous, David J.; Scotland, Generation; Smith, Blair H.; Viljanen, Anne; Heliövaara, Markku; Attia, John R.; Sayers, Ian; Hampel, Regina; Gieger, Christian; Deary, Ian J.; Boezen, H. Marike; Newman, Anne; Jarvelin, Marjo-Riitta; Wilson, James F.; Lind, Lars; Stricker, Bruno H.; Teumer, Alexander; Spector, Timothy D.; Melén, Erik; Peters, Marjolein J.; Lange, Leslie A.; Barr, R. Graham; Bracke, Ken R.; Verhamme, Fien M.; Sung, Joohon; Hiemstra, Pieter S.; Cassano, Patricia A.; Sood, Akshay; Hayward, Caroline; Dupuis, Josée; Hall, Ian P.; Brusselle, Guy G.; Tobin, Martin D.; London, Stephanie J.

    2014-01-01

    Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P < 5 × 10−8) with FVC in or near EFEMP1, BMP6, MIR-129-2/HSD17B12, PRDM11, WWOX, and KCNJ2. Two (GSTCD and PTCH1) loci previously associated with spirometric measures were related to FVC. Newly implicated regions were followed-up in samples of African American, Korean, Chinese, and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and pathogenesis of restrictive lung disease. PMID:24929828

  4. Data-flow Analysis of Programs with Associative Arrays

    Directory of Open Access Journals (Sweden)

    David Hauzar

    2014-05-01

    Full Text Available Dynamic programming languages, such as PHP, JavaScript, and Python, provide built-in data structures including associative arrays and objects with similar semantics—object properties can be created at run-time and accessed via arbitrary expressions. While a high level of security and safety of applications written in these languages can be of a particular importance (consider a web application storing sensitive data and providing its functionality worldwide, dynamic data structures pose significant challenges for data-flow analysis making traditional static verification methods both unsound and imprecise. In this paper, we propose a sound and precise approach for value and points-to analysis of programs with associative arrays-like data structures, upon which data-flow analyses can be built. We implemented our approach in a web-application domain—in an analyzer of PHP code.

  5. Association between tea consumption and osteoporosis: A meta-analysis.

    Science.gov (United States)

    Sun, Kang; Wang, Le; Ma, Qingping; Cui, Qiaoyun; Lv, Qianru; Zhang, Wenzheng; Li, Xinghui

    2017-12-01

    Previous reports have suggested a potential association of tea consumption with the risk of osteoporosis. As such association is controversial, we conducted a meta-analysis to assess the relationship between tea consumption and osteoporosis. We systematically searched PubMed, EMBASE and WanFang databases until March 30, 2016, using the keywords "tea and osteoporosis," without limits of language. Odds ratios (ORs) with 95% confidence intervals (95% CIs) were derived by using random-effects models throughout the analyses. We conducted the analysis of the statistical heterogeneity using Cochrane I. The funnel plot was used to speculate the publication bias, while the subgroup analysis and multiround elimination method were employed. Our study was based on 17 journal articles, including 2 prospective cohort studies, 4 case-control studies, and 11 cross-sectional studies. In the present study, the total OR of osteoporosis for the highest versus the lowest categories of tea consumption was 0.62 (95% CI, 0.46-0.83), with significant heterogeneity among studies (I = 94%, P tea consumption and osteoporosis. Subgroup analysis showed that tea consumption could reduce the risk of osteoporosis in all examined subgroups. In the present study, it can be concluded from the results that tea consumption can reduce the risk of osteoporosis.

  6. Systematic Analysis of Small RNAs Associated with Human Mitochondria by Deep Sequencing: Detailed Analysis of Mitochondrial Associated miRNA

    Science.gov (United States)

    Sripada, Lakshmi; Tomar, Dhanendra; Prajapati, Paresh; Singh, Rochika; Singh, Arun Kumar; Singh, Rajesh

    2012-01-01

    Mitochondria are one of the central regulators of many cellular processes beyond its well established role in energy metabolism. The inter-organellar crosstalk is critical for the optimal function of mitochondria. Many nuclear encoded proteins and RNA are imported to mitochondria. The translocation of small RNA (sRNA) including miRNA to mitochondria and other sub-cellular organelle is still not clear. We characterized here sRNA including miRNA associated with human mitochondria by cellular fractionation and deep sequencing approach. Mitochondria were purified from HEK293 and HeLa cells for RNA isolation. The sRNA library was generated and sequenced using Illumina system. The analysis showed the presence of unique population of sRNA associated with mitochondria including miRNA. Putative novel miRNAs were characterized from unannotated sRNA sequences. The study showed the association of 428 known, 196 putative novel miRNAs to mitochondria of HEK293 and 327 known, 13 putative novel miRNAs to mitochondria of HeLa cells. The alignment of sRNA to mitochondrial genome was also studied. The targets were analyzed using DAVID to classify them in unique networks using GO and KEGG tools. Analysis of identified targets showed that miRNA associated with mitochondria regulates critical cellular processes like RNA turnover, apoptosis, cell cycle and nucleotide metabolism. The six miRNAs (counts >1000) associated with mitochondria of both HEK293 and HeLa were validated by RT-qPCR. To our knowledge, this is the first systematic study demonstrating the associations of sRNA including miRNA with mitochondria that may regulate site-specific turnover of target mRNA important for mitochondrial related functions. PMID:22984580

  7. The Association Between Anxiety and Falls: A Meta-Analysis.

    Science.gov (United States)

    Hallford, David John; Nicholson, Geoff; Sanders, Kerrie; McCabe, Marita P

    2017-09-01

    Falls occur frequently among older adults and can lead to a range of adverse and debilitating outcomes. Although symptoms of clinical anxiety have been implicated as risk factors for falls, there is no current consensus on the empirical association between anxiety and falls. The current study aimed to address this gap in the literature by conducting a quantitative, meta-analytic review of findings from previous studies. A systematic literature search of bibliographic databases was conducted, yielding 18 studies that fit the criteria for inclusion in the meta-analysis. A random-effects model of all 18 studies showed a significant overall odds ratio of 1.53 (95% CI 1.28-1.83, p anxiety were associated with a 53% increased likelihood of falls. A high amount of variance among effect sizes was observed. Only age was identified as a moderator of this relationship in a subgroup of the samples. Clinical anxiety is associated with falls, however, further research is required to elucidate the factors that might moderate or mediate this relationship, the casual pathways through which they are related, and the associations between different types of anxiety and falls. © The Author 2016. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  8. Association and linkage analysis of aluminum tolerance genes in maize.

    Directory of Open Access Journals (Sweden)

    Allison M Krill

    Full Text Available BACKGROUND: Aluminum (Al toxicity is a major worldwide constraint to crop productivity on acidic soils. Al becomes soluble at low pH, inhibiting root growth and severely reducing yields. Maize is an important staple food and commodity crop in acidic soil regions, especially in South America and Africa where these soils are very common. Al exclusion and intracellular tolerance have been suggested as two important mechanisms for Al tolerance in maize, but little is known about the underlying genetics. METHODOLOGY: An association panel of 282 diverse maize inbred lines and three F2 linkage populations with approximately 200 individuals each were used to study genetic variation in this complex trait. Al tolerance was measured as net root growth in nutrient solution under Al stress, which exhibited a wide range of variation between lines. Comparative and physiological genomics-based approaches were used to select 21 candidate genes for evaluation by association analysis. CONCLUSIONS: Six candidate genes had significant results from association analysis, but only four were confirmed by linkage analysis as putatively contributing to Al tolerance: Zea mays AltSB like (ZmASL, Zea mays aluminum-activated malate transporter2 (ALMT2, S-adenosyl-L-homocysteinase (SAHH, and Malic Enzyme (ME. These four candidate genes are high priority subjects for follow-up biochemical and physiological studies on the mechanisms of Al tolerance in maize. Immediately, elite haplotype-specific molecular markers can be developed for these four genes and used for efficient marker-assisted selection of superior alleles in Al tolerance maize breeding programs.

  9. Analysis of characteristics associated with reinjection of icatibant

    DEFF Research Database (Denmark)

    Longhurst, Hilary J; Aberer, Werner; Bouillet, Laurence

    2015-01-01

    PURPOSE: Phase 3 icatibant trials showed that most hereditary angioedema (HAE) (C1 inhibitor deficiency) acute attacks were treated successfully with one injection of icatibant, a selective bradykinin B2 receptor antagonist. We conducted a post hoc analysis of icatibant reinjection for HAE type I...... and II attacks in a real-world setting by using data from the Icatibant Outcome Survey, an ongoing observational study that monitors the safety and effectiveness of icatibant treatment. METHODS: Descriptive retrospective analyses of icatibant reinjection were performed on Icatibant Outcome Survey data...... (February 2008 to December 2012). New attacks were defined as the onset of new symptoms after full resolution of the previous attack. Potential associations between the patient and attack characteristics and reinjection were explored by using logistic regression analysis. RESULTS: Icatibant was administered...

  10. Multi-element analysis of emeralds and associated rocks by k0 neutron activation analysis

    International Nuclear Information System (INIS)

    Acharya, R.N.; Mondal, R.K.; Burte, P.P.; Nair, A.G.C.; Reddy, N.B.Y.; Reddy, L.K.; Reddy, A.V.R.; Manohar, S.B.

    2000-01-01

    Multi-element analysis was carried out in natural emeralds, their associated rocks and one sample of beryl obtained from Rajasthan, India. The concentrations of 21 elements were assayed by Instrumental Neutron Activation Analysis using the k 0 method (k 0 INAA method) and high-resolution gamma ray spectrometry. The data reveal the segregation of some elements from associated (trapped and host) rocks to the mineral beryl forming the gemstones. A reference rock standard of the US Geological Survey (USGS BCR-1) was also analysed as a control of the method

  11. Multi-element analysis of emeralds and associated rocks by k(o) neutron activation analysis

    Science.gov (United States)

    Acharya; Mondal; Burte; Nair; Reddy; Reddy; Reddy; Manohar

    2000-12-01

    Multi-element analysis was carried out in natural emeralds, their associated rocks and one sample of beryl obtained from Rajasthan, India. The concentrations of 21 elements were assayed by Instrumental Neutron Activation Analysis using the k0 method (k0 INAA method) and high-resolution gamma ray spectrometry. The data reveal the segregation of some elements from associated (trapped and host) rocks to the mineral beryl forming the gemstones. A reference rock standard of the US Geological Survey (USGS BCR-1) was also analysed as a control of the method.

  12. Systematic Epigenomic Analysis Reveals Chromatin States Associated with Melanoma Progression.

    Science.gov (United States)

    Fiziev, Petko; Akdemir, Kadir C; Miller, John P; Keung, Emily Z; Samant, Neha S; Sharma, Sneha; Natale, Christopher A; Terranova, Christopher J; Maitituoheti, Mayinuer; Amin, Samirkumar B; Martinez-Ledesma, Emmanuel; Dhamdhere, Mayura; Axelrad, Jacob B; Shah, Amiksha; Cheng, Christine S; Mahadeshwar, Harshad; Seth, Sahil; Barton, Michelle C; Protopopov, Alexei; Tsai, Kenneth Y; Davies, Michael A; Garcia, Benjamin A; Amit, Ido; Chin, Lynda; Ernst, Jason; Rai, Kunal

    2017-04-25

    The extent and nature of epigenomic changes associated with melanoma progression is poorly understood. Through systematic epigenomic profiling of 35 epigenetic modifications and transcriptomic analysis, we define chromatin state changes associated with melanomagenesis by using a cell phenotypic model of non-tumorigenic and tumorigenic states. Computation of specific chromatin state transitions showed loss of histone acetylations and H3K4me2/3 on regulatory regions proximal to specific cancer-regulatory genes in important melanoma-driving cell signaling pathways. Importantly, such acetylation changes were also observed between benign nevi and malignant melanoma human tissues. Intriguingly, only a small fraction of chromatin state transitions correlated with expected changes in gene expression patterns. Restoration of acetylation levels on deacetylated loci by histone deacetylase (HDAC) inhibitors selectively blocked excessive proliferation in tumorigenic cells and human melanoma cells, suggesting functional roles of observed chromatin state transitions in driving hyperproliferative phenotype. Through these results, we define functionally relevant chromatin states associated with melanoma progression. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

  13. Leukoaraiosis is associated with arterial wall thickness: a quantitative analysis.

    Science.gov (United States)

    Auriel, Eitan; Csiba, Laszlo; Berenyi, Ervin; Varkonyi, Ildiko; Mehes, Gabor; Kardos, Laszlo; Karni, Arnon; Bornstein, Natan M

    2012-06-01

    Leukoaraiosis refers to an age-related, abnormal appearance of the brain white matter on neuroimaging. The association between leukoaraiosis and cerebrovascular disease suggests that ischemia may be an important contributing factor; however, the pathogenesis of the condition remains controversial. We hypothesized that physical abnormalities of blood vessels might be culpable and compared the external and internal measurements of blood vessel walls between brains that demonstrated leukoaraiosis on imaging and normal control brains. Fourteen brains of individuals who had been diagnosed as having severe leukoaraiosis and five non-leukoaraiosis control brains were studied. Arterial cross-sections were evaluated by length measurements with an image analysis device. Arterial wall thickness and the ratio of the outer and inner diameters of the vessel were measured. We measured a total of 108 vessels in the leukoaraiosis group and 95 vessels in the control group. The vessel walls of the leukoaraiosis patients were an average of 5.5 µm thicker than the walls of control vessels of the same inside diameter (P = 0.0000, 95% CI 3.01-8.08) and an average of 2.3 µm thicker than walls of control vessels of the same outside diameter (P = 0.016, 95% CI 0.48-4.17). Our data provide evidence that leukoaraiosis is associated with vessel wall thickening in an additive fashion and indicate that structural vascular abnormalities are associated with leukoaraiosis. © 2011 Japanese Society of Neuropathology.

  14. Analysis of pharmacogenomic variants associated with population differentiation.

    Science.gov (United States)

    Yeon, Bora; Ahn, Eunyong; Kim, Kyung-Im; Kim, In-Wha; Oh, Jung Mi; Park, Taesung

    2015-01-01

    In the present study, we systematically investigated population differentiation of drug-related (DR) genes in order to identify common genetic features underlying population-specific responses to drugs. To do so, we used the International HapMap project release 27 Data and Pharmacogenomics Knowledge Base (PharmGKB) database. First, we compared four measures for assessing population differentiation: the chi-square test, the analysis of variance (ANOVA) F-test, Fst, and Nearest Shrunken Centroid Method (NSCM). Fst showed high sensitivity with stable specificity among varying sample sizes; thus, we selected Fst for determining population differentiation. Second, we divided DR genes from PharmGKB into two groups based on the degree of population differentiation as assessed by Fst: genes with a high level of differentiation (HD gene group) and genes with a low level of differentiation (LD gene group). Last, we conducted a gene ontology (GO) analysis and pathway analysis. Using all genes in the human genome as the background, the GO analysis and pathway analysis of the HD genes identified terms related to cell communication. "Cell communication" and "cell-cell signaling" had the lowest Benjamini-Hochberg's q-values (0.0002 and 0.0006, respectively), and "drug binding" was highly enriched (16.51) despite its relatively high q-value (0.0142). Among the 17 genes related to cell communication identified in the HD gene group, five genes (STX4, PPARD, DCK, GRIK4, and DRD3) contained single nucleotide polymorphisms with Fst values greater than 0.5. Specifically, the Fst values for rs10871454, rs6922548, rs3775289, rs1954787, and rs167771 were 0.682, 0.620, 0.573, 0.531, and 0.510, respectively. In the analysis using DR genes as the background, the HD gene group contained six significant terms. Five were related to reproduction, and one was "Wnt signaling pathway," which has been implicated in cancer. Our analysis suggests that the HD gene group from PharmGKB is associated with

  15. Analysis of pharmacogenomic variants associated with population differentiation.

    Directory of Open Access Journals (Sweden)

    Bora Yeon

    Full Text Available In the present study, we systematically investigated population differentiation of drug-related (DR genes in order to identify common genetic features underlying population-specific responses to drugs. To do so, we used the International HapMap project release 27 Data and Pharmacogenomics Knowledge Base (PharmGKB database. First, we compared four measures for assessing population differentiation: the chi-square test, the analysis of variance (ANOVA F-test, Fst, and Nearest Shrunken Centroid Method (NSCM. Fst showed high sensitivity with stable specificity among varying sample sizes; thus, we selected Fst for determining population differentiation. Second, we divided DR genes from PharmGKB into two groups based on the degree of population differentiation as assessed by Fst: genes with a high level of differentiation (HD gene group and genes with a low level of differentiation (LD gene group. Last, we conducted a gene ontology (GO analysis and pathway analysis. Using all genes in the human genome as the background, the GO analysis and pathway analysis of the HD genes identified terms related to cell communication. "Cell communication" and "cell-cell signaling" had the lowest Benjamini-Hochberg's q-values (0.0002 and 0.0006, respectively, and "drug binding" was highly enriched (16.51 despite its relatively high q-value (0.0142. Among the 17 genes related to cell communication identified in the HD gene group, five genes (STX4, PPARD, DCK, GRIK4, and DRD3 contained single nucleotide polymorphisms with Fst values greater than 0.5. Specifically, the Fst values for rs10871454, rs6922548, rs3775289, rs1954787, and rs167771 were 0.682, 0.620, 0.573, 0.531, and 0.510, respectively. In the analysis using DR genes as the background, the HD gene group contained six significant terms. Five were related to reproduction, and one was "Wnt signaling pathway," which has been implicated in cancer. Our analysis suggests that the HD gene group from PharmGKB is

  16. Smoking and caffeine consumption: a genetic analysis of their association.

    Science.gov (United States)

    Treur, Jorien L; Taylor, Amy E; Ware, Jennifer J; Nivard, Michel G; Neale, Michael C; McMahon, George; Hottenga, Jouke-Jan; Baselmans, Bart M L; Boomsma, Dorret I; Munafò, Marcus R; Vink, Jacqueline M

    2017-07-01

    Smoking and caffeine consumption show a strong positive correlation, but the mechanism underlying this association is unclear. Explanations include shared genetic/environmental factors or causal effects. This study employed three methods to investigate the association between smoking and caffeine. First, bivariate genetic models were applied to data of 10 368 twins from the Netherlands Twin Register in order to estimate genetic and environmental correlations between smoking and caffeine use. Second, from the summary statistics of meta-analyses of genome-wide association studies on smoking and caffeine, the genetic correlation was calculated by LD-score regression. Third, causal effects were tested using Mendelian randomization analysis in 6605 Netherlands Twin Register participants and 5714 women from the Avon Longitudinal Study of Parents and Children. Through twin modelling, a genetic correlation of r0.47 and an environmental correlation of r0.30 were estimated between current smoking (yes/no) and coffee use (high/low). Between current smoking and total caffeine use, this was r0.44 and r0.00, respectively. LD-score regression also indicated sizeable genetic correlations between smoking and coffee use (r0.44 between smoking heaviness and cups of coffee per day, r0.28 between smoking initiation and coffee use and r0.25 between smoking persistence and coffee use). Consistent with the relatively high genetic correlations and lower environmental correlations, Mendelian randomization provided no evidence for causal effects of smoking on caffeine or vice versa. Genetic factors thus explain most of the association between smoking and caffeine consumption. These findings suggest that quitting smoking may be more difficult for heavy caffeine consumers, given their genetic susceptibility. © 2016 The Authors.Addiction Biology published by John Wiley & Sons Ltd on behalf of Society for the Study of Addiction.

  17. Geospatial analysis of food environment demonstrates associations with gestational diabetes.

    Science.gov (United States)

    Kahr, Maike K; Suter, Melissa A; Ballas, Jerasimos; Ramin, Susan M; Monga, Manju; Lee, Wesley; Hu, Min; Shope, Cindy D; Chesnokova, Arina; Krannich, Laura; Griffin, Emily N; Mastrobattista, Joan; Dildy, Gary A; Strehlow, Stacy L; Ramphul, Ryan; Hamilton, Winifred J; Aagaard, Kjersti M

    2016-01-01

    Gestational diabetes mellitus (GDM) is one of most common complications of pregnancy, with incidence rates varying by maternal age, race/ethnicity, obesity, parity, and family history. Given its increasing prevalence in recent decades, covariant environmental and sociodemographic factors may be additional determinants of GDM occurrence. We hypothesized that environmental risk factors, in particular measures of the food environment, may be a diabetes contributor. We employed geospatial modeling in a populous US county to characterize the association of the relative availability of fast food restaurants and supermarkets to GDM. Utilizing a perinatal database with >4900 encoded antenatal and outcome variables inclusive of ZIP code data, 8912 consecutive pregnancies were analyzed for correlations between GDM and food environment based on countywide food permit registration data. Linkage between pregnancies and food environment was achieved on the basis of validated 5-digit ZIP code data. The prevalence of supermarkets and fast food restaurants per 100,000 inhabitants for each ZIP code were gathered from publicly available food permit sources. To independently authenticate our findings with objective data, we measured hemoglobin A1c levels as a function of geospatial distribution of food environment in a matched subset (n = 80). Residence in neighborhoods with a high prevalence of fast food restaurants (fourth quartile) was significantly associated with an increased risk of developing GDM (relative to first quartile: adjusted odds ratio, 1.63; 95% confidence interval, 1.21-2.19). In multivariate analysis, this association held true after controlling for potential confounders (P = .002). Measurement of hemoglobin A1c levels in a matched subset were significantly increased in association with residence in a ZIP code with a higher fast food/supermarket ratio (n = 80, r = 0.251 P food environment and risk for gestational diabetes was identified. Copyright © 2016

  18. Spatial Analysis of Case-Mix and Dialysis Modality Associations.

    Science.gov (United States)

    Phirtskhalaishvili, Tamar; Bayer, Florian; Edet, Stephane; Bongiovanni, Isabelle; Hogan, Julien; Couchoud, Cécile

    2016-01-01

    ♦ Health-care systems must attempt to provide appropriate, high-quality, and economically sustainable care that meets the needs and choices of patients with end-stage renal disease (ESRD). France offers 9 different modalities of dialysis, each characterized by dialysis technique, the extent of professional assistance, and the treatment site. The aim of this study was 1) to describe the various dialysis modalities in France and the patient characteristics associated with each of them, and 2) to analyze their regional patterns to identify possible unexpected associations between case-mixes and dialysis modalities. ♦ The clinical characteristics of the 37,421 adult patients treated by dialysis were described according to their treatment modality. Agglomerative hierarchical cluster analysis was used to aggregate the regions into clusters according to their use of these modalities and the characteristics of their patients. ♦ The gradient of patient characteristics was similar from home hemodialyis (HD) to in-center HD and from non-assisted automated peritoneal dialysis (APD) to assisted continuous ambulatory peritoneal dialysis (CAPD). Analyzing their spatial distribution, we found differences in the patient case-mix on dialysis across regions but also differences in the health-care provided for them. The classification of the regions into 6 different clusters allowed us to detect some unexpected associations between case-mixes and treatment modalities. ♦ The 9 modalities of treatment available make it theoretically possible to adapt treatment to patients' clinical characteristics and abilities. However, although we found an overall appropriate association of dialysis modalities to the case-mix, major inter-region heterogeneity and the low rate of peritoneal dialysis (PD) and home HD suggest that factors besides patients' clinical conditions impact the choice of dialysis modality. The French organization should now be evaluated in terms of patients' quality of

  19. Beyond Intra-Transaction Association Analysis: Mining Multi-Dimensional Inter-Transaction Association Rules

    NARCIS (Netherlands)

    Lu, H.J.; Feng, L.; Han, J.W.

    2000-01-01

    In this paper, we extend the scope of mining association rules from traditional single-dimensional intratransaction associations, to multidimensional intertransaction associations. Intratransaction associations are the associations among items with the same transaction, where the notion of the

  20. A strategy analysis for genetic association studies with known inbreeding

    Directory of Open Access Journals (Sweden)

    del Giacco Stefano

    2011-07-01

    Full Text Available Abstract Background Association studies consist in identifying the genetic variants which are related to a specific disease through the use of statistical multiple hypothesis testing or segregation analysis in pedigrees. This type of studies has been very successful in the case of Mendelian monogenic disorders while it has been less successful in identifying genetic variants related to complex diseases where the insurgence depends on the interactions between different genes and the environment. The current technology allows to genotype more than a million of markers and this number has been rapidly increasing in the last years with the imputation based on templates sets and whole genome sequencing. This type of data introduces a great amount of noise in the statistical analysis and usually requires a great number of samples. Current methods seldom take into account gene-gene and gene-environment interactions which are fundamental especially in complex diseases. In this paper we propose to use a non-parametric additive model to detect the genetic variants related to diseases which accounts for interactions of unknown order. Although this is not new to the current literature, we show that in an isolated population, where the most related subjects share also most of their genetic code, the use of additive models may be improved if the available genealogical tree is taken into account. Specifically, we form a sample of cases and controls with the highest inbreeding by means of the Hungarian method, and estimate the set of genes/environmental variables, associated with the disease, by means of Random Forest. Results We have evidence, from statistical theory, simulations and two applications, that we build a suitable procedure to eliminate stratification between cases and controls and that it also has enough precision in identifying genetic variants responsible for a disease. This procedure has been successfully used for the beta-thalassemia, which is

  1. Gene expression analysis in human breast cancer associated blood vessels.

    Directory of Open Access Journals (Sweden)

    Dylan T Jones

    Full Text Available Angiogenesis is essential for solid tumour growth, whilst the molecular profiles of tumour blood vessels have been reported to be different between cancer types. Although presently available anti-angiogenic strategies are providing some promise for the treatment of some cancers it is perhaps not surprisingly that, none of the anti-angiogenic agents available work on all tumours. Thus, the discovery of novel anti-angiogenic targets, relevant to individual cancer types, is required. Using Affymetrix microarray analysis of laser-captured, CD31-positive blood vessels we have identified 63 genes that are upregulated significantly (5-72 fold in angiogenic blood vessels associated with human invasive ductal carcinoma (IDC of the breast as compared with blood vessels in normal human breast. We tested the angiogenic capacity of a subset of these genes. Genes were selected based on either their known cellular functions, their enriched expression in endothelial cells and/or their sensitivity to anti-VEGF treatment; all features implicating their involvement in angiogenesis. For example, RRM2, a ribonucleotide reductase involved in DNA synthesis, was upregulated 32-fold in IDC-associated blood vessels; ATF1, a nuclear activating transcription factor involved in cellular growth and survival was upregulated 23-fold in IDC-associated blood vessels and HEX-B, a hexosaminidase involved in the breakdown of GM2 gangliosides, was upregulated 8-fold in IDC-associated blood vessels. Furthermore, in silico analysis confirmed that AFT1 and HEX-B also were enriched in endothelial cells when compared with non-endothelial cells. None of these genes have been reported previously to be involved in neovascularisation. However, our data establish that siRNA depletion of Rrm2, Atf1 or Hex-B had significant anti-angiogenic effects in VEGF-stimulated ex vivo mouse aortic ring assays. Overall, our results provide proof-of-principle that our approach can identify a cohort of

  2. Induction and Analysis of Bronchus-Associated Lymphoid Tissue.

    Science.gov (United States)

    Fleige, Henrike; Förster, Reinhold

    2017-01-01

    Bronchus-associated lymphoid tissue (BALT) forms spontaneously in the lung after pulmonary infection and has been identified as a highly organized lymphoid structure supporting the efficient priming of T cells in the lung. To explore the mechanisms and instructive signals controlling BALT neogenesis we used both, a single dose of vaccinia virus MVA and repeated inhalations of heat-inactivated Pseudomonas aeruginosa (P. aeruginosa). Intranasal administration of both pathogens induces highly organized BALT but distinct pathways and molecules are used to promote the development of BALT. Here, we describe the induction and phenotype of the distinct types of BALT as well as the immunofluorescence microscopy-based analysis of the induced lymphoid tissue in the lung.

  3. Association Between Bisphosphonates Therapy and Incident Myocardial Infarction: Meta-analysis and Trial Sequential Analysis.

    Science.gov (United States)

    Huang, Bao-tao; Huang, Fang-yang; Gui, Yi-yue; Peng, Yong; Liu, Wei; Huang, Kai-sen; Zhang, Chen; Zuo, Zhi-liang; Liao, Yan-biao; Xia, Tian-li; Chen, Shi-jian; Pu, Xiao-bo; Chen, Mao

    2015-11-01

    Bisphosphonates have shown potential to inhibit atherosclerosis in animal experiments; however, whether bisphosphonates therapy lowers the risk of incidence of myocardial infarction (MI) is debated. We performed the meta-analysis and trial sequential analysis (TSA) to investigate the relation between bisphosphonates therapy and incident MI. Pubmed and Embase databases were systematically searched in April 2015 to identify studies, which compared the incidence of MI in subjects receiving bisphosphonates with that in subjects not receiving the agents. Meta-analysis was conducted using random effects model in consideration of statistical heterogeneity between studies. Reliability of the results from meta-analysis was examined using TSA. Six observational studies (n = 440261) and 3 randomized control trials (RCTs, n = 11,024) met the eligible criteria. In the pooled analysis of observational studies, bisphosphonates therapy was not associated with reduced risk of MI either using unadjusted estimates (relative risk 0.93, 95% confidence interval (CI), 0.75-1.15) or estimates adjusted for confounding factors (hazard ratio 1.01, 95% CI, 0.84-1.21). Furthermore, hazard of incident MI did not differ between alendronate users and nonusers. TSA showed that evidence from observational studies firmly precluded the association between bisphosphonates and incident MI. Pooled analysis of RCTs also suggested no benefits of decrease in incident MI associated with bisphosphonates therapy (relative risk 1.05, 95% CI, 0.53-2.09). However, TSA demonstrated that evidence from RCTs was insufficient to draw a conclusion. Despite the encouraging findings from animal studies, bisphosphonates therapy is not associated with reduced risk of MI.

  4. Analysis of factors associated with excess weight in school children.

    Science.gov (United States)

    Pinto, Renata Paulino; Nunes, Altacílio Aparecido; de Mello, Luane Marques

    2016-12-01

    To determine the prevalence of overweight and obesity in schoolchildren aged 10 to 16 years and its association with dietary and behavioral factors. Cross-sectional study that evaluated 505 adolescents using a structured questionnaire and anthropometric data. The data was analyzed through the T Test for independent samples and Mann-Whitney Test to compare means and medians, respectively, and Chi 2 Test for proportions. Prevalence Ratio (RP) and the 95% confidence interval was used to estimate the degree of association between variables. The logistic regression was employed to adjust the estimates to confounding factors. The significance level of 5% was considered for all analysis. Excess weight was observed in 30.9% of the schoolchildren: 18.2% of overweight and 12.7% of obesity. There was no association between weight alterations and dietary/behavioral habits in the bivariate and multivariate analyses. However, associations were observed in relation to gender. Daily consumption of sweets [PR=0.75 (0.64-0.88)] and soft drinks [PR=0.82 (0.70-0.97)] was less frequent among boys; having lunch daily was slightly more often reported by boys [OR=1.11 (1.02-1.22)]. Physical activity practice of (≥3 times/week) was more often mentioned by boys and the association measures disclosed two-fold more physical activity in this group [PR=2.04 (1.56-2.67)] when compared to girls. Approximately 30% of boys and 40% of girls stated they did not perform activities requiring energy expenditure during free periods, with boys being 32% less idle than girls [PR=0.68 (0.60-0.76)]. A high prevalence of both overweight and obesity was observed, as well as unhealthy habits in the study population, regardless of the presence of weight alterations. Health promotion strategies in schools should be encouraged, in order to promote healthy habits and behaviors among all students. Copyright © 2016 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  5. Risk analysis associated with petroleum hydrocarbons: is everything running smoothly?

    International Nuclear Information System (INIS)

    Morin, D.

    1999-01-01

    Petroleum products represent one of the main sources of environmental contamination, and these products are complex, composed of several hundred individual hydrocarbons. The evaluation of the risks associated with petroleum products is often limited by certain specific parameters such as benzene. The petroleum hydrocarbons running from C(10) to C(50) are not often integrated in an analysis of the toxological risks since the toxological characterization of a complex mixture of hydrocarbons is difficult to carry out. There exist in the United States two approaches that were developed recently that allow the integration of various hydrocarbons comprising a mixture. In this presentation, two of these approaches are described and compared. An overview of these approaches related to Canadian regulatory bodies is included, and a case study completes the account. The two approaches that are most well known in this area are: 1) that of the Massachusetts Dept. of Environmental Protection, and 2) that of the Total Petroleum Hydrocarbon Criteria Working Group. The integration of petroleum hydrocarbons in a quantitative evaluation of their toxological risk is possible by present methods. This integration allows a reduction in the uncertainty associated with the use of an integrating parameter in the case of these petroleum hydrocarbons in the C(10) to the C(50) range

  6. GPFrontend and GPGraphics: graphical analysis tools for genetic association studies.

    Science.gov (United States)

    Uebe, Steffen; Pasutto, Francesca; Krumbiegel, Mandy; Schanze, Denny; Ekici, Arif B; Reis, André

    2010-09-21

    Most software packages for whole genome association studies are non-graphical, purely text based programs originally designed to run with UNIX-like operating systems. Graphical output is often not intended or supposed to be performed with other command line tools, e.g. gnuplot. Using the Microsoft .NET 2.0 platform and Visual Studio 2005, we have created a graphical software package to analyze data from microarray whole genome association studies, both for a DNA-pooling based approach as well as regular single sample data. Part of this package was made to integrate with GenePool 0.8.2, a previously existing software suite for GNU/Linux systems, which we have modified to run in a Microsoft Windows environment. Further modifications cause it to generate some additional data. This enables GenePool to interact with the .NET parts created by us. The programs we developed are GPFrontend, a graphical user interface and frontend to use GenePool and create metadata files for it, and GPGraphics, a program to further analyze and graphically evaluate output of different WGA analysis programs, among them also GenePool. Our programs enable regular MS Windows users without much experience in bioinformatics to easily visualize whole genome data from a variety of sources.

  7. GPFrontend and GPGraphics: graphical analysis tools for genetic association studies

    Directory of Open Access Journals (Sweden)

    Schanze Denny

    2010-09-01

    Full Text Available Abstract Background Most software packages for whole genome association studies are non-graphical, purely text based programs originally designed to run with UNIX-like operating systems. Graphical output is often not intended or supposed to be performed with other command line tools, e.g. gnuplot. Results Using the Microsoft .NET 2.0 platform and Visual Studio 2005, we have created a graphical software package to analyze data from microarray whole genome association studies, both for a DNA-pooling based approach as well as regular single sample data. Part of this package was made to integrate with GenePool 0.8.2, a previously existing software suite for GNU/Linux systems, which we have modified to run in a Microsoft Windows environment. Further modifications cause it to generate some additional data. This enables GenePool to interact with the .NET parts created by us. The programs we developed are GPFrontend, a graphical user interface and frontend to use GenePool and create metadata files for it, and GPGraphics, a program to further analyze and graphically evaluate output of different WGA analysis programs, among them also GenePool. Conclusions Our programs enable regular MS Windows users without much experience in bioinformatics to easily visualize whole genome data from a variety of sources.

  8. CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

    DEFF Research Database (Denmark)

    Macé, Aurélien; Tuke, Marcus A; Deelen, Patrick

    2017-01-01

    There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits in up to 191,161 adult samples from 26 cohorts. The study reveals five CNV associations ...

  9. Evolutionary Analysis of DELLA-Associated Transcriptional Networks

    Directory of Open Access Journals (Sweden)

    Miguel A. Blázquez

    2017-04-01

    Full Text Available DELLA proteins are transcriptional regulators present in all land plants which have been shown to modulate the activity of over 100 transcription factors in Arabidopsis, involved in multiple physiological and developmental processes. It has been proposed that DELLAs transduce environmental information to pre-wired transcriptional circuits because their stability is regulated by gibberellins (GAs, whose homeostasis largely depends on environmental signals. The ability of GAs to promote DELLA degradation coincides with the origin of vascular plants, but the presence of DELLAs in other land plants poses at least two questions: what regulatory properties have DELLAs provided to the behavior of transcriptional networks in land plants, and how has the recruitment of DELLAs by GA signaling affected this regulation. To address these issues, we have constructed gene co-expression networks of four different organisms within the green lineage with different properties regarding DELLAs: Arabidopsis thaliana and Solanum lycopersicum (both with GA-regulated DELLA proteins, Physcomitrella patens (with GA-independent DELLA proteins and Chlamydomonas reinhardtii (a green alga without DELLA, and we have examined the relative evolution of the subnetworks containing the potential DELLA-dependent transcriptomes. Network analysis indicates a relative increase in parameters associated with the degree of interconnectivity in the DELLA-associated subnetworks of land plants, with a stronger effect in species with GA-regulated DELLA proteins. These results suggest that DELLAs may have played a role in the coordination of multiple transcriptional programs along evolution, and the function of DELLAs as regulatory ‘hubs’ became further consolidated after their recruitment by GA signaling in higher plants.

  10. Neutron activation analysis for uranium and associated elements

    International Nuclear Information System (INIS)

    Bowman, W.W.

    1977-01-01

    The samples obtained by the Savannah River Laboratory as part of the National Uranium Resource Evaluation program are activated in the intense neutron flux from a Savannah River Plant production reactor. A pilot-scale facility was installed at the reactor site to provide analyses of samples through the initial phase of the program and to develop design data for a full-scale facility. Sediments are analyzed by direct activation of 0.5-g samples. However, to analyze ground or surface water samples, mineral elements from 1-liter samples are concentrated on ion exchange resin and then approximately 5-g samples of resin are activated. Uranium concentration is determined by counting neutrons emitted from specific short-lived products of fission induced in 235 U by the primary neutron flux. Repetitive short cycles of irradiation and counting permit detection and determination of <0.1 μg of uranium. Elements associated with uranium are determined by spectral analysis of the gamma ray activities induced by the cyclic and subsequent longer irradiations. The pilot facility consists of four irradiation positions (plus 2 spare positions), a sample loader and unloader, and counting stations with neutron and gamma ray detectors, all interconnected with a pneumatic sample transport system. A computer controls both the transport system and the data acquisition devices. Gamma ray counting data are stored on magnetic tape for further processing by a large central computer. Facility hardware and software are described. Repetitive analyses of standards have shown an accuracy within +-10% for uranium values and within +-25% for associated elements. A quality assurance program has been developed to maintain these levels of reliability

  11. Analysis of Factors Associated With Rhytidectomy Malpractice Litigation Cases.

    Science.gov (United States)

    Kandinov, Aron; Mutchnick, Sean; Nangia, Vaibhuv; Svider, Peter F; Zuliani, Giancarlo F; Shkoukani, Mahdi A; Carron, Michael A

    2017-07-01

    This study investigates the financial burden of medical malpractice litigation associated with rhytidectomies, as well as factors that contribute to litigation and poor defendant outcomes, which can help guide physician practices. To comprehensively evaluate rhytidectomy malpractice litigation. Jury verdict and settlement reports related to rhytidectomy malpractice litigations were obtained using the Westlaw Next database. Use of medical malpractice in conjunction with several terms for rhytidectomy, to account for the various procedure names associated with the procedure, yielded 155 court cases. Duplicate and nonrelevant cases were removed, and 89 cases were included in the analysis and reviewed for outcomes, defendant specialty, payments, and other allegations raised in proceedings. Data were collected from November 21, 2015, to December 25, 2015. Data analysis took place from December 25, 2015, to January 20, 2016. A total of 89 cases met our inclusion criteria. Most plaintiffs were female (81 of 88 with known sex [92%]), and patient age ranged from 40 to 76 years (median age, 56 years). Fifty-three (60%) were resolved in the defendant's favor, while the remaining 36 cases (40%) were resolved with either a settlement or a plaintiff verdict payment. The mean payment was $1.4 million. A greater proportion of cases involving plastic surgeon defendants were resolved with payment compared with cases involving defendants with ear, nose, and throat specialty (15 [36%] vs 4 [24%]). The most common allegations raised in litigation were intraoperative negligence (61 [69%]), poor cosmesis or disfigurement (57 [64%]), inadequate informed consent (30 [34%]), additional procedures required (14 [16%]), postoperative negligence (12 [14%]), and facial nerve injury (10 [11%]). Six cases (7%) involved alleged negligence surrounding a "lifestyle-lift" procedure, which tightens or oversews the superficial muscular aponeurosis system layer. In this study, although most cases of

  12. Molecular analysis of microbiota associated with peri-implant diseases.

    Science.gov (United States)

    Al-Radha, Afya Sahib Diab; Pal, Abhi; Pettemerides, Andre Philip; Jenkinson, Howard F

    2012-11-01

    The aim of this study was to identify bacteria associated with peri-implant diseases using Denaturing Gradient Gel Electrophoresis (DGGE) as a method for microbiological assessment. Subgingival plaque samples along with essential patient information and clinical indices were taken from 22 subjects showing signs of peri-implant diseases. Bacteria were detected from extracted DNA either by species specific PCR, or by using PCR coupled with DGGE and subsequent sequencing of resolved and excised bands. Altogether, approximately 26 different species were identified as components of peri-implant plaque, including non-culturable bacteria. Percentages of periodonto pathogenic bacterial species in plaque samples were: 82% of shallow pocket (7.5mm). A positive correlation was found between highly pathogenic bacteria and both Gingival Index score and pocket depth. DGGE in combination with sequence analysis is a comprehensive and sensitive microbiological method for detection and identification of multiple bacterial species in peri-implant disease conditions. This makes it a valuable microbiological diagnostic method to help the clinician to conduct a more accurate clinical diagnosis and to plan appropriate treatment for peri-implant diseases. Based on results, Fusobacterium and Prevotella species were most prevalent in early stages of disease whilst an increased diversity of species was present during more advanced stages of disease. Copyright © 2012 Elsevier Ltd. All rights reserved.

  13. Smoking and caffeine consumption: a genetic analysis of their association

    NARCIS (Netherlands)

    Treur, J.L.; Taylor, A.E.; Ware, J.J.; Nivard, M.G.; Neale, M.C.; McMahon, G.; Hottenga, J.J.; Baselmans, B.M.L.; Boomsma, D.I.; Munafò, M.; Vink, J.M.

    2017-01-01

    Smoking and caffeine consumption show a strong positive correlation, but the mechanism underlying this association is unclear. Explanations include shared genetic/environmental factors or causal effects. This study employed three methods to investigate the association between smoking and caffeine.

  14. On the impact of relatedness on SNP association analysis.

    Science.gov (United States)

    Gross, Arnd; Tönjes, Anke; Scholz, Markus

    2017-12-06

    When testing for SNP (single nucleotide polymorphism) associations in related individuals, observations are not independent. Simple linear regression assuming independent normally distributed residuals results in an increased type I error and the power of the test is also affected in a more complicate manner. Inflation of type I error is often successfully corrected by genomic control. However, this reduces the power of the test when relatedness is of concern. In the present paper, we derive explicit formulae to investigate how heritability and strength of relatedness contribute to variance inflation of the effect estimate of the linear model. Further, we study the consequences of variance inflation on hypothesis testing and compare the results with those of genomic control correction. We apply the developed theory to the publicly available HapMap trio data (N=129), the Sorbs (a self-contained population with N=977 characterised by a cryptic relatedness structure) and synthetic family studies with different sample sizes (ranging from N=129 to N=999) and different degrees of relatedness. We derive explicit and easily to apply approximation formulae to estimate the impact of relatedness on the variance of the effect estimate of the linear regression model. Variance inflation increases with increasing heritability. Relatedness structure also impacts the degree of variance inflation as shown for example family structures. Variance inflation is smallest for HapMap trios, followed by a synthetic family study corresponding to the trio data but with larger sample size than HapMap. Next strongest inflation is observed for the Sorbs, and finally, for a synthetic family study with a more extreme relatedness structure but with similar sample size as the Sorbs. Type I error increases rapidly with increasing inflation. However, for smaller significance levels, power increases with increasing inflation while the opposite holds for larger significance levels. When genomic control

  15. Bioinformatic analysis of pivotal genes associated with septic shock.

    Science.gov (United States)

    Liu, S Y; Zhang, L; Zhang, Y; Zhen, Y; Wu, Y F

    2017-01-01

    We aimed to identify important genes associated with septic shock and then explore the possibly significant mechanisms of this disease. We downloaded GSE26440 expression data of samples from 98 children with septic shock and 32 normal controls from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) in samples from patients with septic shock were analyzed in comparison with those in samples from normal controls using a limma package. Functional enrichment analysis for DEGs was performed using DAVID, and a protein–protein interaction (PPI) network was constructed. Upstream transcription factors for DEGs were predicted using the CHIPBase database, and a transcriptional regulation network was constructed. A total of 383 significantly DEGs, including 141 downregulated and 242 upregulated genes, were obtained in the sepsis shock group compared with the normal group. The top five nodes in the PPI network were lysine (K)-specific demethylase 6B (KDM6B), histone deacetylase 2 (HDAC2), V-Myc avian myelocytomatosis viral oncogene homolog (MYC), heat-shock protein 90 kDa alpha (cytosolic), class B member 1 (HSP90AB1), and poly (A)-binding protein, cytoplasmic 1 (PABPC1). Nuclear factor kappa-light-chain-enhancer of activated B cells (NFkB) was the transcription factor targeted by most genes, and it regulated the expression of KDM6B, HDAC2, MYC, HSP90AB1, and PABPC1. In conclusion, KDM6B, HDAC2, MYC, HSP90AB1, and PABPC1 may play important roles in the development of septic shock. Furthermore, NFκB may be involved in septic shock by regulating the expression of KDM6B, HDAC2, MYC, HSP90AB1, and PABPC1.

  16. Association between fat mass- and obesity-associated (FTO gene polymorphism and polycystic ovary syndrome: a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Xianli Cai

    Full Text Available Many studies have investigated the relationship between FTO gene polymorphism and polycystic ovary syndrome (PCOS susceptibility but revealed mixed results. In this study, we aimed to perform a meta-analysis to clarify this association.Published literature from PubMed, Embase and CNKI was retrieved. Meta-analysis was performed to calculate pooled odds ratio (OR with 95% confidence interval (CI using the random- or fix- effects model.A total of 5 studies (4778 cases and 4272 controls were included in our meta-analysis. The results suggested that FTO rs9939609 polymorphism (or its proxy was marginally associated with PCOS risk after adjustment for body mass index (BMI (OR = 1.26; 95%CI: 1.02-1.55. However, the marginal association was not stable after sensitivity analysis. In the subgroup analysis by ethnicity, the association was significant in East Asians (OR = 1.43, 95%CI = 1.30-1.59 but not in Caucasians (OR = 1.04, 95%CI = 0.85-1.29.Our present meta-analysis indicated that FTO rs9939609 polymorphism (or its proxy might not be associated with risk of PCOS in overall population. However, in East Asians, there might be a direct association between FTO variant and PCOS risk, which is independent of BMI (adiposity.

  17. Time Variations of Association Rules in Market Basket Analysis

    OpenAIRE

    Papavasileiou, Vasileios; Tsadiras, Athanasios

    2011-01-01

    Part 3: Financial and Management Applications of AI; International audience; This article introduces the concept of the variability of association rules of products through the estimate of a new indicator called overall variability of association rules (OCVR). The proposed indicator applied to super market chain products, tries to highlight product market baskets, with great variability in consumer behavior. Parameter of the variability of association rules in connection with changes in the p...

  18. Association analysis of polymorphism in KIAA1717, HUMMLC2B ...

    African Journals Online (AJOL)

    Single nucleotide polymorphisms (SNPs) in KIAA1717, HUMMLC2B, DECR1, and FTO genes have been found to be associated with some pork meat quality traits. ... with meat color (CIE L), backfat thickness, drip loss, water-holding capacity, and pH24hr; a SNP in HUMMLC2B was associated with chemical composition ...

  19. A preliminary assessment of association-analysis in the Kroonstad ...

    African Journals Online (AJOL)

    Local frequency and constancy estimates were computed for various groupings. Association tables were drawn up for major groupings and Poore's "successive approximation" approach was adopted in reducing species association to noda. There is a strong subjective element in this determination of noda, and an effort ...

  20. A systematic analysis of the association studies between CASP8 ...

    Indian Academy of Sciences (India)

    Yinliang Zhang

    Abstract. Caspase 8 (CASP8) is a regulator of apoptosis, whose genetic variation has been reported to be associated with the risk of various cancers. Especially, the single-nucleotide polymorphism (SNP) rs1045485, which generates the substitution. D302H in CASP8, is likely to be associated with breast cancer. Several ...

  1. A systematic analysis of the association studies between CASP8 ...

    Indian Academy of Sciences (India)

    Abstract. Caspase 8 (CASP8) is a regulator of apoptosis, whose genetic variation has been reported to be associated with the risk of various cancers. Specifically, the single nucleotide polymorphism (SNP) rs1045485, which generates the substitution D302H in CASP8, is likely to be associated with breast cancer. Several ...

  2. Genetic association analysis of LARS2 with type 2 diabetes

    DEFF Research Database (Denmark)

    Reiling, E; Jafar-Mohammadi, B; van 't Riet, E

    2010-01-01

    AIMS/HYPOTHESIS: LARS2 has been previously identified as a potential type 2 diabetes susceptibility gene through the low-frequency H324Q (rs71645922) variant (minor allele frequency [MAF] 3.0%). However, this association did not achieve genome-wide levels of significance. The aim of this study...... was to establish the true contribution of this variant and common variants in LARS2 (MAF > 5%) to type 2 diabetes risk. METHODS: We combined genome-wide association data (n = 10,128) from the DIAGRAM consortium with independent data derived from a tagging single nucleotide polymorphism (SNP) approach in Dutch...... individuals (n = 999) and took forward two SNPs of interest to replication in up to 11,163 Dutch participants (rs17637703 and rs952621). In addition, because inspection of genome-wide association study data identified a cluster of low-frequency variants with evidence of type 2 diabetes association, we...

  3. A Functional Genomic Analysis of NF1-Associated Learning Disabilities

    National Research Council Canada - National Science Library

    Tang, Shao-Jun

    2008-01-01

    Learning disabilities severely deteriorate the life of many NF1 patients. However, the pathogenic process for NF1-associated learning disabilities has not been fully understood and an effective therapy is not available...

  4. A Functional Genomic Analysis of NF1-Associated Learning Disabilities

    National Research Council Canada - National Science Library

    Tang, Shao-Jun

    2006-01-01

    Learning disabilities severely deteriorate the life of many NFI patients. However, the pathogenic process for NFI-associated learning disabilities has not been fully understood and an effective therapy is not available...

  5. A Functional Genomic Analysis of NF1-Associated Learning Disabilities

    National Research Council Canada - National Science Library

    Tang, Shao-Jun

    2007-01-01

    Learning disabilities severely deteriorate the life of many NF1 patients. However, the pathogenic process for NF1-associated learning disabilities has not been fully understood and an effective therapy is not available...

  6. Association rule mining data for census tract chemical exposure analysis

    Data.gov (United States)

    U.S. Environmental Protection Agency — Chemical concentration, exposure, and health risk data for U.S. census tracts from National Scale Air Toxics Assessment (NATA). This dataset is associated with the...

  7. Association analysis identifies ZNF750 regulatory variants in psoriasis

    Directory of Open Access Journals (Sweden)

    Birnbaum Ramon Y

    2011-12-01

    Full Text Available Abstract Background Mutations in the ZNF750 promoter and coding regions have been previously associated with Mendelian forms of psoriasis and psoriasiform dermatitis. ZNF750 encodes a putative zinc finger transcription factor that is highly expressed in keratinocytes and represents a candidate psoriasis gene. Methods We examined whether ZNF750 variants were associated with psoriasis in a large case-control population. We sequenced the promoter and exon regions of ZNF750 in 716 Caucasian psoriasis cases and 397 Caucasian controls. Results We identified a total of 47 variants, including 38 rare variants of which 35 were novel. Association testing identified two ZNF750 haplotypes associated with psoriasis (p ZNF750 promoter and 5' UTR variants displayed a 35-55% reduction of ZNF750 promoter activity, consistent with the promoter activity reduction seen in a Mendelian psoriasis family with a ZNF750 promoter variant. However, the rare promoter and 5' UTR variants identified in this study did not strictly segregate with the psoriasis phenotype within families. Conclusions Two haplotypes of ZNF750 and rare 5' regulatory variants of ZNF750 were found to be associated with psoriasis. These rare 5' regulatory variants, though not causal, might serve as a genetic modifier of psoriasis.

  8. Genotyping and phylogenetic analysis of Acanthamoeba isolates associated with keratitis.

    Science.gov (United States)

    Risler, Arnaud; Coupat-Goutaland, Bénédicte; Pélandakis, Michel

    2013-11-01

    We examined a partial SSU-rDNA sequence from 20 Acanthamoeba isolates associated with keratitis infections. The phylogenetic tree inferred from this partial sequence allowed to assign isolates to genotypes. Among the 20 isolates examined, 16 were found to be of the T4 genotype, 2 were T3, 1 was a T5, and 1 was a T2, confirming the predominance of T4 in infections. However, the study highlighted other genotypes more rarely associated with infections, particularly the T2 genotype. Our study is the second one to detect that this genotype is associated with keratitis. Additionally, the phylogenetic analyses showed five main emerging clusters, T4/T3/T11, T2/T6, T10/T12/T14, T13/T16, and T7/T8/T9/T17, regularly obtained whichever method was used. A similar branching pattern was found when the full rDNA sequence was investigated.

  9. Analysis of biofilm formation and associated gene detection in ...

    African Journals Online (AJOL)

    The objective of this study was to investigate the biofilm-forming ability and distribution of biofilm associated genes in clinically isolated Staphylococcus in bovine mastitis. Silver staining, scanning electron microscopy (SEM) and crystal violet staining were conducted for the detection of biofilmforming ability in 24-well plates.

  10. Genomewide association analysis for awn length linked to the seed ...

    Indian Academy of Sciences (India)

    2Hubei Collaborative Innovation Center for Grain Industry, Yangtz University, Jinzhou 434025, People's Republic of China. Abstract ... populations. Special interest was the detection of the most significant association SNP, sf0136352825, which was less than. 95 kb from the seed shattering gene qSH1. These results may ...

  11. Association test with the principal component analysis in case ...

    Indian Academy of Sciences (India)

    PCA) to test association between multiple markers and the disease-susceptibility gene in case–parents data set. The proposed statistic is based on a difference vec- tor calculated by comparing the genotypes of affected off- spring with the ...

  12. The Dynamics of Associations and Foundations in Romania. Econometric Analysis

    Directory of Open Access Journals (Sweden)

    Chelariu Gabriel

    2017-09-01

    Full Text Available This article highlights the evolutionary trend of the associations and foundations in Romania in 1997 – 2015 period of time. We know that the NPO's activities come to cover the people's needs which cannot be supported by the state or by the private sector. More precisely, the major roles of the NPO sector are: supporting disadvantaged groups and the social causes, sustaining the role of "watchdog", and promoting the advocacy and public policy expertise. For this reason, we propose an econometric model that will be applied to establish the link between the number of the association and foundations, poverty rate, unemployment rate and the average monthly expenditure per household. We consider that the last three factors are relevant to the country’s social economy and, at the same time, they represent the main objectives of the EUROPE 2020 Strategy - a strategy for smart, sustainable and inclusive growth. The study is based on numerical data collected over a period of 12 years from 2003 to 2014. For the econometric model, we use IBM SPSS 22 software, in analyzing the collected data. After processing the data we will find a positive and significant relation between the number of associations and foundations (AF, the average monthly expenditure per household and the poverty rate. At the same time, we will find an insignificant relation between the number of associations and foundations and the unemployment rate.

  13. Genetic analysis and QTL mapping of maize yield and associate ...

    African Journals Online (AJOL)

    A total of 51 QTLs were identified for 10 traits on 10 different chromosomes. Under the well-watered regime, 25 QTLs were identified for 9 traits, whereas under the water-stressed conditions, 22 QTLs were found for 7 traits. Four QTLs for drought tolerance index were found. Phenotypic variation associated with each QTL ...

  14. Multilevel Analysis of Factors Associated with Child Mortality in ...

    African Journals Online (AJOL)

    The purpose of this paper is to examine the effect of factors associated with child mortality in Uganda. The Demographic and Health Survey data set (2006) is used to investigate these factors. A random effects regression model and logistic regression model were fitted to establish the significant factors affecting child ...

  15. Analysis of stability parameters in relation to precipitation associated ...

    Indian Academy of Sciences (India)

    For this purpose, the pre-monsoon thunderstorms are classified as light precipitation (LP), moderate precipitation (MP) and heavy precipitation (HP) thunderstorms based on the magnitude of associated precipitation. Richardson number in non-uniformly saturated (i*) and saturated atmosphere (i); vertical shear of ...

  16. Matrix analysis for associated consistency in cooperative game theory

    NARCIS (Netherlands)

    Xu Genjiu, G.; Driessen, Theo; Sun, H.; Sun, H.

    Hamiache axiomatized the Shapley value as the unique solution verifying the inessential game property, continuity and associated consistency. Driessen extended Hamiache’s axiomatization to the enlarged class of efficient, symmetric, and linear values. In this paper, we introduce the notion of row

  17. Matrix analysis for associated consistency in cooperative game theory

    NARCIS (Netherlands)

    Xu, G.; Driessen, Theo; Sun, H.; Sun, H.

    Hamiache's recent axiomatization of the well-known Shapley value for TU games states that the Shapley value is the unique solution verifying the following three axioms: the inessential game property, continuity and associated consistency. Driessen extended Hamiache's axiomatization to the enlarged

  18. Plasmodium falciparum transcriptome analysis reveals pregnancy malaria associated gene expression

    DEFF Research Database (Denmark)

    Tuikue Ndam, Nicaise; Bischoff, Emmanuel; Proux, Caroline

    2008-01-01

    BACKGROUND: Pregnancy-associated malaria (PAM) causing maternal anemia and low birth weight is among the multiple manifestations of Plasmodium falciparum malaria. Infected erythrocytes (iEs) can acquire various adhesive properties that mediate the clinical severity of malaria. Recent advances...

  19. Association analysis identifies 65 new breast cancer risk loci

    NARCIS (Netherlands)

    Michailidou, Kyriaki; Lindström, Sara; Dennis, Joe; Beesley, Jonathan; Hui, Shirley; Kar, Siddhartha; Lemaçon, Audrey; Soucy, Penny; Glubb, Dylan; Rostamianfar, Asha; Bolla, Manjeet K.; Wang, Qin; Tyrer, Jonathan; Dicks, Ed; Lee, Andrew; Wang, Zhaoming; Allen, Jamie; Keeman, Renske; Eilber, Ursula; French, Juliet D.; Qing Chen, Xiao; Fachal, Laura; McCue, Karen; McCart Reed, Amy E.; Ghoussaini, Maya; Carroll, Jason S.; Jiang, Xia; Finucane, Hilary; Adams, Marcia; Adank, Muriel A.; Ahsan, Habibul; Aittomäki, Kristiina; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Aronson, Kristan J.; Arun, Banu; Auer, Paul L.; Bacot, François; Barrdahl, Myrto; Baynes, Caroline; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Bernstein, Leslie; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Stig E.; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brand, Judith S.; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Brinton, Louise; Broberg, Per; Brock, Ian W.; Broeks, Annegien; Brooks-Wilson, Angela; Brucker, Sara Y.; Brüning, Thomas; Burwinkel, Barbara; Butterbach, Katja; Cai, Qiuyin; Cai, Hui; Caldés, Trinidad; Canzian, Federico; Carracedo, Angel; Carter, Brian D.; Castelao, Jose E.; Chan, Tsun L.; David Cheng, Ting-Yuan; Seng Chia, Kee; Choi, Ji-Yeob; Christiansen, Hans; Clarke, Christine L.; Collée, Margriet; Conroy, Don M.; Cordina-Duverger, Emilie; Cornelissen, Sten; Cox, David G.; Cox, Angela; Cross, Simon S.; Cunningham, Julie M.; Czene, Kamila; Daly, Mary B.; Devilee, Peter; Doheny, Kimberly F.; Dörk, Thilo; Dos-Santos-Silva, Isabel; Dumont, Martine; Durcan, Lorraine; Dwek, Miriam; Eccles, Diana M.; Ekici, Arif B.; Eliassen, A. Heather; Ellberg, Carolina; Elvira, Mingajeva; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A.; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fritschi, Lin; Gaborieau, Valerie; Gabrielson, Marike; Gago-Dominguez, Manuela; Gao, Yu-Tang; Gapstur, Susan M.; García-Sáenz, José A.; Gaudet, Mia M.; Georgoulias, Vassilios; Giles, Graham G.; Glendon, Gord; Goldberg, Mark S.; Goldgar, David E.; González-Neira, Anna; Grenaker Alnæs, Grethe I.; Grip, Mervi; Gronwald, Jacek; Grundy, Anne; Guénel, Pascal; Haeberle, Lothar; Hahnen, Eric; Haiman, Christopher A.; Håkansson, Niclas; Hamann, Ute; Hamel, Nathalie; Hankinson, Susan; Harrington, Patricia; Hart, Steven N.; Hartikainen, Jaana M.; Hartman, Mikael; Hein, Alexander; Heyworth, Jane; Hicks, Belynda; Hillemanns, Peter; Ho, Dona N.; Hollestelle, Antoinette; Hooning, Maartje J.; Hoover, Robert N.; Hopper, John L.; Hou, Ming-Feng; Hsiung, Chia-Ni; Huang, Guanmengqian; Humphreys, Keith; Ishiguro, Junko; Ito, Hidemi; Iwasaki, Motoki; Iwata, Hiroji; Jakubowska, Anna; Janni, Wolfgang; John, Esther M.; Johnson, Nichola; Jones, Kristine; Jones, Michael; Jukkola-Vuorinen, Arja; Kaaks, Rudolf; Kabisch, Maria; Kaczmarek, Katarzyna; Kang, Daehee; Kasuga, Yoshio; Kerin, Michael J.; Khan, Sofia; Khusnutdinova, Elza; Kiiski, Johanna I.; Kim, Sung-Won; Knight, Julia A.; Kosma, Veli-Matti; Kristensen, Vessela N.; Krüger, Ute; Kwong, Ava; Lambrechts, Diether; Le Marchand, Loic; Lee, Eunjung; Lee, Min Hyuk; Lee, Jong Won; Neng Lee, Chuen; Lejbkowicz, Flavio; Li, Jingmei; Lilyquist, Jenna; Lindblom, Annika; Lissowska, Jolanta; Lo, Wing-Yee; Loibl, Sibylle; Long, Jirong; Lophatananon, Artitaya; Lubinski, Jan; Luccarini, Craig; Lux, Michael P.; Ma, Edmond S. K.; MacInnis, Robert J.; Maishman, Tom; Makalic, Enes; Malone, Kathleen E.; Kostovska, Ivana Maleva; Mannermaa, Arto; Manoukian, Siranoush; Manson, JoAnn E.; Margolin, Sara; Mariapun, Shivaani; Martinez, Maria Elena; Matsuo, Keitaro; Mavroudis, Dimitrios; McKay, James; McLean, Catriona; Meijers-Heijboer, Hanne; Meindl, Alfons; Menéndez, Primitiva; Menon, Usha; Meyer, Jeffery; Miao, Hui; Miller, Nicola; Taib, Nur Aishah Mohd; Muir, Kenneth; Mulligan, Anna Marie; Mulot, Claire; Neuhausen, Susan L.; Nevanlinna, Heli; Neven, Patrick; Nielsen, Sune F.; Noh, Dong-Young; Nordestgaard, Børge G.; Norman, Aaron; Olopade, Olufunmilayo I.; Olson, Janet E.; Olsson, Håkan; Olswold, Curtis; Orr, Nick; Pankratz, V. Shane; Park, Sue K.; Park-Simon, Tjoung-Won; Lloyd, Rachel; Perez, Jose I. A.; Peterlongo, Paolo; Peto, Julian; Phillips, Kelly-Anne; Pinchev, Mila; Plaseska-Karanfilska, Dijana; Prentice, Ross; Presneau, Nadege; Prokofyeva, Darya; Pugh, Elizabeth; Pylkäs, Katri; Rack, Brigitte; Radice, Paolo; Rahman, Nazneen; Rennert, Gadi; Rennert, Hedy S.; Rhenius, Valerie; Romero, Atocha; Romm, Jane; Ruddy, Kathryn J.; Rüdiger, Thomas; Rudolph, Anja; Ruebner, Matthias; Rutgers, Emiel J. T.; Saloustros, Emmanouil; Sandler, Dale P.; Sangrajrang, Suleeporn; Sawyer, Elinor J.; Schmidt, Daniel F.; Schmutzler, Rita K.; Schneeweiss, Andreas; Schoemaker, Minouk J.; Schumacher, Fredrick; Schürmann, Peter; Scott, Rodney J.; Scott, Christopher; Seal, Sheila; Seynaeve, Caroline; Shah, Mitul; Sharma, Priyanka; Shen, Chen-Yang; Sheng, Grace; Sherman, Mark E.; Shrubsole, Martha J.; Shu, Xiao-Ou; Smeets, Ann; Sohn, Christof; Southey, Melissa C.; Spinelli, John J.; Stegmaier, Christa; Stewart-Brown, Sarah; Stone, Jennifer; Stram, Daniel O.; Surowy, Harald; Swerdlow, Anthony; Tamimi, Rulla; Taylor, Jack A.; Tengström, Maria; teo, Soo H.; Beth Terry, Mary; Tessier, Daniel C.; Thanasitthichai, Somchai; Thöne, Kathrin; Tollenaar, Rob A. E. M.; Tomlinson, Ian; Tong, Ling; Torres, Diana; Truong, Thérèse; Tseng, Chiu-Chen; Tsugane, Shoichiro; Ulmer, Hans-Ulrich; Ursin, Giske; Untch, Michael; Vachon, Celine; van Asperen, Christi J.; van den Berg, David; van den Ouweland, Ans M. W.; van der Kolk, Lizet; van der Luijt, Rob B.; Vincent, Daniel; Vollenweider, Jason; Waisfisz, Quinten; Wang-Gohrke, Shan; Weinberg, Clarice R.; Wendt, Camilla; Whittemore, Alice S.; Wildiers, Hans; Willett, Walter; Winqvist, Robert; Wolk, Alicja; Wu, Anna H.; Xia, Lucy; Yamaji, Taiki; Yang, Xiaohong R.; Har Yip, Cheng; Yoo, Keun-Young; Yu, Jyh-Cherng; Zheng, Wei; Zheng, Ying; Zhu, Bin; Ziogas, Argyrios; Ziv, Elad; Lakhani, Sunil R.; Antoniou, Antonis C.; Droit, Arnaud; Andrulis, Irene L.; Amos, Christopher I.; Couch, Fergus J.; Pharoah, Paul D. P.; Chang-Claude, Jenny; Hall, Per; Hunter, David J.; Milne, Roger L.; García-Closas, Montserrat; Schmidt, Marjanka K.; Chanock, Stephen J.; Dunning, Alison M.; Edwards, Stacey L.; Bader, Gary D.; Chenevix-Trench, Georgia; Simard, Jacques; Kraft, Peter; Easton, Douglas F.

    2017-01-01

    Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast

  20. Association of tuberculosis and diabetes Mellitus: an analysis of ...

    African Journals Online (AJOL)

    Introduction: the association of Tuberculosis and Diabetes Mellitus is a cause of concern for the health sector. The coexistence of these two highly prevalent diseases has made the already existing treatments very complex. This issue is of particular significance to developing countries like India that bear a significant burden ...

  1. French experience in seismic risk analysis and associated research works

    International Nuclear Information System (INIS)

    Mohammadioun, B.

    1984-11-01

    This communication reviews the basic principles of the seismic risk analysis for nuclear installations in France practiced by the IPSN of the CEA. The presentation of each stage of the analysis includes an account of the methods used, the difficulties met, and a comparison with the recommendations of the AIEA-SG-S1. First, this paper deals with the sismotectonic analysis and with the definition of two reference earthquakes. Then, the calculation of the ground motion corresponding to the reference earthquakes is presented. A particular attention is paid to the problems of calculation of ground motion in the case of important earthquakes near active faults and to the effect of the soil on these movements. Finally, some criticisms, a description of studies undertaken at the moment and some recommendations are presented [fr

  2. Pathway Analysis of Metabolic Syndrome Using a Genome-Wide Association Study of Korea Associated Resource (KARE Cohorts

    Directory of Open Access Journals (Sweden)

    Unjin Shim

    2014-12-01

    Full Text Available Metabolic syndrome (MetS is a complex disorder related to insulin resistance, obesity, and inflammation. Genetic and environmental factors also contribute to the development of MetS, and through genome-wide association studies (GWASs, important susceptibility loci have been identified. However, GWASs focus more on individual single-nucleotide polymorphisms (SNPs, explaining only a small portion of genetic heritability. To overcome this limitation, pathway analyses are being applied to GWAS datasets. The aim of this study is to elucidate the biological pathways involved in the pathogenesis of MetS through pathway analysis. Cohort data from the Korea Associated Resource (KARE was used for analysis, which include 8,842 individuals (age, 52.2 ± 8.9 years; body mass index, 24.6 ± 3.2 kg/m2. A total of 312,121 autosomal SNPs were obtained after quality control. Pathway analysis was conducted using Meta-analysis Gene-Set Enrichment of Variant Associations (MAGENTA to discover the biological pathways associated with MetS. In the discovery phase, SNPs from chromosome 12, including rs11066280, rs2074356, and rs12229654, were associated with MetS (p < 5 × 10-6, and rs11066280 satisfied the Bonferroni-corrected cutoff (unadjusted p < 1.38 × 10-7, Bonferroni-adjusted p < 0.05. Through pathway analysis, biological pathways, including electron carrier activity, signaling by platelet-derived growth factor (PDGF, the mitogen-activated protein kinase kinase kinase cascade, PDGF binding, peroxisome proliferator-activated receptor (PPAR signaling, and DNA repair, were associated with MetS. Through pathway analysis of MetS, pathways related with PDGF, mitogen-activated protein kinase, and PPAR signaling, as well as nucleic acid binding, protein secretion, and DNA repair, were identified. Further studies will be needed to clarify the genetic pathogenesis leading to MetS.

  3. Socio-Economic Analysis of Factors Associated with Child Labour ...

    African Journals Online (AJOL)

    This study focused on the socio-economic analysis of the incidence of child labour use among cassava farmers in Imo State of Nigeria. It is designed to empirically provide evidence-based knowledge to inform and influence policies in the direction of the use of child labour in cassava production. Multistage random sampling ...

  4. Retrospective clinical analysis of adverse drug reactions associated ...

    African Journals Online (AJOL)

    Rentia van Graan

    This retrospective analysis can serve as a platform for future ADR studies within this district. Sustainable and continuous efforts should be made to train and create more awareness among healthcare workers in this district. Keywords: antiretroviral therapy, adverse drug reactions, drug safety, pharmacovigilance, gender ...

  5. Analysis of Historical Rainfall Data and Associated Risks on Rain ...

    African Journals Online (AJOL)

    distribution over the last six decades and tries to do a number of weather induced risk analysis in relation to different rainfall events that has special importance to the local farmers. Different type of rainfall events over the past six decades was assessed in relation to Ethiopian rain fed” tef” production. Tef is an important ...

  6. Association analysis identifies 65 new breast cancer risk loci

    DEFF Research Database (Denmark)

    Michailidou, Kyriaki; Lindström, Sara; Dennis, Joe

    2017-01-01

    cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry. We identified 65 new loci that are associated with overall breast cancer risk at P risk single-nucleotide polymorphisms in these loci fall......Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast......-nucleotide polymorphisms in regulatory features was 2-5-fold enriched relative to the genome-wide average, with strong enrichment for particular transcription factor binding sites. These results provide further insight into genetic susceptibility to breast cancer and will improve the use of genetic risk scores...

  7. Congenital malformations in neonates: analysis of morbidity and associated factors

    OpenAIRE

    Rosana Alves de Melo; Flávia Emília Cavalcante Valença Fernandes; Ana Kariny Costa Araújo; Nadja Maria dos Santos; Maria Elda Alves de Lacerda Campos; Priscylla Helena Alencar Falcão Sobral; Vitória de Barros Siqueira; Roseane da Silva Lemos; Saulo Bezerra Xavier; Alana Mirelle Coelho Leite; Rachel Mola; Luciana Pessoa Maciel; Roberto Luis Pereira dos Santos; Lusineide Carmo Andrade de Lacerda; Gerlene Grudka Lira

    2017-01-01

    Objective: To evaluate the neonatal morbidity due to congenital malformations in the city of Petrolina-PE, from 2008 to 2013. Methods: A descriptive study with data from the Information System on Live Births (Sinasc). The analyzes were carried out through frequency distribution and measures of central tendency and dispersion. The associations were tested by the Pearson and Kruskal Wallis chi-square tests. Significance was set at 5% and 95% confidence. Results: 436 cases of congenita...

  8. Optophysiological analysis of associational circuits in the olfactory cortex

    Directory of Open Access Journals (Sweden)

    Akari eHagiwara

    2012-04-01

    Full Text Available Primary olfactory cortical areas receive direct input from the olfactory bulb, but also have extensive associational connections that have been mainly studied with classical anatomical methods. Here, we shed light on the functional properties of associational connections in the anterior and posterior piriform cortex (aPC and pPC using optophysiological methods. We found that the aPC receives dense functional connections from the anterior olfactory nucleus (AON, a major hub in olfactory cortical circuits. The local recurrent connectivity within the aPC, long invoked in cortical autoassociative models, is sparse and weak. By contrast, the pPC receives negligible input from the AON, but has dense connections from the aPC as well as more local recurrent connections than the aPC. Finally, there are negligible functional connections from the pPC to aPC. Our study provides a circuit basis for a more sensory role for the aPC in odor processing and an associative role for the pPC.

  9. Strain-based HLA association analysis identified HLA-DRB1*09:01 associated with modern strain tuberculosis.

    Science.gov (United States)

    Toyo-Oka, L; Mahasirimongkol, S; Yanai, H; Mushiroda, T; Wattanapokayakit, S; Wichukchinda, N; Yamada, N; Smittipat, N; Juthayothin, T; Palittapongarnpim, P; Nedsuwan, S; Kantipong, P; Takahashi, A; Kubo, M; Sawanpanyalert, P; Tokunaga, K

    2017-09-01

    Tuberculosis (TB) occurs as a result of complex interactions between the host immune system and pathogen virulence factors. Human leukocyte antigen (HLA) class II molecules play an important role in the host immune system. However, no study has assessed the association between HLA class II genes and susceptibility to TB caused by specific strains. This study investigated the possible association of HLA class II genes with TB caused by modern and ancient Mycobacterium tuberculosis (MTB). The study included 682 patients with TB and 836 control subjects who were typed for HLA-DRB1 and HLA-DQB1 alleles. MTB strains were classified using a large sequence polymorphism typing method. Association analysis was performed using common HLA alleles and haplotypes in different MTB strains. HLA association analysis of patients infected with modern MTB strains showed significant association for HLA-DRB1*09:01 (odds ratio [OR] = 1.82; P-value = 9.88 × 10 -4 ) and HLA-DQB1*03:03 alleles (OR = 1.76; P-value = 1.31 × 10 -3 ) with susceptibility to TB. Haplotype analysis confirmed that these alleles were in strong linkage disequilibrium and did not exert an interactive effect. Thus, the results of this study showed an association between HLA class II genes and susceptibility to TB caused by modern MTB strains, suggesting the importance of strain-specific analysis to determine susceptibility genes associated with TB. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

    NARCIS (Netherlands)

    Schunkert, Heribert; König, Inke R.; Kathiresan, Sekar; Reilly, Muredach P.; Assimes, Themistocles L.; Holm, Hilma; Preuss, Michael; Stewart, Alexandre F. R.; Barbalic, Maja; Gieger, Christian; Absher, Devin; Aherrahrou, Zouhair; Allayee, Hooman; Altshuler, David; Anand, Sonia S.; Andersen, Karl; Anderson, Jeffrey L.; Ardissino, Diego; Ball, Stephen G.; Balmforth, Anthony J.; Barnes, Timothy A.; Becker, Diane M.; Becker, Lewis C.; Berger, Klaus; Bis, Joshua C.; Boekholdt, S. Matthijs; Boerwinkle, Eric; Braund, Peter S.; Brown, Morris J.; Burnett, Mary Susan; Buysschaert, Ian; Carlquist, John F.; Chen, Li; Cichon, Sven; Codd, Veryan; Davies, Robert W.; Dedoussis, George; Dehghan, Abbas; Demissie, Serkalem; Devaney, Joseph M.; Diemert, Patrick; Do, Ron; Doering, Angela; Eifert, Sandra; Mokhtari, Nour Eddine El; Ellis, Stephen G.; Elosua, Roberto; Engert, James C.; Epstein, Stephen E.; de Faire, Ulf; Fischer, Marcus; Folsom, Aaron R.; Freyer, Jennifer; Gigante, Bruna; Girelli, Domenico; Gretarsdottir, Solveig; Gudnason, Vilmundur; Gulcher, Jeffrey R.; Halperin, Eran; Hammond, Naomi; Hazen, Stanley L.; Hofman, Albert; Horne, Benjamin D.; Illig, Thomas; Iribarren, Carlos; Jones, Gregory T.; Jukema, J. Wouter; Kaiser, Michael A.; Kaplan, Lee M.; Kastelein, John J. P.; Khaw, Kay-Tee; Knowles, Joshua W.; Kolovou, Genovefa; Kong, Augustine; Laaksonen, Reijo; Lambrechts, Diether; Leander, Karin; Lettre, Guillaume; Li, Mingyao; Lieb, Wolfgang; Loley, Christina; Lotery, Andrew J.; Mannucci, Pier M.; Maouche, Seraya; Martinelli, Nicola; McKeown, Pascal P.; Meisinger, Christa; Meitinger, Thomas; Melander, Olle; Merlini, Pier Angelica; Mooser, Vincent; Morgan, Thomas; Mühleisen, Thomas W.; Muhlestein, Joseph B.; Münzel, Thomas; Musunuru, Kiran; Nahrstaedt, Janja; Nelson, Christopher P.; Nöthen, Markus M.; Olivieri, Oliviero; Patel, Riyaz S.; Patterson, Chris C.; Peters, Annette; Peyvandi, Flora; Qu, Liming; Quyyumi, Arshed A.; Rader, Daniel J.; Rallidis, Loukianos S.; Rice, Catherine; Rosendaal, Frits R.; Rubin, Diana; Salomaa, Veikko; Sampietro, M. Lourdes; Sandhu, Manj S.; Schadt, Eric; Schäfer, Arne; Schillert, Arne; Schreiber, Stefan; Schrezenmeir, Jürgen; Schwartz, Stephen M.; Siscovick, David S.; Sivananthan, Mohan; Sivapalaratnam, Suthesh; Smith, Albert; Smith, Tamara B.; Snoep, Jaapjan D.; Soranzo, Nicole; Spertus, John A.; Stark, Klaus; Stirrups, Kathy; Stoll, Monika; Tang, W. H. Wilson; Tennstedt, Stephanie; Thorgeirsson, Gudmundur; Thorleifsson, Gudmar; Tomaszewski, Maciej; Uitterlinden, Andre G.; van Rij, Andre M.; Voight, Benjamin F.; Wareham, Nick J.; Wells, George A.; Wichmann, H.-Erich; Wild, Philipp S.; Willenborg, Christina; Witteman, Jaqueline C. M.; Wright, Benjamin J.; Ye, Shu; Zeller, Tanja; Ziegler, Andreas; Cambien, Francois; Goodall, Alison H.; Cupples, L. Adrienne; Quertermous, Thomas; März, Winfried; Hengstenberg, Christian; Blankenberg, Stefan; Ouwehand, Willem H.; Hall, Alistair S.; Deloukas, Panos; Thompson, John R.; Stefansson, Kari; Roberts, Robert; Thorsteinsdottir, Unnur; O'Donnell, Christopher J.; McPherson, Ruth; Erdmann, Jeanette; Samani, Nilesh J.

    2011-01-01

    We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis identified 13

  11. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

    NARCIS (Netherlands)

    H. Schunkert (Heribert); I.R. König (Inke); S. Kathiresan (Sekar); M.P. Reilly (Muredach); T.L. Assimes (Themistocles); H. Holm (Hilma); M. Preuss (Michael); A.F.R. Stewart (Alexandre); M. Barbalic (maja); C. Gieger (Christian); D. Absher (Devin); Z. Aherrahrou (Zouhair); H. Allayee (Hooman); D. Altshuler (David); S.S. Anand (Sonia); K.K. Andersen (Karl); J.L. Anderson (Jeffrey); D. Ardissino (Diego); S.G. Ball (Stephen); A.J. Balmforth (Anthony); T.A. Barnes (Timothy); D.M. Becker (Diane); K. Berger (Klaus); J.C. Bis (Joshua); S.M. Boekholdt (Matthijs); E.A. Boerwinkle (Eric); P.S. Braund (Peter); M.J. Brown (Morris); M.S. Burnett; I. Buysschaert (Ian); J.F. Carlquist (John); L. Chen (Li); S. Cichon (Sven); V. Codd (Veryan); R.W. Davies (Robert); G.V. Dedoussis (George); A. Dehghan (Abbas); S. Demissie (Serkalem); J. Devaney (Joseph); P. Diemert (Patrick); R. Do (Ron); A. Doering (Angela); S. Eifert (Sandra); N.E.E. Mokhtari; S.G. Ellis (Stephen); R. Elosua (Roberto); J.C. Engert (James); S.E. Epstein (Stephen); U. de Faire (Ulf); M. Fischer (Marcus); A.R. Folsom (Aaron); J. Freyer (Jennifer); B. Gigante (Bruna); D. Girelli (Domenico); S. Gretarsdottir (Solveig); V. Gudnason (Vilmundur); J.R. Gulcher (Jeffrey); E. Halperin (Eran); N. Hammond (Naomi); S.L. Hazen (Stanley); A. Hofman (Albert); B.D. Horne (Benjamin); T. Illig (Thomas); C. Iribarren (Carlos); G.T. Jones (Gregory); J.W. Jukema (Jan Wouter); M.A. Kaiser (Michael); R.C. Kaplan (Robert); K-T. Khaw (Kay-Tee); J.W. Knowles (Joshua); G. Kolovou (Genovefa); A. Kong (Augustine); R. Laaksonen (Reijo); D. Lambrechts (Diether); K. Leander (Karin); G. Lettre (Guillaume); X. Li (Xiaohui); W. Lieb (Wolfgang); C. Loley (Christina); A.J. Lotery (Andrew); P.M. Mannucci (Pier); S. Maouche (Seraya); N. Martinelli (Nicola); P.P. McKeown (Pascal); C. Meisinger (Christa); T. Meitinger (Thomas); O. Melander (Olle); P.A. Merlini; V. Mooser (Vincent); T. Morgan (Thomas); T.W. Mühleisen (Thomas); J.B. Muhlestein (Joseph); T. Münzel (Thomas); K. Musunuru (Kiran); J. Nahrstaedt (Janja); C.P. Nelson (Christopher P.); M.M. Nöthen (Markus); O. Olivieri (Oliviero); R.S. Patel (Riyaz); C.C. Patterson (Chris); A. Peters (Annette); F. Peyvandi (Flora); L. Qu (Liming); A.A. Quyyumi (Arshed); D.J. Rader (Daniel); L.S. Rallidis (Loukianos); C. Rice (Catherine); F.R. Rosendaal (Frits); D. Rubin (Diana); V. Salomaa (Veikko); M.L. Sampietro (Maria Lourdes); M.S. Sandhu (Manj); E.E. Schadt (Eric); A. Scḧsignfer (Arne); A. Schillert (Arne); S. Schreiber (Stefan); J. Schrezenmeir (Jürgen); S.M. Schwartz (Stephen); D.S. Siscovick (David); M. Sivananthan (Mohan); S. Sivapalaratnam (Suthesh); A.V. Smith (Albert Vernon); J.D. Snoep (Jaapjan); N. Soranzo (Nicole); J.A. Spertus (John); K. Stark (Klaus); K. Stirrups (Kathy); M. Stoll (Monika); W.H.W. Tang (Wilson); S. Tennstedt (Stephanie); G. Thorgeirsson (Gudmundur); G. Thorleifsson (Gudmar); M. Tomaszewski (Maciej); A.G. Uitterlinden (André); A.M. van Rij (Andre); B.F. Voight (Benjamin); N.J. Wareham (Nick); G.A. Wells (George); H.E. Wichmann (Heinz Erich); P.S. Wild (Philipp); C. Willenborg (Christina); J.C.M. Witteman (Jacqueline); B.J. Wright (Benjamin); S. Ye (Shu); T. Zeller (Tanja); A. Ziegler (Andreas); F. Cambien (François); A.H. Goodall (Alison); L.A. Cupples (Adrienne); T. Quertermous (Thomas); W. Mäsignrz (Winfried); C. Hengstenberg (Christian); S. Blankenberg (Stefan); W.H. Ouwehand (Willem); A.S. Hall (Alistair); J.J.P. Kastelein (John); P. Deloukas (Panagiotis); J.R. Thompson (John); K. Stefansson (Kari); R. Roberts (Robert); U. Thorsteinsdottir (Unnur); C.J. O'Donnell (Christopher); R. McPherson (Ruth); J. Erdmann (Jeanette); N.J. Samani (Nilesh)

    2011-01-01

    textabstractWe performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis

  12. Analysis models for variables associated with breastfeeding duration

    Directory of Open Access Journals (Sweden)

    Edson Theodoro dos S. Neto

    2013-09-01

    Full Text Available OBJECTIVE To analyze the factors associated with breastfeeding duration by two statistical models. METHODS A population-based cohort study was conducted with 86 mothers and newborns from two areas primary covered by the National Health System, with high rates of infant mortality in Vitória, Espírito Santo, Brazil. During 30 months, 67 (78% children and mothers were visited seven times at home by trained interviewers, who filled out survey forms. Data on food and sucking habits, socioeconomic and maternal characteristics were collected. Variables were analyzed by Cox regression models, considering duration of breastfeeding as the dependent variable, and logistic regression (dependent variables, was the presence of a breastfeeding child in different post-natal ages. RESULTS In the logistic regression model, the pacifier sucking (adjusted Odds Ratio: 3.4; 95%CI 1.2-9.55 and bottle feeding (adjusted Odds Ratio: 4.4; 95%CI 1.6-12.1 increased the chance of weaning a child before one year of age. Variables associated to breastfeeding duration in the Cox regression model were: pacifier sucking (adjusted Hazard Ratio 2.0; 95%CI 1.2-3.3 and bottle feeding (adjusted Hazard Ratio 2.0; 95%CI 1.2-3.5. However, protective factors (maternal age and family income differed between both models. CONCLUSIONS Risk and protective factors associated with cessation of breastfeeding may be analyzed by different models of statistical regression. Cox Regression Models are adequate to analyze such factors in longitudinal studies.

  13. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

    NARCIS (Netherlands)

    Lanktree, Matthew B.; Guo, Yiran; Murtaza, Muhammed; Glessner, Joseph T.; Bailey, Swneke D.; Onland-Moret, N. Charlotte; Lettre, Guillaume; Ongen, Halit; Rajagopalan, Ramakrishnan; Johnson, Toby; Shen, Haiqing; Nelson, Christopher P.; Klopp, Norman; Baumert, Jens; Padmanabhan, Sandosh; Pankratz, Nathan; Pankow, James S.; Shah, Sonia; Taylor, Kira; Barnard, John; Peters, Bas J.; Maloney, Cliona M.; Lobmeyer, Maximilian T.; Stanton, Alice; Zafarmand, M. Hadi; Romaine, Simon P. R.; Mehta, Amar; van Iperen, Erik P. A.; Gong, Yan; Price, Tom S.; Smith, Erin N.; Kim, Cecilia E.; Li, Yun R.; Asselbergs, Folkert W.; Atwood, Larry D.; Bailey, Kristian M.; Bhatt, Deepak; Bauer, Florianne; Behr, Elijah R.; Bhangale, Tushar; Boer, Jolanda M. A.; Boehm, Bernhard O.; Bradfield, Jonathan P.; Brown, Morris; Braund, Peter S.; Burton, Paul R.; Carty, Cara; Chandrupatla, Hareesh R.; Chen, Wei; Connell, John; Dalgeorgou, Chrysoula; de Boer, Anthonius; Drenos, Fotios; Elbers, Clara C.; Fang, James C.; Fox, Caroline S.; Frackelton, Edward C.; Fuchs, Barry; Furlong, Clement E.; Gibson, Quince; Gieger, Christian; Goel, Anuj; Grobbee, Diederik E.; Hastie, Claire; Howard, Philip J.; Huang, Guan-Hua; Johnson, W. Craig; Li, Qing; Kleber, Marcus E.; Klein, Barbara E. K.; Klein, Ronald; Kooperberg, Charles; Ky, Bonnie; LaCroix, Andrea; Lanken, Paul; Lathrop, Mark; Li, Mingyao; Marshall, Vanessa; Melander, Olle; Mentch, Frank D.; Meyer, Nuala J.; Monda, Keri L.; Montpetit, Alexandre; Murugesan, Gurunathan; Nakayama, Karen; Nondahl, Dave; Onipinla, Abiodun; Rafelt, Suzanne; Newhouse, Stephen J.; Otieno, F. George; Patel, Sanjey R.; Putt, Mary E.; Rodriguez, Santiago; Safa, Radwan N.; Sawyer, Douglas B.; Schreiner, Pamela J.; Simpson, Claire; Sivapalaratnam, Suthesh; Srinivasan, Sathanur R.; Suver, Christine; Swergold, Gary; Sweitzer, Nancy K.; Thomas, Kelly A.; Thorand, Barbara; Timpson, Nicholas J.; Tischfield, Sam; Tobin, Martin; Tomaszewski, Maciej; Tomaszweski, Maciej; Verschuren, W. M. Monique; Wallace, Chris; Winkelmann, Bernhard; Zhang, Haitao; Zheng, Dongling; Zhang, Li; Zmuda, Joseph M.; Clarke, Robert; Balmforth, Anthony J.; Danesh, John; Day, Ian N.; Schork, Nicholas J.; de Bakker, Paul I. W.; Delles, Christian; Duggan, David; Hingorani, Aroon D.; Hirschhorn, Joel N.; Hofker, Marten H.; Humphries, Steve E.; Kivimaki, Mika; Lawlor, Debbie A.; Kottke-Marchant, Kandice; Mega, Jessica L.; Mitchell, Braxton D.; Morrow, David A.; Palmen, Jutta; Redline, Susan; Shields, Denis C.; Shuldiner, Alan R.; Sleiman, Patrick M.; Smith, George Davey; Farrall, Martin; Jamshidi, Yalda; Christiani, David C.; Casas, Juan P.; Hall, Alistair S.; Doevendans, Pieter A.; Christie, Jason D.; Berenson, Gerald S.; Murray, Sarah S.; Illig, Thomas; Dorn, Gerald W.; Cappola, Thomas P.; Boerwinkle, Eric; Sever, Peter; Rader, Daniel J.; Reilly, Muredach P.; Caulfield, Mark; Talmud, Philippa J.; Topol, Eric; Engert, James C.; Wang, Kai; Dominiczak, Anna; Hamsten, Anders; Curtis, Sean P.; Silverstein, Roy L.; Lange, Leslie A.; Sabatine, Marc S.; Trip, Mieke; Saleheen, Danish; Peden, John F.; Cruickshanks, Karen J.; März, Winfried; O'Connell, Jeffrey R.; Klungel, Olaf H.; Wijmenga, Cisca; Maitland-van der Zee, Anke Hilse; Schadt, Eric E.; Johnson, Julie A.; Jarvik, Gail P.; Papanicolaou, George J.; Grant, Struan F. A.; Munroe, Patricia B.; North, Kari E.; Samani, Nilesh J.; Koenig, Wolfgang; Gaunt, Tom R.; Anand, Sonia S.; van der Schouw, Yvonne T.; Soranzo, Nicole; FitzGerald, Garret A.; Reiner, Alex; Hegele, Robert A.; Hakonarson, Hakon; Keating, Brendan J.

    2011-01-01

    Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 SNPs across approximately 2000 loci, we evaluated the association of common and

  14. New association schemes for mono-ethylene glycol: Cubic-Plus-Association parameterization and uncertainty analysis

    DEFF Research Database (Denmark)

    Kruger, Francois; Kontogeorgis, Georgios M.; von Solms, Nicolas

    2018-01-01

    Accurate thermodynamic predictions for systems containing glycols are essential for the design and commissioning of novel subsea natural gas dehydration units. Previously it has been shown that the Cubic-Plus-Association (CPA) equation of state can be used to model VLE, SLE and LLE for mixtures...

  15. Genetic analysis of a Drosophila microtubule-associated protein

    OpenAIRE

    1992-01-01

    The 205-kD microtubule-associated protein (205K MAP) is one of the principal MAPs in Drosophila. 205K MAP is similar to the HeLa 210K/MAP4 family of MAPs since it shares the following biochemical properties: it is present in several isoforms, has a molecular mass of approximately 200 kD, and is thermostable. Furthermore, immuno-crossreactivity has been observed between mouse MAP4, HeLa 210K, and Drosophila 205K MAP. Currently, there is little information concerning the biological function of ...

  16. Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits

    DEFF Research Database (Denmark)

    Speliotes, Elizabeth K; Yerges-Armstrong, Laura M; Wu, Jun

    2011-01-01

    Nonalcoholic fatty liver disease (NAFLD) clusters in families, but the only known common genetic variants influencing risk are near PNPLA3. We sought to identify additional genetic variants influencing NAFLD using genome-wide association (GWA) analysis of computed tomography (CT) measured hepatic...

  17. Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts.

    Directory of Open Access Journals (Sweden)

    Vesna Boraska

    Full Text Available Brachial circumference (BC, also known as upper arm or mid arm circumference, can be used as an indicator of muscle mass and fat tissue, which are distributed differently in men and women. Analysis of anthropometric measures of peripheral fat distribution such as BC could help in understanding the complex pathophysiology behind overweight and obesity. The purpose of this study is to identify genetic variants associated with BC through a large-scale genome-wide association scan (GWAS meta-analysis. We used fixed-effects meta-analysis to synthesise summary results across 14 GWAS discovery and 4 replication cohorts comprising overall 22,376 individuals (12,031 women and 10,345 men of European ancestry. Individual analyses were carried out for men, women, and combined across sexes using linear regression and an additive genetic model: adjusted for age and adjusted for age and BMI. We prioritised signals for follow-up in two-stages. We did not detect any signals reaching genome-wide significance. The FTO rs9939609 SNP showed nominal evidence for association (p<0.05 in the age-adjusted strata for men and across both sexes. In this first GWAS meta-analysis for BC to date, we have not identified any genome-wide significant signals and do not observe robust association of previously established obesity loci with BC. Large-scale collaborations will be necessary to achieve higher power to detect loci underlying BC.

  18. Congenital malformations in neonates: analysis of morbidity and associated factors

    Directory of Open Access Journals (Sweden)

    Rosana Alves de Melo

    2017-06-01

    Full Text Available Objective: To evaluate the neonatal morbidity due to congenital malformations in the city of Petrolina-PE, from 2008 to 2013. Methods: A descriptive study with data from the Information System on Live Births (Sinasc. The analyzes were carried out through frequency distribution and measures of central tendency and dispersion. The associations were tested by the Pearson and Kruskal Wallis chi-square tests. Significance was set at 5% and 95% confidence. Results: 436 cases of congenital malformations were recorded in the study period, with 2011 being the highest occurrence year. The mothers of the newborns were young (25.2 years old, single, upper level of education and household. In general multiparous, with single gestation, vaginal delivery and performed up to six prenatal visits. The newborns were males, at 39 weeks or more of gestation and with normal weight (> = 2500g. The malformations of the musculoskeletal system were the most frequent followed by the genitourinary system. Congenital malformations were especially associated with neonatal characteristics such as gender and weight. In all causes the mean weight was greater than 2500g (p 0.05. Conclusion: The present study evidenced relevant aspects in the occurrence of morbidities due to congenital malformations, directing to a greater attention the occurrence of these diseases especially in relation to the newborn.

  19. Genome wide in silico SNP-tumor association analysis

    International Nuclear Information System (INIS)

    Qiu, Ping; Wang, Luquan; Kostich, Mitch; Ding, Wei; Simon, Jason S; Greene, Jonathan R

    2004-01-01

    Carcinogenesis occurs, at least in part, due to the accumulation of mutations in critical genes that control the mechanisms of cell proliferation, differentiation and death. Publicly accessible databases contain millions of expressed sequence tag (EST) and single nucleotide polymorphism (SNP) records, which have the potential to assist in the identification of SNPs overrepresented in tumor tissue. An in silico SNP-tumor association study was performed utilizing tissue library and SNP information available in NCBI's dbEST (release 092002) and dbSNP (build 106). A total of 4865 SNPs were identified which were present at higher allele frequencies in tumor compared to normal tissues. A subset of 327 (6.7%) SNPs induce amino acid changes to the protein coding sequences. This approach identified several SNPs which have been previously associated with carcinogenesis, as well as a number of SNPs that now warrant further investigation This novel in silico approach can assist in prioritization of genes and SNPs in the effort to elucidate the genetic mechanisms underlying the development of cancer

  20. Factors associated with methadone treatment duration: a Cox regression analysis.

    Directory of Open Access Journals (Sweden)

    Chao-Kuang Lin

    Full Text Available This study examined retention rates and associated predictors of methadone maintenance treatment (MMT duration among 128 newly admitted patients in Taiwan. A semi-structured questionnaire was used to obtain demographic and drug use history. Daily records of methadone taken and test results for HIV, HCV, and morphine toxicology were taken from a computerized medical registry. Cox regression analyses were performed to examine factors associated with MMT duration. MMT retention rates were 80.5%, 68.8%, 53.9%, and 41.4% for 3, 6, 12, and 18 months, respectively. Excluding 38 patients incarcerated during the study period, retention rates were 81.1%, 73.3%, 61.1%, and 48.9% for 3 months, 6 months, 12 months, and 18 months, respectively. No participant seroconverted to HIV and 1 died during the 18-months follow-up. Results showed that being female, imprisonment, a longer distance from house to clinic, having a lower methadone dose after 30 days, being HCV positive, and in the New Taipei city program predicted early patient dropout. The findings suggest favorable MMT outcomes of HIV seroincidence and mortality. Results indicate that the need to minimize travel distance and to provide programs that meet women's requirements justify expansion of MMT clinics in Taiwan.

  1. Fuzzy subtractive clustering based prediction model for brand association analysis

    Directory of Open Access Journals (Sweden)

    Widodo Imam Djati

    2018-01-01

    Full Text Available The brand is one of the crucial elements that determine the success of a product. Consumers in determining the choice of a product will always consider product attributes (such as features, shape, and color, however consumers are also considering the brand. Brand will guide someone to associate a product with specific attributes and qualities. This study was designed to identify the product attributes and predict brand performance with those attributes. A survey was run to obtain the attributes affecting the brand. Subtractive Fuzzy Clustering was used to classify and predict product brand association based aspects of the product under investigation. The result indicates that the five attributes namely shape, ease, image, quality and price can be used to classify and predict the brand. Training step gives best FSC model with radii (ra = 0.1. It develops 70 clusters/rules with MSE (Training is 9.7093e-016. By using 14 data testing, the model can predict brand very well (close to the target with MSE is 0.6005 and its’ accuracy rate is 71%.

  2. Diversity analysis of streptomycetes and associated phosphotranspherase genes in soil.

    Directory of Open Access Journals (Sweden)

    Paris Laskaris

    Full Text Available An attempt was made to verify the observation that Streptomyces griseus was prevalent in soil based on isolation work. A genus-specific PCR was developed for Streptomyces based on the housekeeping gene atpD and used to investigate species diversity within selected soils. The presence of S. griseus was investigated to determine coexistence of resistance-only streptomycin phosphotransferase (strA in the same soil as streptomycin producers. Two additional PCR-based assays were developed; one specific for strA in association with production, the other for more diverse strA and other related phosphotranferases. Both the S. griseus atpD and strA genes were below the PCR detection limit in all soils examined. A number of more diverse phosphotransferase genes were amplified, a minority of which may be associated with streptomycin production. We conclude that neither streptomycin producers nor S. griseus are prevalent in the fresh or chitin and starch-amended soils examined (less than 0.1% of soil actinobacteria. One of the soil sites had received plantomycin (active ingredient: streptomycin and diversity studies suggested that this altered the streptomycete populations present in the soil.

  3. Distributed multi-criteria model evaluation and spatial association analysis

    Science.gov (United States)

    Scherer, Laura; Pfister, Stephan

    2015-04-01

    Model performance, if evaluated, is often communicated by a single indicator and at an aggregated level; however, it does not embrace the trade-offs between different indicators and the inherent spatial heterogeneity of model efficiency. In this study, we simulated the water balance of the Mississippi watershed using the Soil and Water Assessment Tool (SWAT). The model was calibrated against monthly river discharge at 131 measurement stations. Its time series were bisected to allow for subsequent validation at the same gauges. Furthermore, the model was validated against evapotranspiration which was available as a continuous raster based on remote sensing. The model performance was evaluated for each of the 451 sub-watersheds using four different criteria: 1) Nash-Sutcliffe efficiency (NSE), 2) percent bias (PBIAS), 3) root mean square error (RMSE) normalized to standard deviation (RSR), as well as 4) a combined indicator of the squared correlation coefficient and the linear regression slope (bR2). Conditions that might lead to a poor model performance include aridity, a very flat and steep relief, snowfall and dams, as indicated by previous research. In an attempt to explain spatial differences in model efficiency, the goodness of the model was spatially compared to these four phenomena by means of a bivariate spatial association measure which combines Pearson's correlation coefficient and Moran's index for spatial autocorrelation. In order to assess the model performance of the Mississippi watershed as a whole, three different averages of the sub-watershed results were computed by 1) applying equal weights, 2) weighting by the mean observed river discharge, 3) weighting by the upstream catchment area and the square root of the time series length. Ratings of model performance differed significantly in space and according to efficiency criterion. The model performed much better in the humid Eastern region than in the arid Western region which was confirmed by the

  4. Harmonic Analysis Associated with the Generalized Weinstein Operator

    Directory of Open Access Journals (Sweden)

    Ahmed Abouelaz

    2015-11-01

    Full Text Available In this paper we consider a generalized Weinstein operator ∆d,α,n on Rd−1×]0,∞[, which generalizes the Weinstein operator ∆d,α, we define the generalized Weinstein intertwining operator Rα,n which turn out to be transmutation operator between ∆d,α,n and the Laplacian operator ∆d. We build the dual of the generalized Weinstein intertwining operatortRα,n, another hand we prove the formula related Rα,n andtRα,n . We exploit these transmutation operators to develop a new harmonic analysis corresponding to ∆d,α,n.

  5. A Systematic Analysis of Candidate Genes Associated with Nicotine Addiction.

    Science.gov (United States)

    Liu, Meng; Li, Xia; Fan, Rui; Liu, Xinhua; Wang, Ju

    2015-01-01

    Nicotine, as the major psychoactive component of tobacco, has broad physiological effects within the central nervous system, but our understanding of the molecular mechanism underlying its neuronal effects remains incomplete. In this study, we performed a systematic analysis on a set of nicotine addiction-related genes to explore their characteristics at network levels. We found that NAGenes tended to have a more moderate degree and weaker clustering coefficient and to be less central in the network compared to alcohol addiction-related genes or cancer genes. Further, clustering of these genes resulted in six clusters with themes in synaptic transmission, signal transduction, metabolic process, and apoptosis, which provided an intuitional view on the major molecular functions of the genes. Moreover, functional enrichment analysis revealed that neurodevelopment, neurotransmission activity, and metabolism related biological processes were involved in nicotine addiction. In summary, by analyzing the overall characteristics of the nicotine addiction related genes, this study provided valuable information for understanding the molecular mechanisms underlying nicotine addiction.

  6. Biomechanical analysis on fracture risk associated with bone deformity

    Science.gov (United States)

    Kamal, Nur Amalina Nadiah Mustafa; Som, Mohd Hanafi Mat; Basaruddin, Khairul Salleh; Daud, Ruslizam

    2017-09-01

    Osteogenesis Imperfecta (OI) is a disease related to bone deformity and is also known as `brittle bone' disease. Currently, medical personnel predict the bone fracture solely based on their experience. In this study, the prediction for risk of fracture was carried out by using finite element analysis on the simulated OI bone of femur. The main objective of this research was to analyze the fracture risk of OI-affected bone with respect to various loadings. A total of 12 models of OI bone were developed by applying four load cases and the angle of deformation for each of the models was calculated. The models were differentiated into four groups, namely standard, light, mild and severe. The results show that only a small amount of load is required to increase the fracture risk of the bone when the model is tested with hopping conditions. The analysis also shows that the torsional load gives a small effect to the increase of the fracture risk of the bone.

  7. Region-Based Association Analysis of Human Quantitative Traits in Related Individuals

    NARCIS (Netherlands)

    N.M. Belonogova (Nadezhda); G.R. Svishcheva (Gulnara); C.M. van Duijn (Cornelia); Y.S. Aulchenko (Yurii); T.I. Axenovich (Tatiana)

    2013-01-01

    textabstractRegional-based association analysis instead of individual testing of each SNP was introduced in genome-wide association studies to increase the power of gene mapping, especially for rare genetic variants. For regional association tests, the kernel machine-based regression approach was

  8. Effect of Geography on the Analysis of Coccidioidomycosis-Associated Deaths, United States.

    Science.gov (United States)

    Noble, Jason A; Nelson, Robert G; Fufaa, Gudeta D; Kang, Paul; Shafir, Shira Chani; Galgiani, John N

    2016-10-01

    Because coccidioidomycosis death rates vary by region, we reanalyzed coccidioidomycosis-associated mortality in the United States by race/ethnicity, then limited analysis to Arizona and California. Coccidioidomycosis-associated deaths were shown to increase among African-Americans but decrease among Native Americans and Hispanics. Separately, in a Native American cohort, diabetes co-varied with coccidioidomycosis-associated death.

  9. Bayesian analysis of factors associated with fibromyalgia syndrome subjects

    Science.gov (United States)

    Jayawardana, Veroni; Mondal, Sumona; Russek, Leslie

    2015-01-01

    Factors contributing to movement-related fear were assessed by Russek, et al. 2014 for subjects with Fibromyalgia (FM) based on the collected data by a national internet survey of community-based individuals. The study focused on the variables, Activities-Specific Balance Confidence scale (ABC), Primary Care Post-Traumatic Stress Disorder screen (PC-PTSD), Tampa Scale of Kinesiophobia (TSK), a Joint Hypermobility Syndrome screen (JHS), Vertigo Symptom Scale (VSS-SF), Obsessive-Compulsive Personality Disorder (OCPD), Pain, work status and physical activity dependent from the "Revised Fibromyalgia Impact Questionnaire" (FIQR). The study presented in this paper revisits same data with a Bayesian analysis where appropriate priors were introduced for variables selected in the Russek's paper.

  10. Qualitative analysis of the handicap associated with occupational hearing loss.

    Science.gov (United States)

    Hétu, R; Riverin, L; Lalande, N; Getty, L; St-Cyr, C

    1988-11-01

    Hearing difficulties among noise-exposed workers were investigated by means of an interview. A group of 61 workers from a metal product plant had their hearing tested; 66% had abnormal hearing according to their age. Interviews on hearing problems and on their consequences were conducted at home with the spouses. The interviews were recorded and transcribed, and then treated according to a procedure that combines phenomenological and content analysis. The results were classified into hearing disabilities, disadvantages and adjustments. Listening and communication problems result in extra efforts, anxiety and stress, changes in social activities, isolation in groups and a negative self-image. These problems also affect others, especially the spouse, who take an active part in the spontaneous adjustment to disabilities. A model of the structure of the handicap has been outlined illustrating how spontaneous adjustments can be in themselves sources of disadvantages. Implications for rehabilitation services are discussed in terms of the means to facilitate optimal adjustment to disabilities.

  11. Business travel-associated illness: a GeoSentinel analysis.

    Science.gov (United States)

    Chen, Lin H; Leder, Karin; Barbre, Kira A; Schlagenhauf, Patricia; Libman, Michael; Keystone, Jay; Mendelson, Marc; Gautret, Philippe; Schwartz, Eli; Shaw, Marc; MacDonald, Sue; McCarthy, Anne; Connor, Bradley A; Esposito, Douglas H; Hamer, Davidson; Wilson, Mary E

    2018-01-01

    Analysis of a large cohort of business travelers will help clinicians focus on frequent and serious illnesses. We aimed to describe travel-related health problems in business travelers. GeoSentinel Surveillance Network consists of 64 travel and tropical medicine clinics in 29 countries; descriptive analysis was performed on ill business travelers, defined as persons traveling for work, evaluated after international travel 1 January 1997 through 31 December 2014. Among 12 203 business travelers seen 1997-2014 (14 045 eligible diagnoses), the majority (97%) were adults aged 20-64 years; most (74%) reported from Western Europe or North America; two-thirds were male. Most (86%) were outpatients. Fewer than half (45%) reported a pre-travel healthcare encounter. Frequent regions of exposure were sub-Saharan Africa (37%), Southeast Asia (15%) and South Central Asia (14%). The most frequent diagnoses were malaria (9%), acute unspecified diarrhea (8%), viral syndrome (6%), acute bacterial diarrhea (5%) and chronic diarrhea (4%). Species was reported for 973 (90%) of 1079 patients with malaria, predominantly Plasmodium falciparum acquired in sub-Saharan Africa. Of 584 (54%) with malaria chemoprophylaxis information, 92% took none or incomplete courses. Thirteen deaths were reported, over half of which were due to malaria; others succumbed to pneumonia, typhoid fever, rabies, melioidosis and pyogenic abscess. Diarrheal illness was a major cause of morbidity. Malaria contributed substantial morbidity and mortality, particularly among business travelers to sub-Saharan Africa. Underuse or non-use of chemoprophylaxis contributed to malaria cases. Deaths in business travelers could be reduced by improving adherence to malaria chemoprophylaxis and targeted vaccination for vaccine-preventable diseases. Pre-travel advice is indicated for business travelers and is currently under-utilized and needs improvement.

  12. Cryogenic testing and analysis associated with Tevatron lower temperature operation

    International Nuclear Information System (INIS)

    Theilacker, J.C.

    1996-01-01

    An upgrade of the Tevatron cryogenic system was installed and commissioned in 1993 to allow lower temperature operation. As a result, higher energy operation of the Fermilab superconducting Tevatron accelerator is possible. Following the installation and initial commissioning, it was decided to continue the current colliding beam physics run at the previous energy of 900 GeV. This has allowed the author to perform parasitic lower temperature tests in the Tevatron over the last year and a half. This paper presents the results of operational experiences and thermal and hydraulic testing which have taken place. The primary goal of the testing is to better understand the operation of the cold compressor system, associated instrumentation, and the performance of the existing magnet system during lower temperature operation. This will lead to a tentatively scheduled higher energy test run in the fall of 1995. The test results have shown that more elaborate controlling methods are necessary in order to achieve reliable system operation. Fortunately, the new satellite refrigerator controls system is capable of the expansion necessary to reach this goal. New features are being added to the controls systems which will allow for more intelligent control and better diagnostics for component monitoring and trending

  13. Cryogenic testing and analysis associated with Tevatron lower temperature operation

    International Nuclear Information System (INIS)

    Theilacker, J.C.

    1996-09-01

    An upgrade of the Tevatron cryogenic system was installed and commissioned in 1993 to allow lower temperature operation. As a result, higher energy operation is possible. Following the installation and initial commissioning, it was decided to continue the current colliding beam physics at the previous energy of 900 GeV. This has allowed us to perform parasitic lower temperature tests in the Tevatron over the last year and a half. This paper presents the results of operational experiences and thermal and hydraulic testing which has taken place. The primary goal of the testing is to better understand the operation of the cold compressor system, associated instrumentation, and the performance of the existing magnet system during lower temperature operation. This will lead to a tentatively scheduled higher energy test run in the fall of 1995. The test results have shown that more elaborate controlling methods are necessary in order to achieve reliable system operation. Fortunately, our new satellite refrigerator controls system is capable of the expansion necessary to reach our goal. New features are being added to the control system which will allow for more intelligent control and better diagnostics for component monitoring and trending

  14. Failure analysis of collector circuits associated with wind farms

    Directory of Open Access Journals (Sweden)

    Clifton Ashley P.

    2017-01-01

    Full Text Available Wind farm collector circuits generally comprise several wind turbine generators (WTG’s. WTG’s are connected in parallel to a substation. This connection acts as the point-of-connection to the national electricity grid. The electrical load in these circuits is close to component (power cables and accessories ratings. The objective of this paper is to identify cable joint failure paths; and, develop an understanding of specific contributing factors. All findings presented were established from literature review involving data analysis and discussion with industry experts working across the wind industry. Application of forces, inadequate workmanship, incorrect thermal resistance or other contributing factors, all contribute to high conductor operating temperatures. High conductor operating temperatures highlight issues including insufficient environmental heat transfer due to the use of inadequate cable trenching materials. This in turn results in the imbalanced application of force, experienced at the cable joint, as a direct result of frequent thermal expansion and contraction. For most cable joint failures, the root cause is insulation breakdown due to sustained deterioration of the cross-linked polyethylene insulation. This is a direct result from excessive operating temperatures.

  15. Large Scale Association Analysis for Drug Addiction: Results from SNP to Gene

    Directory of Open Access Journals (Sweden)

    Xiaobo Guo

    2012-01-01

    Full Text Available Many genetic association studies used single nucleotide polymorphisms (SNPs data to identify genetic variants for complex diseases. Although SNP-based associations are most common in genome-wide association studies (GWAS, gene-based association analysis has received increasing attention in understanding genetic etiologies for complex diseases. While both methods have been used to analyze the same data, few genome-wide association studies compare the results or observe the connection between them. We performed a comprehensive analysis of the data from the Study of Addiction: Genetics and Environment (SAGE and compared the results from the SNP-based and gene-based analyses. Our results suggest that the gene-based method complements the individual SNP-based analysis, and conceptually they are closely related. In terms of gene findings, our results validate many genes that were either reported from the analysis of the same dataset or based on animal studies for substance dependence.

  16. Environmental Correlation Analysis for Genes Associated with Protection against Malaria.

    Science.gov (United States)

    Mackinnon, Margaret J; Ndila, Carolyne; Uyoga, Sophie; Macharia, Alex; Snow, Robert W; Band, Gavin; Rautanen, Anna; Rockett, Kirk A; Kwiatkowski, Dominic P; Williams, Thomas N

    2016-05-01

    Genome-wide searches for loci involved in human resistance to malaria are currently being conducted on a large scale in Africa using case-control studies. Here, we explore the utility of an alternative approach-"environmental correlation analysis, ECA," which tests for clines in allele frequencies across a gradient of an environmental selection pressure-to identify genes that have historically protected against death from malaria. We collected genotype data from 12,425 newborns on 57 candidate malaria resistance loci and 9,756 single nucleotide polymorphisms (SNPs) selected at random from across the genome, and examined their allele frequencies for geographic correlations with long-term malaria prevalence data based on 84,042 individuals living under different historical selection pressures from malaria in coastal Kenya. None of the 57 candidate SNPs showed significant (P < 0.05) correlations in allele frequency with local malaria transmission intensity after adjusting for population structure and multiple testing. In contrast, two of the random SNPs that had highly significant correlations (P < 0.01) were in genes previously linked to malaria resistance, namely, CDH13, encoding cadherin 13, and HS3ST3B1, encoding heparan sulfate 3-O-sulfotransferase 3B1. Both proteins play a role in glycoprotein-mediated cell-cell adhesion which has been widely implicated in cerebral malaria, the most life-threatening form of this disease. Other top genes, including CTNND2 which encodes δ-catenin, a molecular partner to cadherin, were significantly enriched in cadherin-mediated pathways affecting inflammation of the brain vascular endothelium. These results demonstrate the utility of ECA in the discovery of novel genes and pathways affecting infectious disease. © The Author 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  17. Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

    OpenAIRE

    Springelkamp, Henriët; Mishra, Aniket; Hysi, Pirro G.; Gharahkhani, Puya; Höhn, René; Khor, Chiea-Chuen; Cooke Bailey, Jessica N.; Luo, Xiaoyan; Ramdas, Wishal D.; Vithana, Eranga; Koh, Victor; Yazar, Seyhan; Xu, Liang; Forward, Hannah; Kearns, Lisa S.

    2015-01-01

    Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asia...

  18. Computational Prediction and Analysis of Associations between Small Molecules and Binding-Associated S-Nitrosylation Sites.

    Science.gov (United States)

    Huang, Guohua; Li, Jincheng; Zhao, Chenglin

    2018-04-19

    Interactions between drugs and proteins occupy a central position during the process of drug discovery and development. Numerous methods have recently been developed for identifying drug⁻target interactions, but few have been devoted to finding interactions between post-translationally modified proteins and drugs. We presented a machine learning-based method for identifying associations between small molecules and binding-associated S-nitrosylated (SNO-) proteins. Namely, small molecules were encoded by molecular fingerprint, SNO-proteins were encoded by the information entropy-based method, and the random forest was used to train a classifier. Ten-fold and leave-one-out cross validations achieved, respectively, 0.7235 and 0.7490 of the area under a receiver operating characteristic curve. Computational analysis of similarity suggested that SNO-proteins associated with the same drug shared statistically significant similarity, and vice versa. This method and finding are useful to identify drug⁻SNO associations and further facilitate the discovery and development of SNO-associated drugs.

  19. Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia

    NARCIS (Netherlands)

    Berndt, Sonja I; Camp, Nicola J; Skibola, Christine F; Vijai, Joseph; Wang, Zhaoming; Gu, Jian; Nieters, Alexandra; Kelly, Rachel S; Smedby, Karin E; Monnereau, Alain; Cozen, Wendy; Cox, Angela; Wang, Sophia S; Lan, Qing; Teras, Lauren R; Machado, Moara; Yeager, Meredith; Brooks-Wilson, Angela R; Hartge, Patricia; Purdue, Mark P; Birmann, Brenda M; Vajdic, Claire M; Cocco, Pierluigi; Zhang, Yawei; Giles, Graham G; Zeleniuch-Jacquotte, Anne; Lawrence, Charles; Montalvan, Rebecca; Burdett, Laurie; Hutchinson, Amy; Ye, Yuanqing; Call, Timothy G; Shanafelt, Tait D; Novak, Anne J; Kay, Neil E; Liebow, Mark; Cunningham, Julie M; Allmer, Cristine; Hjalgrim, Henrik; Adami, Hans-Olov; Melbye, Mads; Glimelius, Bengt; Chang, Ellen T; Glenn, Martha; Curtin, Karen; Cannon-Albright, Lisa A; Diver, W Ryan; Link, Brian K; Weiner, George J; Conde, Lucia; Bracci, Paige M; Riby, Jacques; Arnett, Donna K; Zhi, Degui; Leach, Justin M; Holly, Elizabeth A; Jackson, Rebecca D; Tinker, Lesley F; Benavente, Yolanda; Sala, Núria; Casabonne, Delphine; Becker, Nikolaus; Boffetta, Paolo; Brennan, Paul; Foretova, Lenka; Maynadie, Marc; McKay, James; Staines, Anthony; Chaffee, Kari G; Achenbach, Sara J; Vachon, Celine M; Goldin, Lynn R; Strom, Sara S; Leis, Jose F; Weinberg, J Brice; Caporaso, Neil E; Norman, Aaron D; De Roos, Anneclaire J; Morton, Lindsay M; Severson, Richard K; Riboli, Elio; Vineis, Paolo; Kaaks, Rudolph; Masala, Giovanna; Weiderpass, Elisabete; Chirlaque, María-Dolores; Vermeulen, Roel C H; Travis, Ruth C; Southey, Melissa C; Milne, Roger L; Albanes, Demetrius; Virtamo, Jarmo; Weinstein, Stephanie; Clavel, Jacqueline; Zheng, Tongzhang; Holford, Theodore R; Villano, Danylo J; Maria, Ann; Spinelli, John J; Gascoyne, Randy D; Connors, Joseph M; Bertrand, Kimberly A; Giovannucci, Edward; Kraft, Peter; Kricker, Anne; Turner, Jenny; Ennas, Maria Grazia; Ferri, Giovanni M; Miligi, Lucia; Liang, Liming; Ma, Baoshan; Huang, Jinyan; Crouch, Simon; Park, Ju-Hyun; Chatterjee, Nilanjan; North, Kari E; Snowden, John A; Wright, Josh; Fraumeni, Joseph F; Offit, Kenneth; Wu, Xifeng; de Sanjose, Silvia; Cerhan, James R; Chanock, Stephen J; Rothman, Nathaniel; Slager, Susan L

    2016-01-01

    Chronic lymphocytic leukemia (CLL) is a common lymphoid malignancy with strong heritability. To further understand the genetic susceptibility for CLL and identify common loci associated with risk, we conducted a meta-analysis of four genome-wide association studies (GWAS) composed of 3,100 cases and

  20. Canonical correlation analysis in education: associations between student evaluations of courses and instructors

    DEFF Research Database (Denmark)

    Sliusarenko, Tamara; Clemmensen, Line Katrine Harder

    correlation analysis (CCA) to investigate the association between how students evaluate the course and how students evaluate the teacher and to reveal the structure of this association. Student’s evaluation data is characterized by high correlation between the variables (questions) and insufficient sample...

  1. HLA associations and HLA sharing in recurrent miscarriage: A systematic review and meta-analysis

    NARCIS (Netherlands)

    Meuleman, Tess; Lashley, Lisa E. L. O.; Dekkers, Olaf M.; van Lith, Jan M. M.; Claas, Frans H. J.; Bloemenkamp, Kitty W. M.

    2015-01-01

    Problem: The aim of this meta-analysis was to evaluate whether specific maternal HLA alleles and HLA sharing of couples are associated with the occurrence of recurrent miscarriage (RM). Method of study: A systematic literature search was performed for studies that evaluated the association between

  2. HLA associations and HLA sharing in recurrent miscarriage : A systematic review and meta-analysis

    NARCIS (Netherlands)

    Meuleman, Tess; Lashley, Lisa E L O; Dekkers, Olaf M.; van Lith, Jan M M; Claas, Frans H J; Bloemenkamp, Kitty W M

    2015-01-01

    Problem: The aim of this meta-analysis was to evaluate whether specific maternal HLA alleles and HLA sharing of couples are associated with the occurrence of recurrent miscarriage (RM). Method of study: A systematic literature search was performed for studies that evaluated the association between

  3. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

    NARCIS (Netherlands)

    Voight, Benjamin F.; Scott, Laura J.; Steinthorsdottir, Valgerdur; Morris, Andrew P.; Dina, Christian; Welch, Ryan P.; Zeggini, Eleftheria; Huth, Cornelia; Aulchenko, Yurii S.; Thorleifsson, Gudmar; McCulloch, Laura J.; Ferreira, Teresa; Grallert, Harald; Amin, Najaf; Wu, Guanming; Willer, Cristen J.; Raychaudhuri, Soumya; McCarroll, Steve A.; Langenberg, Claudia; Hofmann, Oliver M.; Dupuis, Josee; Qi, Lu; Segre, Ayellet V.; van Hoek, Mandy; Navarro, Pau; Ardlie, Kristin; Balkau, Beverley; Benediktsson, Rafn; Bennett, Amanda J.; Blagieva, Roza; Boerwinkle, Eric; Bonnycastle, Lori L.; Bostrom, Kristina Bengtsson; Bravenboer, Bert; Bumpstead, Suzannah; Burtt, Noisel P.; Charpentier, Guillaume; Chines, Peter S.; Cornelis, Marilyn; Couper, David J.; Crawford, Gabe; Doney, Alex S. F.; Elliott, Katherine S.; Elliott, Amanda L.; Erdos, Michael R.; Fox, Caroline S.; Franklin, Christopher S.; Ganser, Martha; Gieger, Christian; Grarup, Niels; Green, Todd; Griffin, Simon; Groves, Christopher J.; Guiducci, Candace; Hadjadj, Samy; Hassanali, Neelam; Herder, Christian; Isomaa, Bo; Jackson, Anne U.; Johnson, Paul R. V.; Jorgensen, Torben; Kao, Wen H. L.; Klopp, Norman; Kong, Augustine; Kraft, Peter; Kuusisto, Johanna; Lauritzen, Torsten; Li, Man; Lieverse, Aloysius; Lindgren, Cecilia M.; Lyssenko, Valeriya; Marre, Michel; Meitinger, Thomas; Midthjell, Kristian; Morken, Mario A.; Narisu, Narisu; Nilsson, Peter; Owen, Katharine R.; Payne, Felicity; Perry, John R. B.; Petersen, Ann-Kristin; Platou, Carl; Proenca, Christine; Prokopenko, Inga; Rathmann, Wolfgang; Rayner, N. William; Robertson, Neil R.; Rocheleau, Ghislain; Roden, Michael; Sampson, Michael J.; Saxena, Richa; Shields, Beverley M.; Shrader, Peter; Sigurdsson, Gunnar; Sparso, Thomas; Strassburger, Klaus; Stringham, Heather M.; Sun, Qi; Swift, Amy J.; Thorand, Barbara; Tichet, Jean; Tuomi, Tiinamaija; van Dam, Rob M.; van Haeften, Timon W.; van Herpt, Thijs; van Vliet-Ostaptchouk, Jana V.; Walters, G. Bragi; Weedon, Michael N.; Wijmenga, Cisca; Witteman, Jacqueline; Bergman, Richard N.; Cauchi, Stephane; Collins, Francis S.; Gloyn, Anna L.; Gyllensten, Ulf; Hansen, Torben; Hide, Winston A.; Hitman, Graham A.; Hofman, Albert; Hunter, David J.; Hveem, Kristian; Laakso, Markku; Mohlke, Karen L.; Morris, Andrew D.; Palmer, Colin N. A.; Pramstaller, Peter P.; Rudan, Igor; Sijbrands, Eric; Stein, Lincoln D.; Tuomilehto, Jaakko; Uitterlinden, Andre; Walker, Mark; Wareham, Nicholas J.; Watanabe, Richard M.; Abecasis, Goncalo R.; Boehm, Bernhard O.; Campbell, Harry; Daly, Mark J.; Hattersley, Andrew T.; Hu, Frank B.; Meigs, James B.; Pankow, James S.; Pedersen, Oluf; Wichmann, H-Erich; Barroso, Ines; Florez, Jose C.; Frayling, Timothy M.; Groop, Leif; Sladek, Rob; Thorsteinsdottir, Unnur; Wilson, James F.; Illig, Thomas; Froguel, Philippe; van Duijn, Cornelia M.; Stefansson, Kari; Altshuler, David; Boehnke, Michael; McCarthy, Mark I.

    By combining genome-wide association data from 8,130 individuals with type 2 diabetes (T2D) and 38,987 controls of European descent and following up previously unidentified meta-analysis signals in a further 34,412 cases and 59,925 controls, we identified 12 new T2D association signals with combined

  4. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

    NARCIS (Netherlands)

    B.F. Voight (Benjamin); L.J. Scott (Laura); V. Steinthorsdottir (Valgerdur); A.D. Morris (Andrew); C. Dina (Christian); R.P. Welch (Ryan); E. Zeggini (Eleftheria); C. Huth (Cornelia); Y.S. Aulchenko (Yurii); G. Thorleifsson (Gudmar); L.J. McCulloch (Laura); T. Ferreira (Teresa); H. Grallert (Harald); N. Amin (Najaf); G. Wu (Guanming); C.J. Willer (Cristen); S. Raychaudhuri (Soumya); S.A. McCarroll (Steven); C. Langenberg (Claudia); O.M. Hofmann (Oliver); J. Dupuis (Josée); L. Qi (Lu); A.V. Segrè (Ayellet); M. van Hoek (Mandy); P. Navarro (Pau); K.G. Ardlie (Kristin); B. Balkau (Beverley); R. Benediktsson (Rafn); A.J. Bennett (Amanda); R. Blagieva (Roza); E.A. Boerwinkle (Eric); L.L. Bonnycastle (Lori); K.B. Boström (Kristina Bengtsson); B. Bravenboer (Bert); S. Bumpstead (Suzannah); N.P. Burtt (Noël); G. Charpentier (Guillaume); P.S. Chines (Peter); M. Cornelis (Marilyn); D.J. Couper (David); G. Crawford (Gabe); A.S.F. Doney (Alex); K.S. Elliott (Katherine); M.R. Erdos (Michael); C.S. Fox (Caroline); C.S. Franklin (Christopher); M. Ganser (Martha); C. Gieger (Christian); N. Grarup (Niels); T. Green (Todd); S. Griffin (Simon); C.J. Groves (Christopher); C. Guiducci (Candace); S. Hadjadj (Samy); N. Hassanali (Neelam); C. Herder (Christian); B. Isomaa (Bo); A.U. Jackson (Anne); P.R.V. Johnson (Paul); T. Jørgensen (Torben); W.H.L. Kao (Wen); N. Klopp (Norman); A. Kong (Augustine); P. Kraft (Peter); J. Kuusisto (Johanna); T. Lauritzen (Torsten); M. Li (Man); A. Lieverse (Aloysius); C.M. Lindgren (Cecilia); V. Lyssenko (Valeriya); M. Marre (Michel); T. Meitinger (Thomas); K. Midthjell (Kristian); M.A. Morken (Mario); N. Narisu (Narisu); P. Nilsson (Peter); K.R. Owen (Katharine); F. Payne (Felicity); J.R.B. Perry (John); A.K. Petersen; C. Platou (Carl); C. Proença (Christine); I. Prokopenko (Inga); W. Rathmann (Wolfgang); N.W. Rayner (Nigel William); N.R. Robertson (Neil); G. Rocheleau (Ghislain); M. Roden (Michael); M.J. Sampson (Michael); R. Saxena (Richa); B.M. Shields (Beverley); P. Shrader (Peter); G. Sigurdsson (Gunnar); T. Sparsø (Thomas); K. Strassburger (Klaus); H.M. Stringham (Heather); Q. Sun (Qi); A.J. Swift (Amy); B. Thorand (Barbara); J. Tichet (Jean); T. Tuomi (Tiinamaija); R.M. van Dam (Rob); T.W. van Haeften (Timon); T.W. van Herpt (Thijs); J.V. van Vliet-Ostaptchouk (Jana); G.B. Walters (Bragi); M.N. Weedon (Michael); C. Wijmenga (Cisca); J.C.M. Witteman (Jacqueline); R.N. Bergman (Richard); S. Cauchi (Stephane); F.S. Collins (Francis); A.L. Gloyn (Anna); U. Gyllensten (Ulf); T. Hansen (Torben); W.A. Hide (Winston); G.A. Hitman (Graham); A. Hofman (Albert); D. Hunter (David); K. Hveem (Kristian); M. Laakso (Markku); K.L. Mohlke (Karen); C.N.A. Palmer (Colin); P.P. Pramstaller (Peter Paul); I. Rudan (Igor); E.J.G. Sijbrands (Eric); L.D. Stein (Lincoln); J. Tuomilehto (Jaakko); A.G. Uitterlinden (André); M. Walker (Mark); N.J. Wareham (Nick); G.R. Abecasis (Gonçalo); B.O. Boehm (Bernhard); H. Campbell (Harry); M.J. Daly (Mark); A.T. Hattersley (Andrew); F.B. Hu (Frank); J.B. Meigs (James); J.S. Pankow (James); O. Pedersen (Oluf); H.E. Wichmann (Erich); I. Barroso (Inês); J.C. Florez (Jose); T.M. Frayling (Timothy); L. Groop (Leif); R. Sladek (Rob); U. Thorsteinsdottir (Unnur); J.F. Wilson (James); T. Illig (Thomas); P. Froguel (Philippe); P. Tikka-Kleemola (Päivi); J-A. Zwart (John-Anker); D. Altshuler (David); M. Boehnke (Michael); M.I. McCarthy (Mark); R.M. Watanabe (Richard)

    2010-01-01

    textabstractBy combining genome-wide association data from 8,130 individuals with type 2 diabetes (T2D) and 38,987 controls of European descent and following up previously unidentified meta-analysis signals in a further 34,412 cases and 59,925 controls, we identified 12 new T2D association signals

  5. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

    NARCIS (Netherlands)

    Felix, Janine F.; Bradfield, Jonathan P.; Monnereau, Claire; van der Valk, Ralf J. P.; Stergiakouli, Evie; Chesi, Alessandra; Gaillard, Romy; Feenstra, Bjarke; Thiering, Elisabeth; Kreiner-Moller, Eskil; Mahajan, Anubha; Pitkanen, Niina; Joro, Raimo; Cavadino, Alana; Huikari, Ville; Franks, Steve; Groen-Blokhuis, Maria M.; Cousminer, Diana L.; Marsh, Julie A.; Lehtimaki, Terho; Curtin, John A.; Vioque, Jesus; Ahluwalia, Tarunveer S.; Myhre, Ronny; Price, Thomas S.; Vilor-Tejedor, Natalia; Yengo, Loic; Grarup, Niels; Ntalla, Ioanna; Ang, Wei; Atalay, Mustafa; Bisgaard, Hans; Blakemore, Alexandra I.; Bonnefond, Amelie; Carstensen, Lisbeth; Eriksson, Johan; Flexeder, Claudia; Franke, Lude; Geller, Frank; Geserick, Mandy; Hartikainen, Anna-Liisa; Haworth, Claire M. A.; Hirschhorn, Joel N.; Hofman, Albert; Holm, Jens-Christian; Horikoshi, Momoko; Hottenga, Jouke Jan; Huang, Jinyan; Kadarmideen, Haja N.; Kahonen, Mika; Kiess, Wieland; Lakka, Hanna-Maaria; Lakka, Timo A.; Lewin, Alexandra M.; Liang, Liming; Lyytikainen, Leo-Pekka; Ma, Baoshan; Magnus, Per; McCormack, Shana E.; McMahon, George; Mentch, Frank D.; Middeldorp, Christel M.; Murray, Clare S.; Pahkala, Katja; Pers, Tune H.; Pfaefle, Roland; Postma, Dirkje S.; Power, Christine; Simpson, Angela; Sengpiel, Verena; Tiesler, Carla M. T.; Torrent, Maties; Uitterlinden, Andre G.; van Meurs, Joyce B.; Vinding, Rebecca; Waage, Johannes; Wardle, Jane; Zeggini, Eleftheria; Zemel, Babette S.; Dedoussis, George V.; Pedersen, Oluf; Froguel, Philippe; Sunyer, Jordi; Plomin, Robert; Jacobsson, Bo; Hansen, Torben; Gonzalez, Juan R.; Custovic, Adnan; Raitakari, Olli T.; Pennell, Craig E.; Widen, Elisabeth; Boomsma, Dorret I.; Koppelman, Gerard H.; Sebert, Sylvain; Jarvelin, Marjo-Riitta; Hypponen, Elina; McCarthy, Mark I.; Lindi, Virpi; Harri, Niinikoski; Koerner, Antje; Bonnelykke, Klaus; Heinrich, Joachim; Melbye, Mads; Rivadeneira, Fernando; Hakonarson, Hakon; Ring, Susan M.; Smith, George Davey; Sorensen, Thorkild I. A.; Timpson, Nicholas J.; Grant, Struan F. A.; Jaddoe, Vincent W. V.

    2016-01-01

    A large number of genetic loci are associated with adult body mass index. However, the genetics of childhood body mass index are largely unknown. We performed a meta-analysis of genome-wide association studies of childhood body mass index, using sex-and age-adjusted standard deviation scores. We

  6. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

    NARCIS (Netherlands)

    J.F. Felix (Janine); J.P. Bradfield (Jonathan); C. Monnereau; R.J.P. van der Valk (Ralf); E. Stergiakouli (Evie); A. Chesi (Alessandra); R. Gaillard (Romy); B. Feenstra (Bjarke); E. Thiering (Elisabeth); E. Kreiner-Møller (Eskil); A. Mahajan (Anubha); Niina Pitkänen; R. Joro (Raimo); A. Cavadino (Alana); V. Huikari (Ville); S. Franks (Steve); M. Groen-Blokhuis (Maria); D.L. Cousminer (Diana); J.A. Marsh (Julie); T. Lehtimäki (Terho); J.A. Curtin (John); J. Vioque (Jesus); T.S. Ahluwalia (Tarunveer Singh); R. Myhre (Ronny); T.S. Price (Thomas); Natalia Vilor-Tejedor; L. Yengo (Loic); N. Grarup (Niels); I. Ntalla (Ioanna); W.Q. Ang (Wei); M. Atalay (Mustafa); H. Bisgaard (Hans); A.I.F. Blakemore (Alexandra); A. Bonnefond (Amélie); L. Carstensen (Lisbeth); J.G. Eriksson (Johan G.); C. Flexeder (Claudia); L. Franke (Lude); F. Geller (Frank); M. Geserick (Mandy); A.L. Hartikainen; C.M.A. Haworth (Claire M.); J.N. Hirschhorn (Joel N.); A. Hofman (Albert); J.-C. Holm (Jens-Christian); M. Horikoshi (Momoko); J.J. Hottenga (Jouke Jan); J. Huang (Jian); H.N. Kadarmideen (Haja N.); M. Kähönen (Mika); W. Kiess (Wieland); T.A. Lakka (Timo); T.A. Lakka (Timo); A. Lewin (Alex); L. Liang (Liming); L.-P. Lyytikäinen (Leo-Pekka); B. Ma (Baoshan); P. Magnus (Per); S.E. McCormack (Shana E.); G. Mcmahon (George); F.D. Mentch (Frank); C.M. Middeldorp (Christel); C.S. Murray (Clare S.); K. Pahkala (Katja); T.H. Pers (Tune); R. Pfäffle (Roland); D.S. Postma (Dirkje); C. Power (Christine); A. Simpson (Angela); V. Sengpiel (Verena); C. Tiesler (Carla); M. Torrent (Maties); A.G. Uitterlinden (André); J.B.J. van Meurs (Joyce); R. Vinding (Rebecca); J. Waage (Johannes); J. Wardle (Jane); E. Zeggini (Eleftheria); B.S. Zemel (Babette S.); G.V. Dedoussis (George); O. Pedersen (Oluf); P. Froguel (Philippe); J. Sunyer (Jordi); R. Plomin (Robert); B. Jacobsson (Bo); T. Hansen (Torben); J.R. Gonzalez (Juan R.); A. Custovic; O.T. Raitakari (Olli T.); C.E. Pennell (Craig); Elisabeth Widén; D.I. Boomsma (Dorret); G.H. Koppelman (Gerard); S. Sebert (Sylvain); M.-R. Jarvelin (Marjo-Riitta); E. Hypponen (Elina); M.I. McCarthy (Mark); V. Lindi (Virpi); N. Harri (Niinikoski); A. Körner (Antje); K. Bønnelykke (Klaus); J. Heinrich (Joachim); M. Melbye (Mads); F. Rivadeneira Ramirez (Fernando); H. Hakonarson (Hakon); S.M. Ring (Susan); G.D. Smith; T.I.A. Sørensen (Thorkild I.A.); N.J. Timpson (Nicholas); S.F.A. Grant (Struan); V.W.V. Jaddoe (Vincent); H.J. Kalkwarf (Heidi J.); J.M. Lappe (Joan M.); V. Gilsanz (Vicente); S.E. Oberfield (Sharon E.); J.A. Shepherd (John A.); A. Kelly (Andrea)

    2016-01-01

    textabstractA large number of genetic loci are associated with adult body mass index. However, the genetics of childhood body mass index are largely unknown.We performed a meta-analysis of genome-wide association studies of childhood body mass index, using sex- and age-adjusted standard deviation

  7. An efficient Bayesian meta-analysis approach for studying cross-phenotype genetic associations.

    Science.gov (United States)

    Majumdar, Arunabha; Haldar, Tanushree; Bhattacharya, Sourabh; Witte, John S

    2018-02-01

    Simultaneous analysis of genetic associations with multiple phenotypes may reveal shared genetic susceptibility across traits (pleiotropy). For a locus exhibiting overall pleiotropy, it is important to identify which specific traits underlie this association. We propose a Bayesian meta-analysis approach (termed CPBayes) that uses summary-level data across multiple phenotypes to simultaneously measure the evidence of aggregate-level pleiotropic association and estimate an optimal subset of traits associated with the risk locus. This method uses a unified Bayesian statistical framework based on a spike and slab prior. CPBayes performs a fully Bayesian analysis by employing the Markov Chain Monte Carlo (MCMC) technique Gibbs sampling. It takes into account heterogeneity in the size and direction of the genetic effects across traits. It can be applied to both cohort data and separate studies of multiple traits having overlapping or non-overlapping subjects. Simulations show that CPBayes can produce higher accuracy in the selection of associated traits underlying a pleiotropic signal than the subset-based meta-analysis ASSET. We used CPBayes to undertake a genome-wide pleiotropic association study of 22 traits in the large Kaiser GERA cohort and detected six independent pleiotropic loci associated with at least two phenotypes. This includes a locus at chromosomal region 1q24.2 which exhibits an association simultaneously with the risk of five different diseases: Dermatophytosis, Hemorrhoids, Iron Deficiency, Osteoporosis and Peripheral Vascular Disease. We provide an R-package 'CPBayes' implementing the proposed method.

  8. Genome-Wide Association Study and Linkage Analysis of the Healthy Aging Index

    DEFF Research Database (Denmark)

    Minster, Ryan L; Sanders, Jason L; Singh, Jatinder

    2015-01-01

    BACKGROUND: The Healthy Aging Index (HAI) is a tool for measuring the extent of health and disease across multiple systems. METHODS: We conducted a genome-wide association study and a genome-wide linkage analysis to map quantitative trait loci associated with the HAI and a modified HAI weighted f...

  9. Systems Biology Analysis of Sjogren's Syndrome and Mucosa-Associated Lymphoid Tissue Lymphoma in Parotid Glands

    NARCIS (Netherlands)

    Hu, Shen; Zhou, Michael; Jiang, Jiang; Wang, Jianghua; Elashoff, David; Gorr, Sven; Michie, Sara A.; Spijkervet, Fred K. L.; Bootsma, Hendrika; Kallenberg, Cees G. M.; Vissink, Arjan; Horvath, Steve; Wong, David T.

    Objective. To identify key target genes and activated signaling pathways associated with the pathogenesis of Sjogren's syndrome (SS) by conducting a systems analysis of parotid glands manifesting primary SS or primary SS/mucosa-associated lymphoid tissue (MALT) lymphoma phenotypes. Methods. A

  10. Multi-element analysis of emeralds and associated rocks by k{sub 0} neutron activation analysis

    Energy Technology Data Exchange (ETDEWEB)

    Acharya, R.N.; Mondal, R.K.; Burte, P.P.; Nair, A.G.C.; Reddy, N.B.Y.; Reddy, L.K.; Reddy, A.V.R.; Manohar, S.B

    2000-12-15

    Multi-element analysis was carried out in natural emeralds, their associated rocks and one sample of beryl obtained from Rajasthan, India. The concentrations of 21 elements were assayed by Instrumental Neutron Activation Analysis using the k{sub 0} method (k{sub 0} INAA method) and high-resolution gamma ray spectrometry. The data reveal the segregation of some elements from associated (trapped and host) rocks to the mineral beryl forming the gemstones. A reference rock standard of the US Geological Survey (USGS BCR-1) was also analysed as a control of the method.

  11. Signal Detection Analysis of Factors Associated with Diabetes among Semirural Mexican American Adults

    Science.gov (United States)

    Hanni, K. D.; Ahn, D. A.; Winkleby, M. A.

    2013-01-01

    Signal detection analysis was used to evaluate a combination of sociodemographic, acculturation, mental health, health care, and chronic disease risk factors potentially associated with diabetes in a sample of 4,505 semirural Mexican American adults. Overall, 8.9% of adults had been diagnosed with diabetes. The analysis resulted in 12 mutually…

  12. Methodology for Risk Analysis of Dam Gates and Associated Operating Equipment Using Fault Tree Analysis

    National Research Council Canada - National Science Library

    Patev, Robert C; Putcha, Chandra; Foltz, Stuart D

    2005-01-01

    .... This report summarizes research on methodologies to assist in quantifying risks related to dam gates and associated operating equipment, and how those risks relate to overall spillway failure risk...

  13. Meta-analysis on the association between toothbrushing and head and neck cancer.

    Science.gov (United States)

    Zeng, Xian-Tao; Leng, Wei-Dong; Zhang, Chao; Liu, Jing; Cao, Shi-Yi; Huang, Wei

    2015-05-01

    Epidemiological studies have focused on the association between toothbrushing and head and neck cancer (HNC). However, the question of whether toothbrushing is associated with decreased risk of HNC remains unanswered. Since there is currently no systematic review or meta-analysis available to provide quantitative findings on this important clinical question; we consequently performed this meta-analysis to investigate the association between toothbrushing and HNC risk. We searched PubMed and Embase up to January 13 (updated on October 20), 2014 to identify observational studies that investigated the association between toothbrushing and HNC. After study section and data extraction, the meta-analysis was conducted using RevMan 5.2 software. A total of 18 case-control studies involving 7068 cases and 9990 controls were included. The meta-analysis showed that compared with highest toothbrushing frequency, lowest level was significantly increased risk of HNC 2.08 times (odds ratio=2.08, 95% confidence interval=1.65-2.62). This significant association remained consistent after adjusting for smoking status and alcohol consumption. No publication bias was detected. This meta-analysis found frequency of toothbrushing was significantly associated with HNC risk. Effective toothbrushing may be potentially important for the prevention of HNC and we suggest that the frequency be twice per day (morning and night). Copyright © 2015 Elsevier Ltd. All rights reserved.

  14. Association of OPN rs11730582 polymorphism with cancer risk: a meta-analysis

    Directory of Open Access Journals (Sweden)

    He LL

    2016-03-01

    Full Text Available Lanlan He,1,* Yong Wang2,* 1Emergency Department, Zhenjiang First People’s Hospital, Zhenjiang, People’s Republic of China; 2Department of Interventional Radiology and Vascular Surgery, Zhongda Hospital, Southeast University, Nanjing, Jiangsu, People’s Republic of China *Both authors contributed equally to this work Purpose: Several molecular epidemiological studies have investigated the association between OPN rs11730582 C>T polymorphism and cancer risk, but the results are inconsistent. Hence, a meta-analysis was conducted to determine the association of this polymorphism with cancer risk. Materials and methods: The related articles were searched in PubMed, Embase, and Chinese National Knowledge Infrastructure databases. Pooled odds ratios and 95% confidence intervals were calculated to evaluate the strength of the associations. A random-effects model or fixed-effects model was employed depending on the heterogeneity. Results: A total of ten case-control studies involving 2,749 cancer cases and 3,398 controls were included in the meta-analysis. In overall analysis, OPN rs11730582 C>T polymorphism was not associated with cancer risk. In a stratified analysis by cancer type, no significant association was found between OPN rs11730582 C>T polymorphism and the risk of glioma, gastric cancer, and other cancers. Conclusion: This meta-analysis suggests that OPN rs11730582 C>T polymorphism is not associated with cancer susceptibility. Keywords: osteopontin, polymorphism, cancer, risk 

  15. Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor

    DEFF Research Database (Denmark)

    Wang, Zhaoming; McGlynn, Katherine A.; Rajpert-De Meyts, Ewa

    2017-01-01

    The international Testicular Cancer Consortium (TECAC) combined five published genome-wide association studies of testicular germ cell tumor (TGCT; 3,558 cases and 13,970 controls) to identify new susceptibility loci. We conducted a fixed-effects meta-analysis, including, to our knowledge...... by identifying one and three additional independent SNPs, respectively. In aggregate, the 39 independent markers identified to date explain 37% of father-to-son familial risk, 8% of which can be attributed to the 12 new signals reported here. Our findings substantially increase the number of known TGCT...

  16. Network graph analysis of gene-gene interactions in genome-wide association study data.

    Science.gov (United States)

    Lee, Sungyoung; Kwon, Min-Seok; Park, Taesung

    2012-12-01

    Most common complex traits, such as obesity, hypertension, diabetes, and cancers, are known to be associated with multiple genes, environmental factors, and their epistasis. Recently, the development of advanced genotyping technologies has allowed us to perform genome-wide association studies (GWASs). For detecting the effects of multiple genes on complex traits, many approaches have been proposed for GWASs. Multifactor dimensionality reduction (MDR) is one of the powerful and efficient methods for detecting high-order gene-gene (GxG) interactions. However, the biological interpretation of GxG interactions identified by MDR analysis is not easy. In order to aid the interpretation of MDR results, we propose a network graph analysis to elucidate the meaning of identified GxG interactions. The proposed network graph analysis consists of three steps. The first step is for performing GxG interaction analysis using MDR analysis. The second step is to draw the network graph using the MDR result. The third step is to provide biological evidence of the identified GxG interaction using external biological databases. The proposed method was applied to Korean Association Resource (KARE) data, containing 8838 individuals with 327,632 single-nucleotide polymorphisms, in order to perform GxG interaction analysis of body mass index (BMI). Our network graph analysis successfully showed that many identified GxG interactions have known biological evidence related to BMI. We expect that our network graph analysis will be helpful to interpret the biological meaning of GxG interactions.

  17. Meta-Analysis of the Association between Mir-196a-2 Polymorphism and Cancer Susceptibility

    International Nuclear Information System (INIS)

    Zhang, Huan; Su, Yu-liang; Yu, Herbert; Qian, Bi-yun

    2012-01-01

    MicroRNA plays a vital role in gene expression, and microRNA dysregulation is involved in carcinogenesis. The miR-196a-2 polymorphism rs11614913 is reportedly associated with cancer susceptibility. This meta-analysis was performed to assess the overall association of miR-196a-2 with cancer risk. A total of 27 independent case-control studies involving 10,435 cases and 12,075 controls were analyzed for the rs11614913 polymorphism. A significant association was found between rs11614913 polymorphism and cancer risk in four genetic models (CT vs. TT, OR=1.15, 95%CI=1.05–1.27; CC vs. TT, OR=1.23, 95%CI=1.08–1.39; Dominant model, OR=1.17, 95%CI=1.06–1.30; Additive model, OR=1.08, 95%CI=1.01–1.14). In the subgroup analysis of different tumor types, the C allele was associated with increased risk of lung, breast, and colorectal cancer, but not with liver, gastric, or esophageal cancer. In the subgroup analysis by ethnicity, a significantly increased risk of cancer was found among Asians in all genetic models, but no associations were found in the Caucasian subgroup. The meta-analysis demonstrated that the miR-196a-2 polymorphism is associated with cancer susceptibility, especially lung cancer, colorectal cancer, and breast cancer among Asian populations

  18. Association between Hypertension and Epistaxis: Systematic Review and Meta-analysis.

    Science.gov (United States)

    Min, Hyun Jin; Kang, Hyun; Choi, Geun Joo; Kim, Kyung Soo

    2017-12-01

    Objective Whether there is an association or a cause-and-effect relationship between epistaxis and hypertension is a subject of longstanding controversy. The objective of this systematic review and meta-analysis was to determine the association between epistaxis and hypertension and to verify whether hypertension is an independent risk factor of epistaxis. Data Sources A comprehensive search was performed using the MEDLINE, EMBASE, and Cochrane Library databases. Review Methods The review was performed according to the Meta-analysis of Observational Studies in Epidemiology guidelines and reported using the Preferred Reporting Items for Systematic Reviews and Meta-analysis guidelines. Results We screened 2768 unique studies and selected 10 for this meta-analysis. Overall, the risk of epistaxis was significantly increased for patients with hypertension (odds ratio, 1.532 [95% confidence interval (CI), 1.181-1.986]; number needed to treat, 14.9 [95% CI, 12.3-19.0]). Results of the Q test and I 2 statistics suggested considerable heterogeneity ([Formula: see text] = 0.038, I 2 = 49.3%). The sensitivity analysis was performed by excluding 1 study at a time, and it revealed no change in statistical significance. Conclusion Although this meta-analysis had some limitations, our study demonstrated that hypertension was significantly associated with the risk of epistaxis. However, since this association does not support a causal relationship between hypertension and epistaxis, further clinical trials with large patient populations will be required to determine the impact of hypertension on epistaxis.

  19. Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.

    Science.gov (United States)

    Wang, Zhaoming; McGlynn, Katherine A; Rajpert-De Meyts, Ewa; Bishop, D Timothy; Chung, Charles C; Dalgaard, Marlene D; Greene, Mark H; Gupta, Ramneek; Grotmol, Tom; Haugen, Trine B; Karlsson, Robert; Litchfield, Kevin; Mitra, Nandita; Nielsen, Kasper; Pyle, Louise C; Schwartz, Stephen M; Thorsson, Vésteinn; Vardhanabhuti, Saran; Wiklund, Fredrik; Turnbull, Clare; Chanock, Stephen J; Kanetsky, Peter A; Nathanson, Katherine L

    2017-07-01

    The international Testicular Cancer Consortium (TECAC) combined five published genome-wide association studies of testicular germ cell tumor (TGCT; 3,558 cases and 13,970 controls) to identify new susceptibility loci. We conducted a fixed-effects meta-analysis, including, to our knowledge, the first analysis of the X chromosome. Eight new loci mapping to 2q14.2, 3q26.2, 4q35.2, 7q36.3, 10q26.13, 15q21.3, 15q22.31, and Xq28 achieved genome-wide significance (P < 5 × 10 -8 ). Most loci harbor biologically plausible candidate genes. We refined previously reported associations at 9p24.3 and 19p12 by identifying one and three additional independent SNPs, respectively. In aggregate, the 39 independent markers identified to date explain 37% of father-to-son familial risk, 8% of which can be attributed to the 12 new signals reported here. Our findings substantially increase the number of known TGCT susceptibility alleles, move the field closer to a comprehensive understanding of the underlying genetic architecture of TGCT, and provide further clues to the etiology of TGCT.

  20. Association of bullous pemphigoid with malignancy: A systematic review and meta-analysis.

    Science.gov (United States)

    Atzmony, Lihi; Mimouni, Ilit; Reiter, Ofer; Leshem, Yael Anne; Taha, Omar; Gdalevich, Michael; Hodak, Emmilia; Mimouni, Daniel

    2017-10-01

    Studies evaluating whether malignancy rate is increased in patients with bullous pemphigoid (BP) have reached conflicting results. We sought to determine whether BP is associated with malignancy. Medline, EMBASE, the Cochrane library, and reference lists of included studies were searched for comparative studies that evaluated the relationship between BP and malignancy. Data were analyzed on the basis of study design: cross-sectional, case control, and cohort. A meta-analysis was performed by using a random effects model to estimate pooled odds ratio. The review included 8 studies. No association between BP and overall cancer was found for any of the study designs. Although a single cohort study reported an association with lymphoid leukemia and kidney and larynx cancer, a pooled analysis of case-control studies did not. A pooled analysis of cross-sectional studies found a significant association between BP and hematologic malignancies. The paucity of well-designed studies hindered the possibility of proving or disproving the BP-cancer association. We did not find an association of BP with overall malignancy, but a possible association with hematologic malignancy was observed. Copyright © 2017 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  1. Association analysis for quality traits in a diverse panel of Chinese sesame (Sesamum indicum L.) germplasm.

    Science.gov (United States)

    Wei, Wenliang; Zhang, Yanxin; Lü, Haixia; Li, Donghua; Wang, Linhai; Zhang, Xiurong

    2013-08-01

    The main objective of this study was to evaluate the potential of a sesame (Sesamum indicum L.) panel for association analysis, and investigate the genetic basis of oil content (OC), protein content, oleic acid concentration, and linoleic acid concentration using association mapping. A panel of 216 sesame accessions was phenotyped in a multi-environment trial and fingerprinted with 608 polymorphic loci produced by 79 primers, including simple sequence repeats (SSRs), sequence-related amplified polymorphisms (SRAPs), and amplified fragment length polymorphisms (AFLPs). Population structure analysis revealed two subgroups in the population. The Q model performed better for its ability to re-identify associations for the four traits at highly significant P-values compared to the other three mixed models. And a total of 35 and 25 associations for the four traits in 2010 and 2011 were identified, respectively, with the Q model after Bonferroni correction. Among those associations, only one for OC was re-identified in two environments, and several markers associated simultaneously with multiple traits were discovered. These results suggest the power and stability of the Q model for association analysis of nutritional traits in this sesame panel for its slight population stratification and familial relationship, which could aid in dissecting complex traits, and could help to develop strategies for improving nutritional quality. © 2013 Institute of Botany, Chinese Academy of Sciences.

  2. Powerful Tests for Multi-Marker Association Analysis Using Ensemble Learning.

    Directory of Open Access Journals (Sweden)

    Badri Padhukasahasram

    Full Text Available Multi-marker approaches have received a lot of attention recently in genome wide association studies and can enhance power to detect new associations under certain conditions. Gene-, gene-set- and pathway-based association tests are increasingly being viewed as useful supplements to the more widely used single marker association analysis which have successfully uncovered numerous disease variants. A major drawback of single-marker based methods is that they do not look at the joint effects of multiple genetic variants which individually may have weak or moderate signals. Here, we describe novel tests for multi-marker association analyses that are based on phenotype predictions obtained from machine learning algorithms. Instead of assuming a linear or logistic regression model, we propose the use of ensembles of diverse machine learning algorithms for prediction. We show that phenotype predictions obtained from ensemble learning algorithms provide a new framework for multi-marker association analysis. They can be used for constructing tests for the joint association of multiple variants, adjusting for covariates and testing for the presence of interactions. To demonstrate the power and utility of this new approach, we first apply our method to simulated SNP datasets. We show that the proposed method has the correct Type-1 error rates and can be considerably more powerful than alternative approaches in some situations. Then, we apply our method to previously studied asthma-related genes in 2 independent asthma cohorts to conduct association tests.

  3. Association analysis of FTO gene polymorphisms with obesity in Greek adults.

    Science.gov (United States)

    Goutzelas, Yiannis; Kotsa, Kalliopi; Vasilopoulos, Yiannis; Tsekmekidou, Xanthippi; Stamatis, Costas; Yovos, John G; Sarafidou, Theologia; Mamuris, Zissis

    2017-05-20

    Nowadays, obesity is the greatest scourge worldwide, particularly for the developed countries and is a huge burden for the public health. Over the past decade, GWAS have revealed a number of genes associated with obesity. The fat mass and obesity associated (FTO) gene was the first one associated with obesity in a significant number of populations and recent meta-analysis studies confirm this association. FTO is a N-methyladenosine demethylase and in addition to the genetic association, its biological role in the regulation of body weight has been documented. Due to lack of replication regarding FTO association with obesity in the Greek adult population, we analyzed three SNPs, i.e. rs9939609, rs9930506 and rs3751812 in a cohort of 203 adults, comprising of 95 obese, 58 overweight and 50 control individuals. Analysis has shown a significant association for FTO (rs9930506; A/G) 'G' allele with obesity and a difference by 3.2 BMI units between the two homozygotes (AA versus GG). This association, which was detected for the first time in this population, suggests that FTO rs9930506 is a predisposition marker to obesity in the Greek adults, but the results should be taken cautiously due to the limitation of the relatively small sample size of the subjects. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. A graph-graph approach to the analysis of the set of associative rules

    Science.gov (United States)

    Belim, S. V.; Smirnova, T. B.; Mironenko, A. N.

    2018-01-01

    The article proposes a method for processing a set of associative rules, which makes it possible to identify additional relationships between the set of objects under study. The proposed approach consists of three stages. At the first stage, associative rules are revealed from the statistical data. At the second stage, constructed weighted oriented graph of relationships between the objects of the system. The third stage analyses the graph and identifies the community (community), which allows you to determine the groups of the most related objects. As an example, is given an analysis of the activities of public organizations. The result of the work is a method that allows to identify patterns from the analysis of a set of associative rules, and not just from a separate associative rule.

  5. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

    DEFF Research Database (Denmark)

    Voight, Benjamin F; Scott, Laura J; Steinthorsdottir, Valgerdur

    2010-01-01

    By combining genome-wide association data from 8,130 individuals with type 2 diabetes (T2D) and 38,987 controls of European descent and following up previously unidentified meta-analysis signals in a further 34,412 cases and 59,925 controls, we identified 12 new T2D association signals with combi......By combining genome-wide association data from 8,130 individuals with type 2 diabetes (T2D) and 38,987 controls of European descent and following up previously unidentified meta-analysis signals in a further 34,412 cases and 59,925 controls, we identified 12 new T2D association signals...

  6. Meta-Analysis of Associations Between Interleukin-10 Polymorphisms and Susceptibility to Vasculitis.

    Science.gov (United States)

    Jung, Jae Hyun; Song, Gwan Gyu; Lee, Young Ho

    2015-01-01

    This study determined whether interleukin-10 (IL-10) polymorphisms are associated with susceptibility to vasculitis. A meta-analysis was conducted of the associations between the IL-10 -1082 G/A, -819 C/T, and -592 C/A polymorphisms and the haplotype of the IL-10-1082 G/A, -819 C/T, -592 C/A polymorphisms and vasculitis. A total of 21 comparative studies involving 4121 patients and 5504 controls were considered in the meta-analysis. Meta-analysis revealed no association between the IL-10-1082 G allele and vasculitis in all study subjects (OR = 0.927, 95% CI = 0.780-1.102, p = 0.389). However, disease-specific meta-analysis showed an association between Wegener's granulomatosis (WG) and the IL-10-1082 G allele (OR = 0.729, 95% CI = 0.547-0.971, p = 0.031). Meta-analysis revealed an association between vasculitis and the IL-10-819 C allele (OR = 0.804, 95% CI = 0.706-0.916, p = 0.001) in all study subjects and Behcet's disease (BD) (OR = 0.724, 95% CI = 0.679-0.781, p vasculitis in all study subjects (OR = 0.805, 95% CI = 0.619-0.938, p = 0.005) and BD (OR = 0.718, 95% CI = 0.661-0.781, p vasculitis in Europeans (OR = 1.239, 95% CI = 1.105-1.513, p = 0.035). This meta-analysis showed that IL-10 polymorphisms are associated with vasculitis susceptibility, especially in WG and BD.

  7. Association between Fever and Primary Tooth Eruption: A Systematic Review and Meta-analysis.

    Science.gov (United States)

    A Nemezio, Mariana; Mh De Oliveira, Katharina; C Romualdo, Priscilla; M Queiroz, Alexandra; Wg Paula-E-Silva, Francisco; Ab Silva, Raquel; C Küchler, Erika

    2017-01-01

    To perform a systematic review and meta-analysis to establish if fever is associated with primary tooth eruption. Literature searches involved Pubmed, MEDLINE, Web of Science, Scopus and Cochrane. The potentially relevant studies had the full text analyzed. Only studies concerning fever during eruption period of primary tooth in humans were included. Papers in non-English language, and papers that included syndromic patients or patients with any disease were excluded. The meta-analyses were performed with Review Manager (version 5.3). Only studies that reported the results as dichotomous data were analyzed with Cochran-Mantel-Haenszel test in meta-analysis function of Review Manager 5.3. The fixed-effects model was used to evaluate the association between tooth eruption and fever. Search identified 83 potential studies. After exclusion of the duplicated studies, or were not related to the criteria of inclusion only 6 studies were selected for the systematic review. In the overall meta-analysis, no association was found [OR = 1.32 (0.88-1.96)] between fever and primary tooth eruption. However, in the subgroup analysis, when the method used to measure fever was the rectal temperature there was an association [OR = 2.82 (1.55-5.14)] between fever and primary tooth eruption. There are few suitable studies in the literature regarding the association between primary tooth eruption and fever. However, our study found an association between fever and primary tooth eruption only when rectal temperature was performed. Nemezio MA, De Oliveira KMH, Romualdo PC, Queiroz AM, Paula-e-Silva FWG, Silva RAB, Kuchler EC. Association between Fever and Primary Tooth Eruption: A Systematic Review and Meta-analysis. Int J Clin Pediatr Dent 2017;10(3):293-298.

  8. An actor-partner interdependence analysis of associations between affect and parenting behavior among couples.

    Science.gov (United States)

    Murdock, Kyle W; Lovejoy, M Christine; Oddi, Kate B

    2014-03-01

    Prior studies evaluating associations between parental affect and parenting behavior have typically focused on either mothers or fathers despite evidence suggesting that affect and parenting behavior may be interdependent among couples. This study addressed this gap in the literature by evaluating associations between self-reported affect and parenting behavior using an actor-partner interdependence analysis among a sample of 53 mother-father dyads of 3- to 5-year-old children. Results suggested that mothers' and fathers' negative affect, as well as mothers' and fathers' positive affect, were positively associated. Both mothers' and fathers' negative affect were negatively associated with fathers' positive affect. Mothers' and fathers' harsh/negative parenting behavior, and supportive/engaged parenting behavior, were positively associated. Furthermore, mothers' negative affect was positively associated with mothers' and fathers' harsh/negative parenting behavior while mothers' positive affect was negatively associated with mothers' harsh/negative behavior and positively associated with mothers' supportive/engaged behavior. Fathers' negative affect was positively associated with fathers' supportive/engaged parenting behavior, while fathers' positive affect was positively associated with mothers' and fathers' supportive/engaged behavior. Results highlight the importance of conceptualizing and measuring characteristics of both mothers and fathers, if applicable, when researching the dynamics of interpersonal relationships within families. © 2014 FPI, Inc.

  9. Association between depression and periodontitis: a systematic review and meta-analysis.

    Science.gov (United States)

    Araújo, Milena Moreira; Martins, Carolina Castro; Costa, Lidiane Cristina Machado; Cota, Luís Otávio Miranda; Faria, Rodrigo Lamounier Araújo Melo; Cunha, Fabiano Araújo; Costa, Fernando Oliveira

    2016-03-01

    The aim of this systematic review and meta-analysis was to assess the scientific evidence on the association between depression and periodontitis. An electronic search was conducted in three databases until October 2015 (PROSPERO-CRD42014006451). Hand searches and grey literature were also included. Search retrieved 423 potentially studies. Two independent reviewers selected the studies, extracted data and assessed risk bias through a modified version of Newcastle-Ottawa scale. Meta-analysis was performed for the presence/absence of periodontitis (dichotomic). Summary effect measures and odds ratio (OR) 95% CI were calculated. After selecting the studies, 15 were included in the systematic review (eight cross-sectional, six case-control and one cohort study). Six studies reported that depression was associated with periodontitis, whereas nine studies did not. The majority of studies had low risk of bias by methodological quality assessment. Meta-analysis of seven cross-sectional studies showed no significant association between depression and periodontitis (OR = 1.03, 95% CI = 0.75-1.41). Findings from the present systematic review showed a great heterogeneity among the studies and the summary effect measure of the meta-analysis cannot affirm an association between depression and periodontitis. Future studies with different designs in distinct populations should be conducted to investigate this association. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. Dose-Dependent Associations between Wine Drinking and Breast Cancer Risk - Meta-Analysis Findings.

    Science.gov (United States)

    Chen, Jia-Yan; Zhu, Hong-Cheng; Guo, Qing; Shu, Zheng; Bao, Xu-Hui; Sun, Feng; Qin, Qin; Yang, Xi; Zhang, Chi; Cheng, Hong-Yan; Sun, Xin-Chen

    2016-01-01

    To investigate any potential association between wine and breast cancer risk. We quantitatively assessed associations by conducting a meta-analysis based on evidence from observational studies. In May 2014, we performed electronic searches in PubMed, EmBase and the Cochrane Library to identify studies examining the effect of wine drinking on breast cancer incidence. The relative risk (RR) or odds ratio (OR) were used to measure any such association. The analysis was further stratified by confounding factors that could influence the results. A total of twenty-six studies (eight case-control and eighteen cohort studies) involving 21,149 cases were included in our meta-analysis. Our study demonstrated that wine drinking was associated with breast cancer risk. A 36% increase in breast cancer risk was observed across overall studies based on the highest versus lowest model, with a combined RR of 1.0059 (95%CI 0.97-1.05) in dose-response analysis. However, 5 g/d ethanol from wine seemed to have protective value from our non-linear model. Our findings indicate that wine drinking is associated with breast cancer risk in a dose-dependent manner. High consumption of wine contributes to breast cancer risk with protection exerted by low doses. Further investigations are needed for clarification.

  11. A variational Bayes algorithm for fast and accurate multiple locus genome-wide association analysis

    Directory of Open Access Journals (Sweden)

    Mezey Jason G

    2010-01-01

    Full Text Available Abstract Background The success achieved by genome-wide association (GWA studies in the identification of candidate loci for complex diseases has been accompanied by an inability to explain the bulk of heritability. Here, we describe the algorithm V-Bay, a variational Bayes algorithm for multiple locus GWA analysis, which is designed to identify weaker associations that may contribute to this missing heritability. Results V-Bay provides a novel solution to the computational scaling constraints of most multiple locus methods and can complete a simultaneous analysis of a million genetic markers in a few hours, when using a desktop. Using a range of simulated genetic and GWA experimental scenarios, we demonstrate that V-Bay is highly accurate, and reliably identifies associations that are too weak to be discovered by single-marker testing approaches. V-Bay can also outperform a multiple locus analysis method based on the lasso, which has similar scaling properties for large numbers of genetic markers. For demonstration purposes, we also use V-Bay to confirm associations with gene expression in cell lines derived from the Phase II individuals of HapMap. Conclusions V-Bay is a versatile, fast, and accurate multiple locus GWA analysis tool for the practitioner interested in identifying weaker associations without high false positive rates.

  12. The association between COMT Val158Met polymorphism and migraine risk: A meta-analysis.

    Science.gov (United States)

    Liao, Yao-Jun; Jiang, Jing-Ru; Jin, San-Qing

    2017-05-01

    Background The COMT Val158Met polymorphism has long been regarded as a risk factor for migraine. The possible association between COMT Val158Met polymorphism and migraine has been evaluated in several studies, but the results are not consistent. Therefore, we conduct this meta-analysis to address these issues. Methods The WEB OF SCIENCE and EMBASE databases were searched for eligible studies. The odds ratio (OR) with the corresponding 95% confidence interval (CI) was calculated to estimate the strength of the association between COMT Val158Met polymorphism and migraine. Results Five studies with 979 cases and 1870 controls were ultimately included in the present meta-analysis. The overall data showed no significant association between COMT Val158Met polymorphism and migraine in the multiplicative model (OR = 0.97, 95% CI: 0.78-1.21, p = 0.805) and dominant model (OR = 1.05, 95% CI: 0.75-1.48, p = 0.773), neither in the additive model (OR = 0.97, 95% CI: 0.77-1.23, p = 0.817) nor in the recessive model (OR = 0.88, 95% CI: 0.71-1.09, p = 0.246). In subgroup analysis, both for Caucasian and Asian populations, no statistically significant associations were observed in any genetic models. Conclusions Our meta-analysis suggested that the COMT Val158Met polymorphism was not associated with migraine risk.

  13. Associations Between TNFAIP3 Gene Polymorphisms and Rheumatoid Arthritis Risk: A Meta-analysis.

    Science.gov (United States)

    Zhang, Liang; Yuan, Xier; Zhou, Qiang; Shi, Jiujun; Song, Zhoufeng; Quan, Renfu; Zhang, Dawei

    2017-05-01

    A host of studies investigated the associations between tumor necrosis factor alpha inducible protein 3 (TNFAIP3) gene rs2230926 and rs5029937 polymorphisms and rheumatoid arthritis (RA) susceptibility, but with conflicting findings. Therefore, we explored whether TNFAIP3 gene rs2230926 and rs5029937 polymorphisms are associated with RA by meta-analysis. We performed out a comprehensive literature search of PubMed, Elsevier, Embase, and CNKI databases to identify relevant studies. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the strength of the associations. Literature search identified 10 case-control studies involving 18,014 cases and 20,112 controls in this meta-analysis. Our data supported an association between TNFAIP3 gene rs2230926 and rs5029937 polymorphisms and RA risk. Stratification analysis of ethnicity indicated that rs5029937 polymorphism increased the risk of RA among Caucasians, while rs2230926 polymorphism increased the risk of RA among Asians and Caucasians. In conclusion, this meta-analysis demonstrates that TNFAIP3 gene polymorphisms (rs2230926 and rs5029937) are associated with the increased risk of RA. Copyright © 2017 IMSS. Published by Elsevier Inc. All rights reserved.

  14. A genome-wide association meta-analysis identifies new childhood obesity loci

    Science.gov (United States)

    Bradfield, Jonathan P.; Taal, H. Rob; Timpson, Nicholas J.; Scherag, André; Lecoeur, Cecile; Warrington, Nicole M.; Hypponen, Elina; Holst, Claus; Valcarcel, Beatriz; Thiering, Elisabeth; Salem, Rany M.; Schumacher, Fredrick R.; Cousminer, Diana L.; Sleiman, Patrick M.A.; Zhao, Jianhua; Berkowitz, Robert I.; Vimaleswaran, Karani S.; Jarick, Ivonne; Pennell, Craig E.; Evans, David M.; St. Pourcain, Beate; Berry, Diane J.; Mook-Kanamori, Dennis O; Hofman, Albert; Rivadeinera, Fernando; Uitterlinden, André G.; van Duijn, Cornelia M.; van der Valk, Ralf J.P.; de Jongste, Johan C.; Postma, Dirkje S.; Boomsma, Dorret I.; Gauderman, William J.; Hassanein, Mohamed T.; Lindgren, Cecilia M.; Mägi, Reedik; Boreham, Colin A.G.; Neville, Charlotte E.; Moreno, Luis A.; Elliott, Paul; Pouta, Anneli; Hartikainen, Anna-Liisa; Li, Mingyao; Raitakari, Olli; Lehtimäki, Terho; Eriksson, Johan G.; Palotie, Aarno; Dallongeville, Jean; Das, Shikta; Deloukas, Panos; McMahon, George; Ring, Susan M.; Kemp, John P.; Buxton, Jessica L.; Blakemore, Alexandra I.F.; Bustamante, Mariona; Guxens, Mònica; Hirschhorn, Joel N.; Gillman, Matthew W.; Kreiner-Møller, Eskil; Bisgaard, Hans; Gilliland, Frank D.; Heinrich, Joachim; Wheeler, Eleanor; Barroso, Inês; O'Rahilly, Stephen; Meirhaeghe, Aline; Sørensen, Thorkild I.A.; Power, Chris; Palmer, Lyle J.; Hinney, Anke; Widen, Elisabeth; Farooqi, I. Sadaf; McCarthy, Mark I.; Froguel, Philippe; Meyre, David; Hebebrand, Johannes; Jarvelin, Marjo-Riitta; Jaddoe, Vincent W.V.; Smith, George Davey; Hakonarson, Hakon; Grant, Struan F.A.

    2012-01-01

    Multiple genetic variants have been associated with adult obesity and a few with severe obesity in childhood; however, less progress has been made to establish genetic influences on common early-onset obesity. We performed a North American-Australian-European collaborative meta-analysis of fourteen studies consisting of 5,530 cases (≥95th percentile of body mass index (BMI)) and 8,318 controls (childhood obesity cohorts (n = 2,214 cases and 2,674 controls). Finally, these two loci yielded directionally consistent associations in the GIANT meta-analysis of adult BMI1. PMID:22484627

  15. Characteristics of cyclist crashes in Italy using latent class analysis and association rule mining.

    Directory of Open Access Journals (Sweden)

    Gabriele Prati

    Full Text Available The factors associated with severity of the bicycle crashes may differ across different bicycle crash patterns. Therefore, it is important to identify distinct bicycle crash patterns with homogeneous attributes. The current study aimed at identifying subgroups of bicycle crashes in Italy and analyzing separately the different bicycle crash types. The present study focused on bicycle crashes that occurred in Italy during the period between 2011 and 2013. We analyzed categorical indicators corresponding to the characteristics of infrastructure (road type, road signage, and location type, road user (i.e., opponent vehicle and cyclist's maneuver, type of collision, age and gender of the cyclist, vehicle (type of opponent vehicle, and the environmental and time period variables (time of the day, day of the week, season, pavement condition, and weather. To identify homogenous subgroups of bicycle crashes, we used latent class analysis. Using latent class analysis, the bicycle crash data set was segmented into 19 classes, which represents 19 different bicycle crash types. Logistic regression analysis was used to identify the association between class membership and severity of the bicycle crashes. Finally, association rules were conducted for each of the latent classes to uncover the factors associated with an increased likelihood of severity. Association rules highlighted different crash characteristics associated with an increased likelihood of severity for each of the 19 bicycle crash types.

  16. A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence

    Science.gov (United States)

    Spain, S L; Pedroso, I; Kadeva, N; Miller, M B; Iacono, W G; McGue, M; Stergiakouli, E; Smith, G D; Putallaz, M; Lubinski, D; Meaburn, E L; Plomin, R; Simpson, M A

    2016-01-01

    Although individual differences in intelligence (general cognitive ability) are highly heritable, molecular genetic analyses to date have had limited success in identifying specific loci responsible for its heritability. This study is the first to investigate exome variation in individuals of extremely high intelligence. Under the quantitative genetic model, sampling from the high extreme of the distribution should provide increased power to detect associations. We therefore performed a case–control association analysis with 1409 individuals drawn from the top 0.0003 (IQ >170) of the population distribution of intelligence and 3253 unselected population-based controls. Our analysis focused on putative functional exonic variants assayed on the Illumina HumanExome BeadChip. We did not observe any individual protein-altering variants that are reproducibly associated with extremely high intelligence and within the entire distribution of intelligence. Moreover, no significant associations were found for multiple rare alleles within individual genes. However, analyses using genome-wide similarity between unrelated individuals (genome-wide complex trait analysis) indicate that the genotyped functional protein-altering variation yields a heritability estimate of 17.4% (s.e. 1.7%) based on a liability model. In addition, investigation of nominally significant associations revealed fewer rare alleles associated with extremely high intelligence than would be expected under the null hypothesis. This observation is consistent with the hypothesis that rare functional alleles are more frequently detrimental than beneficial to intelligence. PMID:26239293

  17. Joint analysis for genome-wide association studies in family-based designs.

    Directory of Open Access Journals (Sweden)

    Qiuying Sha

    Full Text Available In family-based data, association information can be partitioned into the between-family information and the within-family information. Based on this observation, Steen et al. (Nature Genetics. 2005, 683-691 proposed an interesting two-stage test for genome-wide association (GWA studies under family-based designs which performs genomic screening and replication using the same data set. In the first stage, a screening test based on the between-family information is used to select markers. In the second stage, an association test based on the within-family information is used to test association at the selected markers. However, we learn from the results of case-control studies (Skol et al. Nature Genetics. 2006, 209-213 that this two-stage approach may be not optimal. In this article, we propose a novel two-stage joint analysis for GWA studies under family-based designs. For this joint analysis, we first propose a new screening test that is based on the between-family information and is robust to population stratification. This new screening test is used in the first stage to select markers. Then, a joint test that combines the between-family information and within-family information is used in the second stage to test association at the selected markers. By extensive simulation studies, we demonstrate that the joint analysis always results in increased power to detect genetic association and is robust to population stratification.

  18. Joint analysis for genome-wide association studies in family-based designs.

    Science.gov (United States)

    Sha, Qiuying; Zhang, Zhaogong; Zhang, Shuanglin

    2011-01-01

    In family-based data, association information can be partitioned into the between-family information and the within-family information. Based on this observation, Steen et al. (Nature Genetics. 2005, 683-691) proposed an interesting two-stage test for genome-wide association (GWA) studies under family-based designs which performs genomic screening and replication using the same data set. In the first stage, a screening test based on the between-family information is used to select markers. In the second stage, an association test based on the within-family information is used to test association at the selected markers. However, we learn from the results of case-control studies (Skol et al. Nature Genetics. 2006, 209-213) that this two-stage approach may be not optimal. In this article, we propose a novel two-stage joint analysis for GWA studies under family-based designs. For this joint analysis, we first propose a new screening test that is based on the between-family information and is robust to population stratification. This new screening test is used in the first stage to select markers. Then, a joint test that combines the between-family information and within-family information is used in the second stage to test association at the selected markers. By extensive simulation studies, we demonstrate that the joint analysis always results in increased power to detect genetic association and is robust to population stratification.

  19. Associations between TNFAIP3 gene polymorphisms and systemic lupus erythematosus risk: an updated meta-analysis.

    Science.gov (United States)

    Zhang, M-Y; Yang, X-K; Pan, H-F; Ye, D-Q

    2016-11-01

    In order to determine whether tumor necrosis factor alpha inducible protein 3 (TNFAIP3) gene polymorphisms confers susceptibility to systemic lupus erythematosus (SLE) in ethnically different populations. A meta-analysis was conducted to examine the association between TNFAIP3 polymorphisms and susceptibility to SLE. A systematic literature search was conducted to identify all relevant studies. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to estimate the strength of the association. A total of 23 studies from 20 articles, involving 18,501 patients with SLE and 30,435 healthy controls were included in this meta-analysis. Overall, we found significant association between SLE and the TNFAIP3 rs2230926, rs5029937, rs5029939, and rs3757173 polymorphisms (all P < 0.001). Stratification by ethnicity indicated that rs5029939 polymorphism was associated with SLE in Europeans, while rs2230926, rs5029937, and rs3757173 polymorphisms were associated with SLE both in Europeans and Asians (all P < 0.001). The results of our meta-analysis suggest that TNFAIP3 (rs2230926, rs5029937, rs5029939, and rs3757173) polymorphisms are associated with susceptibility to SLE. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence.

    Science.gov (United States)

    Spain, S L; Pedroso, I; Kadeva, N; Miller, M B; Iacono, W G; McGue, M; Stergiakouli, E; Davey Smith, G; Putallaz, M; Lubinski, D; Meaburn, E L; Plomin, R; Simpson, M A

    2016-08-01

    Although individual differences in intelligence (general cognitive ability) are highly heritable, molecular genetic analyses to date have had limited success in identifying specific loci responsible for its heritability. This study is the first to investigate exome variation in individuals of extremely high intelligence. Under the quantitative genetic model, sampling from the high extreme of the distribution should provide increased power to detect associations. We therefore performed a case-control association analysis with 1409 individuals drawn from the top 0.0003 (IQ >170) of the population distribution of intelligence and 3253 unselected population-based controls. Our analysis focused on putative functional exonic variants assayed on the Illumina HumanExome BeadChip. We did not observe any individual protein-altering variants that are reproducibly associated with extremely high intelligence and within the entire distribution of intelligence. Moreover, no significant associations were found for multiple rare alleles within individual genes. However, analyses using genome-wide similarity between unrelated individuals (genome-wide complex trait analysis) indicate that the genotyped functional protein-altering variation yields a heritability estimate of 17.4% (s.e. 1.7%) based on a liability model. In addition, investigation of nominally significant associations revealed fewer rare alleles associated with extremely high intelligence than would be expected under the null hypothesis. This observation is consistent with the hypothesis that rare functional alleles are more frequently detrimental than beneficial to intelligence.

  1. Genome-Wide Association Analysis of Ischemic Stroke in Young Adults

    OpenAIRE

    Cheng, Yu-Ching; O’Connell, Jeffrey R.; Cole, John W.; Stine, O. Colin; Dueker, Nicole; McArdle, Patrick F.; Sparks, Mary J.; Shen, Jess; Laurie, Cathy C.; Nelson, Sarah; Doheny, Kimberly F.; Ling, Hua; Pugh, Elizabeth W.; Brott, Thomas G.; Brown, Robert D.

    2011-01-01

    Ischemic stroke (IS) is among the leading causes of death in Western countries. There is a significant genetic component to IS susceptibility, especially among young adults. To date, research to identify genetic loci predisposing to stroke has met only with limited success. We performed a genome-wide association (GWA) analysis of early-onset IS to identify potential stroke susceptibility loci. The GWA analysis was conducted by genotyping 1 million SNPs in a biracial population of 889 IS cases...

  2. Histological analysis of the association between formocresol and endotoxin in the subcutaneous tissue of mice

    OpenAIRE

    Sant'anna, Ana Teresa; Spolidório, Luis Carlos; Ramalho, Lizeti Toledo Oliveira

    2008-01-01

    This study performed a histological analysis of the effect of formocresol associated to endotoxin (LPS) in the subcutaneous connective tissue of mice. Ninety mice were randomly assigned to 3 groups (n=30). Each animal received one plastic tube implant containing endotoxin solution (10 mg/mL), formocresol (original formula) or a mixture of endotoxin and formocresol. The endotoxin and formocresol groups served as controls. The periods of analysis were 7, 15 and 30 days. At each experimental per...

  3. Immunochip analysis identifies association of the RAD50/IL13 region with human longevity

    DEFF Research Database (Denmark)

    Flachsbart, Friederike; Ellinghaus, David; Gentschew, Liljana

    2016-01-01

    . First, we performed a large-scale association study on 1458 German LLI (mean age 99.0 years) and 6368 controls (mean age 57.2 years) by targeting known immune-associated loci covered by the Immunochip. The analysis of 142 136 autosomal single nucleotide polymorphisms (SNPs) revealed an Immunochip...... (1257 LLI, mean age 102.4 years; 1811 controls, mean age 49.1 years) and Denmark (493 LLI, mean age 96.2 years; 740 controls, mean age 63.1 years). The association at SNP rs2706372 replicated in the French study collection and showed a similar trend in the Danish participants and was also significant...

  4. Supplementary graphical analysis for the multi-density expansion of associating fluids

    International Nuclear Information System (INIS)

    Chang, Jaeeon

    2014-01-01

    We present a detailed analysis of Wertheim's multi-density formulation for the thermodynamic properties of associating fluids with a single attraction site. Graphical expressions are explicitly illustrated for the partition function, multi-densities and direct correlation functions, and they are compared with those from the classical singledensity formulation of simple fluids. The steric incompatibility among three monomers greatly simplifies cluster integrals of associating fluids, which allows dimerizing association only. Graphical expressions for the pressure and the Helmholtz energy are derived by using functional derivatives, which provide a theoretical base for TPT and SAFT equations of state

  5. Analysis of the phenomena associated with structural damage using real time vibration analysis

    International Nuclear Information System (INIS)

    Garcia Peyrano, O; Cismondi, L; Damiani, H; Torres, E

    2004-01-01

    It is of interest to have analytical methodologies available for the dynamic behavior of large mechanical structures like those in thermal cycle systems of nuclear power plants or in transport systems during the experimental stage prior to their construction, as happens in aeronautics, where prototypes are tested in experimental banks on a scale of 1 to 1. The same does not occur with systems for the generation of electrical energy such as a nuclear power plant or in ships, competition automobiles, railway systems, etc. Not because of the technical impossibility but because of the high costs involved. This work aims to implement a technology based on the analysis of the vibrations to obtain a profile of the modal dynamic response and its influence on the critical components of the mechanisms with the particularity of detecting the preventive location of the component that may suffer a potential damage. The Vibrations Analysis Laboratory has resolved different cases in the Embalse Nuclear Plant, in the Atucha Nuclear Plant, in the Heavy Water Industrial Plant, in the automobile industry and in other industrial areas (CW)

  6. Association between variations in the disrupted in schizophrenia 1 gene and schizophrenia: A meta-analysis.

    Science.gov (United States)

    Xu, Yiliang; Ren, Jun; Ye, Haihong

    2018-04-20

    Schizophrenia is a severe psychiatric disorder. Genetic and functional studies have strongly implicated the disrupted in schizophrenia 1 gene (DISC1) as a candidate susceptibility gene for schizophrenia. Moreover, recent association studies have indicated that several DISC1 single nucleotide polymorphisms (SNPs) are associated with schizophrenia. However, the association is hardly replicate in different ethnic group. Here, we performed a meta-analysis of the association between DISC1 SNPs and schizophrenia in which the samples were divided into subgroups according to ethnicity. Both rs3738401 and rs821616 showed not significantly association with schizophrenia in the Caucasian, Asian, Japanese or Han Chinese populations. Copyright © 2018 Elsevier B.V. All rights reserved.

  7. Jung's analysis of Sabina Spielrein and his use of Freud's free association method.

    Science.gov (United States)

    Hoffer, A

    2001-01-01

    This paper examines Jung's use of Freud's free association method and his own association experiments in his analysis of Sabina Spielrein in 1904-1905. Jung's gradual rejection of the Freudian free association method is noted. By the time of their split in 1913, Jung came to view Freud's method of using associations to analyse personal complexes as reductive, limiting and backward-looking. He also felt that the Freudian method threatened the analysand by creating confusion and a regressive dependency on the analyst. Jung's early approach inclined away from personal pain in favour of analysing autonomous, impersonal and collective phenomena. The historical question is raised whether Jung's rejection of the use of the free associations of the individual analysand might be as fundamental as their well-known disagreement about Freud's belief in the central role of sexuality in neurosis.

  8. Association between FOXP3 polymorphisms and susceptibility to autoimmune diseases: A meta-analysis.

    Science.gov (United States)

    Lee, Min-Gu; Bae, Sang-Cheol; Lee, Young Ho

    2015-01-01

    The aim of this study was to explore whether the FOXP3 -3279 A/C polymorphism and (GT)n microsatellite polymorphisms are associated with susceptibility to autoimmune diseases. A meta-analysis was conducted on the associations between the FOXP3 -3279 A/C polymorphism and (GT)15 and (GT)16 polymorphisms and autoimmune diseases. Twenty-two comparative studies with a total of 7962 patients and 7453 controls were included in the meta-analysis. Meta-analysis revealed an association between autoimmune disease and the FOXP3 -3279 AA + AC genotype (OR = 1.480, 95% CI = 1.263-1.614, p autoimmune diseases in Asians (OR = 1.416, 95% CI = 1.225-1.637, p = 2.5 × 10(-7)) and non-Caucasians (OR = 1.432, 95% CI = 1.245-1.647, p = 7.5 × 10(-8)). In addition, corrected p values for multiple testing remained significant. Meta-analysis revealed no association between autoimmune disease and the FOXP3 (GT)15 allele (OR = 1.051, 95% CI = 0.933-1.183, p = 0.413). Similarly, the FOXP3 (GT)16 allele showed no associations with autoimmune disease. This meta-analysis indicates that the FOXP3 -3279 A/C polymorphism is associated with susceptibility to autoimmune disease in Asians and non-Caucasians.

  9. Global association between ambient air pollution and blood pressure: A systematic review and meta-analysis.

    Science.gov (United States)

    Yang, Bo-Yi; Qian, Zhengmin; Howard, Steven W; Vaughn, Michael G; Fan, Shu-Jun; Liu, Kang-Kang; Dong, Guang-Hui

    2018-04-01

    Although numerous studies have investigated the association of ambient air pollution with hypertension and blood pressure (BP), the results were inconsistent. We performed a comprehensive systematic review and meta-analysis of these studies. Seven international and Chinese databases were searched for studies examining the associations of particulate (diameter10 μm (PM 10 )) and gaseous (sulfur dioxide (SO 2 ), nitrogen dioxide (NO 2 ), nitrogen oxides (NO x ), ozone (O 3 ), carbon monoxide (CO)) air pollutants with hypertension or BP. Odds ratios (OR), regression coefficients (β) and their 95% confidence intervals were calculated to evaluate the strength of the associations. Subgroup analysis, sensitivity analysis, and meta-regression analysis were also conducted. The overall meta-analysis showed significant associations of long-term exposures to PM 2.5 with hypertension (OR = 1.05), and of PM 10 , PM 2.5 , and NO 2 with DBP (β values: 0.47-0.86 mmHg). In addition, short-term exposures to four (PM 10 , PM 2.5 , SO 2 , NO 2 ), two (PM 2.5 and SO 2 ), and four air pollutants (PM 10 , PM 2.5 , SO 2 , and NO 2 ), were significantly associated with hypertension (ORs: 1.05-1.10), SBP (β values: 0.53-0.75 mmHg) and DBP (β values: 0.15-0.64 mmHg), respectively. Stratified analyses showed a generally stronger relationship among studies of men, Asians, North Americans, and areas with higher air pollutant levels. In conclusion, our study indicates a positive association between ambient air pollution and increased BP and hypertension. Geographical and socio-demographic factors may modify the pro-hypertensive effects of air pollutants. Copyright © 2018 Elsevier Ltd. All rights reserved.

  10. Association between MTHFR A1298C polymorphism and male infertility: A meta-analysis.

    Science.gov (United States)

    Zhang, Qiang; Yin, Guo-Ying; Liu, Juan; Liang, Yue; Li, Yao-Yan; Zhao, Jing-Yu; Zhang, Li-Wen; Wang, Bai-Qi; Tang, Nai-Jun

    2017-04-01

    There have been several epidemiological studies evaluating the potential association between the methylenetetrahydrofolate reductase (MTHFR) A1298C polymorphism and the risk of male infertility. However, the results obtained were inconsistent. Therefore, we performed a meta-analysis to further examine the association between the MTHFR A1298C polymorphism and male infertility. A comprehensive search was conducted to identify all eligible studies from the online literature databases published prior to January 15th, 2016. A total of 20 studies with 4293 cases and 4507 controls were included. An odds ratio (OR) and a 95% confidence interval (95% CI) were calculated to assess the strength of the association. A cumulative meta-analysis, sensitivity analysis and assessment of the publication bias were also performed in this study. The results showed that in the overall analysis, the association between the MTHFR A1298C polymorphism and male infertility was not significant. A stratified analysis by ethnicity revealed a significant increase in the risk of male infertility in the Asian population with the MTHFR A1298C polymorphism (especially in the heterozygote model: OR=1.20, 95% CI=1.01-1.44, P=0.994; the dominant model: OR=1.23, 95% CI=1.04-1.45, P=0.996; and the allele model: OR=1.20, 95% CI=1.04-1.39, P=0.985) but not in the Caucasian population. In the stratified analyses, no significant association was observed between the different types of male infertility. This meta-analysis suggests the MTHFR A1298C polymorphism may be a potential risk factor for male infertility, especially in the Asian population.

  11. Pathway-based analysis using reduced gene subsets in genome-wide association studies

    Directory of Open Access Journals (Sweden)

    Liu Jianjun

    2011-01-01

    Full Text Available Abstract Background Single Nucleotide Polymorphism (SNP analysis only captures a small proportion of associated genetic variants in Genome-Wide Association Studies (GWAS partly due to small marginal effects. Pathway level analysis incorporating prior biological information offers another way to analyze GWAS's of complex diseases, and promises to reveal the mechanisms leading to complex diseases. Biologically defined pathways are typically comprised of numerous genes. If only a subset of genes in the pathways is associated with disease then a joint analysis including all individual genes would result in a loss of power. To address this issue, we propose a pathway-based method that allows us to test for joint effects by using a pre-selected gene subset. In the proposed approach, each gene is considered as the basic unit, which reduces the number of genetic variants considered and hence reduces the degrees of freedom in the joint analysis. The proposed approach also can be used to investigate the joint effect of several genes in a candidate gene study. Results We applied this new method to a published GWAS of psoriasis and identified 6 biologically plausible pathways, after adjustment for multiple testing. The pathways identified in our analysis overlap with those reported in previous studies. Further, using simulations across a range of gene numbers and effect sizes, we demonstrate that the proposed approach enjoys higher power than several other approaches to detect associated pathways. Conclusions The proposed method could increase the power to discover susceptibility pathways and to identify associated genes using GWAS. In our analysis of genome-wide psoriasis data, we have identified a number of relevant pathways for psoriasis.

  12. Association Rules Analysis of Comorbidity and Multimorbidity: The Concord Health and Aging in Men Project.

    Science.gov (United States)

    Held, Fabian P; Blyth, Fiona; Gnjidic, Danijela; Hirani, Vasant; Naganathan, Vasikaran; Waite, Louise M; Seibel, Markus J; Rollo, Jennifer; Handelsman, David J; Cumming, Robert G; Le Couteur, David G

    2016-05-01

    Comorbidity and multimorbidity are common in older people. Here we used a novel analytic approach called Association Rules together with network analysis to evaluate multimorbidity (two or more disorders) and comorbidity in old age. A population-based cross-sectional study was undertaken where 17 morbidities were analyzed using network analysis, cluster analysis, and Association Rules methodology. A comorbidity interestingness score was developed to quantify the richness and variability of comorbidities associated with an index condition. The participants were community-dwelling men aged 70 years or older from the Concord Health and Ageing in Men Project, Sydney, Australia, with complete data (n = 1,464). The vast majority (75%) of participants had multimorbidity. Several morbidity clusters were apparent (vascular cluster, metabolic cluster, neurodegenerative cluster, mental health and other cluster, and a musculoskeletal and other cluster). Association Rules revealed unexpected comorbidities with high lift and confidence linked to index diseases. Anxiety and heart failure had the highest comorbidity interestingness scores while obesity, hearing impairment, and arthritis had the lowest (zero) scores. We also performed Association Rules analysis for the geriatric syndromes of frailty and falls to determine their association with multimorbidity. Frailty had a very complex and rich set of frequent and interesting comorbidities, while there were no frequent and interesting sets associated with falls. Old age is characterized by a complex pattern of multimorbidity and comorbidity. Single disease definitions do not account for the prevalence and complexity of multimorbidity in older people and a new lexicon may be needed to underpin research and health care interventions for older people. © The Author 2015. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  13. Associations between interleukin-1 polymorphisms and susceptibility to vasculitis: a meta-analysis.

    Science.gov (United States)

    Song, G G; Kim, J-H; Lee, Y H

    2016-05-01

    The objective of this study was to determine whether interleukin-1 (IL-1) polymorphisms are associated with susceptibility to vasculitis. A meta-analysis was conducted to investigate possible associations between IL-1A, IL-1B, and IL-1 receptor antagonist (IL1RN) polymorphisms and vasculitis. A total of 17 studies involving 1384 vasculitis cases [Behçet's disease (BD), IgA vasculitis, anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), Kawasaki disease (KD), giant cell arteritis, and Takayasu's arteritis] and 2710 controls were included in the meta-analysis. This analysis showed an association between BD and the TT + TC genotypes of the IL-1A-889 C/T polymorphism in the entire study population [odds ratio (OR) = 0.623, 95 % CI = 0.395-0.981, p = 0.045), and a trend toward an association in a Turkish population (OR = 0.578, 95 % CI = 0.331-1.010, p = 0.054). A meta-analysis of the IL1RN polymorphism revealed no association with vasculitis in all study subjects (OR for IL1RN*2 = 0.904, 95 % CI = 0.626-1.304, p = 0.588). However, stratification by ethnicity revealed a significant association between the IL1RN*2 allele and vasculitis including AAV, BD, KD in Asians (OR = 2.393, 95 % CI = 1.429-4.006, p = 0.001), but not in Caucasian and Turkish populations (OR = 0.776, 95 % CI = 0.487-1.238, p = 0.288; OR = 0.914, 95 % CI = 0.667-1.252, p = 0.576, respectively). No association was found between vasculitis and the IL-1B-511 C/T polymorphism, or the IL-1B+3953 C/T polymorphism. This meta-analysis suggests that the IL-1A-889 C/T polymorphism is associated with susceptibility to BD, and that the IL1RN*2 allele is associated with susceptibility to vasculitis including AAV, BD, and KD in Asians.

  14. Resiliency in American Library Association Award Winning Juvenile Fiction: A Correlational Content Analysis

    Science.gov (United States)

    Foreman, Michelle T.

    2010-01-01

    The purpose of this quantitative content analysis was to determine whether there was a relationship between the age, gender, or race of protagonists in contemporary American Library Association award-winning juvenile literature and the representation of resilience by those characters. Award-winning juvenile fiction and biography books were…

  15. Molecular genetic analysis of Type II diabetes associated m.3243A ...

    African Journals Online (AJOL)

    Saidul Abrar

    Molecular genetic analysis of Type II diabetes associated m.3243A>G mitochondrial DNA mutation in a Pakistani family. Saidul Abrar a, Khushi Muhammad b, Hasnain Zaman c, Suleman Khan b, Faisal Nouroz a,d, Nousheen Bibi a,* a Department of Bioinformatics, Hazara University Mansehra, Pakistan b Department of ...

  16. Risk associated with central catheters for malignant tumor patients: a systematic review and meta-analysis.

    Science.gov (United States)

    Lv, Yajuan; Hou, Yong; Pan, Bo; Ma, Yuwan; Li, Paiyun; Yu, Lili; Xu, Deguo; Song, Juanjuan; Shang, Heli; Wang, Hongyan; Tian, Yuan

    2018-02-23

    The risk of venous thrombosis and mortality associated with central catheter (PICC/CICC) for malignant tumor patients is not definite. So, we carried out a systematic review and meta-analysis to evaluate it. Among patients with comparing PICC with CICC, odds ratio (OR) or risk ratio (RR) was calculated with a random effect model meta-analysis. The result of the stratification analysis of 7 studies (PICC vs CICC) supported the theory that CICCs were associated with a decrease in the odds ratio of thrombosis compared with PICCs. 7 of 15 studies provided the information about the compared mortality rate of the patients. The result showed that CICCs were associated with a decrease in the odds ratio of thrombosis compared with PICCs (OR = 0.45, 95% CI:0.32-0.62, p < 0.0001, I 2 = 0%,Tau 2 = 0.00). Meta-analysis of 8 studies of 2639 patients showed that pharmacological deep vein thrombosis prophylaxis drugs could decrease the risk of mortality of malignant tumor patients with CICCs (RR = 0.58, 95% CI:0.48-0.71, Z = 5.32, p < 0.0001, I 2 = 71%). We found that PICCs are associated with a raised risk of deep vein thrombosis, and pharmacological deep vein thrombosis prophylaxis drugs is a beneficial factor in decreasing the incidence of thrombosis, while warfarin may decrease the risk of mortality of malignant tumor patients with CICCs.

  17. Genome-wide association analysis identifies 13 new risk loci for schizophrenia

    NARCIS (Netherlands)

    Ripke, Stephan; O'Dushlaine, Colm; Chambert, Kimberly; Moran, Jennifer L.; Kähler, Anna K.; Akterin, Susanne; Bergen, Sarah E.; Collins, Ann L.; Crowley, James J.; Fromer, Menachem; Kim, Yunjung; Lee, Sang Hong; Magnusson, Patrik K. E.; Sanchez, Nick; Stahl, Eli A.; Williams, Stephanie; Wray, Naomi R.; Xia, Kai; Bettella, Francesco; Borglum, Anders D.; Bulik-Sullivan, Brendan K.; Cormican, Paul; Craddock, Nick; de Leeuw, Christiaan; Durmishi, Naser; Gill, Michael; Golimbet, Vera; Hamshere, Marian L.; Holmans, Peter; Hougaard, David M.; Kendler, Kenneth S.; Lin, Kuang; Morris, Derek W.; Mors, Ole; Mortensen, Preben B.; Neale, Benjamin M.; O'Neill, Francis A.; Owen, Michael J.; Milovancevic, Milica Pejovic; Posthuma, Danielle; Powell, John; Richards, Alexander L.; Riley, Brien P.; Ruderfer, Douglas; Rujescu, Dan; Sigurdsson, Engilbert; Silagadze, Teimuraz; Smit, August B.; Stefansson, Hreinn; Steinberg, Stacy; Suvisaari, Jaana; Tosato, Sarah; Verhage, Matthijs; Walters, James T.; Levinson, Douglas F.; Gejman, Pablo V.; Laurent, Claudine; Mowry, Bryan J.; O'Donovan, Michael C.; Pulver, Ann E.; Schwab, Sibylle G.; Wildenauer, Dieter B.; Dudbridge, Frank; Shi, Jianxin; Albus, Margot; Alexander, Madeline; Campion, Dominique; Cohen, David; Dikeos, Dimitris; Duan, Jubao; Eichhammer, Peter; Godard, Stephanie; Hansen, Mark; Lerer, F. Bernard; Liang, Kung-Yee; Maier, Wolfgang; Mallet, Jacques; Nertney, Deborah A.; Nestadt, Gerald; Norton, Nadine; Papadimitriou, George N.; Ribble, Robert; Sanders, Alan R.; Silverman, Jeremy M.; Walsh, Dermot; Williams, Nigel M.; Wormley, Brandon; Arranz, Maria J.; Bakker, Steven; Bender, Stephan; Bramon, Elvira; Collier, David; Crespo-Facorro, Benedicto; Hall, Jeremy; Iyegbe, Conrad; Jablensky, Assen; Kahn, Rene S.; Kalaydjieva, Luba; Lawrie, Stephen; Lewis, Cathryn M.; Linszen, Don H.; Mata, Ignacio; McIntosh, Andrew; Murray, Robin M.; Ophoff, Roel A.; van Os, Jim; Walshe, Muriel; Weisbrod, Matthias; Wiersma, Durk; Donnelly, Peter; Barroso, Ines; Blackwell, Jenefer M.; Brown, Matthew A.; Casas, Juan P.; Corvin, Aiden P.; Deloukas, Panos; Duncanson, Audrey; Jankowski, Janusz; Markus, Hugh S.; Mathew, Christopher G.; Palmer, Colin N. A.; Plomin, Robert; Rautanen, Anna; Sawcer, Stephen J.; Trembath, Richard C.; Viswanathan, Ananth C.; Wood, Nicholas W.; Spencer, Chris C. A.; Band, Gavin; Bellenguez, Céline; Freeman, Colin; Hellenthal, Garrett; Giannoulatou, Eleni; Pirinen, Matti; Pearson, Richard D.; Strange, Amy; Su, Zhan; Vukcevic, Damjan; Langford, Cordelia; Hunt, Sarah E.; Edkins, Sarah; Gwilliam, Rhian; Blackburn, Hannah; Bumpstead, Suzannah J.; Dronov, Serge; Gillman, Matthew; Gray, Emma; Hammond, Naomi; Jayakumar, Alagurevathi; McCann, Owen T.; Liddle, Jennifer; Potter, Simon C.; Ravindrarajah, Radhi; Ricketts, Michelle; Tashakkori-Ghanbaria, Avazeh; Waller, Matthew J.; Weston, Paul; Widaa, Sara; Whittaker, Pamela; McCarthy, Mark I.; Stefansson, Kari; Scolnick, Edward; Purcell, Shaun; McCarroll, Steven A.; Sklar, Pamela; Hultman, Christina M.; Sullivan, Patrick F.

    2013-01-01

    Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial public health impact. We conducted a multi-stage genome-wide association study (GWAS) for schizophrenia beginning with a Swedish national sample (5,001 cases and 6,243 controls) followed by meta-analysis with

  18. Meta-analysis of Genome-Wide Association Studies for Extraversion

    DEFF Research Database (Denmark)

    van den Berg, Stéphanie M; de Moor, Marleen H M; Verweij, K. J. H.

    2016-01-01

    small sample sizes of those studies. Here, we report on a large meta-analysis of GWA studies for extraversion in 63,030 subjects in 29 cohorts. Extraversion item data from multiple personality inventories were harmonized across inventories and cohorts. No genome-wide significant associations were found...

  19. Testing key predictions of the associative account of mirror neurons in humans using multivariate pattern analysis

    NARCIS (Netherlands)

    Oosterhof, N.N.; Wiggett, AJ.; Cross, E.S.

    2014-01-01

    Cook et al. overstate the evidence supporting their associative account of mirror neurons in humans: most studies do not address a key property, action-specificity that generalizes across the visual and motor domains. Multivariate pattern analysis (MVPA) of neuroimaging data can address this

  20. Testing key predictions of the associative account of mirror neurons in humans using multivariate pattern analysis.

    Science.gov (United States)

    Oosterhof, Nikolaas N; Wiggett, Alison J; Cross, Emily S

    2014-04-01

    Cook et al. overstate the evidence supporting their associative account of mirror neurons in humans: most studies do not address a key property, action-specificity that generalizes across the visual and motor domains. Multivariate pattern analysis (MVPA) of neuroimaging data can address this concern, and we illustrate how MVPA can be used to test key predictions of their account.

  1. A mega-analysis of genome-wide association studies for major depressive disorder

    NARCIS (Netherlands)

    Sullivan, Patrick F.; Daly, Mark J.; Ripke, Stephan; Lewis, Cathryn M.; Lin, Dan-Yu; Wray, Naomi R.; Neale, Benjamin; Levinson, Douglas F.; Breen, Gerome; Byrne, Enda M.; Wray, Naomi R.; Levinson, Douglas F.; Rietschel, Marcella; Hoogendijk, Witte; Ripke, Stephan; Sullivan, Patrick F.; Hamilton, Steven P.; Levinson, Douglas F.; Lewis, Cathryn M.; Ripke, Stephan; Weissman, Myrna M.; Wray, Naomi R.; Breuer, Rene; Cichon, Sven; Degenhardt, Franziska; Frank, Josef; Gross, Magdalena; Herms, Stefan; Hoefels, Susanne; Maier, Wolfgang; Mattheisen, Manuel; Noeethen, Markus M.; Rietschel, Marcella; Schulze, Thomas G.; Steffens, Michael; Treutlein, Jens; Boomsma, Dorret I.; De Geus, Eco J.; Hoogendijk, Witte; Hottenga, Jouke Jan; Jung-Ying, Tzeng; Lin, Dan-Yu; Middeldorp, Christel M.; Nolen, Willem A.; Penninx, Brenda P.; Smit, Johannes H.; Sullivan, Patrick F.; van Grootheest, Gerard; Willemsen, Gonneke; Zitman, Frans G.; Coryell, William H.; Knowles, James A.; Lawson, William B.; Levinson, Douglas F.; Potash, James B.; Scheftner, William A.; Shi, Jianxin; Weissman, Myrna M.; Holsboer, Florian; Muglia, Pierandrea; Tozzi, Federica; Blackwood, Douglas H. R.; Boomsma, Dorret I.; De Geus, Eco J.; Hottenga, Jouke Jan; MacIntyre, Donald J.; McIntosh, Andrew; McLean, Alan; Middeldorp, Christel M.; Penninx, Brenda P.; Ripke, Stephan; Smit, Johannes H.; Sullivan, Patrick F.; van Grootheest, Gerard; Willemsen, Gonneke; Zitman, Frans G.; van den Oord, Edwin J. C. G.; Holsboer, Florian; Lucae, Susanne; Binder, Elisabeth; Mueller-Myhsok, Bertram; Ripke, Stephan; Czamara, Darina; Kohli, Martin A.; Ising, Marcus; Uhr, Manfred; Bettecken, Thomas; Barnes, Michael R.; Breen, Gerome; Craig, Ian W.; Farmer, Anne E.; Lewis, Cathryn M.; McGuffin, Peter; Muglia, Pierandrea; Byrne, Enda; Gordon, Scott D.; Heath, Andrew C.; Henders, Anjali K.; Hickie, Ian B.; Madden, Pamela A. F.; Martin, Nicholas G.; Montgomery, Grant M.; Nyholt, Dale R.; Pergadia, Michele L.; Wray, Naomi R.; Hamilton, Steven P.; McGrath, Patrick J.; Shyn, Stanley I.; Slager, Susan L.; Oskarsson, Hoegni; Sigurdsson, Engilbert; Stefansson, Hreinn; Stefansson, Kari; Steinberg, Stacy; Thorgeirsson, Thorgeir; Levinson, Douglas F.; Potash, James B.; Shi, Jianxin; Weissman, Myrna M.; Guipponi, Michel; Lewis, Glyn; O'Donovan, Michael; Tansey, Katherine E.; Uher, Rudolf; Coryell, William H.; Knowles, James A.; Lawson, William B.; Levinson, Douglas F.; Potash, James B.; Scheftner, William A.; Shi, Jianxin; Weissman, Myrna M.; Castro, Victor M.; Churchill, Susanne E.; Fava, Maurizio; Gainer, Vivian S.; Gallagher, Patience J.; Goryachev, Sergey; Iosifescu, Dan V.; Kohane, Isaac S.; Murphy, Shawn N.; Perlis, Roy H.; Smoller, Jordan W.; Weilburg, Jeffrey B.; Kutalik, Zoltan; Preisig, Martin; Grabe, Hans J.; Nauck, Matthias; Schulz, Andrea; Teumer, Alexander; Voelzke, Henry; Landen, Mikael; Lichtenstein, Paul; Magnusson, Patrik; Pedersen, Nancy; Viktorin, Alexander

    Prior genome-wide association studies (GWAS) of major depressive disorder (MDD) have met with limited success. We sought to increase statistical power to detect disease loci by conducting a GWAS mega-analysis for MDD. In the MDD discovery phase, we analyzed more than 1.2 million autosomal and X

  2. Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution

    NARCIS (Netherlands)

    C.M. Lindgren (Cecilia); I.M. Heid (Iris); J.C. Randall (Joshua); C. Lamina (Claudia); V. Steinthorsdottir (Valgerdur); L. Qi (Lu); E.K. Speliotes (Elizabeth); G. Thorleifsson (Gudmar); C.J. Willer (Cristen); B.M. Herrera (Blanca); A.U. Jackson (Anne); N. Lim (Noha); P. Scheet (Paul); N. Soranzo (Nicole); N. Amin (Najaf); Y.S. Aulchenko (Yurii); J.C. Chambers (John); A. Drong (Alexander); J. Luan; H.N. Lyon (Helen); F. Rivadeneira Ramirez (Fernando); S. Sanna (Serena); N.J. Timpson (Nicholas); M.C. Zillikens (Carola); H.Z. Jing; P. Almgren (Peter); S. Bandinelli (Stefania); A.J. Bennett (Amanda); R.N. Bergman (Richard); L.L. Bonnycastle (Lori); S. Bumpstead (Suzannah); S.J. Chanock (Stephen); L. Cherkas (Lynn); P.S. Chines (Peter); L. Coin (Lachlan); C. Cooper (Charles); G. Crawford (Gabe); A. Doering (Angela); A. Dominiczak (Anna); A.S.F. Doney (Alex); S. Ebrahim (Shanil); P. Elliott (Paul); M.R. Erdos (Michael); K. Estrada Gil (Karol); L. Ferrucci (Luigi); G. Fischer (Guido); N.G. Forouhi (Nita); C. Gieger (Christian); H. Grallert (Harald); C.J. Groves (Christopher); S.M. Grundy (Scott); C. Guiducci (Candace); D. Hadley (David); A. Hamsten (Anders); A.S. Havulinna (Aki); A. Hofman (Albert); R. Holle (Rolf); J.W. Holloway (John); T. Illig (Thomas); B. Isomaa (Bo); L.C. Jacobs (Leonie); K. Jameson (Karen); P. Jousilahti (Pekka); F. Karpe (Fredrik); J. Kuusisto (Johanna); J. Laitinen (Jaana); G.M. Lathrop (Mark); D.A. Lawlor (Debbie); M. Mangino (Massimo); W.L. McArdle (Wendy); T. Meitinger (Thomas); M.A. Morken (Mario); A.P. Morris (Andrew); P. Munroe (Patricia); N. Narisu (Narisu); A. Nordström (Anna); B.A. Oostra (Ben); C.N.A. Palmer (Colin); F. Payne (Felicity); J. Peden (John); I. Prokopenko (Inga); F. Renström (Frida); A. Ruokonen (Aimo); V. Salomaa (Veikko); M.S. Sandhu (Manjinder); L.J. Scott (Laura); A. Scuteri (Angelo); K. Silander (Kaisa); K. Song (Kijoung); X. Yuan (Xin); H.M. Stringham (Heather); A.J. Swift (Amy); T. Tuomi (Tiinamaija); M. Uda (Manuela); P. Vollenweider (Peter); G. Waeber (Gérard); C. Wallace (Chris); G.B. Walters (Bragi); M.N. Weedon (Michael); J.C.M. Witteman (Jacqueline); C. Zhang (Cuilin); M. Caulfield (Mark); F.S. Collins (Francis); G.D. Smith; I.N.M. Day (Ian); P.W. Franks (Paul); A.T. Hattersley (Andrew); F.B. Hu (Frank); M.-R. Jarvelin (Marjo-Riitta); A. Kong (Augustine); J.S. Kooner (Jaspal); M. Laakso (Markku); E. Lakatta (Edward); V. Mooser (Vincent); L. Peltonen (Leena Johanna); N.J. Samani (Nilesh); T.D. Spector (Timothy); D.P. Strachan (David); T. Tanaka (Toshiko); J. Tuomilehto (Jaakko); A.G. Uitterlinden (André); P. Tikka-Kleemola (Päivi); N.J. Wareham (Nick); H. Watkins (Hugh); D. Waterworth (Dawn); M. Boehnke (Michael); P. Deloukas (Panagiotis); L. Groop (Leif); D.J. Hunter (David); U. Thorsteinsdottir (Unnur); D. Schlessinger (David); H.E. Wichmann (Erich); T.M. Frayling (Timothy); G.R. Abecasis (Gonçalo); J.N. Hirschhorn (Joel); R.J.F. Loos (Ruth); J-A. Zwart (John-Anker); K.L. Mohlke (Karen); I. Barroso (Inês); M.I. McCarthy (Mark)

    2009-01-01

    textabstractTo identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist circumference (WC) and waist-hip ratio (WHR). We selected 26 SNPs for follow-up, for which the

  3. A genome-wide association meta-analysis identifies new childhood obesity loci

    NARCIS (Netherlands)

    Bradfield, Jonathan P.; Taal, H. Rob; Timpson, Nicholas J.; Scherag, Andre; Lecoeur, Cecile; Warrington, Nicole M.; Hypponen, Elina; Holst, Claus; Valcarcel, Beatriz; Thiering, Elisabeth; Salem, Rany M.; Schumacher, Fredrick R.; Cousminer, Diana L.; Sleiman, Patrick M. A.; Zhao, Jianhua; Berkowitz, Robert I.; Vimaleswaran, Karani S.; Jarick, Ivonne; Pennell, Craig E.; Evans, David M.; St Pourcain, Beate; Berry, Diane J.; Mook-Kanamori, Dennis O.; Hofman, Albert; Rivadeneira, Fernando; Uitterlinden, Andre G.; van Duijn, Cornelia M.; van der Valk, Ralf J. P.; de Jongste, Johan C.; Postma, Dirkje S.; Boomsma, Dorret I.; Gauderman, W. James; Hassanein, Mohamed T.; Lindgren, Cecilia M.; Magi, Reedik; Boreham, Colin A. G.; Neville, Charlotte E.; Moreno, Luis A.; Elliott, Paul; Pouta, Anneli; Hartikainen, Anna-Liisa; Li, Mingyao; Raitakari, Olli; Lehtimaki, Terho; Eriksson, Johan G.; Palotie, Aarno; Dallongeville, Jean; Das, Shikta; Deloukas, Panos; McMahon, George; Ring, Susan M.; Kemp, John P.; Buxton, Jessica L.; Blakemore, Alexandra I. F.; Bustamante, Mariona; Guxens, Monica; Hirschhorn, Joel N.; Gillman, Matthew W.; Kreiner-Moller, Eskil; Bisgaard, Hans; Gilliland, Frank D.; Heinrich, Joachim; Wheeler, Eleanor; Barroso, Ines; O'Rahilly, Stephen; Meirhaeghe, Aline; Sorensen, Thorkild I. A.; Power, Chris; Palmer, Lyle J.; Hinney, Anke; Widen, Elisabeth; Farooqi, I. Sadaf; McCarthy, Mark I.; Froguel, Philippe; Meyre, David; Hebebrand, Johannes; Jarvelin, Marjo-Riitta; Jaddoe, Vincent W. V.; Smith, George Davey; Hakonarson, Hakon; Grant, Struan F. A.

    Multiple genetic variants have been associated with adult obesity and a few with severe obesity in childhood; however, less progress has been made in establishing genetic influences on common early-onset obesity. We performed a North American, Australian and European collaborative meta-analysis of

  4. A genome-wide association meta-analysis identifies new childhood obesity loci

    NARCIS (Netherlands)

    Bradfield, J.P.; Taal, H.R.; Timpson, N.J.; Scherag, A.; Lecoeur, C.; Warrington, N.M.; Hypponen, E.; Holst, C.; Valcarcel, B.; Thiering, E.; Salem, R.M.; Schumacher, F.R.; Cousminer, D.L.; Sleiman, P.M.A.; Zhao, J.; Berkowitz, R.I.; Vimaleswaran, K.S.; Jarick, I.; Pennell, C.E.; Evans, D.M.; St Pourcain, B.; Berry, D.J.; Mook-Kanamori, D.O.; Hofman, A.; Rivadeneira, F.; Uitterlinden, A.G.; van Duijn, C.M.; van der Valk, R.J.P.; de Jongste, J.C.; Postma, D.S.; Boomsma, D.I.; Gauderman, W.J.; Hassanein, M.T.; Lindgren, C.M.; Mägi, R.; Boreham, C.A.G.; Neville, C.E.; Moreno, L.A.; Elliott, P.; Pouta, A.; Hartikainen, A.-L.; Li, M.; Raitakari, O.; Lehtimäki, T.; Eriksson, J.G.; Palotie, A.; Dallongeville, J.; Das, S.; Deloukas, P.; McMahon, G.; Ring, S.M.; Kemp, J.P.; Buxton, J.L.; Blakemore, A.I.F.; Bustamante, M.; Guxens, M.; Hirschhorn, J.N.; Gillman, M.W.; Kreiner-Møller, E.; Bisgaard, H.; Gilliland, F.D.; Heinrich, J.; Wheeler, E.; Barroso, I.; O'Rahilly, S.; Meirhaeghe, A.; Sørensen, T.I.A.; Power, C.; Palmer, L.J.; Hinney, A.; Widen, E.; Farooqi, I.S.; McCarthy, M.I.; Froguel, P.; Meyre, D.; Hebebrand, J.; Järvelin, M.J.; Jaddoe, V.W.V.; Smith, G.D.; Hakonarson, H.; Grant, S.F.A.

    2012-01-01

    Multiple genetic variants have been associated with adult obesity and a few with severe obesity in childhood; however, less progress has been made in establishing genetic influences on common early-onset obesity. We performed a North American, Australian and European collaborative meta-analysis of

  5. Analysis of the socio-economic factors associated with gum Arabic ...

    African Journals Online (AJOL)

    The study is an analysis of the socio-economic factors associated with gum arabic collectors in Northern Guinea Savanna Zone of Adamawa State, Nigeria through a questionnaire survey on a sample of 100 respondents obtained through a multi stage sampling technique. Data collected were analyzed using descriptive ...

  6. Molecular analysis of childhood primitive neuroectodermal tumors defines markers associated with poor outcome

    DEFF Research Database (Denmark)

    Scheurlen, W G; Schwabe, G C; Joos, S

    1998-01-01

    : In our study, amplification of c-myc was a poor-prognosis marker in PNET. LOH of chromosome 17p was associated with metastatic disease. Molecular analysis of primary tumors using these markers may be useful for stratification of children with PNET in future prospective studies. The other aberrations...

  7. Meta-Analysis of Genome-Wide Association Studies of Attention-Deficit/Hyperactivity Disorder

    Science.gov (United States)

    Neale, Benjamin M.; Medland, Sarah E.; Ripke, Stephan; Asherson, Philip; Franke, Barbara; Lesch, Klaus-Peter; Faraone, Stephen V.; Nguyen, Thuy Trang; Schafer, Helmut; Holmans, Peter; Daly, Mark; Steinhausen, Hans-Christoph; Freitag, Christine; Reif, Andreas; Renner, Tobias J.; Romanos, Marcel; Romanos, Jasmin; Walitza, Susanne; Warnke, Andreas; Meyer, Jobst; Palmason, Haukur; Buitelaar, Jan; Vasquez, Alejandro Arias; Lambregts-Rommelse, Nanda; Gill, Michael; Anney, Richard J. L.; Langely, Kate; O'Donovan, Michael; Williams, Nigel; Owen, Michael; Thapar, Anita; Kent, Lindsey; Sergeant, Joseph; Roeyers, Herbert; Mick, Eric; Biederman, Joseph; Doyle, Alysa; Smalley, Susan; Loo, Sandra; Hakonarson, Hakon; Elia, Josephine; Todorov, Alexandre; Miranda, Ana; Mulas, Fernando; Ebstein, Richard P.; Rothenberger, Aribert; Banaschewski, Tobias; Oades, Robert D.; Sonuga-Barke, Edmund; McGough, James; Nisenbaum, Laura; Middleton, Frank; Hu, Xiaolan; Nelson, Stan

    2010-01-01

    Objective: Although twin and family studies have shown attention-deficit/hyperactivity disorder (ADHD) to be highly heritable, genetic variants influencing the trait at a genome-wide significant level have yet to be identified. As prior genome-wide association studies (GWAS) have not yielded significant results, we conducted a meta-analysis of…

  8. A genomic background based method for association analysis in related individuals

    NARCIS (Netherlands)

    N. Amin (Najaf); P. Tikka-Kleemola (Päivi); Y.S. Aulchenko (Yurii)

    2007-01-01

    textabstractBackground. Feasibility of genotyping of hundreds and thousands of single nucleoticle polymorphisms (SNPs) in thousands of study subjects have triggered the need for fast, powerful, and reliable methods for genome-wide association analysis. Here we consider a situation when study

  9. Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins

    NARCIS (Netherlands)

    Postmus, Iris; Trompet, Stella; Deshmukh, Harshal A.; Barnes, Michael R.; Li, Xiaohui; Warren, Helen R.; Chasman, Daniel I.; Zhou, Kaixin; Arsenault, Benoit J.; Donnelly, Louise A.; Wiggins, Kerri L.; Avery, Christy L.; Griffin, Paula; Feng, QiPing; Taylor, Kent D.; Li, Guo; Evans, Daniel S.; Smith, Albert V.; de Keyser, Catherine E.; Johnson, Andrew D.; de Craen, Anton J. M.; Stott, David J.; Buckley, Brendan M.; Ford, Ian; Westendorp, Rudi G. J.; Slagboom, P. Eline; Sattar, Naveed; Munroe, Patricia B.; Sever, Peter; Poulter, Neil; Stanton, Alice; Shields, Denis C.; O'Brien, Eoin; Shaw-Hawkins, Sue; Chen, Y.-D. Ida; Nickerson, Deborah A.; Smith, Joshua D.; Dubé, Marie Pierre; Boekholdt, S. Matthijs; Hovingh, G. Kees; Kastelein, John J. P.; McKeigue, Paul M.; Betteridge, John; Neil, Andrew; Durrington, Paul N.; Doney, Alex; Carr, Fiona; Morris, Andrew; McCarthy, Mark I.; Groop, Leif; Ahlqvist, Emma; Bis, Joshua C.; Rice, Kenneth; Smith, Nicholas L.; Lumley, Thomas; Whitsel, Eric A.; Stürmer, Til; Boerwinkle, Eric; Ngwa, Julius S.; O'Donnell, Christopher J.; Vasan, Ramachandran S.; Wei, Wei-Qi; Wilke, Russell A.; Liu, Ching-Ti; Sun, Fangui; Guo, Xiuqing; Heckbert, Susan R.; Post, Wendy; Sotoodehnia, Nona; Arnold, Alice M.; Stafford, Jeanette M.; Ding, Jingzhong; Herrington, David M.; Kritchevsky, Stephen B.; Eiriksdottir, Gudny; Launer, Leonore J.; Harris, Tamara B.; Chu, Audrey Y.; Giulianini, Franco; Macfadyen, Jean G.; Barratt, Bryan J.; Nyberg, Fredrik; Stricker, Bruno H.; Uitterlinden, André G.; Hofman, Albert; Rivadeneira, Fernando; Emilsson, Valur; Franco, Oscar H.; Ridker, Paul M.; Gudnason, Vilmundur; Liu, Yongmei; Denny, Joshua C.; Ballantyne, Christie M.; Rotter, Jerome I.; Adrienne Cupples, L.; Psaty, Bruce M.; Palmer, Colin N. A.; Tardif, Jean-Claude; Colhoun, Helen M.; Hitman, Graham; Krauss, Ronald M.; Wouter Jukema, J.; Caulfield, Mark J.; Donnelly, Peter; Barroso, Ines; Blackwell, Jenefer M.; Bramon, Elvira; Brown, Matthew A.; Casas, Juan P.; Corvin, Aiden; Deloukas, Panos; Duncanson, Audrey; Jankowski, Janusz; Markus, Hugh S.; Mathew, Christopher G.; Plomin, Robert; Rautanen, Anna; Sawcer, Stephen J.; Trembath, Richard C.; Viswanathan, Ananth C.; Wood, Nicholas W.; Spencer, Chris C. A.; Band, Gavin; Bellenguez, Céline; Freeman, Colin; Hellenthal, Garrett; Giannoulatou, Eleni; Pirinen, Matti; Pearson, Richard; Strange, Amy; Su, Zhan; Vukcevic, Damjan; Langford, Cordelia; Hunt, Sarah E.; Edkins, Sarah; Gwilliam, Rhian; Blackburn, Hannah; Bumpstead, Suzannah J.; Dronov, Serge; Gillman, Matthew; Gray, Emma; Hammond, Naomi; Jayakumar, Alagurevathi; McCann, Owen T.; Liddle, Jennifer; Potter, Simon C.; Ravindrarajah, Radhi; Ricketts, Michelle; Waller, Matthew; Weston, Paul; Widaa, Sara; Whittaker, Pamela

    2014-01-01

    Statins effectively lower LDL cholesterol levels in large studies and the observed interindividual response variability may be partially explained by genetic variation. Here we perform a pharmacogenetic meta-analysis of genome-wide association studies (GWAS) in studies addressing the LDL cholesterol

  10. Genes involved in immunity and apoptosis are associated with human presbycusis based on microarray analysis.

    Science.gov (United States)

    Dong, Yang; Li, Ming; Liu, Puzhao; Song, Haiyan; Zhao, Yuping; Shi, Jianrong

    2014-06-01

    Genes involved in immunity and apoptosis were associated with human presbycusis. CCR3 and GILZ played an important role in the pathogenesis of presbycusis, probably through regulating chemokine receptor, T-cell apoptosis, or T-cell activation pathways. To identify genes associated with human presbycusis and explore the molecular mechanism of presbycusis. Hearing function was tested by pure-tone audiometry. Microarray analysis was performed to identify presbycusis-correlated genes by Illumina Human-6 BeadChip using the peripheral blood samples of subjects. To identify biological process categories and pathways associated with presbycusis-correlated genes, bioinformatics analysis was carried out by Gene Ontology Tree Machine (GOTM) and database for annotation, visualization, and integrated discovery (DAVID). Quantitative RT-PCR (qRT-PCR) was used to validate the microarray data. Microarray analysis identified 469 up-regulated genes and 323 down-regulated genes. Both the dominant biological processes by Gene Ontology (GO) analysis and the enriched pathways by Kyoto encyclopedia of genes and genomes (KEGG) and BIOCARTA showed that genes involved in immunity and apoptosis were associated with presbycusis. In addition, CCR3, GILZ, CXCL10, and CX3CR1 genes showed consistent difference between groups for both the gene chip and qRT-PCR data. The differences of CCR3 and GILZ between presbycusis patients and controls were statistically significant (p < 0.05).

  11. Large-scale association analysis identifies new risk loci for coronary artery disease

    NARCIS (Netherlands)

    Deloukas, Panos; Kanoni, Stavroula; Willenborg, Christina; Farrall, Martin; Assimes, Themistocles L.; Thompson, John R.; Ingelsson, Erik; Saleheen, Danish; Erdmann, Jeanette; Goldstein, Benjamin A.; Stirrups, Kathleen; König, Inke R.; Cazier, Jean-Baptiste; Johansson, Asa; Hall, Alistair S.; Lee, Jong-Young; Willer, Cristen J.; Chambers, John C.; Esko, Tõnu; Folkersen, Lasse; Goel, Anuj; Grundberg, Elin; Havulinna, Aki S.; Ho, Weang K.; Hopewell, Jemma C.; Eriksson, Niclas; Kleber, Marcus E.; Kristiansson, Kati; Lundmark, Per; Lyytikäinen, Leo-Pekka; Rafelt, Suzanne; Shungin, Dmitry; Strawbridge, Rona J.; Thorleifsson, Gudmar; Tikkanen, Emmi; van Zuydam, Natalie; Voight, Benjamin F.; Waite, Lindsay L.; Zhang, Weihua; Ziegler, Andreas; Absher, Devin; Altshuler, David; Balmforth, Anthony J.; Barroso, Inês; Braund, Peter S.; Burgdorf, Christof; Claudi-Boehm, Simone; Cox, David; Dimitriou, Maria; Do, Ron; Doney, Alex S. F.; El Mokhtari, NourEddine; Eriksson, Per; Fischer, Krista; Fontanillas, Pierre; Franco-Cereceda, Anders; Gigante, Bruna; Groop, Leif; Gustafsson, Stefan; Hager, Jörg; Hallmans, Göran; Han, Bok-Ghee; Hunt, Sarah E.; Kang, Hyun M.; Illig, Thomas; Kessler, Thorsten; Knowles, Joshua W.; Kolovou, Genovefa; Kuusisto, Johanna; Langenberg, Claudia; Langford, Cordelia; Leander, Karin; Lokki, Marja-Liisa; Lundmark, Anders; McCarthy, Mark I.; Meisinger, Christa; Melander, Olle; Mihailov, Evelin; Maouche, Seraya; Morris, Andrew D.; Müller-Nurasyid, Martina; Nikus, Kjell; Peden, John F.; Rayner, N. William; Rasheed, Asif; Rosinger, Silke; Rubin, Diana; Rumpf, Moritz P.; Schäfer, Arne; Sivananthan, Mohan; Song, Ci; Stewart, Alexandre F. R.; Tan, Sian-Tsung; Thorgeirsson, Gudmundur; van der Schoot, C. Ellen; Wagner, Peter J.; Wells, George A.; Wild, Philipp S.; Yang, Tsun-Po; Amouyel, Philippe; Arveiler, Dominique; Basart, Hanneke; Boehnke, Michael; Boerwinkle, Eric; Brambilla, Paolo; Cambien, Francois; Cupples, Adrienne L.; de Faire, Ulf; Dehghan, Abbas; Diemert, Patrick; Epstein, Stephen E.; Evans, Alun; Ferrario, Marco M.; Ferrières, Jean; Gauguier, Dominique; Go, Alan S.; Goodall, Alison H.; Gudnason, Villi; Hazen, Stanley L.; Holm, Hilma; Iribarren, Carlos; Jang, Yangsoo; Kähönen, Mika; Kee, Frank; Kim, Hyo-Soo; Klopp, Norman; Koenig, Wolfgang; Kratzer, Wolfgang; Kuulasmaa, Kari; Laakso, Markku; Laaksonen, Reijo; Lee, Ji-Young; Lind, Lars; Ouwehand, Willem H.; Parish, Sarah; Park, Jeong E.; Pedersen, Nancy L.; Peters, Annette; Quertermous, Thomas; Rader, Daniel J.; Salomaa, Veikko; Schadt, Eric; Shah, Svati H.; Sinisalo, Juha; Stark, Klaus; Stefansson, Kari; Trégouët, David-Alexandre; Virtamo, Jarmo; Wallentin, Lars; Wareham, Nicholas; Zimmermann, Martina E.; Nieminen, Markku S.; Hengstenberg, Christian; Sandhu, Manjinder S.; Pastinen, Tomi; Syvänen, Ann-Christine; Hovingh, G. Kees; Dedoussis, George; Franks, Paul W.; Lehtimäki, Terho; Metspalu, Andres; Zalloua, Pierre A.; Siegbahn, Agneta; Schreiber, Stefan; Ripatti, Samuli; Blankenberg, Stefan S.; Perola, Markus; Clarke, Robert; Boehm, Bernhard O.; O'Donnell, Christopher; Reilly, Muredach P.; März, Winfried; Collins, Rory; Kathiresan, Sekar; Hamsten, Anders; Kooner, Jaspal S.; Thorsteinsdottir, Unnur; Danesh, John; Palmer, Colin N. A.; Roberts, Robert; Watkins, Hugh; Schunkert, Heribert; Samani, Nilesh J.

    2013-01-01

    Coronary artery disease (CAD) is the commonest cause of death. Here, we report an association analysis in 63,746 CAD cases and 130,681 controls identifying 15 loci reaching genome-wide significance, taking the number of susceptibility loci for CAD to 46, and a further 104 independent variants (r(2)

  12. Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

    NARCIS (Netherlands)

    Law, Philip J; Berndt, Sonja I.; Speedy, Helen E; Camp, Nicola J; Sava, Georgina P; Skibola, Christine F.; Holroyd, Amy; Joseph, Vijai; Sunter, Nicola J; Nieters, Alexandra; Bea, Silvia; Monnereau, Alain; Martin-Garcia, David; Goldin, Lynn R; Clot, Guillem; Teras, Lauren R.; Quintela, Inés; Birmann, Brenda M.; Jayne, Sandrine; Cozen, Wendy; Majid, Aneela; Smedby, Karin E; Lan, Qing; Dearden, Claire; Brooks-Wilson, Angela R.; Hall, Andrew G; Purdue, Mark P.; Mainou-Fowler, Tryfonia; Vajdic, Claire M.; Jackson, Graham H; Cocco, Pierluigi; Marr, Helen; Zhang, Yawei; Zheng, Tongzhang; Giles, Graham G.; Lawrence, Charles; Call, Timothy G.; Liebow, Mark; Melbye, Mads; Glimelius, Bengt; Mansouri, Larry; Glenn, Martha; Curtin, Karen; Diver, W. Ryan; Link, Brian K.; Conde, Lucia; Bracci, Paige M.; Holly, Elizabeth A.; Jackson, Rebecca D.; Tinker, Lesley F.; Benavente, Yolanda; Boffetta, Paolo; Brennan, Paul; Maynadie, Marc; McKay, James; Albanes, Demetrius; Weinstein, Stephanie; Wang, Zhaoming; Caporaso, Neil E; Morton, Lindsay M.; Severson, Richard K.; Riboli, Elio; Vineis, Paolo; Vermeulen, Roel C H; Southey, Melissa C.; Milne, Roger L; Clavel, Jacqueline; Topka, Sabine; Spinelli, John; Kraft, Peter; Ennas, Maria Grazia; Summerfield, Geoffrey; Ferri, Giovanni M; Harris, Robert J; Miligi, Lucia; Pettitt, Andrew R; North, Kari E.; Allsup, David J; Fraumeni, Joseph F.; Bailey, James R; Offit, Kenneth; Pratt, Guy; Hjalgrim, Henrik; Pepper, Chris; Chanock, Stephen J.; Fegan, Chris; Rosenquist, Richard; De Sanjose, Silvia; Carracedo, Angel; Dyer, Martin J S; Catovsky, Daniel; Campo, Elias; Cerhan, James R.; Allan, James M; Rothman, Nathanial; Houlston, Richard S; Slager, Susan L.

    2017-01-01

    Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed using a merged reference panel of 1,000 Genomes and UK10K data, totalling

  13. Analysis of historical rainfall data and associated risks on rain-fed tef ...

    African Journals Online (AJOL)

    Analysis of historical rainfall data and associated risks on rain-fed tef production at Debre Zeit, central Ethiopia. ... Ethiopian Journal of Agricultural Sciences ... As drought is the major bottleneck for the rain fed tef (Eragrostis tef) production, developing workable strategy that can mitigate its impacts is mandatory. To draw this ...

  14. Association between Lutein and Zeaxanthin Status and the Risk of Cataract: A Meta-Analysis

    Science.gov (United States)

    Liu, Xiao-Hong; Yu, Rong-Bin; Liu, Rong; Hao, Zhen-Xuan; Han, Cheng-Cheng; Zhu, Zhong-Hai; Ma, Le

    2014-01-01

    The purpose of this meta-analysis was to evaluate the relationship between blood lutein and zeaxanthin concentration and the risk of age-related cataract (ARC). MEDLINE, EMBASE, ISI and Cochrane Library were searched to identify relevant studies up to April 2013. Meta-analysis was conducted to obtain pooled relative risks (RRs) for the highest-versus-lowest categories of blood lutein and zeaxanthin concentrations. One cohort study and seven cross-sectional studies were included in the meta-analysis. There were significant inverse associations between nuclear cataract and blood lutein and zeaxanthin concentrations, with the pooled RRs ranging from 0.63 (95% confidence interval (CI): 0.49, 0.77) for zeaxanthin to 0.73 (95% CI: 0.59, 0.87) for lutein. A stronger association between nuclear cataract and blood zeaxanthin might be noted for the studies conducted in the European Nations. Blood lutein and zeaxanthin were also noted to lead towards a decrease in the risk of cortical cataract and subcapsular cataract; however, these pooled RRs were not statistically significant, with the exception of a marginal association between lutein and subcapsular cataract. Our results suggest that high blood lutein and zeaxanthin are significantly associated with a decrease in the risk of nuclear cataract. However, no significant associations were found for ARC in other regions of the lens. PMID:24451312

  15. Associations between interleukin-1 gene polymorphisms and coronary heart disease risk: a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Liang Zhou

    Full Text Available OBJECTIVE: A great number of studies regarding the associations between IL-1B-511, IL-1B+3954 and IL-1RN VNTR polymorphisms within the IL-1gene cluster and coronary heart disease (CHD have been published. However, results have been inconsistent. In this study, a meta-analysis was performed to investigate the associations. METHODS: Published literature from PubMed and Embase databases were searched for eligible publications. Pooled odds ratios (ORs with 95% confidence intervals (CIs were calculated using random- or fixed- effect model. RESULTS: Thirteen studies (3,219 cases/2,445 controls for IL-1B-511 polymorphism, nine studies (1,828 cases/1,818 controls for IL-1B+3954 polymorphism and twelve studies (2,987 cases/ 2,208 controls for IL-1RN VNTR polymorphism were included in this meta analysis. The results indicated that both IL-1B-511 and IL-1B+3954 polymorphisms were not associated with CHD risk (IL-1B-511 T vs. C: OR = 0.98, 95%CI 0.87-1.09; IL-1B+3954 T vs. C: OR = 1.06, 95%CI 0.95-1.19. Similarly, there was no association between IL-1RN VNTR polymorphism and CHD risk (*2 vs. L: OR = 1.00, 95%CI 0.85-1.17. CONCLUSIONS: This meta-analysis suggested that there were no associations between IL-1 gene cluster polymorphisms and CHD.

  16. Network Graph Analysis of Gene-Gene Interactions in Genome-Wide Association Study Data

    Directory of Open Access Journals (Sweden)

    Sungyoung Lee

    2012-12-01

    Full Text Available Most common complex traits, such as obesity, hypertension, diabetes, and cancers, are known to be associated with multiple genes, environmental factors, and their epistasis. Recently, the development of advanced genotyping technologies has allowed us to perform genome-wide association studies (GWASs. For detecting the effects of multiple genes on complex traits, many approaches have been proposed for GWASs. Multifactor dimensionality reduction (MDR is one of the powerful and efficient methods for detecting high-order gene-gene (GxG interactions. However, the biological interpretation of GxG interactions identified by MDR analysis is not easy. In order to aid the interpretation of MDR results, we propose a network graph analysis to elucidate the meaning of identified GxG interactions. The proposed network graph analysis consists of three steps. The first step is for performing GxG interaction analysis using MDR analysis. The second step is to draw the network graph using the MDR result. The third step is to provide biological evidence of the identified GxG interaction using external biological databases. The proposed method was applied to Korean Association Resource (KARE data, containing 8838 individuals with 327,632 single-nucleotide polymorphisms, in order to perform GxG interaction analysis of body mass index (BMI. Our network graph analysis successfully showed that many identified GxG interactions have known biological evidence related to BMI. We expect that our network graph analysis will be helpful to interpret the biological meaning of GxG interactions.

  17. Associations of general parenting and parent-child relationship with pediatric obesity: a meta-analysis.

    Science.gov (United States)

    Pinquart, Martin

    2014-05-01

    The objective of the meta-analysis is to integrate available results on associations of general parenting (not specific to feeding and activity promotion) and parent-child relations with child weight status, eating, and physical activity. Searching in electronic databases and cross-referencing identified 156 empirical studies. Random-effects meta-analysis was computed. A positive parent-child relationship and higher levels of parental responsiveness were associated with lower weight, healthier eating, and more physical activity of the child. Parental demandingness, overprotection, psychological control, inconsistency, and parenting styles showed associations with some of the assessed outcome variables. Most effect sizes were small and varied by study characteristics. The small effects do not support making general parenting styles, parental demandingness, responsiveness, and the quality of the parent-child relationship a main target of preventing and treating obesity. Reducing parental inconsistency may be a better target if available results are replicated in future studies.

  18. Analysis of genome-wide association studies with multiple outcomes using penalization.

    Directory of Open Access Journals (Sweden)

    Jin Liu

    Full Text Available Genome-wide association studies have been extensively conducted, searching for markers for biologically meaningful outcomes and phenotypes. Penalization methods have been adopted in the analysis of the joint effects of a large number of SNPs (single nucleotide polymorphisms and marker identification. This study is partly motivated by the analysis of heterogeneous stock mice dataset, in which multiple correlated phenotypes and a large number of SNPs are available. Existing penalization methods designed to analyze a single response variable cannot accommodate the correlation among multiple response variables. With multiple response variables sharing the same set of markers, joint modeling is first employed to accommodate the correlation. The group Lasso approach is adopted to select markers associated with all the outcome variables. An efficient computational algorithm is developed. Simulation study and analysis of the heterogeneous stock mice dataset show that the proposed method can outperform existing penalization methods.

  19. Histological analysis of the association between formocresol and endotoxin in the subcutaneous tissue of mice.

    Science.gov (United States)

    Sant'anna, Ana Teresa; Spolidório, Luis Carlos; Ramalho, Lizeti Toledo Oliveira

    2008-01-01

    This study performed a histological analysis of the effect of formocresol associated to endotoxin (LPS) in the subcutaneous connective tissue of mice. Ninety mice were randomly assigned to 3 groups (n=30). Each animal received one plastic tube implant containing endotoxin solution (10 mg/mL), formocresol (original formula) or a mixture of endotoxin and formocresol. The endotoxin and formocresol groups served as controls. The periods of analysis were 7, 15 and 30 days. At each experimental period, tissue samples were collected and submitted to routine processing for histological analysis. Endotoxin and formocresol produced necrosis and chronic inflammation at 7 and 15 days. At 30 days, the endotoxin group showed no necrosis, while in the formocresol group necrosis persisted. The formocresol-endotoxin association produced necrosis and chronic inflammation in the same way as observed with formocresol at all experimental periods. In conclusion, formocresol seems not to be able to inactive the toxic effects of endotoxin in connective tissues.

  20. Association Between Periodontitis and Gestational Diabetes Mellitus: Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Esteves Lima, Rafael Paschoal; Cyrino, Renata Magalhães; de Carvalho Dutra, Bernardo; Oliveira da Silveira, Juliana; Martins, Carolina Castro; Miranda Cota, Luis Otávio; Costa, Fernando Oliveira

    2016-01-01

    To the best of the authors' knowledge, there is no systematic review of the potential association between periodontitis and gestational diabetes mellitus (GDM) in the current literature. The aim of the present systematic review and meta-analysis is to search for scientific evidence regarding the association between periodontitis and GDM. The present study was conducted in accordance with the guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement and registered (CRD2014010728) with PROSPERO (International prospective register for systematic reviews, University of York, York, UK). A search was conducted in three electronic databases without restrictions regarding language or date of publication. From 190 studies selected, 15 underwent full-text analysis. Eight studies were eligible (five cross-sectional and three case-control studies), and seven were entered in the meta-analysis. Meta-analysis was performed with tests for sensitivity and statistical heterogeneity. Summary effect measures were calculated by odds ratio (OR) and 95% confidence interval (CI). There was a significant association between periodontitis and GDM in the meta-analyses of four cross-sectional studies (OR 1.67, 95% CI 1.20 to 2.32) and two case-control studies (OR 2.66, 95% CI 1.52 to 4.65). However, sensitivity tests for case-control studies showed a lack of consistency in data; when including one case-control study, the significance was null (meta-analysis of three case-control studies: OR 1.69, 95% CI 0.68 to 4.21). There was substantial clinical, methodologic, and statistical heterogeneity among the studies. The scientific evidence cannot affirm a positive association between periodontitis and GDM. Future studies with different designs in distinct populations should be conducted to investigate this association.

  1. Association between polypharmacy and death: A systematic review and meta-analysis.

    Science.gov (United States)

    Leelakanok, Nattawut; Holcombe, Andrea L; Lund, Brian C; Gu, Xiaomei; Schweizer, Marin L

    Polypharmacy has been linked to a myriad of adverse consequences, and escalating rates of polypharmacy present an emerging concern, particularly among older adults. This systematic review and meta-analysis summarizes the existing literature concerning the association between polypharmacy and mortality. A systematic literature review was done by searching the EMBASE, PubMed, Scopus, and International Pharmaceutical Abstract databases to identify studies assessing the association between polypharmacy and death published until June 2016. Studies that investigated the association between polypharmacy and mortality were eligible for this systematic review and meta-analysis. Data were extracted by the first and second authors independently using a data extraction form. Disagreement was resolved by consensus. A meta-analysis was performed using random effect models. Heterogeneity was assessed using the I 2 statistic. Forty-seven studies were included in this meta-analysis. The underlying populations were heterogeneous (I 2 = 91.5%). When defined as a discrete variable, pooled risk estimates demonstrated a significant association between polypharmacy and death (pooled-adjusted odds ratio [aOR] 1.08 [95% CI 1.04-1.12]). When defined categorically, a dose-response relationship was observed across escalating thresholds for defining polypharmacy. Categorical thresholds for polypharmacy using values of 1-4 medications, 5 medications, and 6-9 medications were significantly associated with death (P discrete and categorical definitions. The causality of this relationship remains unclear, but it emphasizes the need for approaches to health care delivery that achieve an optimal balance of risk and benefit in medication prescribing. Copyright © 2017 American Pharmacists Association®. All rights reserved.

  2. A functional U-statistic method for association analysis of sequencing data.

    Science.gov (United States)

    Jadhav, Sneha; Tong, Xiaoran; Lu, Qing

    2017-11-01

    Although sequencing studies hold great promise for uncovering novel variants predisposing to human diseases, the high dimensionality of the sequencing data brings tremendous challenges to data analysis. Moreover, for many complex diseases (e.g., psychiatric disorders) multiple related phenotypes are collected. These phenotypes can be different measurements of an underlying disease, or measurements characterizing multiple related diseases for studying common genetic mechanism. Although jointly analyzing these phenotypes could potentially increase the power of identifying disease-associated genes, the different types of phenotypes pose challenges for association analysis. To address these challenges, we propose a nonparametric method, functional U-statistic method (FU), for multivariate analysis of sequencing data. It first constructs smooth functions from individuals' sequencing data, and then tests the association of these functions with multiple phenotypes by using a U-statistic. The method provides a general framework for analyzing various types of phenotypes (e.g., binary and continuous phenotypes) with unknown distributions. Fitting the genetic variants within a gene using a smoothing function also allows us to capture complexities of gene structure (e.g., linkage disequilibrium, LD), which could potentially increase the power of association analysis. Through simulations, we compared our method to the multivariate outcome score test (MOST), and found that our test attained better performance than MOST. In a real data application, we apply our method to the sequencing data from Minnesota Twin Study (MTS) and found potential associations of several nicotine receptor subunit (CHRN) genes, including CHRNB3, associated with nicotine dependence and/or alcohol dependence. © 2017 WILEY PERIODICALS, INC.

  3. The association between frequent alcohol drinking and opioid consumption after abdominal surgery: A retrospective analysis.

    Directory of Open Access Journals (Sweden)

    Sheng-Chin Kao

    Full Text Available It is perceived that patients with a history of frequent alcohol consumption require more opioids for postoperative pain control and experience less postoperative nausea and vomiting than patients without such a history. However, there is scarce evidence supporting this notion. The aim of this study was to assess association between frequent alcohol consumption and opioid requirement for postoperative pain control and occurrence of postoperative nausea and vomiting.The medical records for 4143 patients using intravenous patient-control analgesia with opioids after abdominal surgery between January 2010 and September 2013 were obtained, and associations were sought between the cumulative opioid consumption (in intravenous morphine equivalence per body weight (mg/kg in the first 2 days after abdominal operation and several demographic and clinical variables by multiple regression analysis. The association between the occurrence of postoperative nausea and vomiting and several demographic and clinical variables was also sought by multiple logistic regression analysis.Frequent alcohol drinking, among other previously reported factors, was associated with increased opioid consumption for postoperative pain control (p < 0.001. The estimate effect of frequent alcohol drinking was 0.117 mg/kg. Frequent alcohol drinking was also associated with decreased risks of postoperative nausea (odds ratio = 0.59, p = 0.003 and vomiting (odds ratio = 0.49, p = 0.026.Frequent alcohol drinking was associated with increased opioid consumption for postoperative pain control and decreased risks of postoperative nausea and vomiting after abdominal surgery.

  4. Is Article Methodological Quality Associated With Conflicts of Interest?: An Analysis of the Plastic Surgery Literature.

    Science.gov (United States)

    Cho, Brian H; Lopez, Joseph; Means, Jessica; Lopez, Sandra; Milton, Jacqueline; Tufaro, Anthony P; May, James W; Dorafshar, Amir H

    2017-12-01

    Conflicts of interest (COI) are an emerging area of discussion within the field of plastic surgery. Recently, several reports have found that research studies that disclose COI are associated with publication of positive outcomes. We hypothesize that this association is driven by higher-quality studies receiving industry funding. This study aimed to investigate the association between industry support and study methodological quality. We reviewed all entries in Plastic and Reconstructive Surgery, Annals of Plastic Surgery, and Journal of Plastic, Reconstructive, and Aesthetic Surgery within a 1-year period encompassing 2013. All clinical research articles were analyzed. Studies were evaluated blindly for methodology quality based on a validated scoring system. An ordinal logistic regression model was used to examine the association between methodology score and COI. A total of 1474 articles were reviewed, of which 483 met our inclusion criteria. These articles underwent methodological quality scoring. Conflicts of interest were reported in 28 (5.8%) of these articles. After adjusting for article characteristics in the ordinal logistic regression analysis, there was no significant association between articles with COI and higher methodological scores (P = 0.7636). Plastic surgery studies that disclose COI are not associated with higher methodological quality when compared with studies that do not disclose COI. These findings suggest that although the presence of COI is associated with positive findings, the association is not shown to be driven by higher-quality studies.

  5. Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics

    NARCIS (Netherlands)

    Hu, Y.J.; Berndt, S.I.; Gustafsson, S.; Ganna, A.; Hirschhorn, J.; North, K.E.; Ingelsson, E.; Lin, D.Y.; Kiemeney, L.A.L.M.; Vermeulen, S.; et al.,

    2013-01-01

    Meta-analysis of genome-wide association studies (GWASs) has led to the discoveries of many common variants associated with complex human diseases. There is a growing recognition that identifying "causal" rare variants also requires large-scale meta-analysis. The fact that association tests with

  6. Maternal homocysteine in pregnancy and offspring birthweight: epidemiological associations and Mendelian randomization analysis.

    Science.gov (United States)

    Yajnik, Chittaranjan S; Chandak, Giriraj R; Joglekar, Charudatta; Katre, Prachi; Bhat, Dattatray S; Singh, Suraj N; Janipalli, Charles S; Refsum, Helga; Krishnaveni, Ghattu; Veena, Sargoor; Osmond, Clive; Fall, Caroline H D

    2014-10-01

    Disturbed one-carbon (1-C) metabolism in the mother is associated with poor fetal growth but causality of this relationship has not been established. We studied the association between maternal total homocysteine and offspring birthweight in the Pune Maternal Nutrition Study (PMNS, Pune, India) and Parthenon Cohort Study (Mysore, India). We tested for evidence of causality within a Mendelian randomization framework, using a methylenetetrahydrofolatereductase (MTHFR) gene variant rs1801133 (earlier known as 677C→T) by instrumental variable and triangulation analysis, separately and using meta-analysis. Median (IQR) homocysteine concentration and mean (SD) birthweight were 8.6 µmol/l (6.7,10.8) and 2642 g (379) in the PMNS and 6.0 µmol/l (5.1,7.1) and 2871 g (443) in the Parthenon study. Offspring birthweight was inversely related to maternal homocysteine concentration-PMNS: -22 g/SD [95% confidence interval (CI): (-50, 5), adjusted for gestational age and offspring gender]; Parthenon: -57 g (-92, -21); meta-analysis: -40 g (-62, -17)]. Maternal risk genotype at rs1801133 predicted higher homocysteine concentration [PMNS: 0.30 SD/allele (0.14, 0.46); Parthenon: 0.21 SD (0.02, 0.40); meta-analysis: 0.26 SD (0.14, 0.39)]; and lower birthweight [PMNS: -46 g (-102, 11, adjusted for gestational age, offspring gender and rs1801133 genotype); Parthenon: -78 g (-170, 15); meta-analysis: -61 g (-111, -10)]. Instrumental variable and triangulation analysis supported a causal association between maternal homocysteine concentration and offspring birthweight. Our findings suggest a causal role for maternal homocysteine (1-C metabolism) in fetal growth. Reducing maternal homocysteine concentrations may improve fetal growth. © The Author 2014; all rights reserved. Published by Oxford University Press on behalf of the International Epidemiological Association.

  7. Regional Association Analysis of MetaQTLs Delineates Candidate Grain Size Genes in Rice

    Directory of Open Access Journals (Sweden)

    Anurag V. Daware

    2017-05-01

    Full Text Available Molecular mapping studies which aim to identify genetic basis of diverse agronomic traits are vital for marker-assisted crop improvement. Numerous Quantitative Trait Loci (QTLs mapped in rice span long genomic intervals with hundreds to thousands of genes, which limits their utilization for marker-assisted genetic enhancement of rice. Although potent, fine mapping of QTLs is challenging task as it requires screening of large number of segregants to identify suitable recombination events. Association mapping offers much higher resolution as compared to QTL mapping, but detects considerable number of spurious QTLs. Therefore, combined use of QTL and association mapping strategies can provide advantages associated with both these methods. In the current study, we utilized meta-analysis approach to identify metaQTLs associated with grain size/weight in diverse Indian indica and aromatic rice accessions. Subsequently, attempt has been made to narrow-down identified grain size/weight metaQTLs through individual SNP- as well as haplotype-based regional association analysis. The study identified six different metaQTL regions, three of which were successfully revalidated, and substantially scaled-down along with GS3 QTL interval (positive control by regional association analysis. Consequently, two potential candidate genes within two reduced metaQTLs were identified based on their differential expression profiles in different tissues/stages of rice accessions during seed development. The developed strategy has broader practical utility for rapid delineation of candidate genes and natural alleles underlying QTLs associated with complex agronomic traits in rice as well as major crop plants enriched with useful genetic and genomic information.

  8. Using public relations to promote health: a framing analysis of public relations strategies among health associations.

    Science.gov (United States)

    Park, Hyojung; Reber, Bryan H

    2010-01-01

    This study explored health organizations' public relations efforts to frame health issues through their press releases. Content analysis of 316 press releases from three health organizations-the American Heart Association, the American Cancer Society, and the American Diabetes Association-revealed that they used the medical research frame most frequently and emphasized societal responsibility for health issues. There were differences, however, among the organizations regarding the main frames and health issues: the American Diabetes Association was more likely to focus on the issues related to social support and education, while the American Heart Association and the American Cancer Society were more likely to address medical research and scientific news. To demonstrate their initiatives for public health, all the organizations employed the social support/educational frame most frequently. Researchers and medical doctors frequently were quoted as trusted sources in the releases.

  9. [Analysis of pathogens of pneumonia in children based on association rules].

    Science.gov (United States)

    Mao, Xiaojian; Wang, Heyong; An, Dong

    2012-12-01

    The present paper was aimed to study the relationship between the pneumonia clinical features and the pathogens of pneumonia in children by making use of association rules based on the clinical data of 6 300 cases of pneumonia. Through software analysis, the different association relationship can be obtained between different clinical features of pneumonia in children, such as gender, age and region, etc., and the pathogens of pneumonia. For example, children of different sex with the same pathogen showed different association relationships. Due to the different association relationships between the pneumonia clinical features and the pathogens of pneumonia in children of Guangzhou area, different methods in prevention and treatment of children's pneumonia should be adopted according to actual condition, in order to achieve the best results.

  10. Power Estimation for Gene-Longevity Association Analysis Using Concordant Twins

    DEFF Research Database (Denmark)

    Tan, Qihua; Zhao, Jing Hua; Kruse, Torben A

    2014-01-01

    Statistical power is one of the major concerns in genetic association studies. Related individuals such as twins are valuable samples for genetic studies because of their genetic relatedness. Phenotype similarity in twin pairs provides evidence of genetic control over the phenotype variation...... in a population. The genetic association study on human longevity, a complex trait that is under control of both genetic and environmental factors, has been confronted by the small sample sizes of longevity subjects which limit statistical power. Twin pairs concordant for longevity have increased probability...... for carrying beneficial genes and thus are useful samples for gene-longevity association analysis. We conducted a computer simulation to estimate the power of association study using longevity concordant twin pairs. We observed remarkable power increases in using singletons from longevity concordant twin pairs...

  11. Is good insight associated with depression among patients with schizophrenia? Systematic review and meta-analysis.

    Science.gov (United States)

    Belvederi Murri, Martino; Respino, Matteo; Innamorati, Marco; Cervetti, Alice; Calcagno, Pietro; Pompili, Maurizio; Lamis, Dorian A; Ghio, Lucio; Amore, Mario

    2015-03-01

    Among patients with schizophrenia, better insight may be associated with depression, but the findings on this issue are mixed. We examined the association between insight and depression in schizophrenia by conducting a systematic review and meta-analysis. The meta-analysis was based on 59 correlational studies and showed that global clinical insight was associated weakly, but significantly with depression (effect size r=0.14), as were the insight into the mental disorder (r=0.14), insight into symptoms (r=0.14), and symptoms' attributions (r=0.17). Conversely, neither insight into the social consequences of the disorder nor into the need for treatment was associated with symptoms of depression. Better cognitive insight was significantly associated with higher levels of depression. The exploratory meta-regression showed that methodological factors (e.g. the instrument used to assess depression and the phase of the illness) can significantly influence the magnitude of the association between insight and depression. Moreover, results from longitudinal studies suggest that the relation between insight and depression might be stronger than what is observed at the cross-sectional level. Finally, internalized stigma, illness perception, recovery attitudes, ruminative style, and premorbid adjustment seem to be relevant moderators and/or mediators of the association between insight and depression. In conclusion, literature indicates that among patients with schizophrenia, better insight is associated with higher levels of depressive symptoms. Thus, interventions aimed at promoting patients' insight should take into account the clinical implications of these findings. Copyright © 2015 Elsevier B.V. All rights reserved.

  12. The associations between the MAPT polymorphisms and Alzheimer's disease risk: a meta-analysis.

    Science.gov (United States)

    Zhou, Futao; Wang, Danli

    2017-06-27

    Published studies revealed that the microtubule-associated protein tau (MAPT) gene polymorphisms increased Alzheimer's disease (AD) risk; the associations of 4 single nucleotide polymorphisms (SNPs, rs242557G/A, rs2471738C/T, rs3785883G/A and rs1467967A/G) of the MAPT gene with AD risk, however, remain inconclusive. Here, we conducted a meta-analysis to investigate the relationship between the MAPT SNPs and AD risk. A significant association of SNP rs242557 with AD risk was found in a dominant [odds ratio (OR) = 1.05, 95% confidence interval (CI) = 1.01, 1.10, P = 0.025] genetic model, and a suggestive association in an allelic (OR = 1.03, 95% CI = 1.00, 1.06, P = 0.078). When APOE epsilon 4 carrier status was included in stratified analysis, this association was even stronger (allelic model for the APOE epsilon 4 positive individuals: OR = 1.24, 95% CI = 1.08, 1.43, P = 0.003). Furthermore, a significant association of SNP rs2471738 with AD risk was found under all the four models (allelic: OR = 1.11, 95% CI = 1.01, 1.20, P = 0.021; dominant: OR = 1.10, 95% CI = 1.00, 1.21, P = 0.046; recessive: OR = 1.18, 95% CI = 1.05, 1.32, P = 0.004; additive: OR = 1.20, 95% CI = 1.07, 1.34, P = 0.002) models. However, pooled results suggest that the neither rs3785883 nor rs1467967 is associated with AD risk under all the four genetic models. In summary, our study provides further evidence of the associations of the MAPT SNPs with AD risk.

  13. Prefrontal cortex and somatosensory cortex in tactile crossmodal association: an independent component analysis of ERP recordings.

    Directory of Open Access Journals (Sweden)

    Yixuan Ku

    2007-08-01

    Full Text Available Our previous studies on scalp-recorded event-related potentials (ERPs showed that somatosensory N140 evoked by a tactile vibration in working memory tasks was enhanced when human subjects expected a coming visual stimulus that had been paired with the tactile stimulus. The results suggested that such enhancement represented the cortical activities involved in tactile-visual crossmodal association. In the present study, we further hypothesized that the enhancement represented the neural activities in somatosensory and frontal cortices in the crossmodal association. By applying independent component analysis (ICA to the ERP data, we found independent components (ICs located in the medial prefrontal cortex (around the anterior cingulate cortex, ACC and the primary somatosensory cortex (SI. The activity represented by the IC in SI cortex showed enhancement in expectation of the visual stimulus. Such differential activity thus suggested the participation of SI cortex in the task-related crossmodal association. Further, the coherence analysis and the Granger causality spectral analysis of the ICs showed that SI cortex appeared to cooperate with ACC in attention and perception of the tactile stimulus in crossmodal association. The results of our study support with new evidence an important idea in cortical neurophysiology: higher cognitive operations develop from the modality-specific sensory cortices (in the present study, SI cortex that are involved in sensation and perception of various stimuli.

  14. Association between BANK1 polymorphisms and susceptibility to autoimmune diseases: A meta-analysis.

    Science.gov (United States)

    Bae, S-C; Lee, Y H

    2017-03-31

    This study aimed to explore whether BANK1 polymorphisms are associated with susceptibility to autoimmune diseases. We conducted a meta-analysis on the associations between the BANK1 rs10516487, rs3733197, and rs17266594 polymorphisms and autoimmune diseases. Twenty-two articles with a total of 22,684 patients and 36,437 controls were included in the meta-analysis. Meta-analysis revealed a significant association between autoimmune diseases and the BANK1 rs10516487 T allele (OR = 1.161, 95% CI = 1.092-1.275, p = 1.9 × 10-6, heterogeneity pautoimmune diseases and the BANK1 rs3733197 A allele (OR = 1.178, 95% CI = 1.105-1.256, p = 4.5 × 10-7, heterogeneity p = 0.002) and the rs17266594 T allele (OR = 1.189, 95% CI = 1.073-1.315, p = 0.001, heterogeneity pautoimmune disease type revealed an association between both systemic lupus erythematosus and systemic sclerosis and the BANK1 rs10516487 T allele (OR = 1.294, 95% CI = 1.232-1.360, pautoimmune diseases.

  15. Meta-analysis of perceived stress and its association with incident coronary heart disease.

    Science.gov (United States)

    Richardson, Safiya; Shaffer, Jonathan A; Falzon, Louise; Krupka, David; Davidson, Karina W; Edmondson, Donald

    2012-12-15

    Most studies examining potential associations between psychological factors and cardiovascular outcomes have focused on depression or anxiety. The effect of perceived stress on incident coronary heart disease (CHD) has yet to be reviewed systematically. We conducted a systematic review and meta-analysis of the association between perceived stress and incident CHD. Ovid, MEDLINE, and PsycINFO were searched as data sources. Prospective observational cohort studies were selected that measured self-reported perceived stress and assessed incident CHD at ≥6 months. We extracted study characteristics and estimates of the risk of incident CHD associated with high perceived stress versus low perceived stress. We identified 23 potentially relevant articles, of which 6 met our criteria (n = 118,696). Included studies measured perceived stress with validated measurements and nonvalidated simple self-report surveys. Incident CHD was defined as new diagnosis of, hospitalization for, or mortality secondary to CHD. Meta-analysis yielded an aggregate risk ratio of 1.27 (95% confidence interval 1.12 to 1.45) for the magnitude of the relation between high perceived stress and incident CHD. In conclusion, this meta-analysis suggests that high perceived stress is associated with a moderately increased risk of incident CHD. Copyright © 2012 Elsevier Inc. All rights reserved.

  16. Lack of association between factor V Leiden and sepsis: a meta-analysis.

    Science.gov (United States)

    Zhang, Jing; He, Yanxian; Song, Weibing; Lu, Yong; Li, Ping; Zou, Li; Zhong, Wuzhuang

    2015-04-01

    Some studies evaluated the association of factor V Leiden (FVL) with sepsis risk and mortality risk. However, the results were conflicting. Thus, we performed a meta-analysis to address the association between FVL and sepsis. PubMed and EMBASE databases were searched to find relevant studies. Odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were estimated using random effects model. Five case-control studies and 3 cohort studies were included. Overall, no significant association between FVL and sepsis risk was observed (OR = 0.93; 95% CI 0.74-1.15; P = .49). In addition, there was no significant association between FVL and sepsis-related mortality (OR = 1.17; 95% CI 0.73-1.88; P = .52). In the subgroup analysis, no increased sepsis risk and mortality risk were found in caucasian population. This meta-analysis suggested that FVL was not a risk factor for sepsis and sepsis mortality. © The Author(s) 2013.

  17. Prefrontal cortex and somatosensory cortex in tactile crossmodal association: an independent component analysis of ERP recordings.

    Science.gov (United States)

    Ku, Yixuan; Ohara, Shinji; Wang, Liping; Lenz, Fred A; Hsiao, Steven S; Bodner, Mark; Hong, Bo; Zhou, Yong-Di

    2007-08-22

    Our previous studies on scalp-recorded event-related potentials (ERPs) showed that somatosensory N140 evoked by a tactile vibration in working memory tasks was enhanced when human subjects expected a coming visual stimulus that had been paired with the tactile stimulus. The results suggested that such enhancement represented the cortical activities involved in tactile-visual crossmodal association. In the present study, we further hypothesized that the enhancement represented the neural activities in somatosensory and frontal cortices in the crossmodal association. By applying independent component analysis (ICA) to the ERP data, we found independent components (ICs) located in the medial prefrontal cortex (around the anterior cingulate cortex, ACC) and the primary somatosensory cortex (SI). The activity represented by the IC in SI cortex showed enhancement in expectation of the visual stimulus. Such differential activity thus suggested the participation of SI cortex in the task-related crossmodal association. Further, the coherence analysis and the Granger causality spectral analysis of the ICs showed that SI cortex appeared to cooperate with ACC in attention and perception of the tactile stimulus in crossmodal association. The results of our study support with new evidence an important idea in cortical neurophysiology: higher cognitive operations develop from the modality-specific sensory cortices (in the present study, SI cortex) that are involved in sensation and perception of various stimuli.

  18. Risk associated with central catheters for malignant tumor patients: a systematic review and meta-analysis

    Science.gov (United States)

    Lv, Yajuan; Hou, Yong; Pan, Bo; Ma, Yuwan; Li, Paiyun; Yu, Lili; Xu, Deguo; Song, Juanjuan; Shang, Heli; Wang, Hongyan; Tian, Yuan

    2018-01-01

    The risk of venous thrombosis and mortality associated with central catheter (PICC/CICC) for malignant tumor patients is not definite. So, we carried out a systematic review and meta-analysis to evaluate it. Among patients with comparing PICC with CICC, odds ratio (OR) or risk ratio (RR) was calculated with a random effect model meta-analysis. The result of the stratification analysis of 7 studies (PICC vs CICC) supported the theory that CICCs were associated with a decrease in the odds ratio of thrombosis compared with PICCs. 7 of 15 studies provided the information about the compared mortality rate of the patients. The result showed that CICCs were associated with a decrease in the odds ratio of thrombosis compared with PICCs (OR = 0.45, 95% CI:0.32–0.62, p PICCs are associated with a raised risk of deep vein thrombosis, and pharmacological deep vein thrombosis prophylaxis drugs is a beneficial factor in decreasing the incidence of thrombosis, while warfarin may decrease the risk of mortality of malignant tumor patients with CICCs. PMID:29552318

  19. Association between increase in fixed penalties and road safety outcomes: A meta-analysis.

    Science.gov (United States)

    Elvik, Rune

    2016-07-01

    Studies that have evaluated the association between increases in traffic fine amounts (fixed penalties) and changes in compliance with road traffic law or the number of accidents are synthesised by means of meta-analysis. The studies were few and different in many respects. Nine studies were included in the meta-analysis of changes in compliance. Four studies were included in the meta-analysis of changes in accidents. Increasing traffic fines was found to be associated with small changes in the rate of violations. The changes were non-linear. For increases up to about 100%, violations were reduced. For larger increases, no reduction in violations was found. A small reduction in fatal accidents was associated with increased fixed penalties, varying between studies from less than 1-12%. The main pattern of changes in violations was similar in the fixed-effects and random-effects models of meta-analysis, meta-regression and when simple (non-weighted) mean values were computed. The main findings are thus robust, although most of the primary studies did not control very well for potentially confounding factors. Summary estimates of changes in violations or accidents should be treated as provisional and do not necessarily reflect causal relationships. Copyright © 2016 Elsevier Ltd. All rights reserved.

  20. The top skin-associated genes: a comparative analysis of human and mouse skin transcriptomes.

    Science.gov (United States)

    Gerber, Peter Arne; Buhren, Bettina Alexandra; Schrumpf, Holger; Homey, Bernhard; Zlotnik, Albert; Hevezi, Peter

    2014-06-01

    The mouse represents a key model system for the study of the physiology and biochemistry of skin. Comparison of skin between mouse and human is critical for interpretation and application of data from mouse experiments to human disease. Here, we review the current knowledge on structure and immunology of mouse and human skin. Moreover, we present a systematic comparison of human and mouse skin transcriptomes. To this end, we have recently used a genome-wide database of human gene expression to identify genes highly expressed in skin, with no, or limited expression elsewhere - human skin-associated genes (hSAGs). Analysis of our set of hSAGs allowed us to generate a comprehensive molecular characterization of healthy human skin. Here, we used a similar database to generate a list of mouse skin-associated genes (mSAGs). A comparative analysis between the top human (n=666) and mouse (n=873) skin-associated genes (SAGs) revealed a total of only 30.2% identity between the two lists. The majority of shared genes encode proteins that participate in structural and barrier functions. Analysis of the top functional annotation terms revealed an overlap for morphogenesis, cell adhesion, structure, and signal transduction. The results of this analysis, discussed in the context of published data, illustrate the diversity between the molecular make up of skin of both species and grants a probable explanation, why results generated in murine in vivo models often fail to translate into the human.

  1. Association between developmental defects of enamel and dental caries: A systematic review and meta-analysis.

    Science.gov (United States)

    Vargas-Ferreira, F; Salas, M M S; Nascimento, G G; Tarquinio, S B C; Faggion, C M; Peres, M A; Thomson, W M; Demarco, F F

    2015-06-01

    Dental caries is the main problem oral health and it is not well established in the literature if the enamel defects are a risk factor for its development. Studies have reported a potential association between developmental defects enamel (DDE) and dental caries occurrence. We investigated the association between DDE and caries in permanent dentition of children and teenagers. A systematic review was carried out using four databases (Pubmed, Web of Science, Embase, and Science Direct), which were searched from their earliest records until December 31, 2014. Population-based studies assessing differences in dental caries experience according to the presence of enamel defects (and their types) were included. PRISMA guidelines for reporting systematic reviews were followed. Meta-analysis was performed to assess the pooled effect, and meta-regression was carried out to identify heterogeneity sources. From the 2558 initially identified papers, nine studies fulfilled all inclusion criteria after checking the titles, abstracts, references, and complete reading. Seven of them were included in the meta-analysis with random model. A positive association between enamel defects and dental caries was identified; meta-analysis showed that individuals with DDE had higher pooled odds of having dental caries experience [OR 2.21 (95% CI 1.3; 3.54)]. Meta-regression analysis demonstrated that adjustment for sociodemographic factors, countries' socioeconomic status, and bias (quality of studies) explained the high heterogeneity observed. A higher chance of dental caries should be expected among individuals with enamel defects. Copyright © 2015 Elsevier Ltd. All rights reserved.

  2. Imputation-based analysis of association studies: candidate regions and quantitative traits.

    Directory of Open Access Journals (Sweden)

    Bertrand Servin

    2007-07-01

    Full Text Available We introduce a new framework for the analysis of association studies, designed to allow untyped variants to be more effectively and directly tested for association with a phenotype. The idea is to combine knowledge on patterns of correlation among SNPs (e.g., from the International HapMap project or resequencing data in a candidate region of interest with genotype data at tag SNPs collected on a phenotyped study sample, to estimate ("impute" unmeasured genotypes, and then assess association between the phenotype and these estimated genotypes. Compared with standard single-SNP tests, this approach results in increased power to detect association, even in cases in which the causal variant is typed, with the greatest gain occurring when multiple causal variants are present. It also provides more interpretable explanations for observed associations, including assessing, for each SNP, the strength of the evidence that it (rather than another correlated SNP is causal. Although we focus on association studies with quantitative phenotype and a relatively restricted region (e.g., a candidate gene, the framework is applicable and computationally practical for whole genome association studies. Methods described here are implemented in a software package, Bim-Bam, available from the Stephens Lab website http://stephenslab.uchicago.edu/software.html.

  3. Prediction of MicroRNA-Disease Associations Based on Social Network Analysis Methods

    Directory of Open Access Journals (Sweden)

    Quan Zou

    2015-01-01

    Full Text Available MicroRNAs constitute an important class of noncoding, single-stranded, ~22 nucleotide long RNA molecules encoded by endogenous genes. They play an important role in regulating gene transcription and the regulation of normal development. MicroRNAs can be associated with disease; however, only a few microRNA-disease associations have been confirmed by traditional experimental approaches. We introduce two methods to predict microRNA-disease association. The first method, KATZ, focuses on integrating the social network analysis method with machine learning and is based on networks derived from known microRNA-disease associations, disease-disease associations, and microRNA-microRNA associations. The other method, CATAPULT, is a supervised machine learning method. We applied the two methods to 242 known microRNA-disease associations and evaluated their performance using leave-one-out cross-validation and 3-fold cross-validation. Experiments proved that our methods outperformed the state-of-the-art methods.

  4. Temporal associations between weather and headache: analysis by empirical mode decomposition.

    Science.gov (United States)

    Yang, Albert C; Fuh, Jong-Ling; Huang, Norden E; Shia, Ben-Chang; Peng, Chung-Kang; Wang, Shuu-Jiun

    2011-01-31

    Patients frequently report that weather changes trigger headache or worsen existing headache symptoms. Recently, the method of empirical mode decomposition (EMD) has been used to delineate temporal relationships in certain diseases, and we applied this technique to identify intrinsic weather components associated with headache incidence data derived from a large-scale epidemiological survey of headache in the Greater Taipei area. The study sample consisted of 52 randomly selected headache patients. The weather time-series parameters were detrended by the EMD method into a set of embedded oscillatory components, i.e. intrinsic mode functions (IMFs). Multiple linear regression models with forward stepwise methods were used to analyze the temporal associations between weather and headaches. We found no associations between the raw time series of weather variables and headache incidence. For decomposed intrinsic weather IMFs, temperature, sunshine duration, humidity, pressure, and maximal wind speed were associated with headache incidence during the cold period, whereas only maximal wind speed was associated during the warm period. In analyses examining all significant weather variables, IMFs derived from temperature and sunshine duration data accounted for up to 33.3% of the variance in headache incidence during the cold period. The association of headache incidence and weather IMFs in the cold period coincided with the cold fronts. Using EMD analysis, we found a significant association between headache and intrinsic weather components, which was not detected by direct comparisons of raw weather data. Contributing weather parameters may vary in different geographic regions and different seasons.

  5. Association between circadian preference and academic achievement: A systematic review and meta-analysis.

    Science.gov (United States)

    Tonetti, Lorenzo; Natale, Vincenzo; Randler, Christoph

    2015-01-01

    The association between circadian preference and academic achievement has been assessed through a systematic review and meta-analysis. The literature searches retrieved 1647 studies; 31 studies, with a total sample size of 27 309 participants, fulfilled the inclusion criteria and were included in the meta-analysis. With reference to all these 31 studies, before running the meta-analysis, the sign of the correlation between the investigated variables was set in a way that a positive correlation showed that eveningness was related to worse academic performance. The meta-analysis yielded a small overall effect size of 0.143 (CI [0,129; 0,156]) under a fixed effects model (Z = 20.584, p academic performance, both in school pupils and university students; for the first time, it has been shown that such relationship changes over time, being weaker in university students.

  6. Association of sleep bruxism with ceramic restoration failure: A systematic review and meta-analysis.

    Science.gov (United States)

    de Souza Melo, Gilberto; Batistella, Elis Ângela; Bertazzo-Silveira, Eduardo; Simek Vega Gonçalves, Thais Marques; Mendes de Souza, Beatriz Dulcineia; Porporatti, André Luís; Flores-Mir, Carlos; De Luca Canto, Graziela

    2018-03-01

    Ceramic restorations are popular because of their excellent optical properties. However, failures are still a major concern, and dentists are confronted with the following question: is sleep bruxism (SB) associated with an increased frequency of ceramic restoration failures? The purpose of this systematic review and meta-analysis was to assess whether the presence of SB is associated with increased ceramic restoration failure. Observational studies and clinical trials that evaluated the short- and long-term survival rate of ceramic restorations in SB participants were selected. Sleep bruxism diagnostic criteria must have included at least 1 of the following: questionnaire, clinical evaluation, or polysomnography. Seven databases, in addition to 3 nonpeer-reviewed literature databases, were searched. The risk of bias was assessed by using the meta-analysis of statistics assessment and review instrument (MAStARI) checklist. Eight studies were included for qualitative synthesis, but only 5 for the meta-analysis. Three studies were categorized as moderate risk and 5 as high risk of bias. Clinical and methodological heterogeneity across studies were considered high. Increased hazard ratio (HR=7.74; 95% confidence interval [CI]=2.50 to 23.95) and odds ratio (OR=2.52; 95% CI=1.24 to 5.12) were observed considering only anterior ceramic veneers. Nevertheless, limited data from the meta-analysis and from the restricted number of included studies suggested that differences in the overall odds of failure concerning SB and other types of ceramic restorations did not favor or disfavor any association (OR=1.10; 95% CI=0.43 to 2.8). The overall quality of evidence was considered very low according to the GRADE criteria. Within the limitations of this systematic review, the overall result from the meta-analysis did not favor any association between SB and increased odds of failure for ceramic restorations. Copyright © 2017 Editorial Council for the Journal of Prosthetic Dentistry

  7. A genomic background based method for association analysis in related individuals.

    Directory of Open Access Journals (Sweden)

    Najaf Amin

    Full Text Available BACKGROUND: Feasibility of genotyping of hundreds and thousands of single nucleotide polymorphisms (SNPs in thousands of study subjects have triggered the need for fast, powerful, and reliable methods for genome-wide association analysis. Here we consider a situation when study participants are genetically related (e.g. due to systematic sampling of families or because a study was performed in a genetically isolated population. Of the available methods that account for relatedness, the Measured Genotype (MG approach is considered the 'gold standard'. However, MG is not efficient with respect to time taken for the analysis of genome-wide data. In this context we proposed a fast two-step method called Genome-wide Association using Mixed Model and Regression (GRAMMAR for the analysis of pedigree-based quantitative traits. This method certainly overcomes the drawback of time limitation of the measured genotype (MG approach, but pays in power. One of the major drawbacks of both MG and GRAMMAR, is that they crucially depend on the availability of complete and correct pedigree data, which is rarely available. METHODOLOGY: In this study we first explore type 1 error and relative power of MG, GRAMMAR, and Genomic Control (GC approaches for genetic association analysis. Secondly, we propose an extension to GRAMMAR i.e. GRAMMAR-GC. Finally, we propose application of GRAMMAR-GC using the kinship matrix estimated through genomic marker data, instead of (possibly missing and/or incorrect genealogy. CONCLUSION: Through simulations we show that MG approach maintains high power across a range of heritabilities and possible pedigree structures, and always outperforms other contemporary methods. We also show that the power of our proposed GRAMMAR-GC approaches to that of the 'gold standard' MG for all models and pedigrees studied. We show that this method is both feasible and powerful and has correct type 1 error in the context of genome-wide association analysis

  8. A genomic background based method for association analysis in related individuals.

    Science.gov (United States)

    Amin, Najaf; van Duijn, Cornelia M; Aulchenko, Yurii S

    2007-12-05

    Feasibility of genotyping of hundreds and thousands of single nucleotide polymorphisms (SNPs) in thousands of study subjects have triggered the need for fast, powerful, and reliable methods for genome-wide association analysis. Here we consider a situation when study participants are genetically related (e.g. due to systematic sampling of families or because a study was performed in a genetically isolated population). Of the available methods that account for relatedness, the Measured Genotype (MG) approach is considered the 'gold standard'. However, MG is not efficient with respect to time taken for the analysis of genome-wide data. In this context we proposed a fast two-step method called Genome-wide Association using Mixed Model and Regression (GRAMMAR) for the analysis of pedigree-based quantitative traits. This method certainly overcomes the drawback of time limitation of the measured genotype (MG) approach, but pays in power. One of the major drawbacks of both MG and GRAMMAR, is that they crucially depend on the availability of complete and correct pedigree data, which is rarely available. In this study we first explore type 1 error and relative power of MG, GRAMMAR, and Genomic Control (GC) approaches for genetic association analysis. Secondly, we propose an extension to GRAMMAR i.e. GRAMMAR-GC. Finally, we propose application of GRAMMAR-GC using the kinship matrix estimated through genomic marker data, instead of (possibly missing and/or incorrect) genealogy. Through simulations we show that MG approach maintains high power across a range of heritabilities and possible pedigree structures, and always outperforms other contemporary methods. We also show that the power of our proposed GRAMMAR-GC approaches to that of the 'gold standard' MG for all models and pedigrees studied. We show that this method is both feasible and powerful and has correct type 1 error in the context of genome-wide association analysis in related individuals.

  9. Stepwise Distributed Open Innovation Contests for Software Development: Acceleration of Genome-Wide Association Analysis.

    Science.gov (United States)

    Hill, Andrew; Loh, Po-Ru; Bharadwaj, Ragu B; Pons, Pascal; Shang, Jingbo; Guinan, Eva; Lakhani, Karim; Kilty, Iain; Jelinsky, Scott A

    2017-05-01

    The association of differing genotypes with disease-related phenotypic traits offers great potential to both help identify new therapeutic targets and support stratification of patients who would gain the greatest benefit from specific drug classes. Development of low-cost genotyping and sequencing has made collecting large-scale genotyping data routine in population and therapeutic intervention studies. In addition, a range of new technologies is being used to capture numerous new and complex phenotypic descriptors. As a result, genotype and phenotype datasets have grown exponentially. Genome-wide association studies associate genotypes and phenotypes using methods such as logistic regression. As existing tools for association analysis limit the efficiency by which value can be extracted from increasing volumes of data, there is a pressing need for new software tools that can accelerate association analyses on large genotype-phenotype datasets. Using open innovation (OI) and contest-based crowdsourcing, the logistic regression analysis in a leading, community-standard genetics software package (PLINK 1.07) was substantially accelerated. OI allowed us to do this in developed through distributed innovation, we achieved an end-to-end speedup of 591-fold for a data set size of 6678 subjects by 645 863 variants, compared to PLINK 1.07's logistic regression. This represents a reduction in run time from 4.8 hours to 29 seconds. Accelerated logistic regression code developed in this project has been incorporated into the PLINK2 project. Using iterative competition-based OI, we have developed a new, faster implementation of logistic regression for genome-wide association studies analysis. We present lessons learned and recommendations on running a successful OI process for bioinformatics. © The Author 2017. Published by Oxford University Press.

  10. Association of TNF-alpha G-308A gene polymorphism with depression: a meta-analysis

    Directory of Open Access Journals (Sweden)

    Shin KH

    2017-10-01

    Full Text Available Kwang-Hee Shin,1 Hyeon Cheol Jeong,1 Dong-Hee Choi,2 Sung Nyun Kim,3 Tae-Eun Kim4 1College of Pharmacy, Research Institute of Pharmaceutical Sciences, Kyungpook National University, Daegu, 2Department of Medical Science, Konkuk University School of Medicine, 3Department of Psychiatry, Seoul Medical Center, 4Department of Clinical Pharmacology, Konkuk University Medical Center, Seoul, Republic of Korea Background: Although many studies have investigated the association of a single nucleotide polymorphism in TNF-α G-308A gene with depression, their association is still controversial. To clarify this, we performed a meta-analysis.Method: Studies related to TNF-α G-308A and depression were retrieved from PubMed, Medline, Embase, and Scopus (up to April 18, 2017. The odds ratios (ORs and 95% confidence intervals (CIs were estimated in the models of allele comparison (G vs A, homozygote comparison (GG vs AA, dominant (GG vs GA + AA, and recessive (GG + GA vs AA to estimate the strength of the associations.Results: A total of 10 case–control studies were included in this meta-analysis. Overall, no significant association between TNF-α G-308A and depression was found (G vs A: OR [95% CI] =1.09 [0.92, 1.29]; GG vs AA: 1.24 [0.71, 2.15]; GG vs GA + AA: 1.01 [0.76, 1.35]; GG + GA vs AA: 1.22 [0.70, 2.13]. In subgroup analyses by ethnicity or age group, no statistically significant association between TNF-α G-308A polymorphisms and depression was shown.Conclusion: This meta-analysis revealed that TNF-α G-308A polymorphism is not associated with susceptibility to depression. Keywords: TNF-α G-308A, rs1800629, genetic polymorphism, depressive disorder

  11. Genome-wide association study and meta-analysis of intraocular pressure

    Science.gov (United States)

    Ozel, A. Bilge; Reed, David M.; Nika, Melisa; Schmidt, Caroline M.; Akbari, Sara; Scott, Kathleen; Rozsa, Frank; Pawar, Hemant; Musch, David C.; Lichter, Paul R.; Gaasterland, Doug; Branham, Kari; Gilbert, Jesse; Garnai, Sarah J.; Chen, Wei; Othman, Mohammad; Heckenlively, John; Swaroop, Anand; Abecasis, Gonçalo; Friedman, David S.; Zack, Don; Ashley-Koch, Allison; Ulmer, Megan; Kang, Jae H.; Liu, Yutao; Yaspan, Brian L.; Haines, Jonathan; Allingham, R. Rand; Hauser, Michael A.; Pasquale, Louis; Wiggs, Janey; Richards, Julia E.

    2014-01-01

    Elevated intraocular pressure (IOP) is a major risk factor for glaucoma and is influenced by genetic and environmental factors. Recent genome-wide association studies (GWAS) reported associations with IOP at TMCO1 and GAS7, and with primary open-angle glaucoma (POAG) at CDKN2B-AS1, CAV1/CAV2, and SIX1/SIX6. To identify novel genetic variants and replicate the published findings, we performed GWAS and meta-analysis of IOP in >6,000 subjects of European ancestry collected in three datasets: the NEI Glaucoma Human genetics collaBORation, GLAUcoma Genes and ENvironment study, and a subset of the Age-related Macular Degeneration-Michigan, Mayo, AREDS and Pennsylvania study. While no signal achieved genome-wide significance in individual datasets, a meta-analysis identified significant associations with IOP at TMCO1 (rs7518099-G, p = 8.0 × 10−8). Focused analyses of five loci previously reported for IOP and/or POAG, i.e., TMCO1, CDKN2B-AS1, GAS7, CAV1/CAV2, and SIX1/SIX6, revealed associations with IOP that were largely consistent across our three datasets, and replicated the previously reported associations in both effect size and direction. These results confirm the involvement of common variants in multiple genomic regions in regulating IOP and/or glaucoma risk. PMID:24002674

  12. Associations between sedentary behaviour and physical activity in children and adolescents: a meta-analysis

    Science.gov (United States)

    Pearson, N; Braithwaite, R E; Biddle, S J H; van Sluijs, E M F; Atkin, A J

    2014-01-01

    Physical activity and sedentary behaviour are associated with metabolic and mental health during childhood and adolescence. Understanding the inter-relationships between these behaviours will help to inform intervention design. This systematic review and meta-analysis synthesized evidence from observational studies describing the association between sedentary behaviour and physical activity in young people (physical activity. One hundred sixty-three papers were included in the meta-analysis, from which data on 254 independent samples was extracted. In the summary meta-analytic model (k = 230), a small, but significant, negative association between sedentary behaviour and physical activity was observed (r = −0.108, 95% confidence interval [CI] = −0.128, −0.087). In moderator analyses, studies that recruited smaller samples (n physical activity; r = −0.233, 95% CI = −0.330, −0.137) or were assessed to be of higher methodological quality (r = −0.176, 95% CI = −0.215, −0.138) reported stronger associations, although effect sizes remained small. The association between sedentary behaviour and physical activity in young people is negative, but small, suggesting that these behaviours do not directly displace one another. PMID:24844784

  13. Association Between Sarcopenia and Cognitive Impairment: A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Chang, Ke-Vin; Hsu, Tsai-Hsuan; Wu, Wei-Ting; Huang, Kuo-Chin; Han, Der-Sheng

    2016-12-01

    Sarcopenia, a gradual loss of muscle mass and function, has been associated with poor health outcomes. Its correlation with another age-related degenerative process, impaired cognition, remains uncertain. This meta-analysis aimed to determine whether there is an association between sarcopenia and cognitive impairment. PubMed and Scopus were searched for observational studies that investigated the association between sarcopenia and cognitive dysfunction. Participants' demographics and measurements, definition of sarcopenia, and tools for evaluating cognitive function were retrieved. The correlations between sarcopenia and cognitive impairment were expressed as crude and adjusted odds ratios with 95% confidence intervals (CIs). Seven cross-sectional studies comprising 5994 participants were included. The crude and adjusted odds ratios were 2.926 (95% CI, 2.297-3.728) and 2.246 (95% CI, 1.210-4.168), respectively. The subgroup analysis showed that different target populations and sex specificity did not significantly modify the association, whereas the tools for evaluating cognitive function and modalities for measuring body composition did. Sarcopenia was independently associated with cognitive impairment. Future cohort studies are warranted to clarify the causal correlation. The inclusion of relevant biomarkers and functional measurements is also recommended to elucidate the underlying biological mechanism. Copyright © 2016 AMDA – The Society for Post-Acute and Long-Term Care Medicine. Published by Elsevier Inc. All rights reserved.

  14. Genome-Wide Association Analysis of Diverse Soybean Genotypes Reveals Novel Markers for Nitrogen Traits

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    Arun Prabhu Dhanapal

    2015-11-01

    Full Text Available Nitrogen is a primary plant nutrient that plays a major role in achieving maximum economic yield. Insufficient availability most often limits soybean [ (L. Merr.] crop growth. Symbiotic N fixation in soybean is highly sensitive to limited water availability, and breeding for reduced N fixation sensitivity to drought is considered an important objective to improve yields under drought. The objective of this study was to identify single nucleotide polymorphism (SNP markers associated with N traits. A collection of 373 diverse soybean genotypes were grown in four field environments (2 yr and two locations and characterized for N derived from atmosphere (Ndfa, N concentration ([N], and C/N ratio. The population structure of 373 soybean genotypes was assessed based on 31,145 SNPs and genome-wide association analysis using a unified mixed model identified SNPs associated with Ndfa, [N], and C/N ratio. Although the Ndfa, [N], and C/N ratio values were significantly different between the two locations in both years, results were consistent among genotypes across years and locations. While numerous SNPs were identified by association analysis for each trait in only one of the four environments, 17, 19, and 24 SNPs showed a significant association with Ndfa, [N], and C/N ratio, respectively, in at least two environments as well as with the average across all four environments. These markers represent an important resource for pyramiding favorable alleles for drought tolerance and for identifying extremes for comparative physiological studies.

  15. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

    OpenAIRE

    Felix, Janine; Bradfield, Jonathan; Monnereau, C.; Valk, Ralf; Stergiakouli, Evie; Chesi, Alessandra; Gaillard, Romy; Feenstra, Bjarke; Thiering, Elisabeth; Kreiner-Møller, Eskil; Mahajan, Anubha; Niina Pitkänen; Joro, Raimo; Cavadino, Alana; Huikari, Ville

    2016-01-01

    textabstractA large number of genetic loci are associated with adult body mass index. However, the genetics of childhood body mass index are largely unknown.We performed a meta-analysis of genome-wide association studies of childhood body mass index, using sex- and age-adjusted standard deviation scores.We included 35 668 children from 20 studies in the discovery phase and 11 873 children from 13 studies in the replication phase. In total, 15 loci reached genome-wide significance (P-value < 5...

  16. Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci

    Science.gov (United States)

    Melum, Espen; Franke, Andre; Schramm, Christoph; Weismüller, Tobias J; Gotthardt, Daniel Nils; Offner, Felix A; Juran, Brian D; Laerdahl, Jon K; Labi, Verena; Björnsson, Einar; Weersma, Rinse K; Henckaerts, Liesbet; Teufel, Andreas; Rust, Christian; Ellinghaus, Eva; Balschun, Tobias; Boberg, Kirsten Muri; Ellinghaus, David; Bergquist, Annika; Sauer, Peter; Ryu, Euijung; Hov, Johannes Roksund; Wedemeyer, Jochen; Lindkvist, Björn; Wittig, Michael; Porte, Robert J; Holm, Kristian; Gieger, Christian; Wichmann, H-Erich; Stokkers, Pieter; Ponsioen, Cyriel Y; Runz, Heiko; Stiehl, Adolf; Wijmenga, Cisca; Sterneck, Martina; Vermeire, Severine; Beuers, Ulrich; Villunger, Andreas; Schrumpf, Erik; Lazaridis, Konstantinos N; Manns, Michael P; Schreiber, Stefan; Karlsen, Tom H

    2015-01-01

    Primary sclerosing cholangitis (PSC) is a chronic bile duct disease affecting 2.4–7.5% of individuals with inflammatory bowel disease. We performed a genome-wide association analysis of 2,466,182 SNPs in 715 individuals with PSC and 2,962 controls, followed by replication in 1,025 PSC cases and 2,174 controls. We detected non-HLA associations at rs3197999 in MST1 and rs6720394 near BCL2L11 (combined P = 1.1 × 10−16 and P = 4.1 × 10−8, respectively). PMID:21151127

  17. Association of TLR2 and TLR4 polymorphisms with risk of cancer: a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Longbiao Zhu

    Full Text Available BACKGROUNDS: The activation of Toll-like receptors (TLRs may be an important event in the immune evasion of tumor cell. Recently, numerous studies have investigated the associations between TLR2 -196 to -174 del and two SNPs of TLR4 (rs4986790 and rs4986791 and the susceptibility to different types of cancer; however, the results remain conflicting. The aim of this study was to assess the association between TLR2 and TLR4 polymorphisms and cancer risk in a meta-analysis with eligible published studies. METHODOLOGY/PRINCIPLE FINDINGS: A dataset composed of 14627 cases and 17438 controls from 34 publications were included in a meta-analysis to evaluate the association between overall cancer risk or cancer-specific risk and three SNPs of TLRs (TLR2 -196 to -174 del, TLR4 rs4986790 and rs4986791. The results showed that all of these three polymorphisms were significantly associated with the increased cancer risk (dominant model: OR = 1.64, 95% CI: 1.04-2.60 for TLR2 -196 to -174 del; OR = 1.19, 95% CI: 1.01-1.41 for TLR4 rs4986790; and OR = 1.47, 95% CI: 1.120-1.80 for TLR4 rs4986791; respectively. In stratified analysis, we found the effect of TLR2 -196 to -174 del on cancer risk remained significant in the subgroup of Caucasians and South Asians, but not in East Asians. However, the association between rs4986791 and cancer risk was significant in both South Asians and East Asians, but not in Caucasians. Furthermore, the association between rs4986790 and cancer risk was statistically significant in digestive cancers (dominant model: OR = 1.76, 95% CI: 1.13-2.73 and female-specific cancers (dominant model: OR = 1.50, 95% CI: 1.16-1.94. However, no significant association with risk of digestive system cancers was observed for TLR2 -196 to -174 del and TLR4 rs4986791. CONCLUSIONS/SIGNIFICANCE: This meta-analysis presented additional evidence for the association between TLR2 and TLR4 polymorphisms and cancer risk. Further well

  18. Association among Dietary Flavonoids, Flavonoid Subclasses and Ovarian Cancer Risk: A Meta-Analysis

    Science.gov (United States)

    You, Ruxu; Yang, Yu; Liao, Jing; Chen, Dongsheng; Yu, Lixiu

    2016-01-01

    Background Previous studies have indicated that intake of dietary flavonoids or flavonoid subclasses is associated with the ovarian cancer risk, but presented controversial results. Therefore, we conducted a meta-analysis to derive a more precise estimation of these associations. Methods We performed a search in PubMed, Google Scholar and ISI Web of Science from their inception to April 25, 2015 to select studies on the association among dietary flavonoids, flavonoid subclasses and ovarian cancer risk. The information was extracted by two independent authors. We assessed the heterogeneity, sensitivity, publication bias and quality of the articles. A random-effects model was used to calculate the pooled risk estimates. Results Five cohort studies and seven case-control studies were included in the final meta-analysis. We observed that intake of dietary flavonoids can decrease ovarian cancer risk, which was demonstrated by pooled RR (RR = 0.82, 95% CI = 0.68–0.98). In a subgroup analysis by flavonoid subtypes, the ovarian cancer risk was also decreased for isoflavones (RR = 0.67, 95% CI = 0.50–0.92) and flavonols (RR = 0.68, 95% CI = 0.58–0.80). While there was no compelling evidence that consumption of flavones (RR = 0.86, 95% CI = 0.71–1.03) could decrease ovarian cancer risk, which revealed part sources of heterogeneity. The sensitivity analysis indicated stable results, and no publication bias was observed based on the results of Funnel plot analysis and Egger’s test (p = 0.26). Conclusions This meta-analysis suggested that consumption of dietary flavonoids and subtypes (isoflavones, flavonols) has a protective effect against ovarian cancer with a reduced risk of ovarian cancer except for flavones consumption. Nevertheless, further investigations on a larger population covering more flavonoid subclasses are warranted. PMID:26960146

  19. Maternal homocysteine in pregnancy and offspring birthweight: epidemiological associations and Mendelian randomization analysis

    Science.gov (United States)

    Yajnik, Chittaranjan S; Chandak, Giriraj R; Joglekar, Charudatta; Katre, Prachi; Bhat, Dattatray S; Singh, Suraj N; Janipalli, Charles S; Refsum, Helga; Krishnaveni, Ghattu; Veena, Sargoor; Osmond, Clive; Fall, Caroline HD

    2014-01-01

    Background: Disturbed one-carbon (1-C) metabolism in the mother is associated with poor fetal growth but causality of this relationship has not been established. Methods: We studied the association between maternal total homocysteine and offspring birthweight in the Pune Maternal Nutrition Study (PMNS, Pune, India) and Parthenon Cohort Study (Mysore, India). We tested for evidence of causality within a Mendelian randomization framework, using a methylenetetrahydrofolatereductase (MTHFR) gene variant rs1801133 (earlier known as 677C→T) by instrumental variable and triangulation analysis, separately and using meta-analysis. Results: Median (IQR) homocysteine concentration and mean (SD) birthweight were 8.6 µmol/l (6.7,10.8) and 2642 g (379) in the PMNS and 6.0 µmol/l (5.1,7.1) and 2871 g (443) in the Parthenon study. Offspring birthweight was inversely related to maternal homocysteine concentration—PMNS: –22 g/SD [95% confidence interval (CI): (–50, 5), adjusted for gestational age and offspring gender]; Parthenon: –57 g (–92, –21); meta-analysis: –40 g (–62, –17)]. Maternal risk genotype at rs1801133 predicted higher homocysteine concentration [PMNS: 0.30 SD/allele (0.14, 0.46); Parthenon: 0.21 SD (0.02, 0.40); meta-analysis: 0.26 SD (0.14, 0.39)]; and lower birthweight [PMNS: –46 g (–102, 11, adjusted for gestational age, offspring gender and rs1801133 genotype); Parthenon: –78 g (–170, 15); meta-analysis: –61 g (–111, –10)]. Instrumental variable and triangulation analysis supported a causal association between maternal homocysteine concentration and offspring birthweight. Conclusions: Our findings suggest a causal role for maternal homocysteine (1-C metabolism) in fetal growth. Reducing maternal homocysteine concentrations may improve fetal growth. PMID:25052622

  20. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies.

    Science.gov (United States)

    Skol, Andrew D; Scott, Laura J; Abecasis, Gonçalo R; Boehnke, Michael

    2006-02-01

    Genome-wide association is a promising approach to identify common genetic variants that predispose to human disease. Because of the high cost of genotyping hundreds of thousands of markers on thousands of subjects, genome-wide association studies often follow a staged design in which a proportion (pi(samples)) of the available samples are genotyped on a large number of markers in stage 1, and a proportion (pi(samples)) of these markers are later followed up by genotyping them on the remaining samples in stage 2. The standard strategy for analyzing such two-stage data is to view stage 2 as a replication study and focus on findings that reach statistical significance when stage 2 data are considered alone. We demonstrate that the alternative strategy of jointly analyzing the data from both stages almost always results in increased power to detect genetic association, despite the need to use more stringent significance levels, even when effect sizes differ between the two stages. We recommend joint analysis for all two-stage genome-wide association studies, especially when a relatively large proportion of the samples are genotyped in stage 1 (pi(samples) >or= 0.30), and a relatively large proportion of markers are selected for follow-up in stage 2 (pi(markers) >or= 0.01).

  1. Association between maternal antidepressant use during pregnancy and autism spectrum disorder: an updated meta-analysis.

    Science.gov (United States)

    Zhou, Xi-Hong; Li, Yong-Jiang; Ou, Jian-Jun; Li, Ya-Min

    2018-01-01

    Studies have investigated the risk of autism spectrum disorder (ASD) in children exposed in utero to antidepressant, with inconsistent results. Given the substantial public health implications on this topic, here, we presented an updated meta-analysis of the association between maternal antidepressant use during pregnancy and ASD. Cochrane Library, EMBASE, PsycINFO, and PubMed databases were systematically searched. A random effects model was used to pool the adjusted relative risk (RR) for cohort studies and the adjusted odds ratio (OR) for case-control studies as well as their corresponding 95% confidence intervals (CIs). Meta-analysis restricted to sibling studies was also conducted. Publication bias was systematically assessed. Fourteen studies were identified (eight cohort studies and six case-control studies). Pooled adjusted RR for cohort studies ( n  = 2,839,980) was 1.13 (0.93-1.39) showed a non-significant association; while two studies were potentially missing from the test of publication bias, filled estimates also showed a non-significant association (filled RR 0.97, 95% CI 0.79-1.19). Pooled OR was 1.51 (1.15-1.99) for case-control studies ( n  = 117,737) showed a significant association; two studies were potentially missing; however, the filled estimates suggested a non-significant association (filled OR 1.26, 95% CI 0.98-1.62). Analyses restricted to sibling studies also showed a non-significant association (RR 0.99, 95% CI 0.81-1.22). In summary, we did not evidence a significant association between maternal antidepressant use during pregnancy and ASD.

  2. Factors Associated with Variations in Population HIV Prevalence across West Africa: Findings from an Ecological Analysis.

    Directory of Open Access Journals (Sweden)

    Holly J Prudden

    Full Text Available Population HIV prevalence across West Africa varies substantially. We assess the national epidemiological and behavioural factors associated with this.National, urban and rural data on HIV prevalence, the percentage of younger (15-24 and older (25-49 women and men reporting multiple (2+ partners in the past year, HIV prevalence among female sex workers (FSWs, men who have bought sex in the past year (clients, and ART coverage, were compiled for 13 countries. An Ecological analysis using linear regression assessed which factors are associated with national variations in population female and male HIV prevalence, and with each other.National population HIV prevalence varies between 0 4-2 9% for men and 0 4-5.6% for women. ART coverage ranges from 6-23%. National variations in HIV prevalence are not shown to be associated with variations in HIV prevalence among FSWs or clients. Instead they are associated with variations in the percentage of younger and older males and females reporting multiple partners. HIV prevalence is weakly negatively associated with ART coverage, implying it is not increased survival that is the cause of variations in HIV prevalence. FSWs and younger female HIV prevalence are associated with client population sizes, especially older men. Younger female HIV prevalence is strongly associated with older male and female HIV prevalence.In West Africa, population HIV prevalence is not significantly higher in countries with high FSW HIV prevalence. Our analysis suggests, higher prevalence occurs where more men buy sex, and where a higher percentage of younger women, and older men and women have multiple partnerships. If a sexual network between clients and young females exists, clients may potentially bridge infection to younger females. HIV prevention should focus both on commercial sex and transmission between clients and younger females with multiple partners.

  3. Association between calcium channel blockers and breast cancer: a meta-analysis of observational studies.

    Science.gov (United States)

    Chen, Qi; Zhang, Qianwen; Zhong, Fei; Guo, Shiwei; Jin, Zhichao; Shi, Wentao; Chen, Chen; He, Jia

    2014-07-01

    To investigate the association between calcium channel blockers (CCBs) and increased risk of breast cancer. Using terms related to breast cancer and CCB, we searched PubMed, Embase, and Web of Science for studies on CCB use and the associated risk of breast cancer published before July 2013. Two evaluators independently selected observational studies on the basis of predetermined selection criteria, and 11 studies were included in the meta-analysis. Summary estimates were obtained using fixed-effects or random-effects models as appropriate, and subgroup analyses, sensitivity analyses, and publication bias tests were performed. Our meta-analysis consisted of 11 studies, including four case-controls, two nested case-controls, and five cohort studies. The odds ratios (ORs) of the association between CCB use and breast cancer were 1.11 (95% confidence interval [CI] 0.93-1.33) overall, 1.04 (95%CI 0.92-1.18) for prospective studies, and 1.33 (95%CI 0.79-2.25) for retrospective studies. There was a positive association between immediate-release CCB use and risk of breast cancer (OR 1.88, 95%CI 1.37-2.60). There is no evidence that CCB use is associated with an increased risk of breast cancer. However, there may be a positive association between immediate-release CCB use and risk of breast cancer, but given the current preference for use of sustained-release CCB, the potential clinical impact of this association is limited. Copyright © 2014 John Wiley & Sons, Ltd.

  4. GENOMIC ANALYSIS OF PLANT-ASSOCIATED BACTERIA AND THEIR POTENTIAL IN ENHANCING PHYTOREMEDIATION EFFICIENCY

    Directory of Open Access Journals (Sweden)

    Artur Piński

    2017-07-01

    Full Text Available Phytoremediation is an emerging technology that uses plants in order to cleanup pollutants including xenobiotics and heavy metals from soil, water and air. Inoculation of plants with plant growth promoting endophytic and rhizospheric bacteria can enhance efficiency of phytoremediation. Genomic analysis of four plant-associated strains belonging to the Stenotrophomonas maltophilia species revealed the presence of genes encoding proteins involved in plant growth promotion, biocontrol of phytopathogens, biodegradation of xenobiotics, heavy metals resistance and plant-bacteria-environment interaction. The results of this analysis suggest great potential of bacteria belonging to Stenotrophomonas maltophilia species in enhancing phytoremediation efficiency.

  5. Analysis of Hazards Associated with a Process Involving Uranium Metal and Uranium Hydride Powders

    Energy Technology Data Exchange (ETDEWEB)

    Bullock, J.S.

    2000-05-01

    An analysis of the reaction chemistry and operational factors associated with processing uranium and uranium hydride powders is presented, focusing on a specific operation in the Development Division which was subjected to the Job Hazard Analysis (JHA) process. Primary emphasis is on the thermodynamic factors leading to pyrophoricity in common atmospheres. The discussion covers feed powders, cold-pressed and hot-pressed materials, and stray material resulting from the operations. The sensitivity of the various forms of material to pyrophoricity in common atmospheres is discussed. Operational recommendations for performing the work described are given.

  6. Gene set-based analysis of polymorphisms: finding pathways or biological processes associated to traits in genome-wide association studies

    Science.gov (United States)

    Medina, Ignacio; Montaner, David; Bonifaci, Nuria; Pujana, Miguel Angel; Carbonell, José; Tarraga, Joaquin; Al-Shahrour, Fatima; Dopazo, Joaquin

    2009-01-01

    Genome-wide association studies have become a popular strategy to find associations of genes to traits of interest. Despite the high-resolution available today to carry out genotyping studies, the success of its application in real studies has been limited by the testing strategy used. As an alternative to brute force solutions involving the use of very large cohorts, we propose the use of the Gene Set Analysis (GSA), a different analysis strategy based on testing the association of modules of functionally related genes. We show here how the Gene Set-based Analysis of Polymorphisms (GeSBAP), which is a simple implementation of the GSA strategy for the analysis of genome-wide association studies, provides a significant increase in the power testing for this type of studies. GeSBAP is freely available at http://bioinfo.cipf.es/gesbap/ PMID:19502494

  7. Association of antipsychotic polypharmacy with health service cost: a register-based cost analysis

    DEFF Research Database (Denmark)

    Baandrup, Lone; Sørensen, Jan; Lublin, Henrik Kai Francis

    2012-01-01

    (2007: 25% higher costs; 2008: 17% higher costs) when adjusting for potential confounders and risk factors. A subgroup analysis suggested that the excessive costs associated with antipsychotic polypharmacy were partly accounted for by the functional level of the patients. CONCLUSION: The results......OBJECTIVE: To investigate the association of antipsychotic polypharmacy in schizophrenia with cost of primary and secondary health service use. METHOD: Comparative analysis of health service cost for patients prescribed antipsychotic polypharmacy versus antipsychotic monotherapy. Resource...... utilisation and costs were described using central Danish registers for a 2 year period (2007-2008). We included patients attached to one of two Danish psychiatric referral centres in 1 January 2008 and/or 1 January 2009. Their prescribed treatment with either antipsychotic polypharmacy or monotherapy...

  8. The association of Raynaud syndrome with thromboangiitis obliterans--a meta-analysis.

    Science.gov (United States)

    Hartmann, Peter; Mohokum, Melvin; Schlattmann, Peter

    2012-05-01

    Thromboangiitis obliterans (TAO) has traditionally been included among the diseases associated with Raynaud syndrome (RS). The prevalence of RS in patients with TAO is not well defined. The objective of this meta-analysis is to assess the prevalence of RS in patients with TAO. A literature search was performed for the studies dealing with RS and TAO. The studies provided sufficient data to estimate the prevalence of RS in patients with TAO. A total of 8 eligible studies, contributing data on 851 patients, were included in this meta-analysis. For TAO, a pooled prevalence of 28.1% and 95% confidence interval ([CI] = 0.158, 0.423) were obtained. Statistically publication bias was not present (P = .232). Despite some heterogeneity, there is a possible indication of an association between RS and patients with TAO.

  9. Meta-analysis of the association between ecstasy use and risky sexual behavior.

    Science.gov (United States)

    Hittner, James B; Schachne, Elana R

    2012-07-01

    A random-effects meta-analysis was conducted to examine the association between ecstasy use and risky sexual behavior. Analysis of 17 studies revealed a small to moderate sized effect (mean weighted r=0.211, 95% CI: 0.085-0.336). Random-effects homogeneity testing was non-significant, thus formal moderator analyses were not performed. Moreover, numerical and visual diagnostics suggested that publication bias was not a concern. It is hoped that the present meta-analytic findings and recommendations will encourage investigators to broaden their research methodologies and will stimulate new insights into the association between ecstasy use and risky sexual behavior. Copyright © 2012 Elsevier Ltd. All rights reserved.

  10. Synthetic analysis of associations between IL-10 polymorphisms and skin cancer risk.

    Science.gov (United States)

    Zhao, Hongbo; Yang, Jiaoli; Yu, Zhenzhen; Shen, Hui; Huang, Xinlin; Zhang, Mi; Long, Teng; Cailing, A; Wang, Wenhui

    2018-01-23

    The current study was designed to quantitatively summarize the evidence for the strength of the associations between common IL-10 functional polymorphisms and skin cancer risk. Relevant publications concerning the associations between common IL-10 functional polymorphisms(-1082G>A, -819C>T and -592C>A) and skin cancer were retrieved by a comprehensive electronic literature search in PubMed, Web of Science, EBSCO, Embase, China National Knowledge Infrastructure, Wanfang, Chinese Biomedical Database (CBM). The odds ratio (OR) and 95% confidence interval (CI) were utilized to assess the strength of the relationship. A total of 26 studies including 4090 cases and 4133 controls (-1082G>A, 10 studies with 1809 cases and 1830 controls; -819C>T, 7 studies with 862 cases and 957 controls; -592C>A, 9 studies with 1419 cases and 1346 controls) were enrolled in the meta-analysis. Overall, the results revealed a borderline decreased risk of skin cancer in heterozygote model (OR = 0.82, 95CI = 0.67-1.00, p = 0.05). The subgroup analysis also presented similar association for non-melanoma skin cancer in heterozygote model (OR = 0.67, 95CI = 0.50-0.91, p = 0.01). Moreover, the further analysis based on the histological type of non-melanoma skin cancer indicated a significantly decreased risk of BCC in allele model (OR = 0.67, 95% CI = 0.50-0.91, p = 0.02) and dominant model (OR = 0.68, 95% CI = 0.48-0.98, p = 0.04). However, neither overall analysis nor subgroup analysis based on cancer subtype revealed a significant association of -1082G>A or -592C>A polymorphisms with skin cancer. The present study suggested a potential association between IL-10 -819C>T polymorphism and decreased risk of skin cancer, but a lack of association for -1082G>A and -592C>A polymorphisms. Further invalidation is urgently needed.

  11. Genetic association of telomere length with hepatocellular carcinoma risk: A Mendelian randomization analysis.

    Science.gov (United States)

    Cheng, Yue; Yu, Chengxiao; Huang, Mingtao; Du, Fangzhi; Song, Ci; Ma, Zijian; Zhai, Xiangjun; Yang, Yuan; Liu, Jibin; Bei, Jin-Xin; Jia, Weihua; Jin, Guangfu; Li, Shengping; Zhou, Weiping; Liu, Jianjun; Dai, Juncheng; Hu, Zhibin

    2017-10-01

    Observational studies show an association between telomere length and Hepatocellular carcinoma (HCC) risk, but the relationship is controversial. Particularly, it remains unclear whether the association is due to confounding or biases inherent in conventional epidemiological studies. Here, we applied Mendelian randomization approach to evaluate whether telomere length is causally associated with HCC risk. Individual-level data were from HBV-related HCC Genome-wide association studies (1,538 HBV positive HCC patients and 1,465 HBV positive controls). Genetic risk score, as proxy for actual measured telomere length, derived from nine telomere length-associated genetic variants was used to evaluate the effect of telomere length on HCC risk. We observed a significant risk signal between genetically increased telomere length and HBV-related HCC risk (OR=2.09, 95% CI 1.32-3.31, P=0.002). Furthermore, a U-shaped curve was fitted by the restricted cubic spline curve, which indicated that either short or long telomere length would increase HCC risk (P=0.0022 for non-linearity test). Subgroup analysis did not reveal significant heterogeneity between different age, gender, smoking status and drinking status groups. Our results indicated that a genetic background that favors longer or shorter telomere length may increase HBV-related HCC risk-a U-shaped association. Copyright © 2017 Elsevier Ltd. All rights reserved.

  12. Analysis of contributing factors associated to related patients safety incidents in Intensive Care Medicine.

    Science.gov (United States)

    Martín Delgado, M C; Merino de Cos, P; Sirgo Rodríguez, G; Álvarez Rodríguez, J; Gutiérrez Cía, I; Obón Azuara, B; Alonso Ovies, Á

    2015-01-01

    To explore contributing factors (CF) associated to related critical patients safety incidents. SYREC study pos hoc analysis. A total of 79 Intensive Care Departments were involved. The study sample consisted of 1.017 patients; 591 were affected by one or more incidents. The CF were categorized according to a proposed model by the National Patient Safety Agency from United Kingdom that was modified. Type, class and severity of the incidents was analyzed. A total 2,965 CF were reported (1,729 were associated to near miss and 1,236 to adverse events). The CF group more frequently reported were related patients factors. Individual factors were reported more frequently in near miss and task related CF in adverse events. CF were reported in all classes of incidents. The majority of CF were reported in the incidents classified such as less serious, even thought CF patients factors were associated to serious incidents. Individual factors were considered like avoidable and patients factors as unavoidable. The CF group more frequently reported were patient factors and was associated to more severe and unavoidable incidents. By contrast, individual factors were associated to less severe and avoidable incidents. In general, CF most frequently reported were associated to near miss. Copyright © 2014 Elsevier España, S.L.U. and SEMICYUC. All rights reserved.

  13. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.

    Science.gov (United States)

    Wang, Ke-Sheng; Liu, Xue-Feng; Aragam, Nagesh

    2010-12-01

    Schizophrenia and bipolar disorder both have strong inherited components. Recent studies have indicated that schizophrenia and bipolar disorder may share more than half of their genetic determinants. In this study, we performed a meta-analysis (combined analysis) for genome-wide association data of the Affymetrix Genome-Wide Human SNP array 6.0 to detect genetic variants influencing both schizophrenia and bipolar disorder using European-American samples (653 bipolar cases and 1034 controls, 1172 schizophrenia cases and 1379 controls). The best associated SNP rs11789399 was located at 9q33.1 (p=2.38 × 10(-6), 5.74 × 10(-4), and 5.56 × 10(-9), for schizophrenia, bipolar disorder and meta-analysis of schizophrenia and bipolar disorder, respectively), where one flanking gene, ASTN2 (220kb away) has been associated with attention deficit/hyperactivity disorder and schizophrenia. The next best SNP was rs12201676 located at 6q15 (p=2.67 × 10(-4), 2.12 × 10(-5), 3.88 × 10(-8) for schizophrenia, bipolar disorder and meta-analysis, respectively), near two flanking genes, GABRR1 and GABRR2 (15 and 17kb away, respectively). The third interesting SNP rs802568 was at 7q35 within CNTNAP2 (p=8.92 × 10(-4), 1.38 × 10(-5), and 1.62 × 10(-7) for schizophrenia, bipolar disorder and meta-analysis, respectively). Through meta-analysis, we found two additional associated genes NALCN (the top SNP is rs2044117, p=4.57 × 10(-7)) and NAP5 (the top SNP is rs10496702, p=7.15 × 10(-7)). Haplotype analyses of above five loci further supported the associations with schizophrenia and bipolar disorder. These results provide evidence of common genetic variants influencing schizophrenia and bipolar disorder. These findings will serve as a resource for replication in other populations to elucidate the potential role of these genetic variants in schizophrenia and bipolar disorder. Copyright © 2010 Elsevier B.V. All rights reserved.

  14. Vertebral artery injury associated with blunt cervical spine trauma: a multivariate regression analysis.

    Science.gov (United States)

    Lebl, Darren R; Bono, Christopher M; Velmahos, George; Metkar, Umesh; Nguyen, Joseph; Harris, Mitchel B

    2013-07-15

    Retrospective analysis of prospective registry data. To determine the patient characteristics, risk factors, and fracture patterns associated with vertebral artery injury (VAI) in patients with blunt cervical spine injury. VAI associated with cervical spine trauma has the potential for catastrophical clinical sequelae. The patterns of cervical spine injury and patient characteristics associated with VAI remain to be determined. A retrospective review of prospectively collected data from the American College of Surgeons trauma registries at 3 level-1 trauma centers identified all patients with a cervical spine injury on multidetector computed tomographic scan during a 3-year period (January 1, 2007, to January 1, 2010). Fracture pattern and patient characteristics were recorded. Logistic multivariate regression analysis of independent predictors for VAI and subgroup analysis of neurological events related to VAI was performed. Twenty-one percent of 1204 patients with cervical injuries (n = 253) underwent screening for VAI by multidetector computed tomography angiogram. VAI was diagnosed in 17% (42 of 253), unilateral in 15% (38 of 253), and bilateral in 1.6% (4 of 253) and was associated with a lower Glasgow coma scale (P < 0.001), a higher injury severity score (P < 0.01), and a higher mortality (P < 0.001). VAI was associated with ankylosing spondylitis/diffuse idiopathic skeletal hyperosteosis (crude odds ratio [OR] = 8.04; 95% confidence interval [CI], 1.30-49.68; P = 0.034), and occipitocervical dissociation (P < 0.001) by univariate analysis and fracture displacement into the transverse foramen 1 mm or more (adjusted OR = 3.29; 95% CI, 1.15-9.41; P = 0.026), and basilar skull fracture (adjusted OR = 4.25; 95% CI, 1.25-14.47; P= 0.021), by multivariate regression model. Subgroup analyses of neurological events secondary to VAI occurred in 14% (6 of 42) and the stroke-related mortality rate was 4.8% (2 of 42). Neurological events were associated with male sex (P

  15. THE ANALYSIS OF STATISTICAL DATA ON MALIGNANT NEOPLASMS ASSOCIATED WITH HUMAN P APILLOMAVIRUS

    Directory of Open Access Journals (Sweden)

    A. A. Kostin

    2016-01-01

    Full Text Available In this study of statistical data for the first time in Russia the analysis of the morbidity and mortality of patients with malignant neoplasms that may be associated with human papilloma virus (HPV is performed: cervical cancer (cervical cancer, cancer of the vulva and vagina, cancer of penis, cancer of the rectum, anal canal and rectosigmoid junction cancer, cancer of the pharynx and larynx.

  16. Different anthropometric adiposity measures and their association with cardiovascular disease risk factors: a meta-analysis

    OpenAIRE

    van Dijk, S. B.; Takken, T.; Prinsen, E. C.; Wittink, H.

    2012-01-01

    Objectives To investigate which anthropometric adiposity measure has the strongest association with cardiovascular disease (CVD) risk factors in Caucasian men and women without a history of CVD. Design Systematic review and meta-analysis. Methods We searched databases for studies reporting correlations between anthropometric adiposity measures and CVD risk factors in Caucasian subjects without a history of CVD. Body mass index (BMI), waist circumference, waist-to-hip ratio, waist-to-height ra...

  17. A critical review and meta-analysis of the association between overt hyperthyroidism and mortality

    DEFF Research Database (Denmark)

    Brandt, Frans; Green, Anders; Hegedüs, Laszlo

    2011-01-01

    Overt hyperthyroidism has been associated with cardiac arrhythmias, hypercoagulopathy, stroke, and pulmonary embolism, all of which may increase mortality. Some, but not all, studies show an increased mortality in patients with hyperthyroidism. This inconsistency may be due to differences in stud...... design, characteristics of participants, or confounders. In order to test whether hyperthyroidism influences mortality, we performed a critical review and statistical meta-analysis....

  18. A systematic review and pooled analysis of CPR-associated cardiovascular and thoracic injuries.

    Science.gov (United States)

    Miller, Andrew C; Rosati, Shannon F; Suffredini, Anthony F; Schrump, David S

    2014-06-01

    The incidence of thoracic injuries resulting from cardiopulmonary resuscitation (CPR) is not well characterized. We describe a case in which a CPR-associated atrial rupture was identified with ultrasound and successfully managed in the intensive care unit with a bedside thoracotomy and atrial repair. We then describe a systematic review with pooled data analysis of CPR-associated cardiovascular, pulmonary, pleural, and thoracic wall injuries. PubMed, Scopus, EMBASE, and Web of Science were searched to identify relevant published studies. Unpublished studies were identified by searching the Australian and New Zealand Clinical Trials Registry, World Health Organization International Clinical Trials Registry Platform, Cochrane Library, ClinicalTrials.gov, Current Controlled Trials, and Google. Inclusion criteria for the pooled analysis were any clinical or autopsy study in which (a) patients underwent cardiopulmonary resuscitation, (b) chest compressions were administered either manually or with the assistance of active compression-decompression devices, and (c) autopsy or dedicated imaging assessments were conducted to identify complications. Exclusion criteria for the pooled analysis were pre-clinical studies, case reports and abstracts. Nine-hundred twenty-eight potentially relevant references were identified. Twenty-seven references met inclusion criteria. A systematic review of the literature is provided with pooled data analysis. The incidence of reported CPR-associated cardiovascular and thoracic wall injuries varies widely. CPR with active compression-decompression devices has a higher reported incidence of cardiopulmonary injuries. Bedside ultrasound may be a useful adjunct to assess and risk-stratify patients to identify serious or life-threatening CPR-associated injuries. Published by Elsevier Ireland Ltd.

  19. Aortic Dissection and Aortic Aneurysms Associated with Fluoroquinolones: A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Singh, Sonal; Nautiyal, Amit

    2017-12-01

    Our objective was to evaluate the association between fluoroquinolone use and aortic dissection or aortic aneurysm in a systematic review and meta-analysis. We searched Medline, Embase, and Scopus from inception to February 15, 2017. We selected controlled studies for inclusion if they reported data on aortic dissection and aortic aneurysm associated with fluoroquinolones exposure versus no exposure. Data were extracted by 2 independent reviewers, with disagreements resolved through further discussion. We assessed the quality of studies using the Newcastle-Ottawa Scale for observational studies and the strength of evidence using the Grading of Recommendations Assessment, Development, and Evaluation approach. The odds ratios (ORs) from observational studies were pooled using the fixed-effect inverse variance method, and statistical heterogeneity was assessed using the I 2 statistic. After a review of 714 citations, we included 2 observational studies in the meta-analysis. Current use of fluoroquinolones was associated with a statistically significantly increased risk of aortic dissection (OR, 2.79; 95% confidence interval [CI], 2.31-3.37; I 2  = 0%) and aortic aneurysm (OR, 2.25; 95% CI, 2.03-2.49; I 2  = 0%) in a fixed-effects meta-analysis. The unadjusted OR estimates and sensitivity analysis using a random-effects model showed similar results. We rated the strength of evidence to be of moderate quality. The number needed to treat to harm for aortic aneurysm for elderly patients aged more than 65 years who were current users of fluoroquinolones was estimated to be 618 (95% CI, 518-749). Evidence from a small number of studies suggests that exposure to fluoroquinolones is consistently associated with a small but significantly increased risk of aortic dissection and aortic aneurysm. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Association between periodontitis and ischemic stroke: a systematic review and meta-analysis

    International Nuclear Information System (INIS)

    Leira, Yago; Seoane, Juan; Blanco, Miguel; Rodríguez-Yáñez, Manuel; Takkouche, Bahi; Blanco, Juan; Castillo, José

    2017-01-01

    Several observational studies have suggested an association between periodontitis and cerebral ischemia. This meta-analysis aimed to investigate whether this link exists, and if so, the degree to which it is significant. The Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) guideline for systematic review was used. The search strategy included using electronic databases and hand searching works published up to March 2015. MEDLINE via PubMed, EMBASE, Proceedings Web of Science and Current Contents Connect were searched by two independent reviewers. Case-control, cross-sectional or cohort studies including patients with measures of periodontitis and ischemic stroke were eligible to be included in the analysis. Quality assessments of selected studies were performed. From a total of 414 titles and abstracts, 57 potentially relevant full text papers were identified. After inclusion criteria were applied, 8 studies were included in the present systematic review (5 case-control and 3 cohort studies). Although it was not the intention, cross-sectional studies were excluded due to eligibility criteria were not accomplished. Therefore, meta-analyses were conducted with data retrieved from the 8 studies included. These meta-analyses showed statistically significant association between periodontitis and ischemic stroke in both cohort pooled relative risks at 2.52 (1.77–3.58), and case-control studies pooled relative risks at 3.04 (1.10–8.43). In conclusion, the present meta-analysis demonstrated an association between periodontitis and ischemic stroke. However, well-designed prospective studies should be carried out to provide robust evidence of the link between both diseases. In regards to ischemic stroke subtypes, further case-control studies should be carried out to investigate whether there is any association between the different subtypes of cerebral infarcts and periodontitis.

  1. The Association between Polymorphism of INSR and Polycystic Ovary Syndrome: A Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Chun Feng

    2015-01-01

    Full Text Available Polycystic ovary syndrome (PCOS is the most common gynecological endocrine disorder. The genetic background is believed to play a crucial role in the pathogenesis of PCOS. In recent years, the role of insulin receptor (INSR polymorphisms in PCOS predisposition has attracted much attention. We performed a meta-analysis to investigate the association between the single nucleotide polymorphisms (SNPs of INSR and PCOS. Published literature from Pubmed, Embase, and Cochrane CENTRAL was retrieved up until 7 August 2014. A total of 20 case-control studies including 23,845 controls and 17,460 PCOS cases with an average Newcastle-Ottawa quality assessment scale (NOS score of 6.75 were analyzed. Ninety-eight SNPs distributed in 23 exons and the flanking regions of INSR were investigated, among which 17 SNPs were found to be associated with PCOS. Three SNPs detected in more than three studies were selected for further analyses. Twelve studies including 1158 controls and 1264 PCOS cases entered the analysis of rs1799817, but no significant association was found for every genotype (p > 0.05. Further subgroup stratification by ethnicity and weight did not lead to discovery of significant correlation (p > 0.05. For rs2059806, four studies including 442 controls and 524 PCOS cases were qualified for meta-analysis, and no significant association with PCOS was found for any genotype (p > 0.05. Four studies including 12,830 controls and 11,683 PCOS cases investigated the correlation between rs2059807 and PCOS, and five of the six cohorts indicated a significant impact. Our current meta-analysis suggests no significant correlation between rs1799817/rs2059806 SNPs and susceptibility of PCOS, while rs2059807 could be a promising candidate SNP that might be involved in the susceptibility of PCOS.

  2. Associations of welding and manganese exposure with Parkinson disease: review and meta-analysis.

    Science.gov (United States)

    Mortimer, James A; Borenstein, Amy R; Nelson, Lorene M

    2012-09-11

    To examine associations of welding and manganese exposure with Parkinson disease (PD) using meta-analyses of data from cohort, case-control, and mortality studies. Epidemiologic studies related to welding or manganese exposure and PD were identified in a PubMed search, article references, published reviews, and abstracts. Inclusion criteria were 1) cohort, case-control, or mortality study with relative risk (RR), odds ratio (OR), or mortality OR (MOR) and 95 confidence intervals (95% CI); 2) RR, OR, and MOR matched or adjusted for age and sex; 3) valid study design and analysis. When participants of a study were a subgroup of those in a larger study, only results of the larger study were included to assure independence of datasets. Pooled RR/OR estimates and 95% CIs were obtained using random effects models; heterogeneity of study effects were evaluated using the Q statistic and I(2) index in fixed effect models. Thirteen studies met inclusion criteria for the welding meta-analysis and 3 studies for the manganese exposure meta-analysis. The pooled RR for the association between welding and PD for all study designs was 0.86 (95% CI 0.80-0.92), with absence of between-study heterogeneity (I(2) = 0.0). Effect measures for cohort, case-control, and mortality studies were similar (0.91, 0.82, 0.87). For the association between manganese exposure and PD, the pooled OR was 0.76 (95% CI 0.41-1.42). Welding and manganese exposure are not associated with increased PD risk. Possible explanations for the inverse association between welding and PD include confounding by smoking, healthy worker effect, and hormesis.

  3. Human Endogenous Retrovirus HERV-Fc1 Association with Multiple Sclerosis Susceptibility: A Meta-Analysis

    Science.gov (United States)

    García-Montojo, Marta; Alcina, Antonio; Fedetz, María; Alloza, Iraide; Astobiza, Ianire; Leyva, Laura; Fernández, Oscar; Izquierdo, Guillermo; Antigüedad, Alfredo; Arroyo, Rafael; Álvarez-Lafuente, Roberto; Vandenbroeck, Koen; Matesanz, Fuencisla; Urcelay, Elena

    2014-01-01

    Background Human endogenous retroviruses (HERVs) are repetitive sequences derived from ancestral germ-line infections by exogenous retroviruses and different HERV families have been integrated in the genome. HERV-Fc1 in chromosome X has been previously associated with multiple sclerosis (MS) in Northern European populations. Additionally, HERV-Fc1 RNA levels of expression have been found increased in plasma of MS patients with active disease. Considering the North-South latitude gradient in MS prevalence, we aimed to evaluate the role of HERV-Fc1on MS risk in three independent Spanish cohorts. Methods A single nucleotide polymorphism near HERV-Fc1, rs391745, was genotyped by Taqman chemistry in a total of 2473 MS patients and 3031 ethnically matched controls, consecutively recruited from: Northern (569 patients and 980 controls), Central (883 patients and 692 controls) and Southern (1021 patients and 1359 controls) Spain. Our results were pooled in a meta-analysis with previously published data. Results Significant associations of the HERV-Fc1 polymorphism with MS were observed in two Spanish cohorts and the combined meta-analysis with previous data yielded a significant association [rs391745 C-allele carriers: pM-H = 0.0005; ORM-H (95% CI) = 1.27 (1.11–1.45)]. Concordantly to previous findings, when the analysis was restricted to relapsing remitting and secondary progressive MS samples, a slight enhancement in the strength of the association was observed [pM-H = 0.0003, ORM-H (95% CI) = 1.32 (1.14–1.53)]. Conclusion Association of the HERV-Fc1 polymorphism rs391745 with bout-onset MS susceptibility was confirmed in Southern European cohorts. PMID:24594754

  4. An association network analysis among microeukaryotes and bacterioplankton reveals algal bloom dynamics.

    Science.gov (United States)

    Tan, Shangjin; Zhou, Jin; Zhu, Xiaoshan; Yu, Shichen; Zhan, Wugen; Wang, Bo; Cai, Zhonghua

    2015-02-01

    Algal blooms are a worldwide phenomenon and the biological interactions that underlie their regulation are only just beginning to be understood. It is established that algal microorganisms associate with many other ubiquitous, oceanic organisms, but the interactions that lead to the dynamics of bloom formation are currently unknown. To address this gap, we used network approaches to investigate the association patterns among microeukaryotes and bacterioplankton in response to a natural Scrippsiella trochoidea bloom. This is the first study to apply network approaches to bloom dynamics. To this end, terminal restriction fragment (T-RF) length polymorphism analysis showed dramatic changes in community compositions of microeukaryotes and bacterioplankton over the blooming period. A variance ratio test revealed significant positive overall associations both within and between microeukaryotic and bacterioplankton communities. An association network generated from significant correlations between T-RFs revealed that S. trochoidea had few connections to other microeukaryotes and bacterioplankton and was placed on the edge. This lack of connectivity allowed for the S. trochoidea sub-network to break off from the overall network. These results allowed us to propose a conceptual model for explaining how changes in microbial associations regulate the dynamics of an algal bloom. In addition, key T-RFs were screened by principal components analysis, correlation coefficients, and network analysis. Dominant T-RFs were then identified through 18S and 16S rRNA gene clone libraries. Results showed that microeukaryotes clustered predominantly with Dinophyceae and Perkinsea while the majority of bacterioplankton identified were Alphaproteobacteria, Gammaproteobacteria, and Bacteroidetes. The ecologi-cal roles of both were discussed in the context of these findings. © 2014 Phycological Society of America.

  5. The association between KCNQ1 gene polymorphism and type 2 diabetes risk: a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Qiman Sun

    Full Text Available BACKGROUND: KCNQ1 (potassium voltage-gated channel KQT-like sub-family, member 1 encodes a pore-forming subunit of a voltage-gated K(+ channel (KvLQT1 that plays a key role for the repolarization of the cardiac action potential as well as water and salt transport in epithelial tissues. Recently, genome-wide association studies have identified KCNQ1 as a type 2 diabetes (T2D susceptibility gene in populations of Asian descent. After that, a number of studies reported that the rs2237892 and rs2237895 polymorphism in KCNQ1 has been implicated in T2D risk. However, studies on the association between these polymorphism and T2D remain conflicting. To investigate this inconsistency, we performed this meta-analysis. METHODS: Databases including Pubmed, EMBASE, Web of Science and China National Knowledge Infrastructure (CNKI were searched to find relevant studies. Odds ratios (ORs with 95% confidence intervals (CIs were used to assess the strength of association. Potential sources of heterogeneity were also assessed by subgroup analysis and meta-regression. RESULTS: A total of 25 articles involving 70,577 T2D cases and 99,068 controls were included. Overall, the summary odds ratio of C allele for T2D was 1.32 (95% CI 1.26-1.38; P<10-5 and 1.24 (95% CI: 1.20-1.29; P<10-5 for KCNQ1 rs2237892 and rs2237895 polymorphisms, respectively. Significant results were also observed using co-dominant, dominant and recessive genetic models. After stratifying by ethnicity, sample size, and diagnostic criteria, significant associations were also obtained. CONCLUSIONS: This meta-analysis suggests that the rs2237892 and rs2237895 polymorphisms in KCNQ1 are associated with elevated type 2 diabetes susceptibility.

  6. Proteomics and bioinformatics analysis reveal underlying pathways of infection associated histologic chorioamnionitis in pPROM.

    Science.gov (United States)

    Tambor, V; Kacerovsky, M; Lenco, J; Bhat, G; Menon, R

    2013-02-01

    The presence of microbial invasion of the amniotic cavity (MIAC) and histological chorioamnionitis (HCA) is associated with adverse neonatal outcomes in pregnancies complicated by preterm prelabor rupture of membranes (pPROM). Therefore, there is an urgent need to identify new biomarkers revealing these conditions. The objective of this study is to identify possible biomarkers and their underlying biofunctions in pPROM pregnancies with and without MIAC and HCA. A total of 72 women with pPROM were recruited. Only women with both MIAC and HCA (n = 19) and all women without these complications (n = 19) having the same range of gestational ages at sampling were included in the study. Samples of amniotic fluid were obtained by transabdominal amniocentesis, processed and analyzed using quantitative shotgun proteomics. Ingenuity pathway analysis was used to identify molecular networks that involve altered proteins. Network interaction identified by ingenuity pathway analysis revealed immunological disease and the inflammatory response as the top functions and disease associated with pPROM in the presence of MIAC and HCA. The proteins involved in these pathways were significantly altered between the groups with and without the presence of both MIAC and HCA. Proteins involved included histones H3, H4, H2B, cathelicidin antimicrobial peptide, myeloperoxidase, neutrophil gelatinase-associated lipocalin, matrix metalloproteinase-9, peptidoglycan recognition protein-1 and neutrophil defensin 1, all of which were found to be up-regulated in the presence of MIAC and HCA. Bioinformatic analysis of proteomics data allowed us to project likely biomolecular pathology resulting in pPROM complicated by MIAC and HCA. As inflammation is not a homogeneous phenomenon, we provide evidence for oxidative-stress-associated DNA damage and biomarkers of reactive oxygen species generation as factors associated with inflammation and proteolysis. Copyright © 2012 Elsevier Ltd. All rights reserved.

  7. Diacylglycerol kinase κ (DGKK) variants and hypospadias in Han Chinese: association and meta-analysis.

    Science.gov (United States)

    Ma, Qichao; Tang, Yunman; Lin, Houwei; Xu, Maosheng; Xu, Guofeng; Fang, Xiaoliang; Chen, Jianhua; Song, Zhijian; Li, Zhiqiang; Shi, Yongyong; Geng, Hongquan

    2015-10-01

    To investigate whether diacylglycerol kinase κ (DGKK) is a susceptibility gene for hypospadias in the Han Chinese population as has been suggested by previous publications. A case-control study involving 466 patients with hypospadias and 402 healthy subjects was conducted to assess the relationship between DGKK single nucleotide polymorphisms (SNPs) and hypospadias risk in the Han Chinese population. The 466 hypospadias patients were further divided into mild, moderate and severe subgroups for analysis. Six SNPs (rs1934179, rs4143304, rs9969978, rs1934188, rs4826632 and rs4599945) were marginally associated with mild and moderate hypospadias [odds ratios (ORs) > 1, P = 0.05 to P 1, P > 0.1). After correcting for multiple testing, it was determined that neither individual SNPs nor individual haplotypes were associated with hypospadias. To evaluate this relationship in multiple populations, we performed a meta-analysis on six SNPs, using combined data from our present results and those of previous studies of different races (including 1966 patients and 2492 controls). Six SNPs (rs1934179, rs4143304, rs9969978, rs1934188, rs7063116 and rs1934190) were significantly associated with mild/moderate hypospadias (ORs >1, P hypospadias (OR > 1, P hypospadias susceptibility in the Chinese Han population. Our meta-analysis supports the hypothesis that DGKK is a common risk gene for hypospadias, particularly in cases of mild or moderate hypospadias in Caucasian populations. © 2014 The Authors BJU International © 2014 BJU International Published by John Wiley & Sons Ltd.

  8. Association of the HOTAIR rs4759314 polymorphism with cancer risk: a meta-analysis.

    Science.gov (United States)

    Liu, Fang-Teng; Zhou, Liang; Qiu, Cheng; Xia, Guangfeng; Zhu, Pei-Qian; Luo, Hong-Liang

    2016-01-01

    To explore the association between HOTAIR rs4759314 and cancer risk. A comprehensive online search was conducted using PubMed, EMBASE, and CNKI databases to identify relevant studies. The case-control studies related to HOTAIR rs4759314 polymorphism and cancer risk were selected according to the inclusion and exclusion criteria. The retrieval time was until November 2015. After extracting the basic data information and performing an evaluation of the quality of the literature, the meta-analysis was performed using STATA 12.0 software, by calculating the odds ratio (OD) and 95% confidence interval (95% CI), and further subgroup analysis, literature publication bias testing, and sensitivity analysis. The studies included a total of 5025 patients with cancer and 5657 controls. The results found no significant association between the HOTAIR rs4759314 polymorphism and cancer risk in a Chinese population (G vs A, OR=1.06, 95% CI :0.87-1.30 ; GG/GA vs AA, OR=1.07, 95% CI: 0.87-1.32; GG vs GA/AA, OR=0.75, 95% CI:0.39-1.43; GA vs AA, OR=1.08, 95% CI: 0.88-1.33; GG vs AA, OR=0.76, 95% CI:0.39-1.45) (all pact as a genetic susceptibility factor for gastric cancer in Chinese population. No significant association was noted between the HOTAIR rs4759314 polymorphism and cancer risk in a Chinese population.

  9. Steep Delay Discounting and Addictive Behavior: A Meta-Analysis of Continuous Associations

    Science.gov (United States)

    Amlung, Michael; Vedelago, Lana; Acker, John; Balodis, Iris; MacKillop, James

    2016-01-01

    Aims To synthesize continuous associations between delayed reward discounting (DRD) and both addiction severity and quantity-frequency (QF); to examine moderators of these relationships; and to investigate publication bias. Methods Meta-analysis of published studies examining continuous associations between DRD and addictive behaviors. Published, peer-reviewed studies on addictive behaviors (alcohol, tobacco, cannabis, stimulants, opiates, and gambling) were identified via PubMed, MEDLINE, and PsycInfo. Studies were restricted to DRD measures of monetary gains. Random effects meta-analysis was conducted using Pearson’s r as the effect size. Publication bias was evaluated using fail-safe N, Begg-Mazumdar and Egger’s tests, meta-regression of publication year and effect size, and imputation of missing studies. Results The primary meta-analysis revealed a small magnitude effect size that was highly significant (r = 0.14, p addictive behavior (p = 0.30) or DRD assessment (p = 0.90). Indices of publication bias suggested a modest impact of unpublished findings. Conclusions Delayed reward discounting is robustly associated with continuous measures of addiction severity and quantity-frequency. This relation is generally robust across type of addictive behavior and delayed reward discounting assessment modality. PMID:27450931

  10. Association Between Chromosome 9p21 Variants and the Ankle-Brachial Index Identified by a Meta-Analysis of 21 Genome-Wide Association Studies

    NARCIS (Netherlands)

    Murabito, Joanne M.; White, Charles C.; Kavousi, Maryam; Sun, Yan V.; Feitosa, Mary F.; Nambi, Vijay; Lamina, Claudia; Schillert, Arne; Coassin, Stefan; Bis, Joshua C.; Broer, Linda; Crawford, Dana C.; Franceschini, Nora; Frikke-Schmidt, Ruth; Haun, Margot; Holewijn, Suzanne; Huffman, Jennifer E.; Hwang, Shih-Jen; Kiechl, Stefan; Kollerits, Barbara; Montasser, May E.; Nolte, Ilja M.; Rudock, Megan E.; Senft, Andrea; Teumer, Alexander; van der Harst, Pim; Vitart, Veronique; Waite, Lindsay L.; Wood, Andrew R.; Wassel, Christina L.; Absher, Devin M.; Allison, Matthew A.; Amin, Najaf; Arnold, Alice; Asselbergs, Folkert W.; Aulchenko, Yurii; Bandinelli, Stefania; Barbalic, Maja; Boban, Mladen; Brown-Gentry, Kristin; Couper, David J.; Criqui, Michael H.; Dehghan, Abbas; den Heijer, Martin; Dieplinger, Benjamin; Ding, Jingzhong; Doerr, Marcus; Espinola-Klein, Christine; Felix, Stephan B.; Ferrucci, Luigi; Folsom, Aaron R.; Fraedrich, Gustav; Gibson, Quince; Goodloe, Robert; Gunjaca, Grgo; Haltmayer, Meinhard; Heiss, Gerardo; Hofman, Albert; Kieback, Arne; Kiemeney, Lambertus A.; Kolcic, Ivana; Kullo, Iftikhar J.; Kritchevsky, Stephen B.; Lackner, Karl J.; Li, Xiaohui; Lieb, Wolfgang; Lohman, Kurt; Meisinger, Christa; Melzer, David; Mohler, Emile R.; Mudnic, Ivana; Mueller, Thomas; Navis, Gerjan; Oberhollenzer, Friedrich; Olin, Jeffrey W.; O'Connell, Jeff; O'Donnell, Christopher J.; Palmas, Walter; Penninx, Brenda W.; Petersmann, Astrid; Polasek, Ozren; Psaty, Bruce M.; Rantner, Barbara; Rice, Ken; Rivadeneira, Fernando; Rotter, Jerome I.; Seldenrijk, Adrie; Stadler, Marietta; Summerer, Monika; Tanaka, Toshiko; Tybjaerg-Hansen, Anne; Uitterlinden, Andre G.; van Gilst, Wiek H.; Vermeulen, Sita H.; Wild, Sarah H.; Wild, Philipp S.; Willeit, Johann; Zeller, Tanja; Zemunik, Tatijana; Zgaga, Lina; Assimes, Themistocles L.; Blankenberg, Stefan; Campbell, Harry; Boerwinkle, Eric; Cooke, John P.; de Graaf, Jacqueline; Herrington, David; Kardia, Sharon L. R.; Mitchell, Braxton D.; Murray, Anna; Muenzel, Thomas; Newman, Anne B.; Oostra, Ben A.; Rudan, Igor; Shuldiner, Alan R.; Snieder, Harold; van Duijn, Cornelia M.; Voelker, Uwe; Wright, Alan F.; Wichmann, H. -Erich; Wilson, James F.; Witteman, Jacqueline C. M.; Liu, Yongmei; Hayward, Caroline; Borecki, Ingrid B.; Ziegler, Andreas; North, Kari E.; Cupples, L. Adrienne; Kronenberg, Florian; Dorr, M.; Munzel, T.; Volker, U.

    Background-Genetic determinants of peripheral arterial disease (PAD) remain largely unknown. To identify genetic variants associated with the ankle-brachial index (ABI), a noninvasive measure of PAD, we conducted a meta-analysis of genome-wide association study data from 21 population-based cohorts.

  11. A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease

    DEFF Research Database (Denmark)

    Amin Al Olama, Ali; Kote-Jarai, Zsofia; Schumacher, Fredrick R

    2013-01-01

    Genome-wide association studies (GWAS) have identified multiple common genetic variants associated with an increased risk of prostate cancer (PrCa), but these explain less than one-third of the heritability. To identify further susceptibility alleles, we conducted a meta-analysis of four GWAS inc...

  12. Associations between matrix metalloproteinase gene polymorphisms and glaucoma susceptibility: a meta-analysis.

    Science.gov (United States)

    Wu, Ming-Yue; Wu, Yang; Zhang, Yong; Liu, Cai-Yun; Deng, Chun-Yan; Peng, Le; Zhou, Lan

    2017-04-21

    Matrix metalloproteinases (MMPs) polymorphisms have been implicated in the pathogenesis of glaucoma risk. However, the results were controversial. We performed a meta-analysis to evaluate the precise associations between MMPs polymorphisms and glaucoma risk. Related studies were reviewed by searching electronic databases within four databases. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the association between the most common polymorphisms of MMPs and glaucoma risk. Heterogeneity, publication bias and sensitivity analysis were conducted to guarantee the statistical power. Overall, 11 selected articles involving 2,388 cases and 2,319 controls were included in this meta-analysis. Significant associations were only found between MMP-9 rs17576 G > A polymorphism (GA vs. GG: OR = 0.80, 95%CI = 0.67-0.97, P = 0.02, I 2  = 0%), MMP-9 rs3918249 C > T polymorphism (TT vs. CC + CT: OR = 0.71, 95%CI = 0.51-0.98, P = 0.04, I 2  = 0%) and glaucoma risk in the general population. Subgroup analysis also suggested that MMP-9 rs17576 G > A was related to glaucoma in the Caucasian population (GA vs. GG: OR = 0.67, 95%CI = 0.45-1.00, P = 0.05; GA + AA vs. GG: OR = 0.66, 95%CI = 0.45-0.97, P = 0.03, I 2  = 0%). Our meta-analysis demonstrates that MMP-9 rs17576 G > A polymorphism might be a protective factor against the development of glaucoma in Caucasian population.

  13. Association Analysis of ULK1 with Crohn’s Disease in a New Zealand Population

    Directory of Open Access Journals (Sweden)

    Angharad R. Morgan

    2012-01-01

    Full Text Available The gene ULK1 is an excellent candidate for Crohn’s disease (CD due to its role in autophagy. A recent study provided evidence for the involvement of ULK1 in the pathogenesis of CD (Henckaerts et al., 2011. We attempted to validate this association, using a candidate gene SNP study of ULK1 in CD. We identified tagging SNPs and genotyped these SNPs using the Sequenom platform in a Caucasian New Zealand dataset consisting of 406 CD patients and 638 controls. In this sample, we were able to demonstrate an association between CD and several different ULK1 SNPs and haplotypes. Phenotypic analysis showed an association with age of diagnosis 17–40 years and inflammatory behaviour. The findings of this study provide evidence to suggest that genetic variation in ULK1 may play a role in interindividual differences in CD susceptibility and clinical outcome.

  14. Meta-analysis of the association between DCDC2 polymorphisms and risk of dyslexia.

    Science.gov (United States)

    Zhong, Rong; Yang, Beifang; Tang, Hui; Zou, Li; Song, Ranran; Zhu, Ling-Qiang; Miao, Xiaoping

    2013-02-01

    Developmental dyslexia (DD) is a highly heritable neurological disorder that is prevalent in school-aged children. The dyslexia-associated gene DCDC2 is a member of the DCX family of genes known to play roles in neurogenesis, neuronal migration, and differentiation. However, the associations between DCDC2 genetic variations and dyslexia have yielded inconclusive results. Clarifying the effects of DCDC2 polymorphisms on dyslexia risk will advance not only elucidation of the role of DCDC2 in the brain development but also development of possible therapeutic approach for dyslexia. In this review, we summarized the ongoing association studies concerning DCDC2 polymorphisms and dyslexia risk by using meta-analysis and revealed that DCDC2 rs807701 might contribute significantly to dyslexia risk.

  15. How is environmental performance associated with economic growth? A world cross-country analysis

    Directory of Open Access Journals (Sweden)

    Neagu Olimpia

    2017-09-01

    Full Text Available The aim of the paper is to explore the association between environmental performance and income level in the world economy in 2016. Data from Yale University and World Bank are used in a cross-country regression analysis comprising 166 countries. The gross Domestic Product per capita (based in purchased power parity, constant 2011 international dollars in these countries is positively associated with the environmental performance index (EPI calculated by Yale and Columbia University in 2016. Furthermore, the causality of this relationship is from GDP per capita to Environmental Performance and both Environmental Health (EH and Ecosystem Vitality (EV are positively associated with GDP per capita. Environmental Health (EH is stronger related to GDP per capita, meaning that investments in public health, sanitation and infrastructure are increasing as countries develop.

  16. ASSOCIATION RULE ANALYSIS FOR TOUR ROUTE RECOMMENDATION AND APPLICATION TO WCTSNOP

    Directory of Open Access Journals (Sweden)

    H. Fang

    2017-09-01

    Full Text Available The increasing E-tourism systems provide intelligent tour recommendation for tourists. In this sense, recommender system can make personalized suggestions and provide satisfied information associated with their tour cycle. Data mining is a proper tool that extracting potential information from large database for making strategic decisions. In the study, association rule analysis based on FP-growth algorithm is applied to find the association relationship among scenic spots in different cities as tour route recommendation. In order to figure out valuable rules, Kulczynski interestingness measure is adopted and imbalance ratio is computed. The proposed scheme was evaluated on Wangluzhe cultural tourism service network operation platform (WCTSNOP, where it could verify that it is able to quick recommend tour route and to rapidly enhance the recommendation quality.

  17. Association Rule Analysis for Tour Route Recommendation and Application to Wctsnop

    Science.gov (United States)

    Fang, H.; Chen, C.; Lin, J.; Liu, X.; Fang, D.

    2017-09-01

    The increasing E-tourism systems provide intelligent tour recommendation for tourists. In this sense, recommender system can make personalized suggestions and provide satisfied information associated with their tour cycle. Data mining is a proper tool that extracting potential information from large database for making strategic decisions. In the study, association rule analysis based on FP-growth algorithm is applied to find the association relationship among scenic spots in different cities as tour route recommendation. In order to figure out valuable rules, Kulczynski interestingness measure is adopted and imbalance ratio is computed. The proposed scheme was evaluated on Wangluzhe cultural tourism service network operation platform (WCTSNOP), where it could verify that it is able to quick recommend tour route and to rapidly enhance the recommendation quality.

  18. Association analysis between the tag SNP for sonic hedgehog rs9333613 polymorphism and male sexual orientation.

    Science.gov (United States)

    Wang, Binbin; Zhou, Sirui; Hong, Fuchang; Wang, Jing; Liu, Xiaoli; Cai, Yumao; Wang, Feng; Feng, Tiejian; Ma, Xu

    2012-01-01

    Male sexual orientation has been proposed to have genetic components, but previously suggested candidate genes have all received negative results. The human sonic hedgehog (SHH) gene is located in the 7q36 region, which was linked to male sexual orientation in a previous genome-wide association study. SHH is known to play an important role in embryo patterning, and there is evidence connecting it to sexual orientation. In this study, we performed an association analysis of the SHH tag single nucleotide polymorphism rs9333613 in 361 subjects and 319 Chinese male controls. We find a significant difference in genotype and allele distribution between identified homosexuals and heterosexual control subjects, suggesting that the SHH gene could potentially be associated with male sexual orientation.

  19. Maternal Complications Associated with Stillbirth Delivery: a Cross-Sectional Analysis

    Science.gov (United States)

    Gold, Katherine J.; Mozurkewich, Ellen L.; Puder, Karoline S.; Treadwell, Marjorie C.

    2016-01-01

    This study sought to identify delivery complications associated with stillbirth labor and delivery. We conducted a retrospective chart review evaluating stillbirth demographics, pregnancy and maternal risk factors, and complications of labor and delivery. We performed bivariable analysis and multivariable logistic regression to evaluate factors associated with medical complications and variations by race. Our cohort included 543 mothers with stillbirth, of which two-thirds were African-American. We noted high rates of shoulder dystocia, clinical chorioamnionitis, postpartum hemorrhage, and retained placenta in women with stillbirths. 33 women (6%) experienced at least one serious maternal complication. Complication rates did not vary by maternal race. Providers who perform obstetrical care should be alert to the high rate of maternal medical complications associated with labor and delivery of a stillbirth fetus. PMID:26479679

  20. Association between MTHFR polymorphisms and acute myeloid leukemia risk: a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Yu-Tao Qin

    Full Text Available Previous observational studies investigating the association between methylenetetrahydrofolate reductase (MTHFR polymorphisms and acute myeloid leukemia risk (AML have yielded inconsistent results. The aim of this study is to derive a more precise estimation of the association between MTHFR (C677T and A1298C polymorphisms and acute myeloid leukemia risk. PubMed and Embase databases were systematically searched to identify relevant studies from their inception to August 2013. Odds ratios (ORs with 95% confidence intervals (CIs were the metric of choice. Thirteen studies were selected for C677T polymorphism (1838 cases and 5318 controls and 9 studies (1335 patients and 4295 controls for A1298C polymorphism. Overall, pooled results showed that C677T polymorphism was not significant associated with AML risk(OR, 0.98-1.04; 95% CI, 0.86-0.92 to 1.09-1.25. Similar results were observed for the A1298C polymorphism and in subgroup analysis. All comparisons revealed no substantial heterogeneity nor did we detect evidence of publication bias. In summary, this meta-analysis provides evidence that MTHFR polymorphisms were not associated with AML risk. Further investigations are needed to offer better insight into the role of these polymorphisms in AML carcinogenesis.

  1. Association between MTHFR Polymorphisms and Acute Myeloid Leukemia Risk: A Meta-Analysis

    Science.gov (United States)

    Su, Yan; Lu, Ge-Ning; Wang, Ren-Sheng

    2014-01-01

    Previous observational studies investigating the association between methylenetetrahydrofolate reductase (MTHFR) polymorphisms and acute myeloid leukemia risk (AML) have yielded inconsistent results. The aim of this study is to derive a more precise estimation of the association between MTHFR (C677T and A1298C) polymorphisms and acute myeloid leukemia risk. PubMed and Embase databases were systematically searched to identify relevant studies from their inception to August 2013. Odds ratios (ORs) with 95% confidence intervals (CIs) were the metric of choice. Thirteen studies were selected for C677T polymorphism (1838 cases and 5318 controls) and 9 studies (1335 patients and 4295 controls) for A1298C polymorphism. Overall, pooled results showed that C677T polymorphism was not significant associated with AML risk(OR, 0.98–1.04; 95% CI, 0.86–0.92 to 1.09–1.25). Similar results were observed for the A1298C polymorphism and in subgroup analysis. All comparisons revealed no substantial heterogeneity nor did we detect evidence of publication bias. In summary, this meta-analysis provides evidence that MTHFR polymorphisms were not associated with AML risk. Further investigations are needed to offer better insight into the role of these polymorphisms in AML carcinogenesis. PMID:24586405

  2. Association of vitamin C with the risk of age-related cataract: a meta-analysis.

    Science.gov (United States)

    Wei, Lin; Liang, Ge; Cai, Chunmei; Lv, Jin

    2016-05-01

    Whether vitamin C is a protective factor for age-related cataract remains unclear. Thus, we conducted a meta-analysis to summarize the evidence from epidemiological studies of vitamin C and the risk of age-related cataract. Pertinent studies were identified by searching in PubMed and in Webscience. The random effect model was used to combine the results. Meta-regression and subgroups analyses were used to explore potential sources of between-study heterogeneity. Publication bias was estimated using Egger's regression asymmetry test. Finally, 15 articles with 20 studies for vitamin C intake and eight articles with 10 studies for serum ascorbate were included in this meta-analysis. The relative risk (RR) and 95% confidence interval of cataract for the highest versus the lowest category of vitamin C intake was 0.814 (0.707-0.938), and the associations were significant in America and Asia. Significant association of cataract risk with highest versus the lowest category of serum ascorbate was found in general [0.704 (0.564-0.879)]. Inverse associations were also found between serum ascorbate and nuclear cataract and posterior subcapsular cataract. Higher vitamin C intake and serum ascorbate might be inversely associated with risk of cataract. Vitamin C intake should be advocated for the primary prevention of cataract. © 2015 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  3. Prevalence and Predictors of Clozapine-Associated Constipation: A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Shirazi, Ayala; Stubbs, Brendon; Gomez, Lucia; Moore, Susan; Gaughran, Fiona; Flanagan, Robert J; MacCabe, James H; Lally, John

    2016-06-02

    Constipation is a frequently overlooked side effect of clozapine treatment that can prove fatal. We conducted a systematic review and meta-analysis to estimate the prevalence and risk factors for clozapine-associated constipation. Two authors performed a systematic search of major electronic databases from January 1990 to March 2016 for articles reporting the prevalence of constipation in adults treated with clozapine. A random effects meta-analysis was conducted. A total of 32 studies were meta-analyzed, establishing a pooled prevalence of clozapine-associated constipation of 31.2% (95% CI: 25.6-37.4) (n = 2013). People taking clozapine were significantly more likely to be constipated versus other antipsychotics (OR 3.02 (CI: 1.91-4.77), p studies). Meta-regression identified two significant study-level factors associated with constipation prevalence: significantly higher (p = 0.02) rates of constipation were observed for those treated in inpatient versus outpatient or mixed settings and for those studies in which constipation was a primary or secondary outcome measure (36.9%) compared to studies in which constipation was not a specified outcome measure (24.8%, p = 0.048). Clozapine-associated constipation is common and approximately three times more likely than with other antipsychotics. Screening and preventative strategies should be established and appropriate symptomatic treatment applied when required.

  4. Comprehensive analysis of preeclampsia-associated DNA methylation in the placenta.

    Directory of Open Access Journals (Sweden)

    Tianjiao Chu

    Full Text Available A small number of recent reports have suggested that altered placental DNA methylation may be associated with early onset preeclampsia. It is important that further studies be undertaken to confirm and develop these findings. We therefore undertook a systematic analysis of DNA methylation patterns in placental tissue from 24 women with preeclampsia and 24 with uncomplicated pregnancy outcome.We analyzed the DNA methylation status of approximately 27,000 CpG sites in placental tissues in a massively parallel fashion using an oligonucleotide microarray. Follow up analysis of DNA methylation at specific CpG loci was performed using the Epityper MassArray approach and high-throughput bisulfite sequencing.Preeclampsia-specific DNA methylation changes were identified in placental tissue samples irrespective of gestational age of delivery. In addition, we identified a group of CpG sites within specific gene sequences that were only altered in early onset-preeclampsia (EOPET although these DNA methylation changes did not correlate with altered mRNA transcription. We found evidence that fetal gender influences DNA methylation at autosomal loci but could find no clear association between DNA methylation and gestational age.Preeclampsia is associated with altered placental DNA methylation. Fetal gender should be carefully considered during the design of future studies in which placental DNA is analyzed at the level of DNA methylation. Further large-scale analyses of preeclampsia-associated DNA methylation are necessary.

  5. Model-Based Multifactor Dimensionality Reduction for Rare Variant Association Analysis.

    Science.gov (United States)

    Fouladi, Ramouna; Bessonov, Kyrylo; Van Lishout, François; Van Steen, Kristel

    2015-01-01

    Genome-wide association studies have revealed a vast amount of common loci associated to human complex diseases. Still, a large proportion of heritability remains unexplained. The extent to which rare genetic variants (RVs) are able to explain a relevant portion of the genetic heritability for complex traits leaves room for several debates and paves the way to the collection of RV databases and the development of novel analytic tools to analyze these. To date, several statistical methods have been proposed to uncover the association of RVs with complex diseases, but none of them is the clear winner in all possible scenarios of study design and assumed underlying disease model. The latter may involve differences in the distributions of effect sizes, proportions of causal variants, and ratios of protective to deleterious variants at distinct regions throughout the genome. Therefore, there is a need for robust scalable methods with acceptable overall performance in terms of power and type I error under various realistic scenarios. In this paper, we propose a novel RV association analysis strategy, which satisfies several of the desired properties that a RV analysis tool should exhibit. 2015 S. Karger AG, Basel.

  6. Association of blood lipids with Alzheimer's disease: A comprehensive lipidomics analysis.

    Science.gov (United States)

    Proitsi, Petroula; Kim, Min; Whiley, Luke; Simmons, Andrew; Sattlecker, Martina; Velayudhan, Latha; Lupton, Michelle K; Soininen, Hillka; Kloszewska, Iwona; Mecocci, Patrizia; Tsolaki, Magda; Vellas, Bruno; Lovestone, Simon; Powell, John F; Dobson, Richard J B; Legido-Quigley, Cristina

    2017-02-01

    The aim of this study was to (1) replicate previous associations between six blood lipids and Alzheimer's disease (AD) (Proitsi et al 2015) and (2) identify novel associations between lipids, clinical AD diagnosis, disease progression and brain atrophy (left/right hippocampus/entorhinal cortex). We performed untargeted lipidomic analysis on 148 AD and 152 elderly control plasma samples and used univariate and multivariate analysis methods. We replicated our previous lipids associations and reported novel associations between lipids molecules and all phenotypes. A combination of 24 molecules classified AD patients with >70% accuracy in a test and a validation data set, and we identified lipid signatures that predicted disease progression (R 2  = 0.10, test data set) and brain atrophy (R 2  ≥ 0.14, all test data sets except left entorhinal cortex). We putatively identified a number of metabolic features including cholesteryl esters/triglycerides and phosphatidylcholines. Blood lipids are promising AD biomarkers that may lead to new treatment strategies. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  7. Association Analysis of TEC Polymorphisms with Aspirin-Exacerbated Respiratory Disease in a Korean Population.

    Science.gov (United States)

    Lee, Jin Sol; Bae, Joon Seol; Park, Byung-Lae; Cheong, Hyun Sub; Kim, Jeong-Hyun; Kim, Jason Yongha; Namgoong, Suhg; Kim, Ji-On; Park, Choon-Sik; Shin, Hyoung Doo

    2014-06-01

    The tyrosine-protein kinase Tec (TEC) is a member of non-receptor tyrosine kinases and has critical roles in cell signaling transmission, calcium mobilization, gene expression, and transformation. TEC is also involved in various immune responses, such as mast cell activation. Therefore, we hypothesized that TEC polymorphisms might be involved in aspirin-exacerbated respiratory disease (AERD) pathogenesis. We genotyped 38 TEC single nucleotide polymorphisms in a total of 592 subjects, which comprised 163 AERD cases and 429 aspirin-tolerant asthma controls. Logistic regression analysis was performed to examine the associations between TEC polymorphisms and the risk of AERD in a Korean population. The results revealed that TEC polymorphisms and major haplotypes were not associated with the risk of AERD. In another regression analysis for the fall rate of forced expiratory volume in 1 second (FEV1) by aspirin provocation, two variations (rs7664091 and rs12500534) and one haplotype (TEC_BL2_ht4) showed nominal associations with FEV1 decline (p = 0.03-0.04). However, the association signals were not retained after performing corrections for multiple testing. Despite TEC playing an important role in immune responses, the results from the present study suggest that TEC polymorphisms do not affect AERD susceptibility. Findings from the present study might contribute to the genetic etiology of AERD pathogenesis.

  8. Association between Toxoplasma gondii types and outcomes of human infection: A meta-analysis.

    Science.gov (United States)

    Xia, Jing; Cheng, Xin-Yu; Wang, Xiao-Jun; Peng, Hong-Juan

    2017-09-01

    The virulence and pathogenicity of various types of Toxoplasma gondii differ considerably in mice. Recent studies have claimed that similar phenomenon was observed in humans, but no relevant studies have been performed to validate this finding. In addition, reports showing association between a given T. gondii type and outcomes of human infection yielded conflicting results. To provide a more precise estimation of the association and a more reliable conclusion on this subject, we performed this meta-analysis. Relevant literatures were identified in multiple databases and selected based on strict screening. T. gondii-type proportions among different severities of infection were calculated and compared using Fisher's exact test. Pooled odds ratios (OR) were calculated. Our results showed that the difference among T. gondii-type proportions was significant (p < 0.0001). In addition, significant associations were detected between Type I strains infection and congenital toxoplasmosis (OR: 1.91, p = 0.0009), Type III strains infection and pulmonary toxoplasmosis (OR: 5.15, p = 0.04). In our subgroup analysis, Type I strains were significantly associated with cerebral toxoplasmosis in offspring (OR: 1.81, p = 0.02). This result indicated that different types of T. gondii exhibited different virulence and caused different outcomes in humans.

  9. Association analysis of polymorphisms of the CRHR1 gene with infantile spasms.

    Science.gov (United States)

    Yang, Guang; Zou, Li-Ping; Wang, Jing; Shi, Xiu-Yu; Yang, Xiao-Fan; Wang, Bin; Liu, Yu-Jie; Sun, Yan-Hong; Jia, Fei-Yong

    2015-08-01

    While >200 types of etiologies have been shown to be involved in the pathogenesis of infantile spasms, the pathophysiology of infantile spasms remains largely elusive. Pre-natal stress and hypothalamic-pituitary-adrenal axis dysfunction were shown to be involved in the development of infantile spasms. To test the genetic association between the CRHR1 gene, which encodes the corticotrophin-releasing hormone (CRH) receptor, and infantile spasms, five single nucleotide polymorphisms (SNPs) in the CRHR1 gene were genotyped in a sample set of 128 cases with infantile spasms and 131 healthy controls. Correlation analysis was performed on the genotyped data. Under the assumption of the dominant model, the selected five SNPs, rs4458044, rs171440, rs17689966, rs28364026 and rs242948, showed no association with the risk of infantile spasms and the effectiveness of adrenocorticotropic hormone treatment. In addition, subsequent haplotype analysis suggested none of them was associated with infantile spasms. In conclusion, the experimental results of the present study suggested no association between the CRHR1 gene and infantile spasms in a Chinese population.

  10. Genome-wide Association Analysis Tracks Bacterial Leaf Blight Resistance Loci In Rice Diverse Germplasm.

    Science.gov (United States)

    Dilla-Ermita, Christine Jade; Tandayu, Erwin; Juanillas, Venice Margarette; Detras, Jeffrey; Lozada, Dennis Nicuh; Dwiyanti, Maria Stefanie; Vera Cruz, Casiana; Mbanjo, Edwige Gaby Nkouaya; Ardales, Edna; Diaz, Maria Genaleen; Mendioro, Merlyn; Thomson, Michael J; Kretzschmar, Tobias

    2017-12-01

    A range of resistance loci against different races of Xanthomonas oryzae pv. oryzae (Xoo), the pathogen causing bacterial blight (BB) disease of rice, have been discovered and characterized. Several have been deployed in modern varieties, however, due to rapid evolution of Xoo, a number have already become ineffective. The continuous "arms race" between Xoo and rice makes it imperative to discover new resistance loci to enable durable deployment of multiple resistance genes in modern breeding lines. Rice diversity panels can be exploited as reservoirs of useful genetic variation for bacterial blight (BB) resistance. This study was conducted to identify loci associated to BB resistance, new genetic donors and useful molecular markers for marker-assisted breeding. A genome-wide association study (GWAS) of BB resistance using a diverse panel of 285 rice accessions was performed to identify loci that are associated with resistance to nine Xoo strains from the Philippines, representative of eight global races. Single nucleotide polymorphisms (SNPs) associated with differential resistance were identified in the diverse panel and a subset of 198 indica accessions. Strong associations were found for novel SNPs linked with known bacterial blight resistance Xa genes, from which high utility markers for tracking and selection of resistance genes in breeding programs were designed. Furthermore, significant associations of SNPs in chromosomes 6, 9, 11, and 12 did not overlap with known resistance loci and hence might prove to be novel sources of resistance. Detailed analysis revealed haplotypes that correlated with resistance and analysis of putative resistance alleles identified resistant genotypes as potential donors of new resistance genes. The results of the GWAS validated known genes underlying resistance and identified novel loci that provide useful targets for further investigation. SNP markers and genetic donors identified in this study will help plant breeders in

  11. Schizophrenia symptomatic associations with diffusion tensor imaging measured fractional anisotropy of brain: a meta-analysis.

    Science.gov (United States)

    Yang, Xu; Cao, Ding; Liang, Xiumei; Zhao, Jiannong

    2017-07-01

    Several studies have examined the relationships between diffusion tensor imaging (DTI)-measured fractional anisotropy (FA) and the symptoms of schizophrenia, but results vary across the studies. The aim of this study was to carry out a meta-analysis of correlation coefficients reported by relevant studies to evaluate the correlative relationships between FA of various parts of the brain and schizophrenia symptomatic assessments. Literature was searched in several electronic databases, and study selection was based on précised eligibility criteria. Correlation coefficients between FA of a part of the brain and schizophrenia symptom were first converted into Fisher's z-scores for meta-analyses, and then overall effect sizes were back transformed to correlation coefficients. Thirty-three studies (1121 schizophrenia patients; age 32.66 years [95% confidence interval (CI) 30.19, 35.13]; 65.95 % [57.63, 74.28] males) were included in this meta-analysis. Age was inversely associated with brain FA (z-scores [95% CI] -0.23 [-0.14, -0.32]; p ˂ 0.00001). Brain FA of various areas was inversely associated with negative symptoms of schizophrenia (z-score -0.30 [-0.23, -0.36]; p ˂ 0.00001) but was positively associated with positive symptoms of schizophrenia (z-score 0.16 [0.04, 0.27]; p = 0.007) and general psychopathology of schizophrenia (z-score 0.26 [0.15, 0.37]; p = 0.00001). Although, DTI-measured brain FA is found to be inversely associated with negative symptoms and positively associated with positive symptoms and general psychopathology of schizophrenia, the effect sizes of these correlations are low and may not be clinically significant. Moreover, brain FA was also negatively associated with age of patients.

  12. Schizophrenia symptomatic associations with diffusion tensor imaging measured fractional anisotropy of brain: a meta-analysis

    International Nuclear Information System (INIS)

    Yang, Xu; Cao, Ding; Liang, Xiumei; Zhao, Jiannong

    2017-01-01

    Several studies have examined the relationships between diffusion tensor imaging (DTI)-measured fractional anisotropy (FA) and the symptoms of schizophrenia, but results vary across the studies. The aim of this study was to carry out a meta-analysis of correlation coefficients reported by relevant studies to evaluate the correlative relationships between FA of various parts of the brain and schizophrenia symptomatic assessments. Literature was searched in several electronic databases, and study selection was based on precised eligibility criteria. Correlation coefficients between FA of a part of the brain and schizophrenia symptom were first converted into Fisher's z-scores for meta-analyses, and then overall effect sizes were back transformed to correlation coefficients. Thirty-three studies (1121 schizophrenia patients; age 32.66 years [95% confidence interval (CI) 30.19, 35.13]; 65.95 % [57.63, 74.28] males) were included in this meta-analysis. Age was inversely associated with brain FA (z-scores [95% CI] -0.23 [-0.14, -0.32]; p %<0.00001). Brain FA of various areas was inversely associated with negative symptoms of schizophrenia (z-score -0.30 [-0.23, -0.36]; p %<0.00001) but was positively associated with positive symptoms of schizophrenia (z-score 0.16 [0.04, 0.27]; p = 0.007) and general psychopathology of schizophrenia (z-score 0.26 [0.15, 0.37]; p = 0.00001). Although, DTI-measured brain FA is found to be inversely associated with negative symptoms and positively associated with positive symptoms and general psychopathology of schizophrenia, the effect sizes of these correlations are low and may not be clinically significant. Moreover, brain FA was also negatively associated with age of patients. (orig.)

  13. Association of sedentary behaviour with colon and rectal cancer: a meta-analysis of observational studies.

    Science.gov (United States)

    Cong, Y J; Gan, Y; Sun, H L; Deng, J; Cao, S Y; Xu, X; Lu, Z X

    2014-02-04

    Sedentary behaviour is ubiquitous in modern society. Emerging studies have focused on the health consequences of sedentary behaviour, including colorectal cancer, but whether sedentary behaviour is associated with the risks of colon and rectal cancer remains unclear. No systematic reviews have applied quantitative techniques to independently compute summary risk estimates. We aimed to conduct a meta-analysis to investigate this issue. We searched PubMed, Embase, and Google Scholar databases up to May 2013 to identify cohort and case-control studies that evaluated the association between sedentary behaviour and colon or rectal cancer. A random-effect model was used to pool the results of included studies. Publication bias was assessed by using Begg's funnel plot. Twenty-three studies with 63 reports were included in our meta-analysis. These groups included 4,324,462 participants (27,231 colon cancer cases and 13,813 rectal cancer cases). Sedentary behaviour was significantly associated with colon cancer (relative risk (RR): 1.30, 95% confidence interval (CI): 1.22-1.39) but did not have a statistically significant association with rectal cancer (RR 1.05, 95% CI, 0.98-1.13). Subgroup analyses suggested that the odds ratio (OR) of colon cancer was 1.46 (95% CI: 1.22-1.68) in the case-control studies, and the RR was 1.27 (95% CI: 1.18-1.36) in the cohort studies, the OR of rectal cancer was 1.06 (95% CI: 0.85-1.33) in the case-control studies, and the RR was 1.06 (95% CI, 1.01-1.12) in the cohort studies. Sedentary behaviour is associated with an increased risk of colon cancer. Subgroup analyses suggest a positive association between sedentary behaviour and risk of rectal cancer in cohort studies. Reducing sedentary behaviour is potentially important for the prevention of colorectal cancer.

  14. Schizophrenia symptomatic associations with diffusion tensor imaging measured fractional anisotropy of brain: a meta-analysis

    Energy Technology Data Exchange (ETDEWEB)

    Yang, Xu [Chongqing Medical University, Department of Medical Imaging, Second Affiliated Hospital, Chongqing (China); Fifth People' s Hospital of Chongqing, Department of Medical Imaging, Chongqing (China); Cao, Ding [Chongqing Medical University, Department of Hepatobiliary Surgery, Second Affiliated Hospital, Chongqing (China); Liang, Xiumei [Fifth People' s Hospital of Chongqing, Department of Medical Imaging, Chongqing (China); Zhao, Jiannong [Chongqing Medical University, Department of Medical Imaging, Second Affiliated Hospital, Chongqing (China)

    2017-07-15

    Several studies have examined the relationships between diffusion tensor imaging (DTI)-measured fractional anisotropy (FA) and the symptoms of schizophrenia, but results vary across the studies. The aim of this study was to carry out a meta-analysis of correlation coefficients reported by relevant studies to evaluate the correlative relationships between FA of various parts of the brain and schizophrenia symptomatic assessments. Literature was searched in several electronic databases, and study selection was based on precised eligibility criteria. Correlation coefficients between FA of a part of the brain and schizophrenia symptom were first converted into Fisher's z-scores for meta-analyses, and then overall effect sizes were back transformed to correlation coefficients. Thirty-three studies (1121 schizophrenia patients; age 32.66 years [95% confidence interval (CI) 30.19, 35.13]; 65.95 % [57.63, 74.28] males) were included in this meta-analysis. Age was inversely associated with brain FA (z-scores [95% CI] -0.23 [-0.14, -0.32]; p %<0.00001). Brain FA of various areas was inversely associated with negative symptoms of schizophrenia (z-score -0.30 [-0.23, -0.36]; p %<0.00001) but was positively associated with positive symptoms of schizophrenia (z-score 0.16 [0.04, 0.27]; p = 0.007) and general psychopathology of schizophrenia (z-score 0.26 [0.15, 0.37]; p = 0.00001). Although, DTI-measured brain FA is found to be inversely associated with negative symptoms and positively associated with positive symptoms and general psychopathology of schizophrenia, the effect sizes of these correlations are low and may not be clinically significant. Moreover, brain FA was also negatively associated with age of patients. (orig.)

  15. Metacognition in First Episode Psychosis: Item Level Analysis of Associations with Symptoms and Engagement.

    Science.gov (United States)

    MacBeth, Angus; Gumley, Andrew; Schwannauer, Matthias; Carcione, Antonino; McLeod, Hamish J; Dimaggio, Giancarlo

    2016-07-01

    Significant metacognitive impairments are observed in first episode psychosis (FEP) and chronic psychosis samples. There is evidence of associations between metacognition and presentation in FEP, but the relative contribution of metacognitive understanding of the self and the other is as yet unclear. The current study is a secondary analysis of date on metacognition, symptoms and engagement with treatment (help-seeking) in an FEP sample. In a cross-sectional cohort study, individuals in the first 12 months of treatment metacognition were assessed with the Metacognition Assessment Scale-Revised version (MAS-R). Psychotic symptomatology and help-seeking within treatment (clinician-rated service engagement) were also measured. An item level analysis of the MAS-R was conducted exploring associations between symptoms and cognitive, emotional, differentiation, integration and decentration aspects of metacognition. We report that associations between negative symptoms and deficits in the understanding of other's mental states extend across cognitive, emotional, integrative and decentration aspects of metacognition. We also report associations between negative symptoms and understanding one's own mind. We also note that cognitive and decentration aspects of metacognition were significantly associated with help-seeking once in treatment. Our findings suggest that an appreciation of metacognitive processes may inform treatment frameworks for FEP. Copyright © 2015 John Wiley & Sons, Ltd. Individual components of metacognition including the capacity to relate cognitive and emotional variables are important in first episode phychosis. Impaired metacognitive understanding of both one's own and others' mental states is associated with increased negative symptoms. Metacognitive variables may be important in understanding how different individuals seek help or engage with services after the initiation of treatment. Copyright © 2015 John Wiley & Sons, Ltd.

  16. Attributes associated with eye care use in the United States: a meta-analysis.

    Science.gov (United States)

    Wagner, Laura Danielle; Rein, David B

    2013-07-01

    To model the factors that are associated with the use of eye care services among the US population with and without diabetes, stratifying by age group. Meta-analysis. We analyzed data from 3 datasets: the Behavioral Risk Factors Surveillance System combined years 2006-2009, the National Health and Nutrition Examination Survey combined years 2005-2008, and the National Health Interview Survey year 2008. For all 3 datasets, we analyzed data from all survey participants aged 40 years or older who participated in vision-related survey modules. We performed multivariate logistic regression analyses to assess associations between any eye care use within the previous year and 14 indicators of patient demographics and health. We estimated separate regressions for persons with and without diabetes stratified by age group. We combined estimates across datasets using a random effects model estimated using Markov Chain Monte Carlo algorithms. Use of eye care in the previous year and personal factors associated with eye care use. Annual eye care use rates ranged from 46% to 51% in participants without diabetes and 64% to 72% in participants with diabetes. For people with and without diabetes, health insurance, an eye disease diagnosis, and higher income were associated with higher odds of eye care use. Being male was associated with lower odds of eye care use in some diabetes status and age group categories. Other variables, such as more education, being married, black race, Hispanic/Latino ethnicity, health status, heavy drinking, and limited ability to read small print, were associated with eye care use in only some diabetes status and age group categories. Our findings indicate that economic and ocular health factors are associated with the greatest odds of annual eye care use. Access to health insurance and income levels greater than $35 000 US dollars (value at the time of interview) are associated with eye care use independently of other demographic factors. Copyright

  17. Association analysis of the Cadherin13 gene with schizophrenia in the Japanese population

    Science.gov (United States)

    Otsuka, Ikuo; Watanabe, Yuichiro; Hishimoto, Akitoyo; Boku, Shuken; Mouri, Kentaro; Shiroiwa, Kyoichi; Okazaki, Satoshi; Nunokawa, Ayako; Shirakawa, Osamu; Someya, Toshiyuki; Sora, Ichiro

    2015-01-01

    Background Cadherin13 (CDH13) is a glycosylphosphatidylinositol-anchored cell adhesion molecule that plays a crucial role in morphogenesis and the maintenance of neuronal circuitry. CDH13 has been implicated in the susceptibility to a variety of psychiatric diseases. A recent genome-wide association study using Danish samples showed, for the first time, the involvement of a single nucleotide polymorphism (SNP) of CDH13 (intronic SNP rs8057927) in schizophrenia. Here, we investigated the association between other SNPs of CDH13 and schizophrenia and tried to replicate the association for the SNP of rs8057927, in the Japanese population. Methods Using TaqMan® SNP genotyping assays, five tag SNPs (rs12925602, rs7193788, rs736719, rs6565051, and rs7204454) in the promoter region of CDH13 were examined for their association with schizophrenia in two independent samples. The first sample comprised 665 patients and 760 controls, and the second sample comprised 677 patients and 667 controls. One tag SNP for rs8057927 was also examined for the association with schizophrenia in the first sample set. Results A GACAG haplotype of the five SNPs in the promoter region of CDH13 was significantly associated with schizophrenia in the first sample set (P=0.016 and corrected P=0.098). A combined analysis of the GACAG haplotype with the second sample set enhanced the significance (P=0.0026 and corrected P=0.021). We found no association between rs8057927 and schizophrenia in the first sample set. Conclusion Our results suggest that CDH13 may contribute to the genetic risk of schizophrenia. Further replication on the association of CDH13 with schizophrenia and functional studies are required to confirm the current findings. PMID:26082635

  18. Genome-wide pathway analysis identifies VEGF pathway association with oral ulceration in systemic lupus erythematosus.

    Science.gov (United States)

    Aterido, Adrià; Julià, Antonio; Carreira, Patricia; Blanco, Ricardo; López-Longo, José Javier; Venegas, José Javier Pérez; Olivé, Àlex; Andreu, José Luís; Aguirre-Zamorano, Maria Ángeles; Vela, Paloma; Nolla, Joan M; Marenco-de la Fuente, José Luís; Zea, Antonio; Pego, José María; Freire, Mercedes; Díez, Elvira; López-Lasanta, María; López-Corbeto, Mireia; Palau, Núria; Tortosa, Raül; Gelpí, Josep Lluís; Absher, Devin; Myers, Richard M; Fernández-Nebro, Antonio; Marsal, Sara

    2017-06-15

    Systemic lupus erythematosus (SLE) is a genetically complex rheumatic disease characterized by heterogeneous clinical manifestations of unknown etiology. Recent studies have suggested the existence of a genetic basis for SLE heterogeneity. The objective of the present study was to identify new genetic variation associated with the clinically relevant phenotypes in SLE. A two-stage pathway-based approach was used to identify the genetic variation associated with the main clinical phenotypes in SLE. In the discovery stage, 482 SLE patients were genotyped using Illumina Human Quad610 microarrays. Association between 798 reference genetic pathways from the Molecular Signatures Database and 11 SLE phenotypes was tested using the set-based method implemented in PLINK software. Pathways significantly associated after multiple test correction were subsequently tested for replication in an independent cohort of 425 SLE patients. Using an in silico approach, we analyzed the functional effects of common SLE therapies on the replicated genetic pathways. The association of known SLE risk variants with the development of the clinical phenotypes was also analyzed. In the discovery stage, we found a significant association between the vascular endothelial growth factor (VEGF) pathway and oral ulceration (P value for false discovery rate (P FDR ) oral ulceration. Therapies commonly used to treat mucocutaneous phenotypes in SLE were found to strongly influence VEGF pathway gene expression (P = 4.60e-4 to 5.38e-14). Analysis of known SLE risk loci identified a strong association between PTPN22 and the risk of hematologic disorder and with the development of antinuclear antibodies. The present study has identified VEGF genetic pathway association with the risk of oral ulceration in SLE. New therapies targeting the VEGF pathway could be more effective in reducing the severity of this phenotype. These findings represent a first step towards the understanding of the genetic basis

  19. The association between dietary zinc intake and risk of pancreatic cancer: a meta-analysis.

    Science.gov (United States)

    Li, Li; Gai, Xuesong

    2017-06-30

    Previous reports have suggested a potential association on dietary zinc intake with the risk of pancreatic cancer. Since the associations between different studies were controversial, we therefore conducted a meta-analysis to reassess the relationship between dietary zinc intake and pancreatic cancer risk. A comprehensive search from the databases of PubMed, Embase, Web of Science, and Medline was performed until January 31, 2017. Relative risk (RR) with 95% confidence intervals (CI) derived by using random effect model was used. Sensitivity analysis and publication bias were conducted. Our meta-analysis was based on seven studies involving 1659 cases, including two prospective cohort studies and five case-control studies. The total RR of pancreatic cancer risk for the highest versus the lowest categories of dietary zinc intake was 0.798 (0.621-0.984), with its significant heterogeneity among studies ( I 2 =58.2%, P =0.026). The average Newcastle-Ottawa scale (NOS) score was 7.29, suggesting a high quality. There was no publication bias in the meta-analysis about dietary zinc intake on the risk of pancreatic cancer. Subgroup analyses showed that dietary zinc intake could reduce the risk of pancreatic cancer in case-control studies and among American populations. In conclusion, we found that highest category of dietary zinc intake can significantly reduce the risk of pancreatic cancer, especially among American populations. © 2017 The Author(s).

  20. MadAnalysis Recast Code for Dark Matter Production in Association with Bottom Quarks

    CERN Document Server

    Biswas, Diptaparna

    The CMS-B2G-15-007 analysis was carried out to investigate the $pp\\rightarrow bb+DM$ process, which is a candidate process of direct Dark Matter production. In this particular work, this process is simulated and analyzed for 13 TeV LHC experiment using MadGraph, Pythia 8 and MadAnalysis C++ API. The recast code is written to reproduce the results obtained by the experimentalists in CMS-B2G-15-007 analysis. The result is interpreted within simplified scalar model in terms of the coupling between the mediator and the DM candidate and evaluated based on the MET distribution. CMS-B2G-15-007 uses a dataset of $2.17fb^{-1}$ of data collected by the CMS experiment in $\\sqrt{s}=13TeV$ proton-proton collisions at LHC. This analysis is sensitive also to DM production processes in association with top quarks. Results are reported as upper limits on the cross section for the b quark and top quark associated production independently, and interpreted within simplified models in terms of the coupling between the mediator an...

  1. Molecular analysis and pathology of a second pediatric HIV-associated Burkitt lymphoma.

    Science.gov (United States)

    Cabalo, Eve; Wilkinson, Robert; Lu, Nu T; Shimizu, Sheri; Melish, Marian; McClain, Kenneth L; Jenson, Hal B; Shiramizu, Bruce

    2002-01-01

    Diagnosis of a second HIV-associated non-Hodgkin lymphoma (HIV-NHL) is rare, but additional cases may occur as aggressive therapy for both HIV and NHL improves. An 11-year-old presented with a second primary HIV-NHL following remission for 9 years. Analysis of the tumor demonstrated presence of EBV and HIV with absence of CMV, HHV-8, and HHV-6. Although microscopic disease was present only in CSF, analysis of peripheral blood and bone marrow by PCR was positive. The patient underwent a stem cell transplant, but within 3 months, his disease recurred. Analysis for residual disease and viruses in similar cases may provide information in understanding pediatric HIV-NHL.

  2. Molecular analysis of childhood primitive neuroectodermal tumors defines markers associated with poor outcome

    DEFF Research Database (Denmark)

    Scheurlen, W G; Schwabe, G C; Joos, S

    1998-01-01

    PURPOSE: The diagnostic and prognostic significance of well-defined molecular markers was investigated in childhood primitive neuroectodermal tumors (PNET). MATERIALS AND METHODS: Using microsatellite analysis, Southern blot analysis, and fluorescence in situ hybridization (FISH), 30 primary tumors......: In our study, amplification of c-myc was a poor-prognosis marker in PNET. LOH of chromosome 17p was associated with metastatic disease. Molecular analysis of primary tumors using these markers may be useful for stratification of children with PNET in future prospective studies. The other aberrations...... frequently (14 of 30 tumors, six of six CSF metastasis specimens); LOH of chromosomes 10q, 16q22, 11, 6, 9q22, and 1q31 was observed in 20.6%, 20%, 14.3%, 12%, 10%, and 0%, respectively. Eight of 32 tumors and CSF specimens showed amplification of c-myc. All tumors with amplification of c-myc were resistant...

  3. Status of emission release and associated problems in energy systems analysis

    International Nuclear Information System (INIS)

    Yasukawa, Shigeru; Mankin, Shuichi; Sato, Osamu; Koyama, Shigeo; Ihara, Seijiro.

    1987-11-01

    OECD/IEA/ETSAP (Energy Technology System Analysis Project) has been started in March 1976. Since initiation of the projects, JAERI and ETL (Electrotechnical Laboratory) have been participating in the projects as operating agent of Japan. From last October, the ETSAP has initiated its Annex III programme, which pursues the problems laid down in energy-environment relationships. Main research objective of the programme is to investigate through the systems analysis ''how various environmental constrains would affect the pattern of fuel and technology use and the choice and timing of implementation of abatement technologies''. In this report, we describe the status of emission release in Japan and associated problems in energy system analysis which has been investigated at the start of these research programme mentioned above. (author)

  4. Phylogenetic analysis of local-scale tree soil associations in a lowland moist tropical forest.

    Directory of Open Access Journals (Sweden)

    Laura A Schreeg

    -wide signal. Trends highlighted in this analysis suggest how plant-soil associations may drive plant distributions and diversity at the local-scale.

  5. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

    Science.gov (United States)

    Voight, Benjamin F; Scott, Laura J; Steinthorsdottir, Valgerdur; Morris, Andrew P; Dina, Christian; Welch, Ryan P; Zeggini, Eleftheria; Huth, Cornelia; Aulchenko, Yurii S; Thorleifsson, Gudmar; McCulloch, Laura J; Ferreira, Teresa; Grallert, Harald; Amin, Najaf; Wu, Guanming; Willer, Cristen J; Raychaudhuri, Soumya; McCarroll, Steve A; Langenberg, Claudia; Hofmann, Oliver M; Dupuis, Josée; Qi, Lu; Segrè, Ayellet V; van Hoek, Mandy; Navarro, Pau; Ardlie, Kristin; Balkau, Beverley; Benediktsson, Rafn; Bennett, Amanda J; Blagieva, Roza; Boerwinkle, Eric; Bonnycastle, Lori L; Boström, Kristina Bengtsson; Bravenboer, Bert; Bumpstead, Suzannah; Burtt, Noisël P; Charpentier, Guillaume; Chines, Peter S; Cornelis, Marilyn; Couper, David J; Crawford, Gabe; Doney, Alex S F; Elliott, Katherine S; Elliott, Amanda L; Erdos, Michael R; Fox, Caroline S; Franklin, Christopher S; Ganser, Martha; Gieger, Christian; Grarup, Niels; Green, Todd; Griffin, Simon; Groves, Christopher J; Guiducci, Candace; Hadjadj, Samy; Hassanali, Neelam; Herder, Christian; Isomaa, Bo; Jackson, Anne U; Johnson, Paul R V; Jørgensen, Torben; Kao, Wen H L; Klopp, Norman; Kong, Augustine; Kraft, Peter; Kuusisto, Johanna; Lauritzen, Torsten; Li, Man; Lieverse, Aloysius; Lindgren, Cecilia M; Lyssenko, Valeriya; Marre, Michel; Meitinger, Thomas; Midthjell, Kristian; Morken, Mario A; Narisu, Narisu; Nilsson, Peter; Owen, Katharine R; Payne, Felicity; Perry, John R B; Petersen, Ann-Kristin; Platou, Carl; Proença, Christine; Prokopenko, Inga; Rathmann, Wolfgang; Rayner, N William; Robertson, Neil R; Rocheleau, Ghislain; Roden, Michael; Sampson, Michael J; Saxena, Richa; Shields, Beverley M; Shrader, Peter; Sigurdsson, Gunnar; Sparsø, Thomas; Strassburger, Klaus; Stringham, Heather M; Sun, Qi; Swift, Amy J; Thorand, Barbara; Tichet, Jean; Tuomi, Tiinamaija; van Dam, Rob M; van Haeften, Timon W; van Herpt, Thijs; van Vliet-Ostaptchouk, Jana V; Walters, G Bragi; Weedon, Michael N; Wijmenga, Cisca; Witteman, Jacqueline; Bergman, Richard N; Cauchi, Stephane; Collins, Francis S; Gloyn, Anna L; Gyllensten, Ulf; Hansen, Torben; Hide, Winston A; Hitman, Graham A; Hofman, Albert; Hunter, David J; Hveem, Kristian; Laakso, Markku; Mohlke, Karen L; Morris, Andrew D; Palmer, Colin N A; Pramstaller, Peter P; Rudan, Igor; Sijbrands, Eric; Stein, Lincoln D; Tuomilehto, Jaakko; Uitterlinden, Andre; Walker, Mark; Wareham, Nicholas J; Watanabe, Richard M; Abecasis, Gonçalo R; Boehm, Bernhard O; Campbell, Harry; Daly, Mark J; Hattersley, Andrew T; Hu, Frank B; Meigs, James B; Pankow, James S; Pedersen, Oluf; Wichmann, H-Erich; Barroso, Inês; Florez, Jose C; Frayling, Timothy M; Groop, Leif; Sladek, Rob; Thorsteinsdottir, Unnur; Wilson, James F; Illig, Thomas; Froguel, Philippe; van Duijn, Cornelia M; Stefansson, Kari; Altshuler, David; Boehnke, Michael; McCarthy, Mark I

    2011-01-01

    By combining genome-wide association data from 8,130 individuals with type 2 diabetes (T2D) and 38,987 controls of European descent and following up previously unidentified meta-analysis signals in a further 34,412 cases and 59,925 controls, we identified 12 new T2D association signals with combinedP < 5 × 10−8. These include a second independent signal at the KCNQ1 locus; the first report, to our knowledge, of an X-chromosomal association (near DUSP9); and a further instance of overlap between loci implicated in monogenic and multifactorial forms of diabetes (at HNF1A). The identified loci affect both beta-cell function and insulin action, and, overall, T2D association signals show evidence of enrichment for genes involved in cell cycle regulation. We also show that a high proportion of T2D susceptibility loci harbor independent association signals influencing apparently unrelated complex traits. PMID:20581827

  6. Profile Analysis of Psychological Symptoms Associated With Misophonia: A Community Sample.

    Science.gov (United States)

    McKay, Dean; Kim, Se-Kang; Mancusi, Lauren; Storch, Eric A; Spankovich, Christopher

    2018-03-01

    Misophonia is characterized by extreme aversive reactions to certain classes of sounds. It has recently been recognized as a condition associated with significant disability. Research has begun to evaluate psychopathological correlates of misophonia. This study sought to identify profiles of psychopathology that characterize misophonia in a large community sample. A total of N = 628 adult participants completed a battery of measures assessing anxiety and anxiety sensitivity, depression, stress responses, anger, dissociative experiences, obsessive-compulsive symptoms and beliefs, distress tolerance, bodily perceptions, as well as misophonia severity. Profile Analysis via Multidimensional Scaling (PAMS) was employed to evaluate profiles associated with elevated misophonia and those without symptoms. Three profiles were extracted. The first two accounted for 70% total variance and did not show distinctions between groups. The third profile accounted for 11% total variance, and showed that misophonia is associated with lower obsessive-compulsive symptoms for neutralizing, obsessions generally, and washing compared to those not endorsing misophonia, and higher levels of obsessive-compulsive symptoms associated with ordering and harm avoidance. This third profile extracted also showed significant differences between those with and without misophonia on the scale assessing physical concerns (that is, sensitivity to interoceptive sensations) as assessed with the ASI-3. Further research is called for involving diagnostic interviewing and experimental methods to clarify these putative mechanisms associated with misophonia. Copyright © 2017. Published by Elsevier Ltd.

  7. Acute respiratory failure associated with cryptococcosis in patients with AIDS: analysis of predictive factors.

    Science.gov (United States)

    Visnegarwala, F; Graviss, E A; Lacke, C E; Dural, A T; Johnson, P C; Atmar, R L; Hamill, R J

    1998-11-01

    The incidence of acute respiratory failure (ARF) associated with cryptococcal disease in patients with AIDS is underestimated in the literature. We performed a retrospective, case-control (referent) study to determine the prevalence of ARF associated with cryptococcal disease and analyzed associated factors. Potential cases of ARF were identified at four university-affiliated teaching hospitals from a cohort of 210 patients with AIDS who had positive cryptococcal antigen tests and/or Cryptococcus neoformans isolated from any body site. Twenty-nine of the 210 (13.8%) had ARF associated with cryptococcal disease. Nineteen were thought to have respiratory failure due solely to C. neoformans. The demographic, clinical, laboratory, treatment, and outcome data of 19 cases of respiratory failure were compared with data for 20 patients without respiratory failure. In-hospital mortality was 100% and median survival was 2 days for cases, vs. 25% and > 365 days, respectively, for referents. The clinical presentation was identical to that of Pneumocystis carinii pneumonia. In multivariate analysis, variables independently predictive of ARF in patients with cryptococcal disease were black race, a lactate dehydrogenase level of > or = 500 IU/L, the presence of interstitial infiltrates, and the presence of cutaneous lesions. ARF with cryptococcosis in patients with AIDS is associated with disseminated disease and high mortality. The diagnosis frequently is not considered before death. Serum cryptococcal antigen testing is a sensitive and rapid screening method.

  8. Meta-analysis of loci associated with age at natural menopause in African-American women

    Science.gov (United States)

    Chen, Christina T.L.; Liu, Ching-Ti; Chen, Gary K.; Andrews, Jeanette S.; Arnold, Alice M.; Dreyfus, Jill; Franceschini, Nora; Garcia, Melissa E.; Kerr, Kathleen F.; Li, Guo; Lohman, Kurt K.; Musani, Solomon K.; Nalls, Michael A.; Raffel, Leslie J.; Smith, Jennifer; Ambrosone, Christine B.; Bandera, Elisa V.; Bernstein, Leslie; Britton, Angela; Brzyski, Robert G.; Cappola, Anne; Carlson, Christopher S.; Couper, David; Deming, Sandra L.; Goodarzi, Mark O.; Heiss, Gerardo; John, Esther M.; Lu, Xiaoning; Le Marchand, Loic; Marciante, Kristin; Mcknight, Barbara; Millikan, Robert; Nock, Nora L.; Olshan, Andrew F.; Press, Michael F.; Vaiyda, Dhananjay; Woods, Nancy F.; Taylor, Herman A.; Zhao, Wei; Zheng, Wei; Evans, Michele K.; Harris, Tamara B.; Henderson, Brian E.; Kardia, Sharon L.R.; Kooperberg, Charles; Liu, Yongmei; Mosley, Thomas H.; Psaty, Bruce; Wellons, Melissa; Windham, Beverly G.; Zonderman, Alan B.; Cupples, L. Adrienne; Demerath, Ellen W.; Haiman, Christopher; Murabito, Joanne M.; Rajkovic, Aleksandar

    2014-01-01

    Age at menopause marks the end of a woman's reproductive life and its timing associates with risks for cancer, cardiovascular and bone disorders. GWAS and candidate gene studies conducted in women of European ancestry have identified 27 loci associated with age at menopause. The relevance of these loci to women of African ancestry has not been previously studied. We therefore sought to uncover additional menopause loci and investigate the relevance of European menopause loci by performing a GWAS meta-analysis in 6510 women with African ancestry derived from 11 studies across the USA. We did not identify any additional loci significantly associated with age at menopause in African Americans. We replicated the associations between six loci and age at menopause (P-value < 0.05): AMHR2, RHBLD2, PRIM1, HK3/UMC1, BRSK1/TMEM150B and MCM8. In addition, associations of 14 loci are directionally consistent with previous reports. We provide evidence that genetic variants influencing reproductive traits identified in European populations are also important in women of African ancestry residing in USA. PMID:24493794

  9. Metabolic Syndrome Is Associated with Increased Breast Cancer Risk: A Systematic Review with Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Ruchi Bhandari

    2014-01-01

    Full Text Available Background. Although individual metabolic risk factors are reported to be associated with breast cancer risk, controversy surrounds risk of breast cancer from metabolic syndrome (MS. We report the first systematic review and meta-analysis of the association between MS and breast cancer risk in all adult females. Methods. Studies were retrieved by searching four electronic reference databases [PubMed, Cumulative Index to Nursing and Allied Health Literature (CINAHL, Web of Science, and ProQuest through June 30, 2012] and cross-referencing retrieved articles. Eligible for inclusion were longitudinal studies reporting associations between MS and breast cancer risk among females aged 18 years and older. Relative risks and 95% confidence intervals were calculated for each study and pooled using random-effects models. Publication bias was assessed quantitatively (Trim and Fill and qualitatively (funnel plots. Heterogeneity was examined using Q and I2 statistics. Results. Representing nine independent cohorts and 97,277 adult females, eight studies met the inclusion criteria. A modest, positive association was observed between MS and breast cancer risk (RR: 1.47, 95% CI, 1.15–1.87; z=3.13; p=0.002; Q=26.28, p=0.001; I2=69.55%. No publication bias was observed. Conclusions. MS is associated with increased breast cancer risk in adult women.

  10. Power Estimation for Gene-Longevity Association Analysis Using Concordant Twins

    Directory of Open Access Journals (Sweden)

    Qihua Tan

    2014-01-01

    Full Text Available Statistical power is one of the major concerns in genetic association studies. Related individuals such as twins are valuable samples for genetic studies because of their genetic relatedness. Phenotype similarity in twin pairs provides evidence of genetic control over the phenotype variation in a population. The genetic association study on human longevity, a complex trait that is under control of both genetic and environmental factors, has been confronted by the small sample sizes of longevity subjects which limit statistical power. Twin pairs concordant for longevity have increased probability for carrying beneficial genes and thus are useful samples for gene-longevity association analysis. We conducted a computer simulation to estimate the power of association study using longevity concordant twin pairs. We observed remarkable power increases in using singletons from longevity concordant twin pairs as cases in comparison with cases of sporadic proband. A similar power would require doubled sample sizes for fraternal twins than for identical twins who are concordant for longevity suggesting that longevity concordant identical twins are more efficient samples than fraternal twins. We also observed an approximate of 2- to 3-fold increase in sample sizes needed for longevity cutoff at age 90 as compared with that at age 95. Overall, our results showed high value of twins in genetic association studies on human longevity.

  11. Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.

    Directory of Open Access Journals (Sweden)

    Cecilia M Lindgren

    2009-06-01

    Full Text Available To identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580 informative for adult waist circumference (WC and waist-hip ratio (WHR. We selected 26 SNPs for follow-up, for which the evidence of association with measures of central adiposity (WC and/or WHR was strong and disproportionate to that for overall adiposity or height. Follow-up studies in a maximum of 70,689 individuals identified two loci strongly associated with measures of central adiposity; these map near TFAP2B (WC, P = 1.9x10(-11 and MSRA (WC, P = 8.9x10(-9. A third locus, near LYPLAL1, was associated with WHR in women only (P = 2.6x10(-8. The variants near TFAP2B appear to influence central adiposity through an effect on overall obesity/fat-mass, whereas LYPLAL1 displays a strong female-only association with fat distribution. By focusing on anthropometric measures of central obesity and fat distribution, we have identified three loci implicated in the regulation of human adiposity.

  12. Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution

    Science.gov (United States)

    Qi, Lu; Speliotes, Elizabeth K.; Thorleifsson, Gudmar; Willer, Cristen J.; Herrera, Blanca M.; Jackson, Anne U.; Lim, Noha; Scheet, Paul; Soranzo, Nicole; Amin, Najaf; Aulchenko, Yurii S.; Chambers, John C.; Drong, Alexander; Luan, Jian'an; Lyon, Helen N.; Rivadeneira, Fernando; Sanna, Serena; Timpson, Nicholas J.; Zillikens, M. Carola; Zhao, Jing Hua; Almgren, Peter; Bandinelli, Stefania; Bennett, Amanda J.; Bergman, Richard N.; Bonnycastle, Lori L.; Bumpstead, Suzannah J.; Chanock, Stephen J.; Cherkas, Lynn; Chines, Peter; Coin, Lachlan; Cooper, Cyrus; Crawford, Gabriel; Doering, Angela; Dominiczak, Anna; Doney, Alex S. F.; Ebrahim, Shah; Elliott, Paul; Erdos, Michael R.; Estrada, Karol; Ferrucci, Luigi; Fischer, Guido; Forouhi, Nita G.; Gieger, Christian; Grallert, Harald; Groves, Christopher J.; Grundy, Scott; Guiducci, Candace; Hadley, David; Hamsten, Anders; Havulinna, Aki S.; Hofman, Albert; Holle, Rolf; Holloway, John W.; Illig, Thomas; Isomaa, Bo; Jacobs, Leonie C.; Jameson, Karen; Jousilahti, Pekka; Karpe, Fredrik; Kuusisto, Johanna; Laitinen, Jaana; Lathrop, G. Mark; Lawlor, Debbie A.; Mangino, Massimo; McArdle, Wendy L.; Meitinger, Thomas; Morken, Mario A.; Morris, Andrew P.; Munroe, Patricia; Narisu, Narisu; Nordström, Anna; Nordström, Peter; Oostra, Ben A.; Palmer, Colin N. A.; Payne, Felicity; Peden, John F.; Prokopenko, Inga; Renström, Frida; Ruokonen, Aimo; Salomaa, Veikko; Sandhu, Manjinder S.; Scott, Laura J.; Scuteri, Angelo; Silander, Kaisa; Song, Kijoung; Yuan, Xin; Stringham, Heather M.; Swift, Amy J.; Tuomi, Tiinamaija; Uda, Manuela; Vollenweider, Peter; Waeber, Gerard; Wallace, Chris; Walters, G. Bragi; Weedon, Michael N.; Witteman, Jacqueline C. M.; Zhang, Cuilin; Zhang, Weihua; Caulfield, Mark J.; Collins, Francis S.; Davey Smith, George; Day, Ian N. M.; Franks, Paul W.; Hattersley, Andrew T.; Hu, Frank B.; Jarvelin, Marjo-Riitta; Kong, Augustine; Kooner, Jaspal S.; Laakso, Markku; Lakatta, Edward; Mooser, Vincent; Morris, Andrew D.; Peltonen, Leena; Samani, Nilesh J.; Spector, Timothy D.; Strachan, David P.; Tanaka, Toshiko; Tuomilehto, Jaakko; Uitterlinden, André G.; van Duijn, Cornelia M.; Wareham, Nicholas J.; Watkins for the PROCARDIS consortia, Hugh; Waterworth, Dawn M.; Boehnke, Michael; Deloukas, Panos; Groop, Leif; Hunter, David J.; Thorsteinsdottir, Unnur; Schlessinger, David; Wichmann, H.-Erich; Frayling, Timothy M.; Abecasis, Gonçalo R.; Hirschhorn, Joel N.; Loos, Ruth J. F.; Stefansson, Kari; Mohlke, Karen L.; Barroso, Inês; McCarthy for the GIANT consortium, Mark I.

    2009-01-01

    To identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist circumference (WC) and waist–hip ratio (WHR). We selected 26 SNPs for follow-up, for which the evidence of association with measures of central adiposity (WC and/or WHR) was strong and disproportionate to that for overall adiposity or height. Follow-up studies in a maximum of 70,689 individuals identified two loci strongly associated with measures of central adiposity; these map near TFAP2B (WC, P = 1.9×10−11) and MSRA (WC, P = 8.9×10−9). A third locus, near LYPLAL1, was associated with WHR in women only (P = 2.6×10−8). The variants near TFAP2B appear to influence central adiposity through an effect on overall obesity/fat-mass, whereas LYPLAL1 displays a strong female-only association with fat distribution. By focusing on anthropometric measures of central obesity and fat distribution, we have identified three loci implicated in the regulation of human adiposity. PMID:19557161

  13. Molecular Analysis and Clinical Significance of Lactobacillus spp. Recovered from Clinical Specimens Presumptively Associated with Disease

    Science.gov (United States)

    Martinez, Raquel M.; Hulten, Kristina G.; Bui, Uyen

    2014-01-01

    Lactobacillus spp. are part of the normal human flora and are generally assumed to be nonpathogenic. We determined the genotypic identification of >100 Lactobacillus isolates from clinical specimens in the context of presumed pathogenic potential (e.g., recovered as the single/predominant isolate from a sterile site or at ≥105 CFU/ml from urine). This study assessed the clinical significance and the frequency of occurrence of each Lactobacillus sp. We identified 16 species of Lactobacillus by 16S rRNA gene sequence analysis, 10 of which could not be associated with disease. While Lactobacillus rhamnosus, Lactobacillus gasseri, and Lactobacillus paracasei were associated with infections, L. gasseri was also a common colonizing/contaminating species. Lactobacillus casei, Lactobacillus johnsonii, and Lactobacillus delbrueckii were associated with at least one infection. Species commonly used in probiotic products (e.g., L. rhamnosus and L. casei) were identical, by 16S rRNA gene sequencing, to our isolates associated with disease. Human isolates of Lactobacillus spp. have differing site associations and levels of clinical significance. Knowing the niche and pathogenic potential of each Lactobacillus sp. can be of importance to both clinical microbiology and the food and probiotic supplement industry. PMID:24131686

  14. Association between Smokefree Legislation and Hospitalizations for Cardiac, Cerebrovascular and Respiratory Diseases: A Meta-Analysis

    Science.gov (United States)

    Tan, Crystal E.; Glantz, Stanton A.

    2012-01-01

    Background Secondhand smoke causes cardiovascular and respiratory disease. Smokefree legislation is associated with a lower risk of hospitalization and death from these diseases. Methods and Results Random effects meta-analysis was conducted by law comprehensiveness to determine the relationship between smokefree legislation and hospital admission or death from cardiac, cerebrovascular, and respiratory diseases. Studies were identified using a systematic search for studies published before November 30, 2011 using Science Citation Index, Google Scholar, PubMed, and Embase and references in identified papers. Change in hospital admissions (or deaths) in the presence of a smokefree law, duration of follow-up, and law comprehensiveness (workplaces only; workplaces and restaurants; or workplaces, restaurants, and bars) were recorded. Forty-five studies of 33 smokefree laws with median follow-up of 24 months (range 2–57 months) were included. Comprehensive smokefree legislation was associated with significantly lower rates of hospital admissions (or deaths) for all 4 diagnostic groups: coronary events (RR .848, 95% CI .816–.881), other heart disease (RR .610, 95% CI .440–.847), cerebrovascular accidents (RR .840, 95% CI .753–.936), and respiratory disease (RR .760, 95% CI .682–.846). The difference in risk following comprehensive smokefree laws does not change with longer follow-up. More comprehensive laws were associated with larger changes in risk. Conclusions Smokefree legislation was associated with a lower risk of smoking-related cardiac, cerebrovascular, and respiratory diseases, with more comprehensive laws associated with greater changes in risk. PMID:23109514

  15. Are Shunt Revisions Associated with IQ in Congenital Hydrocephalus? A Meta -Analysis.

    Science.gov (United States)

    Arrington, C Nikki; Ware, Ashley L; Ahmed, Yusra; Kulesz, Paulina A; Dennis, Maureen; Fletcher, Jack M

    2016-12-01

    Although it is generally acknowledged that shunt revisions are associated with reductions in cognitive functions in individuals with congenital hydrocephalus, the literature yields mixed results and is inconclusive. The current study used meta-analytic methods to empirically synthesize studies addressing the association of shunt revisions and IQ in individuals with congenital hydrocephalus. Six studies and three in-house datasets yielded 11 independent samples for meta-analysis. Groups representing lower and higher numbers of shunt revisions were coded to generate effect sizes for differences in IQ scores. Mean effect size across studies was statistically significant, but small (Hedges' g = 0.25, p IQ scores. Results show an association of lower IQ and more shunt revisions of about 3 IQ points, a small effect, but within the error of measurement associated with IQ tests. Although clinical significance of this effect is not clear, results suggest that repeated shunt revisions because of shunt failure is associated with a reduction in cognitive functions.

  16. Analysis of risk factors associated with unplanned reoperations following pediatric plastic surgery.

    Science.gov (United States)

    Jubbal, Kevin T; Zavlin, Dmitry; Buchanan, Edward P; Hollier, Larry H

    2017-10-01

    Unplanned reoperation (UR) is an outcome measure with multiple advantages that can be used as a standardized tool to assess an institution's quality and safety of medical care. This study aimed to identify parameters associated with an increased likelihood of UR following plastic surgery in patients less than 18 years of age by using a large validated national multicenter database. We performed a retrospective analysis of the American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP) Pediatric database between 2012 and 2014 to identify pediatric patients undergoing primary plastic surgery procedures. Two cohorts were compared: patients who experienced UR and those who did not. Multiple logistic regression analysis was utilized to identify independent risk factors associated with UR. A total of 18,106 patients were identified in this analysis, with an overall UR rate of 0.8% (n = 137) within 30 days after surgery. Patients were on average 5.59 ± 5.27 years of age with 9522 boys (52.6%) and 8584 girls (47.4%). The procedures most commonly associated with UR were excision of skin and subcutaneous tissue for hidradenitis (UR = 10.3%), forehead, and/or supraorbital rim reconstruction with grafts (allograft or prosthetic material, UR = 6.1%), use of multiplane external fixators (UR = 5.6%), mastectomy for gynecomastia (UR = 4.4%), and forehead and/or supraorbital rim reconstruction with autograft (3.3%). The average number of relative value units per case was 10.01 ± 7.91. Independent risk factors for UR include inpatient procedure (p plastic surgery. These results may aid in the informed consent process, improve patient risk assessment, counseling, and surgical planning. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  17. Revealing the association between cerebrovascular accidents and ambient temperature: a meta-analysis

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    Zorrilla-Vaca, Andrés; Healy, Ryan Jacob; Silva-Medina, Melissa M.

    2017-05-01

    The association between cerebrovascular accidents (CVA) and weather has been described across several studies showing multiple conflicting results. In this paper, we aim to conduct a meta-analysis to further clarify this association, as well as to find the potential sources of heterogeneity. PubMed, EMBASE, and Google Scholar were searched from inception through 2015, for articles analyzing the correlation between the incidence of CVA and temperature. A pooled effect size (ES) was estimated using random effects model and expressed as absolute values. Subgroup analyses by type of CVA were also performed. Heterogeneity and influence of covariates—including geographic latitude of the study site, male percentage, average temperature, and time interval—were assessed by meta-regression analysis. Twenty-six articles underwent full data extraction and scoring. A total of 19,736 subjects with CVA from 12 different countries were included and grouped as ischemic strokes (IS; n = 14,199), intracerebral hemorrhages (ICH; n = 3798), and subarachnoid hemorrhages (SAH; n = 1739). Lower ambient temperature was significantly associated with increase in incidence of overall CVA when using unadjusted (pooled ES = 0.23, P < 0.001) and adjusted data (pooled ES = 0.03, P = 0.003). Subgroup analyses showed that lower temperature has higher impact on the incidence of ICH (pooled ES = 0.34, P < 0.001), than that of IS (pooled ES = 0.22, P < 0.001) and SAH (pooled ES = 0.11, P = 0.012). In meta-regression analysis, the geographic latitude of the study site was the most influencing factor on this association ( Z-score = 8.68). Synthesis of the existing data provides evidence supporting that a lower ambient temperature increases the incidence of CVA. Further population-based studies conducted at negative latitudes are needed to clarify the influence of this factor.

  18. Advanced maternal age and its association with placenta praevia and placental abruption: a meta-analysis

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    Katrini Guidolini Martinelli

    2018-02-01

    Full Text Available This study aimed to investigate the existence and magnitude of the association between advanced maternal age (AMA and occurrence of placenta praevia (PP and placental abruption (PA among nulliparous and multiparous women, by a systematic review and meta-analysis. We searched articles published between January 1, 2005 and December 31, 2015, in any language, in the following databases: PubMed, Scopus, Web of Science, and LILACS. Women were grouped into two age categories: up to 34 years old and 35 years or older. The Newcastle-Ottawa Scale was used to evaluate the methodological quality of the studies. A meta-analysis was conducted for the PP and PA outcomes, using a meta-regression model to find possible covariates associated with heterogeneity among the studies and Egger’s test to assess publication bias. The protocol of this systematic review was registered in the International Prospective Register of Systematic Reviews (PROSPERO system (CRD42016045594. Twenty-three studies met the criteria and were included in the meta-analysis. For both outcomes, an increase in age increased the magnitude of association strength, and PP (OR = 3.16, 95%CI: 2.79-3.57 was more strongly associated with AMA than PA (OR = 1.44, 95%CI: 1.35-1.54. For parity, there was no difference between nulliparous and multiparous women considered older for the PP and PA outcomes. Our review provided very low-quality evidence for both outcomes, since it encompasses observational studies with high statistical heterogeneity, diversity of populations, no control of confounding factors in several cases, and publication bias. However, the confidence intervals were small and there is a dose-response gradient, as well as a large magnitude of effect for PP.

  19. Higher Caffeinated Coffee Intake Is Associated with Reduced Malignant Melanoma Risk: A Meta-Analysis Study.

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    Jibin Liu

    Full Text Available Several epidemiological studies have determined the associations between coffee intake level and skin cancer risk; however, the results were not yet conclusive. Herein, we conducted a systematic review and meta-analysis of the cohort and case-control studies for the association between coffee intake level and malignant melanoma (MM risk.Studies were identified through searching the PubMed and MEDLINE databases (to November, 2015. Study-specific risk estimates were pooled under the random-effects model.Two case-control studies (846 MM patients and 843 controls and five cohort studies (including 844,246 participants and 5,737 MM cases were identified. For caffeinated coffee, the pooled relative risk (RR of MM was 0.81 [95% confidential interval (95% CI = 0.68-0.97; P-value for Q-test = 0.003; I2 = 63.5%] for those with highest versus lowest quantity of intake. In the dose-response analysis, the RR of MM was 0.955 (95% CI = 0.912-0.999 for per 1 cup/day increment of caffeinated coffee consumption and linearity dose-response association was found (P-value for nonlinearity = 0.326. Strikingly, no significant association was found between the decaffeinated coffee intake level and MM risk (pooled RR = 0.92, 95% CI = 0.81-1.05; P-value for Q-test = 0.967; I2 = 0%; highest versus lowest quantity of intake.This meta-analysis suggested that caffeinated coffee might have chemo-preventive effects against MM but not decaffeinated coffee. However, larger prospective studies and the intervention studies are warranted to confirm these findings.

  20. Association genetics and transcriptome analysis reveal a gibberellin-responsive pathway involved in regulating photosynthesis.

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    Xie, Jianbo; Tian, Jiaxing; Du, Qingzhang; Chen, Jinhui; Li, Ying; Yang, Xiaohui; Li, Bailian; Zhang, Deqiang

    2016-05-01

    Gibberellins (GAs) regulate a wide range of important processes in plant growth and development, including photosynthesis. However, the mechanism by which GAs regulate photosynthesis remains to be understood. Here, we used multi-gene association to investigate the effect of genes in the GA-responsive pathway, as constructed by RNA sequencing, on photosynthesis, growth, and wood property traits, in a population of 435 Populus tomentosa By analyzing changes in the transcriptome following GA treatment, we identified many key photosynthetic genes, in agreement with the observed increase in measurements of photosynthesis. Regulatory motif enrichment analysis revealed that 37 differentially expressed genes related to photosynthesis shared two essential GA-related cis-regulatory elements, the GA response element and the pyrimidine box. Thus, we constructed a GA-responsive pathway consisting of 47 genes involved in regulating photosynthesis, including GID1, RGA, GID2, MYBGa, and 37 photosynthetic differentially expressed genes. Single nucleotide polymorphism (SNP)-based association analysis showed that 142 SNPs, representing 40 candidate genes in this pathway, were significantly associated with photosynthesis, growth, and wood property traits. Epistasis analysis uncovered interactions between 310 SNP-SNP pairs from 37 genes in this pathway, revealing possible genetic interactions. Moreover, a structural gene-gene matrix based on a time-course of transcript abundances provided a better understanding of the multi-gene pathway affecting photosynthesis. The results imply a functional role for these genes in mediating photosynthesis, growth, and wood properties, demonstrating the potential of combining transcriptome-based regulatory pathway construction and genetic association approaches to detect the complex genetic networks underlying quantitative traits. © The Author 2016. Published by Oxford University Press on behalf of the Society for Experimental Biology. All rights

  1. Higher Caffeinated Coffee Intake Is Associated with Reduced Malignant Melanoma Risk: A Meta-Analysis Study

    Science.gov (United States)

    Liu, Jibin; Shen, Biao; Shi, Minxin; Cai, Jing

    2016-01-01

    Background Several epidemiological studies have determined the associations between coffee intake level and skin cancer risk; however, the results were not yet conclusive. Herein, we conducted a systematic review and meta-analysis of the cohort and case-control studies for the association between coffee intake level and malignant melanoma (MM) risk. Methods Studies were identified through searching the PubMed and MEDLINE databases (to November, 2015). Study-specific risk estimates were pooled under the random-effects model. Results Two case-control studies (846 MM patients and 843 controls) and five cohort studies (including 844,246 participants and 5,737 MM cases) were identified. For caffeinated coffee, the pooled relative risk (RR) of MM was 0.81 [95% confidential interval (95% CI) = 0.68–0.97; P-value for Q-test = 0.003; I2 = 63.5%] for those with highest versus lowest quantity of intake. In the dose-response analysis, the RR of MM was 0.955 (95% CI = 0.912–0.999) for per 1 cup/day increment of caffeinated coffee consumption and linearity dose-response association was found (P-value for nonlinearity = 0.326). Strikingly, no significant association was found between the decaffeinated coffee intake level and MM risk (pooled RR = 0.92, 95% CI = 0.81–1.05; P-value for Q-test = 0.967; I2 = 0%; highest versus lowest quantity of intake). Conclusions This meta-analysis suggested that caffeinated coffee might have chemo-preventive effects against MM but not decaffeinated coffee. However, larger prospective studies and the intervention studies are warranted to confirm these findings. PMID:26816289

  2. Association between cadmium exposure and urolithiasis risk: A systematic review and meta-analysis.

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    Guo, Zhen-Lang; Wang, Jun-Yue; Gong, Lei-Liang; Gan, Shu; Gu, Chi-Ming; Wang, Shu-Sheng

    2018-01-01

    We performed a meta-analysis to determine whether a consistent relationship exists between cadmium exposure and urolithiasis in humans. Accordingly, we summarized and reviewed previously published quantitative studies. Eligible studies with reference lists published before June 1, 2017 were obtained from searching several databases. Random effects models were used to summary the overall estimate of the multivariate adjusted odds ratios (ORs) with 95% confidence intervals (CIs). Six observational studies involving 88,045 participants were identified and stratified into the following categories according to cadmium assessment results: occupational (n = 4) and dietary (n = 2). The findings of the meta-analysis suggested that the risk of urolithiasis increases significantly by 1.32 times at higher cadmium exposure (OR = 1.32; 95% CI = 1.08-1.62; for highest vs lowest category urinary cadmium values). The summary OR in occupational exposure (OR = 1.56; 95% CI = 1.13-2.14) increased at the same condition. Meanwhile, no association was observed between cadmium exposure and urolithiasis risk in dietary exposure (OR = 1.13; 95% CI = 0.87-1.47). A significant association remained consistent, as indicated by subgroup analyses and sensitivity analyses. The meta-analysis indicated that increased risk of urolithiasis is associated with high cadmium exposure, and this association is higher in occupational exposure than in dietary exposure. Nevertheless, well-designed observational studies with different ethnic populations are still needed. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  3. Insights into pancreatic cancer etiology from pathway analysis of genome-wide association study data.

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    Peng Wei

    Full Text Available Pancreatic cancer is the fourth leading cause of cancer death in the U.S. and the etiology of this highly lethal disease has not been well defined. To identify genetic susceptibility factors for pancreatic cancer, we conducted pathway analysis of genome-wide association study (GWAS data in 3,141 pancreatic cancer patients and 3,367 controls with European ancestry.Using the gene set ridge regression in association studies (GRASS method, we analyzed 197 pathways identified from the Kyoto Encyclopedia of Genes and Genomes database. We used the logistic kernel machine (LKM test to identify major contributing genes to each pathway. We conducted functional enrichment analysis of the most significant genes (P<0.01 using the Database for Annotation, Visualization, and Integrated Discovery (DAVID.Two pathways were significantly associated with risk of pancreatic cancer after adjusting for multiple comparisons (P<0.00025 and in replication testing: neuroactive ligand-receptor interaction, (Ps<0.00002, and the olfactory transduction pathway (P = 0.0001. LKM test identified four genes that were significantly associated with risk of pancreatic cancer after Bonferroni correction (P<1×10(-5: ABO, HNF1A, OR13C4, and SHH. Functional enrichment analysis using DAVID consistently found the G protein-coupled receptor signaling pathway (including both neuroactive ligand-receptor interaction and olfactory transduction pathways to be the most significant pathway for pancreatic cancer risk in this study population.These novel findings provide new perspectives on genetic susceptibility to and molecular mechanisms of pancreatic cancer.

  4. Exploring factors associated with traumatic dental injuries in preschool children: a Poisson regression analysis.

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    Feldens, Carlos Alberto; Kramer, Paulo Floriani; Ferreira, Simone Helena; Spiguel, Mônica Hermann; Marquezan, Marcela

    2010-04-01

    This cross-sectional study aimed to investigate the factors associated with dental trauma in preschool children using Poisson regression analysis with robust variance. The study population comprised 888 children aged 3- to 5-year-old attending public nurseries in Canoas, southern Brazil. Questionnaires assessing information related to the independent variables (age, gender, race, mother's educational level and family income) were completed by the parents. Clinical examinations were carried out by five trained examiners in order to assess traumatic dental injuries (TDI) according to Andreasen's classification. One of the five examiners was calibrated to assess orthodontic characteristics (open bite and overjet). Multivariable Poisson regression analysis with robust variance was used to determine the factors associated with dental trauma as well as the strengths of association. Traditional logistic regression was also performed in order to compare the estimates obtained by both methods of statistical analysis. 36.4% (323/888) of the children suffered dental trauma and there was no difference in prevalence rates from 3 to 5 years of age. Poisson regression analysis showed that the probability of the outcome was almost 30% higher for children whose mothers had more than 8 years of education (Prevalence Ratio = 1.28; 95% CI = 1.03-1.60) and 63% higher for children with an overjet greater than 2 mm (Prevalence Ratio = 1.63; 95% CI = 1.31-2.03). Odds ratios clearly overestimated the size of the effect when compared with prevalence ratios. These findings indicate the need for preventive orientation regarding TDI, in order to educate parents and caregivers about supervising infants, particularly those with increased overjet and whose mothers have a higher level of education. Poisson regression with robust variance represents a better alternative than logistic regression to estimate the risk of dental trauma in preschool children.

  5. Association between psychosocial stress and hypertension: a systematic review and meta-analysis.

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    Liu, Mei-Yan; Li, Na; Li, William A; Khan, Hajra

    2017-06-01

    The etiology of hypertension is various and complex, involving both genetic and behavioral factors. The relationship between psychosocial stress and hypertension has been hypothesized. More and more people experience increased anxiety, depression, and chronic psychosocial stress brought on by globalization, cultural changes, socioeconomic changes, and stress at the work place. Although a plethora of studies have investigated the interaction between psychosocial stress and hypertension, this relationship is still contentious. The objective of this study is twofold. First, a review of recent advancements in our understanding of the relationship between psychosocial stress and hypertension. Second, a meta-analysis aiming to assess the relationship between chronic psychosocial stress and blood pressure. We systematically searched and identified relevant studies from five databases, including PubMed, Cochrane Library, China National Knowledge Infrastructure (CNKI), CQVIP, and the Wanfang Database until April 2016. Eleven studies encompassing 5696 participants were included in the final analysis. Data showed that psychosocial stress was associated with an increased risk of hypertension (OR = 2.40, 95% CI = 1.65-3.49), and hypertensive patients had a higher incidence of psychosocial stress compared to normotension patients (OR = 2.69, 95% CI = 2.32-3.11). Based on our meta-analysis, chronic psychosocial stress may be a risk factor for hypertension. The few cohort and case-control studies on the association between psychosocial stress and hypertension employed variable definition of stressors and the responses, making the meta-analysis difficult. Although we found an association between chronic psychosocial stress and hypertension, more studies are needed to confirm this relationship.

  6. Association between depression and resilience in older adults: a systematic review and meta-analysis.

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    Wermelinger Ávila, Maria Priscila; Lucchetti, Alessandra Lamas Granero; Lucchetti, Giancarlo

    2017-03-01

    The objective of this study is to determine whether resilience is associated with depressive symptoms in geriatric populations. A systematic review and meta-analysis were performed (up to March 2015) following the Preferred Reporting Items for Systematic Reviews and Meta-analysis recommendations on three databases (PubMed/Medline, Scopus, and Web of Science) with no language restrictions, using a Boolean expression. For inclusion in the study, articles had to assess the older population (60 years or older), assess both depressive and resilience symptoms, and investigate the association between these two variables. Articles not employing validated resilience and depression scales or assessing populations younger than 60 years were excluded. The quality of the selected studies was assessed using the Quality Assessment Tool for Quantitative Studies. A total of 1094 articles were retrieved from the three databases, 367 of which were duplicates and therefore excluded, giving 727 articles for analysis. Of these articles, seven met the eligibility criteria. All of the included articles were observational and cross-sectional, found an inverse relationship between depression and resilience, and were conducted in three countries: the USA, China, and Belgium. A moderate inverse correlation was found on the meta-analysis (r = -0.35, 95% confidence interval: -0.41 to -0.28). Few studies were found on this subject in the older population. An association between greater resilience and less depressive symptomatology was identified, albeit based on cross-sectional studies. These results highlight the need for further studies in the area and the importance of fostering the use of interventions to promote resilience in older adults as a means of preventing and managing depressive symptoms in this population. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  7. College Students’ Drinking Motives and Social-Contextual Factors: Comparing Associations across Levels of Analysis

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    O'Hara, Ross E.; Armeli, Stephen; Tennen, Howard

    2014-01-01

    Prior investigations have established between-person associations between drinking motives and both levels of alcohol use and social-contextual factors surrounding that use, but these relations have yet to be examined at the within-person level of analysis. Moreover, exploring previously posited subtypes of coping motives (i.e., coping with depression, anxiety, and anger) may shed light on the within-person processes underlying drinking to cope. In this daily diary study of college student drinking (N = 722; 54% female), students reported each day how many drinks they consumed the previous evening in both social and nonsocial settings along with their motives for each drinking episode. Additionally, they reported whether they attended a party the evening before, the number of people they were with, the gender makeup of that group, and their perceptions of their companions’ drinking prevalence and quantity. External reasons for drinking—social and conformity motives—showed patterns largely consistent across levels of analysis and in agreement with motivational models. However, internal reasons for drinking—enhancement and coping motives—demonstrated divergent associations that suggest different processes across levels of analysis. Finally, coping subtypes showed differing associations with drinking levels and social-contextual factors dependent on the predisposing emotion and the level of analysis. These results suggest that internal drinking motives have unique state and trait components, which could have important implications for the application of motivational models to prevention and treatment efforts. We recommend including drinking motives (including coping subtypes) as within-person measures in future micro-longitudinal studies. PMID:25546143

  8. The Association Between MGMT Promoter Methylation and Patients with Gastric Cancer: A Meta-Analysis.

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    Yuan, Xiaolong; Xu, Jifei; Fang, Weiyang; Zhao, Zhenfeng; Wang, Fan; Tong, Zhuting

    2017-04-01

    Several previous studies have suggested that MGMT promoter methylation is significantly associated with gastric cancer, but the results were not consistent. Hence, we conducted a systematic meta-analysis to explore the potential correlation of MGMT promoter methylation with gastric cancer and its clinicopathologic characteristics. Searches of PubMed, EMBASE, Web of Science, Cochrane Library, and Chinese National Knowledge Infrastructure (CNKI) literature databases were conducted to identify relevant studies published in English or Chinese before July 1, 2016. The meta-analysis was performed using Stata 12.0 software. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to assess the association between MGMT promoter methylation and gastric cancer. We also conducted a subgroup analysis and metaregression to explore sources of heterogeneity. We identified 12 articles that met the inclusion criteria. The 12 articles described 14 studies that included 1571 tumor tissues and 1243 controls. The meta-analysis results demonstrated that the frequency of MGMT promoter methylation was higher in gastric cancer tissues compared with adjacent tissues and normal tissues (OR = 4.06, 95% CI: 2.55-6.46, p MGMT promoter methylation and clinicopathological characteristics indicated that MGMT promoter hypermethylation was significantly associated with tumor-node-metastasis stage, lymph node metastasis, and distant metastasis (OR = 2.11, 95% CI: 1.18-3.75, p = 0.011; OR = 1.99, 95% CI: 1.47-2.68, p MGMT promoter methylation could play an important role in gastric carcinogenesis and may serve as an important biomarker for gastric cancer progression.

  9. Large scale association analysis identifies three susceptibility loci for coronary artery disease.

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    Stephanie Saade

    Full Text Available Genome wide association studies (GWAS and their replications that have associated DNA variants with myocardial infarction (MI and/or coronary artery disease (CAD are predominantly based on populations of European or Eastern Asian descent. Replication of the most significantly associated polymorphisms in multiple populations with distinctive genetic backgrounds and lifestyles is crucial to the understanding of the pathophysiology of a multifactorial disease like CAD. We have used our Lebanese cohort to perform a replication study of nine previously identified CAD/MI susceptibility loci (LTA, CDKN2A-CDKN2B, CELSR2-PSRC1-SORT1, CXCL12, MTHFD1L, WDR12, PCSK9, SH2B3, and SLC22A3, and 88 genes in related phenotypes. The study was conducted on 2,002 patients with detailed demographic, clinical characteristics, and cardiac catheterization results. One marker, rs6922269, in MTHFD1L was significantly protective against MI (OR=0.68, p=0.0035, while the variant rs4977574 in CDKN2A-CDKN2B was significantly associated with MI (OR=1.33, p=0.0086. Associations were detected after adjustment for family history of CAD, gender, hypertension, hyperlipidemia, diabetes, and smoking. The parallel study of 88 previously published genes in related phenotypes encompassed 20,225 markers, three quarters of which with imputed genotypes The study was based on our genome-wide genotype data set, with imputation across the whole genome to HapMap II release 22 using HapMap CEU population as a reference. Analysis was conducted on both the genotyped and imputed variants in the 88 regions covering selected genes. This approach replicated HNRNPA3P1-CXCL12 association with CAD and identified new significant associations of CDKAL1, ST6GAL1, and PTPRD with CAD. Our study provides evidence for the importance of the multifactorial aspect of CAD/MI and describes genes predisposing to their etiology.

  10. Temporal associations between weather and headache: analysis by empirical mode decomposition.

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    Albert C Yang

    Full Text Available BACKGROUND: Patients frequently report that weather changes trigger headache or worsen existing headache symptoms. Recently, the method of empirical mode decomposition (EMD has been used to delineate temporal relationships in certain diseases, and we applied this technique to identify intrinsic weather components associated with headache incidence data derived from a large-scale epidemiological survey of headache in the Greater Taipei area. METHODOLOGY/PRINCIPAL FINDINGS: The study sample consisted of 52 randomly selected headache patients. The weather time-series parameters were detrended by the EMD method into a set of embedded oscillatory components, i.e. intrinsic mode functions (IMFs. Multiple linear regression models with forward stepwise methods were used to analyze the temporal associations between weather and headaches. We found no associations between the raw time series of weather variables and headache incidence. For decomposed intrinsic weather IMFs, temperature, sunshine duration, humidity, pressure, and maximal wind speed were associated with headache incidence during the cold period, whereas only maximal wind speed was associated during the warm period. In analyses examining all significant weather variables, IMFs derived from temperature and sunshine duration data accounted for up to 33.3% of the variance in headache incidence during the cold period. The association of headache incidence and weather IMFs in the cold period coincided with the cold fronts. CONCLUSIONS/SIGNIFICANCE: Using EMD analysis, we found a significant association between headache and intrinsic weather components, which was not detected by direct comparisons of raw weather data. Contributing weather parameters may vary in different geographic regions and different seasons.

  11. Neonatal injury at cephalic vaginal delivery: a retrospective analysis of extent of association with shoulder dystocia.

    Science.gov (United States)

    Iskender, Cantekin; Kaymak, Oktay; Erkenekli, Kudret; Ustunyurt, Emin; Uygur, Dilek; Yakut, Halil Ibrahim; Danisman, Nuri

    2014-01-01

    To describe the risk factors and labor characteristics of Clavicular fracture (CF) and brachial plexus injury (BPI); and compare antenatal and labor characteristics and prognosis of obstetrical BPI associated with shoulder dystocia with obstetrical BPI not associated with shoulder dystocia. This retrospective study consisted of women who gave birth to an infant with a fractured clavicle or BPI between January 2009 and June 2013. Antenatal and neonatal data were compared between groups. The control group (1300) was composed of the four singleton vaginal deliveries that immediately followed each birth injury. A multivariable logistic regression model, with backward elimination, was constructed in order to find independent risk factors associated with BPI and CF. A subgroup analysis involved comparison of features of BPI cases with or without associated shoulder dystocia. During the study period, the total number of vaginal deliveries was 44092. The rates of CF, BPI and shoulder dystocia during the study period were 0,6%, 0,16% and 0,29%, respectively. In the logistic regression model, shoulder dystocia, GDM, multiparity, gestational age >42 weeks, protracted labor, short second stage of labor and fetal birth weight greater than 4250 grams increased the risk of CF independently. Shoulder dystocia and protracted labor were independently associated with BPI when controlled for other factors. Among neonates with BPI whose injury was not associated with shoulder dystocia, five (12.2%) sustained permanent injury, whereas one neonate (4.5%) with BPI following shoulder dystocia sustained permanent injury (p = 0.34). BPI not associated with shoulder dystocia might have a higher rate of concomitant CF and permanent sequelae.

  12. Neonatal injury at cephalic vaginal delivery: a retrospective analysis of extent of association with shoulder dystocia.

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    Cantekin Iskender

    Full Text Available To describe the risk factors and labor characteristics of Clavicular fracture (CF and brachial plexus injury (BPI; and compare antenatal and labor characteristics and prognosis of obstetrical BPI associated with shoulder dystocia with obstetrical BPI not associated with shoulder dystocia.This retrospective study consisted of women who gave birth to an infant with a fractured clavicle or BPI between January 2009 and June 2013. Antenatal and neonatal data were compared between groups. The control group (1300 was composed of the four singleton vaginal deliveries that immediately followed each birth injury. A multivariable logistic regression model, with backward elimination, was constructed in order to find independent risk factors associated with BPI and CF. A subgroup analysis involved comparison of features of BPI cases with or without associated shoulder dystocia.During the study period, the total number of vaginal deliveries was 44092. The rates of CF, BPI and shoulder dystocia during the study period were 0,6%, 0,16% and 0,29%, respectively. In the logistic regression model, shoulder dystocia, GDM, multiparity, gestational age >42 weeks, protracted labor, short second stage of labor and fetal birth weight greater than 4250 grams increased the risk of CF independently. Shoulder dystocia and protracted labor were independently associated with BPI when controlled for other factors. Among neonates with BPI whose injury was not associated with shoulder dystocia, five (12.2% sustained permanent injury, whereas one neonate (4.5% with BPI following shoulder dystocia sustained permanent injury (p = 0.34.BPI not associated with shoulder dystocia might have a higher rate of concomitant CF and permanent sequelae.

  13. Association analysis of salt tolerance in cowpea (Vigna unguiculata (L.) Walp) at germination and seedling stages.

    Science.gov (United States)

    Ravelombola, Waltram; Shi, Ainong; Weng, Yuejin; Mou, Beiquan; Motes, Dennis; Clark, John; Chen, Pengyin; Srivastava, Vibha; Qin, Jun; Dong, Lingdi; Yang, Wei; Bhattarai, Gehendra; Sugihara, Yuichi

    2018-01-01

    This is the first report on association analysis of salt tolerance and identification of SNP markers associated with salt tolerance in cowpea. Cowpea (Vigna unguiculata (L.) Walp) is one of the most important cultivated legumes in Africa. The worldwide annual production in cowpea dry seed is 5.4 million metric tons. However, cowpea is unfavorably affected by salinity stress at germination and seedling stages, which is exacerbated by the effects of climate change. The lack of knowledge on the genetic underlying salt tolerance in cowpea limits the establishment of a breeding strategy for developing salt-tolerant cowpea cultivars. The objectives of this study were to conduct association mapping for salt tolerance at germination and seedling stages and to identify SNP markers associated with salt tolerance in cowpea. We analyzed the salt tolerance index of 116 and 155 cowpea accessions at germination and seedling stages, respectively. A total of 1049 SNPs postulated from genotyping-by-sequencing were used for association analysis. Population structure was inferred using Structure 2.3.4; K optimal was determined using Structure Harvester. TASSEL 5, GAPIT, and FarmCPU involving three models such as single marker regression, general linear model, and mixed linear model were used for the association study. Substantial variation in salt tolerance index for germination rate, plant height reduction, fresh and dry shoot biomass reduction, foliar leaf injury, and inhibition of the first trifoliate leaf was observed. The cowpea accessions were structured into two subpopulations. Three SNPs, Scaffold87490_622, Scaffold87490_630, and C35017374_128 were highly associated with salt tolerance at germination stage. Seven SNPs, Scaffold93827_270, Scaffold68489_600, Scaffold87490_633, Scaffold87490_640, Scaffold82042_3387, C35069468_1916, and Scaffold93942_1089 were found to be associated with salt tolerance at seedling stage. The SNP markers were consistent across the three models and

  14. Association analysis of nine candidate gene polymorphisms in Indian patients with type 2 diabetic retinopathy

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    Govindarajan Gowthaman

    2010-11-01

    Full Text Available Abstract Background Diabetic retinopathy (DR is classically defined as a microvasculopathy that primarily affects the small blood vessels of the inner retina as a complication of diabetes mellitus (DM.It is a multifactorial disease with a strong genetic component. The aim of this study is to investigate the association of a set of nine candidate genes with the development of diabetic retinopathy in a South Indian cohort who have type 2 diabetes mellitus (T2DM. Methods Seven candidate genes (RAGE, PEDF, AKR1B1, EPO, HTRA1, ICAM and HFE were chosen based on reported association with DR in the literature. Two more, CFH and ARMS2, were chosen based on their roles in biological pathways previously implicated in DR. Fourteen single nucleotide polymorphisms (SNPs and one dinucleotide repeat polymorphism, previously reported to show association with DR or other related diseases, were genotyped in 345 DR and 356 diabetic patients without retinopathy (DNR. The genes which showed positive association in this screening set were tested further in additional sets of 100 DR and 90 DNR additional patients from the Aravind Eye Hospital. Those which showed association in the secondary screen were subjected to a combined analysis with the 100 DR and 100 DNR subjects previously recruited and genotyped through the Sankara Nethralaya Hospital, India. Genotypes were evaluated using a combination of direct sequencing, TaqMan SNP genotyping, RFLP analysis, and SNaPshot PCR assays. Chi-square and Fisher exact tests were used to analyze the genotype and allele frequencies. Results Among the nine loci (15 polymorphisms screened, SNP rs2070600 (G82S in the RAGE gene, showed significant association with DR (allelic P = 0.016, dominant model P = 0.012, compared to DNR. SNP rs2070600 further showed significant association with DR in the confirmation cohort (P = 0.035, dominant model P = 0.032. Combining the two cohorts gave an allelic P HTRA1, rs11200638 (G>A, showed marginal

  15. Association between promoter polymorphisms of OPN gene and cancer risk: a meta-analysis

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    Liu JW

    2015-12-01

    Full Text Available Jingwei Liu,1–2 Caiyun He,1–2 Quan Yuan,1–2 Zhenning Wang,1–2 Chengzhong Xing,1–2 Yuan Yuan1–2 1Tumor Etiology and Screening Department of Cancer Institute and General Surgery, The First Affiliated Hospital of China Medical University, 2Key Laboratory of Cancer Etiology and Prevention, China Medical University, Liaoning Provincial Education Department, Shenyang, People’s Republic of China Background: Results of the association between polymorphisms of osteopontin (OPN gene promoter region and risk of cancer were inconclusive. The aim of this meta-analysis was to elucidate whether OPN promoter polymorphisms were associated with cancer risk.Methods: Electronic databases including PubMed, Web of Science, and Chinese National Knowledge Infrastructure were systematically searched. Odd ratios (ORs and their 95% confidential interval (CI were used to assess the strength of association between OPN promoter polymorphisms and cancer risks.Results: Nine studies were finally included in this meta-analysis. For OPN rs17524488 polymorphism, carriers of GG or -/G genotype were significantly associated with increased cancer risk compared with wild-type -/- carriers, respectively (GG vs -/-: OR =1.40, 95% CI =1.03–1.91, P=0.033; -/G vs -/-: OR =1.22, 95% CI =1.07–1.40, P=0.002. Additionally, G allele was significantly associated with increased cancer risk compared with (- allele (OR =1.21, 95% CI =1.04–1.40, P=0.016. However, no significant association was observed of OPN rs11730582 polymorphism and cancer risk (CC vs TT: OR =0.98, 95% CI =0.49–1.97, P=0.964; CT vs TT: OR =0.88, 95% CI =0.54–1.43, P=0.610.Conclusion: Carriers of GG or -/G genotype of OPN promoter rs17524488 (-156-/G polymorphism might be associated with increased risk of cancer compared with wild-type -/- carriers, respectively. However, no significant association was observed between OPN promoter rs11730582 (-443C/T polymorphism and risk of cancer. Keywords: OPN

  16. Meta-analysis of the association of MTHFR polymorphisms with multiple myeloma risk

    Science.gov (United States)

    Ma, Li-Min; Ruan, Lin-Hai; Yang, Hai-Ping

    2015-01-01

    The association of methylenetetrahydrofolate reductase (MTHFR) polymorphisms with multiple myeloma (MM) risk has been explored, but the results remain controversial. Thus, a meta-analysis was performed to provide a comprehensively estimate. The case-control studies about MTHFR C677T and A1298C polymorphisms with MM risk were collected by searching PubMed, Elsevier, China National Knowledge Infrastructure and Wanfang Databases. Odds ratios (ORs) with 95% confidence intervals (CIs) were applied to assess the strength of association. Overall, no significant association was found between MTHFR A1298C polymorphism and MM risk under all four genetic models (AC vs. AA, OR = 0.99, 95%CI = 0.82-1.20; CC vs. AA, OR = 1.14, 95%CI = 0.77-1.68; recessive model, OR = 1.10, 95%CI = 0.76-1.59; dominant model, OR = 1.01, 95%CI = 0.84-1.22). The risk was also not significantly altered for C677T polymorphism and MM in overall comparisons (CT vs. CC, OR = 1.04, 95%CI = 0.93-1.17; TT vs. CC, OR = 1.16, 95%CI = 0.98-1.37; recessive model, OR = 1.13, 95%CI = 0.98-1.32; dominant model, OR = 1.07, 95%CI = 0.96-1.20). In subgroup analyses by ethnicity, no significant association was observed in both Caucasians and Asians. This meta-analysis suggested that MTHFR polymorphisms were not associated with MM risk. PMID:26022785

  17. [A Meta analysis on the associations between air pollution and respiratory mortality in China].

    Science.gov (United States)

    Liu, Changjing; Huang, Fei; Yang, Zhizhou; Sun, Zhaorui; Huang, Changbao; Liu, Hongmei; Shao, Danbing; Zhang, Wei; Ren, Yi; Tang, Wenjie; Han, Xiaoqin; Nie, Shinan

    2015-08-01

    To analyze the associations between air pollution and adverse health outcomes on respiratory diseases and to estimate the short-term effects of air pollutions [Particulate matter with particle size below 10 microns (PM(10)), PM(10) particulate matter with particle size below 2.5 microns (PM(2.5)), nitrogen dioxide (NO₂), sulphur dioxide (SO₂) and ozone (O₃)] on respiratory mortality in China. Data related to the epidemiological studies on the associations between air pollution and adverse health outcomes of respiratory diseases that published from 1989 through 2014 in China, were collected by systematically searching databases of PubMed, SpringerLink, Embase, Medline, CNKI, CBM and VIP in different provinces of China. Short-term effects between (PM(10), PM(2.5), NO₂, SO₂, O₃) and respiratory mortality were analyzed by Meta-analysis method, and estimations were pooled by random or fixed effect models, using the Stata 12.0 software. A total of 157 papers related to the associations between air pollution and adverse health outcomes of respiratory diseases in China were published, which covered 79.4% of all the provinces in China. Results from the Meta-analysis showed that a 10 µg/m³ increase in PM10, PM(2.5), NO₂, SO₂, and O₃was associated with mortality rates as 0.50% (95% CI: 0-0.90%), 0.50% (95% CI: 0.30%-0.70%), 1.39% (95% CI: 0.90%-1.78%), 1.00% (95% CI: 0.40%-1.59%) and 0.10% (95% CI: -1.21%-1.39%) in respiratory tracts, respectively. No publication bias was found among these studies. There seemed positive associations existed between PM(10)/PM(2.5)/NO₂/SO₂and respiratory mortality in China that the relationship called for further attention on air pollution and adverse health outcomes of the respiratory diseases.

  18. A Panel Analysis of the Strategic Association Between Information and Communication Technology and Public Health Delivery

    Science.gov (United States)

    Wu, Sarah Jinhui

    2012-01-01

    Background In this exploratory research, we use panel data analysis to examine the correlation between Information and Communication Technology (ICTs) and public health delivery at the country level. Objective The goal of this exploratory research is to examine the strategic association over time between ICTs and country-level public health. Methods Using data from the World Development Indicators, we construct a panel data set of countries of five different income levels and look closely at the period from 2000 to 2008. The panel data analysis allows us to explore this dynamic relationship under the control for unobserved country-specific effects by using a fixed-effects estimation method. In particular,, we examine the association of five ICT factors with five public health indicators: adolescent fertility rate, child immunization coverage, tuberculosis case detected, life expectancy, and adult mortality rate. Results First, overall ICTs’ factors substantially improve a country’s public health delivery on the top of wealth effect. Second, among all the ICTs’ factors, accessibility is the only one that is associated with improvements in all aspects of public health delivery, while the contributions from the usage, quality, and applications are negligible. ICTs’ accessibility factor is associated with a considerable extension to life expectancy and reduced adult mortality rate. Third, all entity-specific factors are significant in each model, indicating that countries’ economic development level does influence their public health delivery. Conclusions Our results indicate that ICT accessibility has a strong association with effective delivery of public health. There are others, but the key strategic applications are eHealth and mHealth. The findings of this study will help government officials and public health policy makers to formulate strategic decisions regarding the best ICT investments and deployment. For example, the study shows that providing

  19. Association of traumatic brain injury with subsequent neurological and psychiatric disease: a meta-analysis.

    Science.gov (United States)

    Perry, David C; Sturm, Virginia E; Peterson, Matthew J; Pieper, Carl F; Bullock, Thomas; Boeve, Bradley F; Miller, Bruce L; Guskiewicz, Kevin M; Berger, Mitchel S; Kramer, Joel H; Welsh-Bohmer, Kathleen A

    2016-02-01

    Mild traumatic brain injury (TBI) has been proposed as a risk factor for the development of Alzheimer's disease, Parkinson's disease, depression, and other illnesses. This study's objective was to determine the association of prior mild TBI with the subsequent diagnosis (that is, at least 1 year postinjury) of neurological or psychiatric disease. All studies from January 1995 to February 2012 reporting TBI as a risk factor for diagnoses of interest were identified by searching PubMed, study references, and review articles. Reviewers abstracted the data and assessed study designs and characteristics. Fifty-seven studies met the inclusion criteria. A random effects meta-analysis revealed a significant association of prior TBI with subsequent neurological and psychiatric diagnoses. The pooled odds ratio (OR) for the development of any illness subsequent to prior TBI was 1.67 (95% CI 1.44-1.93, p psychiatric (OR 2.00, 95% CI 1.50-2.66, p disease, Parkinson's disease, mild cognitive impairment, depression, mixed affective disorders, and bipolar disorder in individuals with previous TBI as compared to those without TBI. This association was present when examining only studies of mild TBI and when considering the influence of study design and characteristics. Analysis of a subset of studies demonstrated no evidence that multiple TBIs were associated with higher odds of disease than a single TBI. History of TBI, including mild TBI, is associated with the development of neurological and psychiatric illness. This finding indicates that either TBI is a risk factor for heterogeneous pathological processes or that TBI may contribute to a common pathological mechanism.

  20. A Protein Domain and Family Based Approach to Rare Variant Association Analysis

    Science.gov (United States)

    Richardson, Tom G.; Shihab, Hashem A.; Rivas, Manuel A.; McCarthy, Mark I.; Campbell, Colin; Timpson, Nicholas J.; Gaunt, Tom R.

    2016-01-01

    Background It has become common practice to analyse large scale sequencing data with statistical approaches based around the aggregation of rare variants within the same gene. We applied a novel approach to rare variant analysis by collapsing variants together using protein domain and family coordinates, regarded to be a more discrete definition of a biologically functional unit. Methods Using Pfam definitions, we collapsed rare variants (Minor Allele Frequency ≤ 1%) together in three different ways 1) variants within single genomic regions which map to individual protein domains 2) variants within two individual protein domain regions which are predicted to be responsible for a protein-protein interaction 3) all variants within combined regions from multiple genes responsible for coding the same protein domain (i.e. protein families). A conventional collapsing analysis using gene coordinates was also undertaken for comparison. We used UK10K sequence data and investigated associations between regions of variants and lipid traits using the sequence kernel association test (SKAT). Results We observed no strong evidence of association between regions of variants based on Pfam domain definitions and lipid traits. Quantile-Quantile plots illustrated that the overall distributions of p-values from the protein domain analyses were comparable to that of a conventional gene-based approach. Deviations from this distribution suggested that collapsing by either protein domain or gene definitions may be favourable depending on the trait analysed. Conclusion We have collapsed rare variants together using protein domain and family coordinates to present an alternative approach over collapsing across conventionally used gene-based regions. Although no strong evidence of association was detected in these analyses, future studies may still find value in adopting these approaches to detect previously unidentified association signals. PMID:27128313

  1. A Protein Domain and Family Based Approach to Rare Variant Association Analysis.

    Directory of Open Access Journals (Sweden)

    Tom G Richardson

    Full Text Available It has become common practice to analyse large scale sequencing data with statistical approaches based around the aggregation of rare variants within the same gene. We applied a novel approach to rare variant analysis by collapsing variants together using protein domain and family coordinates, regarded to be a more discrete definition of a biologically functional unit.Using Pfam definitions, we collapsed rare variants (Minor Allele Frequency ≤ 1% together in three different ways 1 variants within single genomic regions which map to individual protein domains 2 variants within two individual protein domain regions which are predicted to be responsible for a protein-protein interaction 3 all variants within combined regions from multiple genes responsible for coding the same protein domain (i.e. protein families. A conventional collapsing analysis using gene coordinates was also undertaken for comparison. We used UK10K sequence data and investigated associations between regions of variants and lipid traits using the sequence kernel association test (SKAT.We observed no strong evidence of association between regions of variants based on Pfam domain definitions and lipid traits. Quantile-Quantile plots illustrated that the overall distributions of p-values from the protein domain analyses were comparable to that of a conventional gene-based approach. Deviations from this distribution suggested that collapsing by either protein domain or gene definitions may be favourable depending on the trait analysed.We have collapsed rare variants together using protein domain and family coordinates to present an alternative approach over collapsing across conventionally used gene-based regions. Although no strong evidence of association was detected in these analyses, future studies may still find value in adopting these approaches to detect previously unidentified association signals.

  2. Association between Factor V Gene Polymorphism and Risk of Ischemic Stroke: An Updated Meta-Analysis.

    Science.gov (United States)

    Alhazzani, Adel Ali; Kumar, Amit; Selim, Magdy

    2018-02-22

    Ischemic stroke is a complex, multifactorial, and polygenic disease. Reports on relationship between Factor V G1691A single nucleotide gene polymorphism and ischemic stroke have revealed inconsistent results. We conducted an updated meta-analysis to determine the role of Factor V single nucleotide gene polymorphism in ischemic stroke. We searched the literature using academic electronic databases that is, PubMed, Trip Data Base, EBSCO, and Google Scholar, last search up to September 2017. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated from fixed or random effects models whichever applicable using software STATA version 13 (StataCorp LP, College Station, TX). Forty case-control studies met the inclusion criteria, which included 6860 cases and 18,025 controls. Altogether, 19 studies in young adults (age  40). Four studies did not report the mean age at recruitment. Significant association between Factor V G1691A gene polymorphism and risk of ischemic stroke were observed under dominant model (OR 1.40; 95% CI: 1.22 to 1.62, P value analysis suggested substantial association of Factor V gene polymorphism and risk of ischemic stroke in cases with onset at young age (OR 1.84; 95% CI: 1.47 to 2.30), but was not statistical significant in cases at old age (>40 years). Factor V G1691A single nucleotide gene polymorphism was associated with risk of ischemic stroke mainly in young adults. Further research with adequately powered prospective studies in homogenous subjects are required to determine the nature of association in young stroke. Copyright © 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  3. A panel analysis of the strategic association between information and communication technology and public health delivery.

    Science.gov (United States)

    Wu, Sarah Jinhui; Raghupathi, Wullianallur

    2012-10-22

    In this exploratory research, we use panel data analysis to examine the correlation between Information and Communication Technology (ICTs) and public health delivery at the country level. The goal of this exploratory research is to examine the strategic association over time between ICTs and country-level public health. Using data from the World Development Indicators, we construct a panel data set of countries of five different income levels and look closely at the period from 2000 to 2008. The panel data analysis allows us to explore this dynamic relationship under the control for unobserved country-specific effects by using a fixed-effects estimation method. In particular,, we examine the association of five ICT factors with five public health indicators: adolescent fertility rate, child immunization coverage, tuberculosis case detected, life expectancy, and adult mortality rate. First, overall ICTs' factors substantially improve a country's public health delivery on the top of wealth effect. Second, among all the ICTs' factors, accessibility is the only one that is associated with improvements in all aspects of public health delivery, while the contributions from the usage, quality, and applications are negligible. ICTs' accessibility factor is associated with a considerable extension to life expectancy and reduced adult mortality rate. Third, all entity-specific factors are significant in each model, indicating that countries' economic development level does influence their public health delivery. Our results indicate that ICT accessibility has a strong association with effective delivery of public health. There are others, but the key strategic applications are eHealth and mHealth. The findings of this study will help government officials and public health policy makers to formulate strategic decisions regarding the best ICT investments and deployment. For example, the study shows that providing accessibility should be a critical focus.

  4. Association between TLR2 + 2477G/A polymorphism and bacterial meningitis: a meta-analysis.

    Science.gov (United States)

    Jin, Xiaochun; Yin, Shuzhou; Zhang, Youtao; Chen, Xu

    2018-02-19

    Toll-like receptor 2 (TLR2) is a key member of TLRs, which is crucial in the initial inflammatory response against bacteria. TLR2, is also the initial barrier against bacterial infection and plays an important role in recognising a variety of bacterial lipoproteins. Several studies have been performed to investigate the TLR2 + 2477G/A polymorphism and bacterial meningitis susceptibility. Unfortunately, the results of previous studies were controversial. Therefore, we performed a meta-analysis to derive a more precise estimation of the association. The association between the TLR2 + 2477G/A polymorphism and bacterial meningitis susceptibility was assessed by odds ratios together with their 95% confidence intervals (CI). Six studies were enrolled in the present meta-analysis. Overall, no significant association between TLR2 + 2477G/A polymorphism and bacterial meningitis risk were found under allele contrast (A vs. G: OR = 1.15, 95% CI = 0.93-1.43, P = 0.202), recessive genetic model (AA vs. OR = 1.12, 95% CI = 0.90-1.41, P = 0.313). The significant association was found between TLR2 + 2477G/A polymorphism and pneumococcal meningitis risk under allele contrast (A vs. G: OR = 1.54, 95% CI = 1.01-2.36, P = 0.046), recessive genetic model (AA vs. OR = 1.63, 95% CI = 1.03-2.57, P = 0.035). We conclude that TLR2 + 2477G/A polymorphism is not associated with meningococcal meningitis risk but contributes an increased risk of pneumococcal meningitis.

  5. Evaluation of Portland cement from X-ray diffraction associated with cluster analysis

    International Nuclear Information System (INIS)

    Gobbo, Luciano de Andrade; Montanheiro, Tarcisio Jose; Montanheiro, Filipe; Sant'Agostino, Lilia Mascarenhas

    2013-01-01

    The Brazilian cement industry produced 64 million tons of cement in 2012, with noteworthy contribution of CP-II (slag), CP-III (blast furnace) and CP-IV (pozzolanic) cements. The industrial pole comprises about 80 factories that utilize raw materials of different origins and chemical compositions that require enhanced analytical technologies to optimize production in order to gain space in the growing consumer market in Brazil. This paper assesses the sensitivity of mineralogical analysis by X-ray diffraction associated with cluster analysis to distinguish different kinds of cements with different additions. This technique can be applied, for example, in the prospection of different types of limestone (calcitic, dolomitic and siliceous) as well as in the qualification of different clinkers. The cluster analysis does not require any specific knowledge of the mineralogical composition of the diffractograms to be clustered; rather, it is based on their similarity. The materials tested for addition have different origins: fly ashes from different power stations from South Brazil and slag from different steel plants in the Southeast. Cement with different additions of limestone and white Portland cement were also used. The Rietveld method of qualitative and quantitative analysis was used for measuring the results generated by the cluster analysis technique. (author)

  6. Shortened telomere length is associated with increased risk of cancer: a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Hongxia Ma

    Full Text Available Telomeres play a key role in the maintenance of chromosome integrity and stability, and telomere shortening is involved in initiation and progression of malignancies. A series of epidemiological studies have examined the association between shortened telomeres and risk of cancers, but the findings remain conflicting.A dataset composed of 11,255 cases and 13,101 controls from 21 publications was included in a meta-analysis to evaluate the association between overall cancer risk or cancer-specific risk and the relative telomere length. Heterogeneity among studies and their publication bias were further assessed by the χ(2-based Q statistic test and Egger's test, respectively.The results showed that shorter telomeres were significantly associated with cancer risk (OR = 1.35, 95% CI = 1.14-1.60, compared with longer telomeres. In the stratified analysis by tumor type, the association remained significant in subgroups of bladder cancer (OR = 1.84, 95% CI = 1.38-2.44, lung cancer (OR = 2.39, 95% CI = 1.18-4.88, smoking-related cancers (OR = 2.25, 95% CI = 1.83-2.78, cancers in the digestive system (OR = 1.69, 95% CI = 1.53-1.87 and the urogenital system (OR = 1.73, 95% CI = 1.12-2.67. Furthermore, the results also indicated that the association between the relative telomere length and overall cancer risk was statistically significant in studies of Caucasian subjects, Asian subjects, retrospective designs, hospital-based controls and smaller sample sizes. Funnel plot and Egger's test suggested that there was no publication bias in the current meta-analysis (P = 0.532.The results of this meta-analysis suggest that the presence of shortened telomeres may be a marker for susceptibility to human cancer, but single larger, well-design prospective studies are warranted to confirm these findings.

  7. Increased risk of venous thromboembolism associated with polymyositis and dermatomyositis: a meta-analysis

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    Li Y

    2018-01-01

    Full Text Available Yanqing Li,1 Peihong Wang,2 Lei Li,3 Fei Wang,4 Yuxiu Liu5 1Department of Pharmacy Intravenous Admixture Services, Affiliated Hospital of Weifang Medical University, Weifang, 2Department of Interventional Oncology, Weifang Tumor Hospital, Weifang, 3Department of Gastroenterology, Affiliated Hospital of Weifang Medical University, Weifang, 4Department of Neurosurgery, Affiliated Hospital of Weifang Medical University, Weifang, 5School of Nursing, Weifang Medical University, Weifang, People’s Republic of China Objective: Polymyositis and dermatomyositis (PM/DM have been implicated in the development of venous thromboembolism (VTE. Previous studies investigating the association between PM/DM and VTE risk had yielded inconsistent findings. The aim of this study was to precisely estimate this association by meta-analysis of all available publications.Methods: Two investigators independently performed a comprehensive literature search in databases of PubMed, Embase, and the Cochrane Library for eligible studies. The strength for the association was weighed by pooled odds ratios (ORs with 95% confidence intervals (95% CIs. Stratified analysis and sensitivity analysis were performed for further analysis.Results: Six studies including 9,045 patients with PM/DM were analyzed. The pooled OR suggested that inflammatory myositis was associated with increased risk of VTE (OR =4.31, 95% CI: 2.55–7.29, P<0.001. Besides, significantly elevated risk of VTE was related with PM and DM, respectively (for PM: OR =6.87, 95% CI: 4.12–11.46, P<0.001; for DM: OR =11.59, 95% CI: 6.54–20.55, P<0.001. In addition, inflammatory myositis could increase the risk of DVT (OR =4.85, 95% CI: 1.38–17.12, P<0.05 and PE (OR =4.74, 95% CI: 2.18–10.30, P<0.05. Sensitivity analysis did not materially alter the pooled results.Conclusion: Our study shows strong evidence that patients with inflammatory myositis have an increased risk of VTE. Keywords: polymyositis

  8. Association between MGMT promoter methylation and non-small cell lung cancer: a meta-analysis.

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    Changmei Gu

    Full Text Available BACKGROUND: O(6-methylguanine-DNA methyltransferase (MGMT is one of most important DNA repair enzyme against common carcinogens such as alkylate and tobacco. Aberrant promoter methylation of the gene is frequently observed in non-small cell lung cancer (NSCLC. However, the importance of epigenetic inactivation of the gene in NSCLC published in the literature showed inconsistence. We quantified the association between MGMT promoter methylation and NSCLC using a meta-analysis method. METHODS: We systematically reviewed studies of MGMT promoter methylation and NSCLC in PubMed, EMBASE, Ovid, ISI Web of Science, Elsevier and CNKI databases and quantified the association between MGMT promoter methylation and NSCLC using meta-analysis method. Odds ratio (OR and corresponding 95% confidence interval (CI were calculated to evaluate the strength of association. Potential sources of heterogeneity were assessed by subgroup analysis and meta-regression. RESULTS: A total of 18 studies from 2001 to 2011, with 1, 160 tumor tissues and 970 controls, were involved in the meta-analysis. The frequencies of MGMT promote methylation ranged from 1.5% to 70.0% (median, 26.1% in NSCLC tissue and 0.0% to 55.0% (median, 2.4% in non-cancerous control, respectively. The summary of OR was 4.43 (95% CI: 2.85, 6.89 in the random-effects model. With stratification by potential source of heterogeneity, the OR was 20.45 (95% CI: 5.83, 71.73 in heterogeneous control subgroup, while it was 4.16 (95% CI: 3.02, 5.72 in the autologous control subgroup. The OR was 5.31 (95% CI: 3.00, 9.41 in MSP subgroup and 3.06 (95% CI: 1.75, 5.33 in Q-MSP subgroup. CONCLUSION: This meta-analysis identified a strong association between methylation of MGMT gene and NSCLC. Prospective studies should be required to confirm the results in the future.

  9. Modifiable partner factors associated with perinatal depression and anxiety: a systematic review and meta-analysis.

    Science.gov (United States)

    Pilkington, Pamela D; Milne, Lisa C; Cairns, Kathryn E; Lewis, James; Whelan, Thomas A

    2015-06-01

    Perinatal distress is a significant public health problem that adversely impacts the individual and their family. The primary objective of this systematic review and meta-analysis was to identify factors that partners can modify to protect each other from developing perinatal depression and anxiety. In accordance with the PRISMA statement, we reviewed the risk and protective factors associated with perinatal depression and anxiety symptoms that partners can potentially modify without professional assistance (PROSPERO reference CRD42014007524). Participants were new or expectant parents aged 16 years or older. The partner factors were sub-grouped into themes (e.g., instrumental support) based on a content analysis of the scale items and measure descriptions. A series of meta-analyses were conducted to estimate the pooled effect sizes of associations. We included 120 publications, reporting 245 associations with depression and 44 with anxiety. Partner factors with sound evidence that they protect against both perinatal depression and anxiety are: emotional closeness and global support. Partner factors with a sound evidence base for depression only are communication, conflict, emotional and instrumental support, and relationship satisfaction. This review is limited by the lack of generalizability to single parents and the inability to systematically review moderators and mediators, or control for baseline symptoms. The findings suggest that future prevention programs targeting perinatal depression and anxiety should aim to enhance relationship satisfaction, communication, and emotional closeness, facilitate instrumental and emotional support, and minimize conflict between partners. Copyright © 2015 Elsevier B.V. All rights reserved.

  10. Associations of CTLA4 Gene Polymorphisms with Graves’ Ophthalmopathy: A Meta-Analysis

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    Pengfei Du

    2014-01-01

    Full Text Available Many studies have established that T-lymphocyte antigen-4 (CTLA4 is a susceptible gene for Graves’ disease (GD. Also many studies showed the association between the CTLA4 exon-1 49A/G polymorphism and the risk of developing Graves’ ophthalmopathy (GO in GD patients. But those results were inconsistent. In recent years many new studies were published which helped to shed light on the relationship of CTLA4 SNP49 with GO. So we performed the meta-analysis to explore the association between the SNP49 and GO susceptibility in GD patients. Studies up to February 29, 2012, were searched by using PubMed. The odds ratio was used to evaluate the strength of the association. Altogether 12 case-control studies involving 2,505 participants were included in the meta-analysis. Results showed that the G allele was related to the increased risk of GO compared with the A allele under allelic genetic model (OR = 1.14, 95% CI: 1.14–1.72, P=0.001 in European subgroup. No publication bias was detected. Our results showed that the SNP49 polymorphism of CTLA4 gene was related to increased risk of GO.

  11. Genetic diversity, population structure and association analysis in cut chrysanthemum (Chrysanthemum morifolium Ramat.).

    Science.gov (United States)

    Li, Pirui; Zhang, Fei; Chen, Sumei; Jiang, Jiafu; Wang, Haibin; Su, Jiangshuo; Fang, Weimin; Guan, Zhiyong; Chen, Fadi

    2016-06-01

    Characterizing the genetic diversity present in a working set of plant germplasm can contribute to its effective management and genetic improvement. The cut flower chrysanthemum (Chrysanthemum morifolium Ramat.) is an economically important ornamental species. With the repeated germplasm exchange and intensive breeding activities, it remains a major task in genetic research. The purpose of the present study was to characterize the genetic diversity and the population structure of a worldwide collection of 159 varieties, and to apply an association mapping approach to identify DNA-based markers linked to five plant architecture traits and six inflorescence traits. The genotyping demonstrated that there was no lack of genetic diversity in the collection and that pair-wise kinship values were relatively low. The clustering based on a Bayesian model of population structure did not reflect known variation in either provenance or inflorescence type. A principal coordinate analysis was, however, able to discriminate most of the varieties according to both of these criteria. About 1 in 100 marker pairs exhibited a degree of linkage disequilibrium. The association analysis identified a number of markers putatively linked to one or more of the traits. Some of these associations were robust over two seasons. The findings provide an in-depth understanding of genetic diversity and population structure present in cut flower chrysanthemum varieties, and an insight into the genetic control of plant architecture and inflorescence-related traits.

  12. Population and function analysis of cultivable bacteria associated with spores of arbuscular mycorrhizal fungus Gigaspora margarita.

    Science.gov (United States)

    Long, Liangkun; Lin, Qunying; Yao, Qing; Zhu, Honghui

    2017-05-01

    This study was aimed to investigate the diversity and function of bacterial population associated with Gigaspora margarita spores. The fungus was propagated in sterilized sand/soil pots using alfalfa (Medicago sativa), grain sorghum (Sorghum bicolor), or maize (Zea mays) as host plants, or in sterilized vermiculite pots using alfalfa as host plants, respectively. Bacteria were isolated from the new-formed spores using diluted plate method, and typical bacterial isolates were identified according to 16S rRNA gene phylogenetic analysis. Total 43 bacterial isolates affiliated to three phyla and 23 genera were obtained. The spore-associated bacterial communities were obviously different among the four source spores, suggesting that plant species or substrates could influence the bacterial population. Bacillus and Streptomyces were most frequently associated with the fungal spores. Function analysis of these bacteria by plate tests, it was found that about 30.2% isolates stimulated the spore germination, five out of seven tested isolates improved the hyphal growth, total 57.5% of the tested isolates solubilized phosphorus at different levels, 15% isolates degraded chitin, and a few isolates suppressed the growth of Escherichia coli or Staphylococcus aureus. In pot experiment, three bacterial isolates (belonging to Curtobacterium, Ensifer, or Bacillus, respectively) displayed improvement effect on alfalfa growth and/or the colonization of roots by G. margarita.

  13. Association of Common Variants in LOX with Keratoconus: A Meta-Analysis.

    Science.gov (United States)

    Zhang, Jing; Zhang, Lu; Hong, Jiaxu; Wu, Dan; Xu, Jianjiang

    2015-01-01

    Several case-control studies have been performed to examine the association of genetic variants in lysyl oxidase (LOX) with keratoconus. However, the results remained inconclusive and great heterogeneity might exist across populations. A comprehensive literature search for studies that published up to June 25, 2015 was performed. Summary odds ratios (OR) and 95% confidence intervals (CI) of each single nucleotide polymorphism (SNP) were estimated with fixed effects model when I250%. Publication bias was evaluated using funnel plots and Egger's test. A total of four studies including 1,467 keratoconus cases and 4,490 controls were involved in this meta-analysis. SNPs rs2956540 and rs10519694 showed significant association with keratoconus, with ORs of 0.71 (95% CI: 0.63-0.80, P = 1.43E-08) and 0.77 (95% CI: 0.61-0.97, P = 0.026), respectively. In contrast, our study lacked sufficient evidences to support the association of rs1800449/rs2288393 with keratoconus across populations. This meta-analysis suggested that two LOX variants, rs2956540 and rs10519694, may affect individual susceptibility to keratoconus, while distinct heterogeneity existed within this locus. Larger-scale and multi-ethnic genetic studies on keratoconus are required to further validate the results.

  14. The association between maternal smoking and placenta abruption: a meta-analysis.

    Science.gov (United States)

    Shobeiri, Fatemeh; Masoumi, Seyedeh Zahra; Jenabi, Ensiyeh

    2017-08-01

    Several epidemiological studies have determined that maternal smoking can increase the risk of placenta abruption. To date, only a meta-analysis has been performed for assessing the relationship between smoking and placenta abruption. This meta-analysis was conducted to estimate the association between smoking and the risk of placenta abruption. A literature search was conducted in major databases such as PubMed, Web of Science, and Scopus from the earliest possible year to April 2016. The heterogeneity across studies was explored by Q-test and I 2 statistic. The publication bias was assessed using Begg's and Egger's tests. The results were reported using odds ratio (OR) estimate with its 95% confidence intervals (CI) using a random effects model. The literature search yielded 1167 publications until April 2016 with 4 309 610 participants. Based on OR estimates obtained from case-control and cohort studies, there was a significant association between smoking and placenta abruption (1.80; 95% CI: 1.75, 1.85). Based on the results of cohort studies, smoking and placenta abruption had a significant association (relative risk ratio: 1.65; 95% CI: 1.51, 1.80). Based on reports in epidemiological studies, we showed that smoking is a risk factor for placenta abruption.

  15. Increased Risk for Falling Associated with Subtle Cognitive Impairment: Secondary Analysis of a Randomized Clinical Trial

    Science.gov (United States)

    Gleason, Carey E.; Gangnon, Ronald E.; Fischer, Barbara L.; Mahoney, Jane E.

    2009-01-01

    Background/Aims Having dementia increases patients’ risk for accidental falls. However, it is unknown if having mild cognitive deficits also elevates a person's risk for falls. This study sought to clarify the relationship between subtle cognitive impairment, measured with a widely-used, clinic-based assessment, the Mini Mental State Exam (MMSE), and risk for falls. Methods In a secondary analysis of the Kenosha County Falls Prevention Study, a randomized controlled trial targeting older adults at risk for falls, we examined the association between baseline MMSE and prospective rate of falls over 12 months in 172 subjects randomized to control group. Results Using univariate analysis, the rate of falls increased with each unit decrease in MMSE score down to at least 22 (rate ratio 1.25, 95% confidence interval (CI) 1.09–1.45, p = 0.0026). Using stepwise multivariate regression, controlling for ability to perform activities of daily living, use of assistive device, current exercise, and arthritis, the association between MMSE score and falls rate persisted (rate ratio 1.20, 95% CI 1.03–1.40, p = 0.021). Conclusion Minimal decrements on the MMSE were associated with elevations in rate of falls, suggesting that subtle cognitive deficits reflected in MMSE scores above a cut-off consistent with a diagnosis of dementia, can influence risk for falls. PMID:19602883

  16. The study of associative learning: mapping from psychological to neural levels of analysis.

    Science.gov (United States)

    Delamater, Andrew R; Lattal, K Matthew

    2014-02-01

    One of the major achievements of the last century of research in experimental psychology is the identification of a coherent set of theories and principles to characterize the nature of simple forms of associative learning. Major advances are also currently being made at a rapid pace in the neurobiology of associative learning, and, interestingly, we are beginning to see how a mapping from a psychological level of analysis to underlying neurobiological mechanisms is possible. This collection of papers honors the illustrative careers of four major learning theorists from the experimental psychology tradition (Robert Rescorla, Allan Wagner, Nicholas Mackintosh, Anthony Dickinson) who have helped shape our understanding of behavioral principles. The collection of works in this special issue reflects common interests among researchers working at both psychological and neurobiological levels of analysis towards a more comprehensive understanding of basic associative learning processes as they relate to several key issues identified and intensively studied by these influential learning theorists. These consist of the questions regarding (1) the critical conditions enabling learning, (2) the contents of learning, and (3) the rules that translate learning into performance. In one way or another, the separate contributions in this issue address these fundamental questions as they relate to a wide variety of currently exciting topics in the study of the neurobiology of learning and memory. Copyright © 2013 Elsevier Inc. All rights reserved.

  17. Analysis of the premitting processes associated with exploration of Federal OCS leases. Final report

    Energy Technology Data Exchange (ETDEWEB)

    1980-11-01

    Under contract to the Office of Leasing Policy Development (LPDO), Jack Faucett Associates is currently undertaking the description and analysis of the Outer Continental Shelf (OCS) regulatory process to determine the nature of time delays that affect OCS production of oil and gas. This report represents the results of the first phase of research under this contract, the description and analysis of regulatory activity associated with exploration activities on the Federal OCS. Volume 1 contains the following three sections: (1) study results; (2) Federal regulatory activities during exploration of Federal OCS leases which involved the US Geological Survey, Environmental Protection Agency, US Coast Guard, Corps of Engineers, and National Ocean and Atmospheric Administration; and (3) state regulatory activities during exploration of Federal OCS leases of Alaska, California, Louisiana, Massachusetts, New Jersey, North Carolina, and Texas. Volume II contains appendices of US Geological Survey, Environmental Protection Agency, Coast Guard, Corps of Engineers, the Coastal Zone Management Act, and Alaska. The major causes of delay in the regulatory process governing exploration was summarized in four broad categories: (1) the long and tedious process associated with the Environmental Protection Agency's implementation of the National Pollutant Discharge Elimination System Permit; (2) the lack of mandated time periods for the completion of individual activities in the permitting process; (3) the lack of overall coordination of OCS exploratory regulation; and (4) the inexperience of states, the Federal government and industry relating to the appropriate level of regulation for first-time lease sale areas.

  18. Association Between MGMT Promoter Methylation and Breast Cancer: a Meta-Analysis.

    Science.gov (United States)

    An, Nairui; Shi, Yu; Ye, Peng; Pan, Zhongya; Long, Xinghua

    2017-01-01

    Numerous studies have suggested that the promoter methylation status of O6-methylguanine-DNA methyltransferase (MGMT) is significantly associated with breast cancer. However, these studies have not demonstrated consistent results. To obtain more accurate results for this possible association, we performed a meta-analysis-based study using the relevant data. A total of 14 articles were included in this meta-analysis. Our study showed that the frequency of MGMT promoter methylation was significantly higher in patients with breast cancer than non-breast cancer subjects with an Odds Ratio (OR) of 4.47, a 95% Confidence Interval (CI) ranging between 1.95 - 10.25 and a P value of 0.0004. Moreover, MGMT methylation was significantly associated with the negative expression of the MGMT protein (OR = 4.65, 95%CI = 2.66 - 8.12, P 50 (OR = 1.07, 95%CI = 0.46 - 2.51, P = 0.88). Our study suggests that MGMT promoter methylation may be an early biomarker for the diagnosis of breast cancer. © 2017 The Author(s). Published by S. Karger AG, Basel.

  19. Association between Serum Homocysteine Level and Obstructive Sleep Apnea: A Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Kun Li

    2017-01-01

    Full Text Available Background. Obstructive sleep apnea (OSA is a common problem that affects human health. Researches have reported a variety of results with reference to the association between OSA and serum homocysteine (Hcy level. This meta-analysis is proposed to figure out the association between serum Hcy level and OSA. Methods. Eligible studies were identified via searching PubMed, Embase, and China National Knowledge Infrastructure (CNKI. Two independent reviewers reviewed studies. The Newcastle-Ottawa Quality Assessment Scale (NOS was employed for quality assessment of included studies. RevMan (5.1 software and STATA (12.0 software were applied to data analyses. Results. 10 studies containing 839 subjects were included in the present meta-analysis; results revealed that Hcy levels in OSA group were 2.40 μmol/l higher than that in control group (95% confidence interval: 0.6 to 4.20, P= 30. Conclusions. Serum Hcy levels and OSA have close-knit and significant association. Analyses demonstrated that patients with OSA had a higher serum Hcy level than healthy controls. In addition, this difference is more significant in moderate or severe OSA patients.

  20. A multicentered prospective analysis of diagnosis, risk factors, and outcomes associated with pediatric ventilator-associated pneumonia.

    Science.gov (United States)

    Gupta, Sameer; Boville, Brian M; Blanton, Rachel; Lukasiewicz, Gloria; Wincek, Jeni; Bai, Chunhong; Forbes, Michael L

    2015-03-01

    To assess risk factors and outcomes associated with pediatric ventilator-associated pneumonia. Multicentered prospective observational cohort. Children's hospitals in the United States. Mechanically ventilated patients less than 18 years old. Prospective evaluation of the prevalence, risk factors, and outcomes of pediatric ventilator-associated pneumonia along with evaluation of diagnostic criterion for pediatric ventilator-associated pneumonia. The prevalence of pediatric ventilator-associated pneumonia was 5.2% (n = 2,082), for a rate of 7.1/1,000 ventilator days. Patients with ventilator-associated pneumonia had a longer unadjusted ICU length of stay (p factors, ICU length of stay (p = 0.03) and mechanical ventilation days (p = 0.001) remained significant. Patients with ventilator-associated pneumonia were almost three times more likely to die (p = 0.007). Independent risk factors for ventilator-associated pneumonia were reintubation and part-time ventilation. Pediatric ventilator-associated pneumonia is common in mechanically ventilated pediatric patients. These patients have longer length of stay, longer duration of mechanical ventilation, and increased risk for mortality.

  1. Associations between depression and specific childhood experiences of abuse and neglect: A meta-analysis.

    Science.gov (United States)

    Infurna, Maria Rita; Reichl, Corinna; Parzer, Peter; Schimmenti, Adriano; Bifulco, Antonia; Kaess, Michael

    2016-01-15

    Research documents a strong relationship between childhood maltreatment and depression. However, only few studies have examined the specific effects of various types of childhood abuse/neglect on depression. This meta-analysis estimated the associations between depression and different types of childhood maltreatment (antipathy, neglect, physical abuse, sexual abuse, and psychological abuse) assessed with the same measure, the Childhood Experience of Care and Abuse (CECA) interview. A systematic search in scientific databases included use of CECA interview and strict clinical assessment for major depression as criteria. Our meta-analysis utilized Cohen's d and relied on a random-effects model. The literature search yielded 12 primary studies (reduced from 44), with a total of 4372 participants and 34 coefficients. Separate meta-analyses for each type of maltreatment revealed that psychological abuse and neglect were most strongly associated with the outcome of depression. Sexual abuse, although significant, was less strongly related. Furthermore, the effects of specific types of childhood maltreatment differed across adult and adolescent samples. Our strict criteria for selecting the primary studies resulted in a small numbers of available studies. It restricted the analyses for various potential moderators. This meta-analysis addressed the differential effects of type of childhood maltreatment on major depression, partially explaining between-study variance. The findings clearly highlight the potential impact of the more "silent" types of childhood maltreatment (other than physical and sexual abuse) on the development of depression. Copyright © 2015 Elsevier B.V. All rights reserved.

  2. Analysis of obstruction reason of urban sewer using spatial association rules

    Science.gov (United States)

    Zhu, Hongmei; Luo, Yu

    2009-10-01

    Sewerage network is an important part of municipal infrastructure for a city. Obstruction of sewer causes street flooding and affects people's daily life directly. To investigate reasons why some sewage pipes are blocked frequently in Kunming, China, we employ spatial analysis and data mining technology to analyze the data on the basis of a municipal sewerage geographic information system of the city. In the GIS, all of map layers and attribute tables are organized and saved in a relational database with Geodatabase model. First, we combined SQL attribute query with spatial location query to find out the sewage pipes that are blocked frequently. Then, we carried out buffer analysis and intersect analysis on the layers of the frequently-blocked pipes and buildings along the streets to extract buildings that are close to these frequently-blocked pipes. Joining the buildings in the buffer scope and the frequently-blocked pipes forms a big table prepared for spatial data mining. We used Apriori algorithm to mine spatial association rules from the data in the big table in order to search implicit reasons of obstruction of the pipes. The results from data mining indicate that strong spatial and non-spatial associate rules exist between the obstruction and restaurants in the buildings, as well as attribute slopes and diameters of these sewage pipes.

  3. Pathway analysis for genome-wide association study of lung cancer in Han Chinese population.

    Directory of Open Access Journals (Sweden)

    Ruyang Zhang

    Full Text Available Genome-wide association studies (GWAS have identified a number of genetic variants associated with lung cancer risk. However, these loci explain only a small fraction of lung cancer hereditability and other variants with weak effect may be lost in the GWAS approach due to the stringent significance level after multiple comparison correction. In this study, in order to identify important pathways involving the lung carcinogenesis, we performed a two-stage pathway analysis in GWAS of lung cancer in Han Chinese using gene set enrichment analysis (GSEA method. Predefined pathways by BioCarta and KEGG databases were systematically evaluated on Nanjing study (Discovery stage: 1,473 cases and 1,962 controls and the suggestive pathways were further to be validated in Beijing study (Replication stage: 858 cases and 1,115 controls. We found that four pathways (achPathway, metPathway, At1rPathway and rac1Pathway were consistently significant in both studies and the P values for combined dataset were 0.012, 0.010, 0.022 and 0.005 respectively. These results were stable after sensitivity analysis based on gene definition and gene overlaps between pathways. These findings may provide new insights into the etiology of lung cancer.

  4. Meta-analysis: Association of Helicobacter pylori infection with Parkinson's diseases.

    Science.gov (United States)

    Shen, Xiaoli; Yang, Huazhen; Wu, Yili; Zhang, Dongfeng; Jiang, Hong

    2017-10-01

    The results from observational studies on the relationship between helicobacter pylori (H. pylori) infection and Parkinson's disease remain controversial. A meta-analysis was conducted to evaluate the association between helicobacter pylori infection and Parkinson's disease. A comprehensive literature search was performed on relevant studies published from January 1983 to January 2017 in PubMed, Web of Science and EMBASE databases. The fixed or random effects model was used to pool the odds ratio with 95% confidence interval from individual studies. Publication bias was estimated by Egger's test and the funnel plot. Eight eligible studies involving 33 125 participants were included in this meta-analysis. Compared with the no helicobacter pylori infected person, the pooled odds ratio of Parkinson's disease in helicobacter pylori infected person was 1.59 (95% confidence interval: 1.37-1.85). In subgroup analyzes, the combined odds ratios were 1.96 (1.23-3.12) in Asia, 1.55 (1.32-1.82) in Europe, 1.59 (1.35-1.88) in case-control studies, 1.56 (1.01-2.39) in cross-sectional studies, 1.56 (1.32-1.85) in studies with confounders adjusted, and 1.71 (1.21-2.43) in studies with no confounder adjusted, respectively. This meta-analysis indicated that H. pylori infection might be associated with the risk of Parkinson's disease. © 2017 John Wiley & Sons Ltd.

  5. Association of androgen receptor gene CAG and GGN repeat polymorphism with cryptorchidism: A meta-analysis.

    Science.gov (United States)

    Wang, Qi; Ge, Xing; Wang, Heng-Xue; Shi, Qiao-Mei; Ding, Zhen; Xu, Li-Chun

    2018-04-01

    Researches on association between variations in the androgen receptor (AR) gene repeat polymorphisms and cryptorchidism (CO) had conflicting results. The aim of this meta-analysis was to analyse the potential effects of AR CAG and/or GGN repeat polymorphism on CO. Studies were independently appraised by two investigators on PubMed, Web of Science, EBSCO databases and Foreign Medical Retrieval System. Case-control studies with measurement of CAG and/or GGN repeat length were included. Weighted mean difference (WMD) and 95% confidence intervals (CIs) for the CAG or GGN repeat polymorphism and CO were calculated. Five reports were included in this analysis. Overall, no difference was identified between patients and fertile men in CAG repeat length. However, when the CO was divided into unilateral and bilateral, longer CAG repeat region was significantly associated with CO in bilateral group (WMD = 0.74; 95% CI, 0.01-1.47; p < .05). In addition, GGN lengths were significantly higher in patients compared with those in controls (WMD = 1.17; 95% CI, 0.28-2.06; p < .05). No obvious effect was found in the GGN length when compared unilateral or bilateral group with control respectively. The results in this meta-analysis indicated that AR CAG and GGN repeat polymorphisms may be an important pathogenesis of CO. © 2017 Blackwell Verlag GmbH.

  6. The experience of electroconvulsive therapy and its impact on associated stigma: A meta-analysis.

    Science.gov (United States)

    Aoki, Yuta; Yamaguchi, Sosei; Ando, Shuntaro; Sasaki, Natsuki; Bernick, Peter J; Akiyama, Tsuyoshi

    2016-12-01

    Despite its efficacy and safety, electroconvulsive therapy (ECT) is underutilized, in part due to stigma associated with the treatment. The aim of this study was to test the hypothesis that experiencing ECT has an impact on associated stigma, as measured by patient and family knowledge of and attitudes toward ECT. A comprehensive literature search was conducted using MEDLINE, EMBASE and PsycINFO. Studies with cross-sectional and/or longitudinal designs were identified. Studies were further categorized into subcategories based on participant type (patients or patient family members) and outcome domain (knowledge or attitudes). Effect size (Cohen's d) was calculated for each study and then integrated into each subcategory (participant type by outcome domain) using a random effect model. Eight studies were identified as being eligible for analysis. Two studies were cross-sectional, five were longitudinal and one incorporated both designs. Analysis of the longitudinal studies indicated that experiencing ECT both increased knowledge of and improved attitudes toward ECT in patients; in family members of patients, analysis showed significant positive change in knowledge of ECT, but no significant change in attitudes toward ECT. Experience with ECT may have a positive impact on knowledge of and attitudes toward ECT. However, the quality of evidence of included studies was low; further research is required in order to clarify the relationship and to identify information of use to individuals considering ECT as a treatment option. © The Author(s) 2016.

  7. Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome

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    Thiago Corrêa

    2018-01-01

    Full Text Available Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS, a contiguous gene deletion syndrome involving variable size deletions. In this study, we perform a cytogenomic integrative analysis combining classical cytogenetic methods, fluorescence in situ hybridization (FISH, chromosomal microarray analysis (CMA, and systems biology strategies, to establish the cytogenomic profile involving the 4p16.3 critical region and suggest WHS-related intracellular cell signaling cascades. The cytogenetic and clinical patient profiles were evaluated. We characterized 12 terminal deletions, one interstitial deletion, two ring chromosomes, and one classical translocation 4;8. CMA allowed delineation of the deletions, which ranged from 3.7 to 25.6 Mb with breakpoints from 4p16.3 to 4p15.33. Furthermore, the smallest region of overlapping (SRO encompassed seven genes in a terminal region of 330 kb in the 4p16.3 region, suggesting a region of susceptibility to convulsions and microcephaly. Therefore, molecular interaction networks and topological analysis were performed to understand these WHS-related symptoms. Our results suggest that specific cell signaling pathways including dopamine receptor, NAD+ nucleosidase activity, and fibroblast growth factor-activated receptor activity are associated with the diverse pathological WHS phenotypes and their symptoms. Additionally, we identified 29 hub-bottlenecks (H-B nodes with a major role in WHS.

  8. Association between Helicobacter pylori Infection and Chronic Urticaria: A Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Huiyuan Gu

    2015-01-01

    Full Text Available Background. Some studies have shown the possible involvement of Helicobacter pylori (H. pylori infection in chronic urticaria, but the relationship remains controversial. The aim of this meta-analysis was to quantitatively assess the association between H. pylori infection and chronic urticaria. Methods. Observational studies comparing the prevalence of H. pylori infection in patients with chronic urticaria and control subjects were identified through a systematic search in MEDLINE and EMBASE up to July 2014. H. pylori infection was confirmed by serological or nonserological tests. For subgroup analyses, studies were separated by region, publication year, and H. pylori detection method to screen the potential factors resulting in heterogeneity. Results. 16 studies involving 965 CU cases and 1235 controls were included. Overall, the prevalence of H. pylori infection was higher in urticarial patients than in controls (OR = 1.66; 95% CI: 1.12–2.45; P=0.01. This result persisted in subanalysis of nine high-quality studies (OR = 1.36; 95% CI: 1.03–1.80; P=0.03. Subgroup analysis showed that detection method of H. pylori is also a potential influential factor for the overall results. Conclusions. Our present meta-analysis suggests that H. pylori infection is significantly, though weakly, associated with an increased risk of chronic urticaria.

  9. Logistic regression analysis for the identification of the metastasis-associated signaling pathways of osteosarcoma.

    Science.gov (United States)

    Liu, Yang; Sun, Wei; Ma, Xiaojun; Hao, Yuedong; Liu, Gang; Hu, Xiaohui; Shang, Houlai; Wu, Pengfei; Zhao, Zexue; Liu, Weidong

    2018-03-01

    Osteosarcoma (OS) is the most common histological type of primary bone cancer. The present study was designed to identify the key genes and signaling pathways involved in the metastasis of OS. Microarray data of GSE39055 were downloaded from the Gene Expression Omnibus database, which included 19 OS biopsy specimens before metastasis (control group) and 18 OS biopsy specimens after metastasis (case group). After the differentially expressed genes (DEGs) were identified using the Linear Models for Microarray Analysis package, hierarchical clustering analysis and unsupervised clustering analysis were performed separately, using orange software and the self-organization map method. Based upon the Database for Annotation, Visualization and Integrated Discovery tool and Cytoscape software, enrichment analysis and protein-protein interaction (PPI) network analysis were conducted, respectively. After function deviation scores were calculated for the significantly enriched terms, hierarchical clustering analysis was performed using Cluster 3.0 software. Furthermore, logistic regression analysis was used to identify the terms that were significantly different. Those terms that were significantly different were validated using other independent datasets. There were 840 DEGs in the case group. There were various interactions in the PPI network [including intercellular adhesion molecule-1 (ICAM1), transforming growth factor β1 (TGFB1), TGFB1-platelet-derived growth factor subunit B (PDGFB) and PDGFB-platelet‑derived growth factor receptor-β (PDGFRB)]. Regulation of cell migration, nucleotide excision repair, the Wnt signaling pathway and cell migration were identified as the terms that were significantly different. ICAM1, PDGFB, PDGFRB and TGFB1 were identified to be enriched in cell migration and regulation of cell migration. Nucleotide excision repair and the Wnt signaling pathway were the metastasis-associated pathways of OS. In addition, ICAM1, PDGFB, PDGFRB

  10. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

    DEFF Research Database (Denmark)

    Anderson, Carl A; Boucher, Gabrielle; Lees, Charlie W

    2011-01-01

    Genome-wide association studies and candidate gene studies in ulcerative colitis have identified 18 susceptibility loci. We conducted a meta-analysis of six ulcerative colitis genome-wide association study datasets, comprising 6,687 cases and 19,718 controls, and followed up the top association s...

  11. Pharmacogenetic Associations of Antipsychotic Drug-Related Weight Gain: A Systematic Review and Meta-analysis

    Science.gov (United States)

    Zhang, Jian-Ping; Lencz, Todd; Zhang, Ryan X.; Nitta, Masahiro; Maayan, Lawrence; John, Majnu; Robinson, Delbert G.; Fleischhacker, W. Wolfgang; Kahn, Rene S.; Ophoff, Roel A.; Kane, John M.; Malhotra, Anil K.; Correll, Christoph U.

    2016-01-01

    Although weight gain is a serious but variable adverse effect of antipsychotics that has genetic underpinnings, a comprehensive meta-analysis of pharmacogenetics of antipsychotic-related weight gain is missing. In this review, random effects meta-analyses were conducted for dominant and recessive models on associations of specific single nucleotide polymorphisms (SNP) with prospectively assessed antipsychotic-related weight or body mass index (BMI) changes (primary outcome), or categorical increases in weight or BMI (≥7%; secondary outcome). Published studies, identified via systematic database search (last search: December 31, 2014), plus 3 additional cohorts, including 222 antipsychotic-naïve youth, and 81 and 141 first-episode schizophrenia adults, each with patient-level data at 3 or 4 months treatment, were meta-analyzed. Altogether, 72 articles reporting on 46 non-duplicated samples (n = 6700, mean follow-up = 25.1wk) with 38 SNPs from 20 genes/genomic regions were meta-analyzed (for each meta-analysis, studies = 2–20, n = 81–2082). Eleven SNPs from 8 genes were significantly associated with weight or BMI change, and 4 SNPs from 2 genes were significantly associated with categorical weight or BMI increase. Combined, 13 SNPs from 9 genes (Adrenoceptor Alpha-2A [ADRA2A], Adrenoceptor Beta 3 [ADRB3], Brain-Derived Neurotrophic Factor [BDNF], Dopamine Receptor D2 [DRD2], Guanine Nucleotide Binding Protein [GNB3], 5-Hydroxytryptamine (Serotonin) Receptor 2C [HTR2C], Insulin-induced gene 2 [INSIG2], Melanocortin-4 Receptor [MC4R], and Synaptosomal-associated protein, 25kDa [SNAP25]) were significantly associated with antipsychotic-related weight gain (P-values antipsychotic exposure (pediatric or first episode patients) and short follow-up (1–2 mo) were associated with larger effect sizes. Individual antipsychotics did not significantly moderate effect sizes. In conclusion, antipsychotic-related weight gain is polygenic and associated with specific genetic

  12. Association analysis of genetic variants in the myosin IXB gene in acute pancreatitis.

    Directory of Open Access Journals (Sweden)

    Rian M Nijmeijer

    Full Text Available INTRODUCTION: Impairment of the mucosal barrier plays an important role in the pathophysiology of acute pancreatitis. The myosin IXB (MYO9B gene and the two tight-junction adaptor genes, PARD3 and MAGI2, have been linked to gastrointestinal permeability. Common variants of these genes are associated with celiac disease and inflammatory bowel disease, two other conditions in which intestinal permeability plays a role. We investigated genetic variation in MYO9B, PARD3 and MAGI2 for association with acute pancreatitis. METHODS: Five single nucleotide polymorphisms (SNPs in MYO9B, two SNPs in PARD3, and three SNPs in MAGI2 were studied in a Dutch cohort of 387 patients with acute pancreatitis and over 800 controls, and in a German cohort of 235 patients and 250 controls. RESULTS: Association to MYO9B and PARD3 was observed in the Dutch cohort, but only one SNP in MYO9B and one in MAGI2 showed association in the German cohort (p < 0.05. Joint analysis of the combined cohorts showed that, after correcting for multiple testing, only two SNPs in MYO9B remained associated (rs7259292, p = 0.0031, odds ratio (OR 1.94, 95% confidence interval (95% CI 1.35-2.78; rs1545620, p = 0.0006, OR 1.33, 95% CI 1.16-1.53. SNP rs1545620 is a non-synonymous SNP previously suspected to impact on ulcerative colitis. None of the SNPs showed association to disease severity or etiology. CONCLUSION: Variants in MYO9B may be involved in acute pancreatitis, but we found no evidence for involvement of PARD3 or MAGI2.

  13. Genome-wide association analysis of oxidative stress resistance in Drosophila melanogaster.

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    Allison L Weber

    Full Text Available Aerobic organisms are susceptible to damage by reactive oxygen species. Oxidative stress resistance is a quantitative trait with population variation attributable to the interplay between genetic and environmental factors. Drosophila melanogaster provides an ideal system to study the genetics of variation for resistance to oxidative stress.We used 167 wild-derived inbred lines of the Drosophila Genetic Reference Panel for a genome-wide association study of acute oxidative stress resistance to two oxidizing agents, paraquat and menadione sodium bisulfite. We found significant genetic variation for both stressors. Single nucleotide polymorphisms (SNPs associated with variation in oxidative stress resistance were often sex-specific and agent-dependent, with a small subset common for both sexes or treatments. Associated SNPs had moderately large effects, with an inverse relationship between effect size and allele frequency. Linear models with up to 12 SNPs explained 67-79% and 56-66% of the phenotypic variance for resistance to paraquat and menadione sodium bisulfite, respectively. Many genes implicated were novel with no known role in oxidative stress resistance. Bioinformatics analyses revealed a cellular network comprising DNA metabolism and neuronal development, consistent with targets of oxidative stress-inducing agents. We confirmed associations of seven candidate genes associated with natural variation in oxidative stress resistance through mutational analysis.We identified novel candidate genes associated with variation in resistance to oxidative stress that have context-dependent effects. These results form the basis for future translational studies to identify oxidative stress susceptibility/resistance genes that are evolutionary conserved and might play a role in human disease.

  14. Genome-Wide Gene Set Analysis for Identification of Pathways Associated with Alcohol Dependence

    Science.gov (United States)

    Biernacka, Joanna M.; Geske, Jennifer; Jenkins, Gregory D.; Colby, Colin; Rider, David N.; Karpyak, Victor M.; Choi, Doo-Sup; Fridley, Brooke L.

    2013-01-01

    It is believed that multiple genetic variants with small individual effects contribute to the risk of alcohol dependence. Such polygenic effects are difficult to detect in genome-wide association studies that test for association of the phenotype with each single nucleotide polymorphism (SNP) individually. To overcome this challenge, gene set analysis (GSA) methods that jointly test for the effects of pre-defined groups of genes have been proposed. Rather than testing for association between the phenotype and individual SNPs, these analyses evaluate the global evidence of association with a set of related genes enabling the identification of cellular or molecular pathways or biological processes that play a role in development of the disease. It is hoped that by aggregating the evidence of association for all available SNPs in a group of related genes, these approaches will have enhanced power to detect genetic associations with complex traits. We performed GSA using data from a genome-wide study of 1165 alcohol dependent cases and 1379 controls from the Study of Addiction: Genetics and Environment (SAGE), for all 200 pathways listed in the Kyoto Encyclopedia of Genes and Genomes (KEGG) database. Results demonstrated a potential role of the “Synthesis and Degradation of Ketone Bodies” pathway. Our results also support the potential involvement of the “Neuroactive Ligand Receptor Interaction” pathway, which has previously been implicated in addictive disorders. These findings demonstrate the utility of GSA in the study of complex disease, and suggest specific directions for further research into the genetic architecture of alcohol dependence. PMID:22717047

  15. Genome-wide gene-set analysis for identification of pathways associated with alcohol dependence.

    Science.gov (United States)

    Biernacka, Joanna M; Geske, Jennifer; Jenkins, Gregory D; Colby, Colin; Rider, David N; Karpyak, Victor M; Choi, Doo-Sup; Fridley, Brooke L

    2013-03-01

    It is believed that multiple genetic variants with small individual effects contribute to the risk of alcohol dependence. Such polygenic effects are difficult to detect in genome-wide association studies that test for association of the phenotype with each single nucleotide polymorphism (SNP) individually. To overcome this challenge, gene-set analysis (GSA) methods that jointly test for the effects of pre-defined groups of genes have been proposed. Rather than testing for association between the phenotype and individual SNPs, these analyses evaluate the global evidence of association with a set of related genes enabling the identification of cellular or molecular pathways or biological processes that play a role in development of the disease. It is hoped that by aggregating the evidence of association for all available SNPs in a group of related genes, these approaches will have enhanced power to detect genetic associations with complex traits. We performed GSA using data from a genome-wide study of 1165 alcohol-dependent cases and 1379 controls from the Study of Addiction: Genetics and Environment (SAGE), for all 200 pathways listed in the Kyoto Encyclopedia of Genes and Genomes (KEGG) database. Results demonstrated a potential role of the 'synthesis and degradation of ketone bodies' pathway. Our results also support the potential involvement of the 'neuroactive ligand-receptor interaction' pathway, which has previously been implicated in addictive disorders. These findings demonstrate the utility of GSA in the study of complex disease, and suggest specific directions for further research into the genetic architecture of alcohol dependence.

  16. Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes

    Directory of Open Access Journals (Sweden)

    Kwiatkowski Dominic P

    2010-05-01

    Full Text Available Abstract Background The TNF/LTA locus has been a long-standing T2D candidate gene. Several studies have examined association of TNF/LTA SNPs with T2D but the majority have been small-scale and produced no convincing evidence of association. The purpose of this study is to examine T2D association of tag SNPs in the TNF/LTA region capturing the majority of common variation in a large-scale sample set of UK/Irish origin. Methods This study comprised a case-control (1520 cases and 2570 control samples and a family-based component (423 parent-offspring trios. Eleven tag SNPs (rs928815, rs909253, rs746868, rs1041981 (T60N, rs1800750, rs1800629 (G-308A, rs361525 (G-238A, rs3093662, rs3093664, rs3093665, and rs3093668 were selected across the TNF/LTA locus and genotyped using a fluorescence-based competitive allele specific assay. Quality control of the obtained genotypes was performed prior to single- and multi-point association analyses under the additive model. Results We did not find any consistent SNP associations with T2D in the case-control or family-based datasets. Conclusions The present study, designed to analyse a set of tag SNPs specifically selected to capture the majority of common variation in the TNF/LTA gene region, found no robust evidence for association with T2D. To investigate the presence of smaller effects of TNF/LTA gene variation with T2D, a large-scale meta-analysis will be required.

  17. Fournier gangrene: description of 37 cases and analysis of associated health care costs.

    Science.gov (United States)

    Jiménez-Pacheco, A; Arrabal-Polo, M Á; Arias-Santiago, S; Arrabal-Martín, M; Nogueras-Ocaña, M; Zuluaga-Gómez, A

    2012-01-01

    Fournier gangrene is a urological emergency associated with a high mortality. It is a necrotizing fasciitis caused by polymicrobial infection originating in the anorectal or genitourinary area. The aim of this study was to analyze the epidemiological and clinical characteristics of Fournier gangrene along with the variables that influence disease course and mortality in patients treated in our department. We carried out a retrospective study of 37 patients diagnosed with Fournier gangrene between January 2001 and October 2010. All the patients were men, 43.2% had diabetes, and the mean age of the patients was 57.68 years. Statistically significant differences were observed between the age of surviving patients and that of patients who died (55.8 and 69.6 years, respectively). The mean hospital stay was 27.54 days and 32.4% of patients required admission to the intensive care unit. Etiology was unknown in 39.8% of cases. Polymicrobial infection was observed in 59.5% of cases. The mean health care cost associated with a patient diagnosed with Fournier gangrene admitted to intensive care and requiring at least 1 procedure in the operating room was €25,108.67. Mortality was 13.5%. Based on analysis of individual comorbid conditions, only ischemic heart disease displayed a statistically significant association with mortality due to Fournier gangrene; ischemic heart disease was also associated with longer hospital stay. Fournier gangrene is associated with high mortality despite appropriate early treatment. Although the condition is infrequent, the high associated health care costs suggest that primary and secondary prevention measures should be implemented. Copyright © 2011 Elsevier España, S.L. and AEDV. All rights reserved.

  18. [Fournier gangrene: description of 37 cases and analysis of associated health care costs].

    Science.gov (United States)

    Jiménez-Pacheco, A; Arrabal-Polo, M Á; Arias-Santiago, S; Arrabal-Martín, M; Nogueras-Ocaña, M; Zuluaga-Gómez, A

    2012-01-01

    Fournier gangrene is a urological emergency associated with a high mortality. It is a necrotizing fasciitis caused by polymicrobial infection originating in the anorectal or genitourinary area. The aim of this study was to analyze the epidemiological and clinical characteristics of Fournier gangrene along with the variables that influence disease course and mortality in patients treated in our department. We carried out a retrospective study of 37 patients diagnosed with Fournier gangrene between January 2001 and October 2010. All of the patients were men, 43.2% had diabetes, and the mean age of the patients was 57.68 years. Statistically significant differences were observed between the age of surviving patients and that of patients who died (55.8 and 69.6 years, respectively). The mean hospital stay was 27.54 days and 32.4% of patients required admission to the intensive care unit. Etiology was unknown in 39.8% of cases. Polymicrobial infection was observed in 59.5% of cases. The mean health care cost associated with a patient diagnosed with Fournier gangrene admitted to intensive care and requiring at least 1 procedure in the operating room was €25,108.67. Mortality was 13.5%. Based on analysis of individual comorbid conditions, only ischemic heart disease displayed a statistically significant association with mortality due to Fournier gangrene; ischemic heart disease was also associated with longer hospital stay. Fournier gangrene is associated with high mortality despite appropriate early treatment. Although the condition is infrequent, the high associated health care costs suggest that primary and secondary prevention measures should be implemented. Copyright © 2011 Elsevier España, S.L. and AEDV. All rights reserved.

  19. The association between maternal dietary micronutrient intake and neonatal anthropometry - secondary analysis from the ROLO study.

    Science.gov (United States)

    Horan, Mary K; McGowan, Ciara A; Gibney, Eileen R; Donnelly, Jean M; McAuliffe, Fionnuala M

    2015-10-07

    Micronutrients are necessary for fetal growth. However increasingly pregnant women are nutritionally replete and little is known about the effect of maternal micronutrient intakes on fetal adiposity in mothers with increased BMI. The aim of this study was to examine the association of maternal dietary micronutrient intake with neonatal size and adiposity in a cohort at risk of macrosomia. This was a cohort analysis of 554 infants from the ROLO study. Three day food diaries from each trimester were collected. Neonatal weight, length, circumferences and skinfold thicknesses were measured at birth. Multiple linear regression was used to identify associations between micronutrient intakes and neonatal anthropometry. Birthweight was negatively associated with maternal trimester 3 vitamin D intake and positively associated with trimester 3 vitamin B12 intake R2adj 19.8% (F = 13.19, p anthropometry even in women not at risk of malnutrition. Further research is necessary to determine optimal micronutrient intake in overweight and obese pregnant women. Current Controlled Trials ISRCTN54392969.

  20. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.

    Science.gov (United States)

    Felix, Janine F; Bradfield, Jonathan P; Monnereau, Claire; van der Valk, Ralf J P; Stergiakouli, Evie; Chesi, Alessandra; Gaillard, Romy; Feenstra, Bjarke; Thiering, Elisabeth; Kreiner-Møller, Eskil; Mahajan, Anubha; Pitkänen, Niina; Joro, Raimo; Cavadino, Alana; Huikari, Ville; Franks, Steve; Groen-Blokhuis, Maria M; Cousminer, Diana L; Marsh, Julie A; Lehtimäki, Terho; Curtin, John A; Vioque, Jesus; Ahluwalia, Tarunveer S; Myhre, Ronny; Price, Thomas S; Vilor-Tejedor, Natalia; Yengo, Loïc; Grarup, Niels; Ntalla, Ioanna; Ang, Wei; Atalay, Mustafa; Bisgaard, Hans; Blakemore, Alexandra I; Bonnefond, Amelie; Carstensen, Lisbeth; Eriksson, Johan; Flexeder, Claudia; Franke, Lude; Geller, Frank; Geserick, Mandy; Hartikainen, Anna-Liisa; Haworth, Claire M A; Hirschhorn, Joel N; Hofman, Albert; Holm, Jens-Christian; Horikoshi, Momoko; Hottenga, Jouke Jan; Huang, Jinyan; Kadarmideen, Haja N; Kähönen, Mika; Kiess, Wieland; Lakka, Hanna-Maaria; Lakka, Timo A; Lewin, Alexandra M; Liang, Liming; Lyytikäinen, Leo-Pekka; Ma, Baoshan; Magnus, Per; McCormack, Shana E; McMahon, George; Mentch, Frank D; Middeldorp, Christel M; Murray, Clare S; Pahkala, Katja; Pers, Tune H; Pfäffle, Roland; Postma, Dirkje S; Power, Christine; Simpson, Angela; Sengpiel, Verena; Tiesler, Carla M T; Torrent, Maties; Uitterlinden, André G; van Meurs, Joyce B; Vinding, Rebecca; Waage, Johannes; Wardle, Jane; Zeggini, Eleftheria; Zemel, Babette S; Dedoussis, George V; Pedersen, Oluf; Froguel, Philippe; Sunyer, Jordi; Plomin, Robert; Jacobsson, Bo; Hansen, Torben; Gonzalez, Juan R; Custovic, Adnan; Raitakari, Olli T; Pennell, Craig E; Widén, Elisabeth; Boomsma, Dorret I; Koppelman, Gerard H; Sebert, Sylvain; Järvelin, Marjo-Riitta; Hyppönen, Elina; McCarthy, Mark I; Lindi, Virpi; Harri, Niinikoski; Körner, Antje; Bønnelykke, Klaus; Heinrich, Joachim; Melbye, Mads; Rivadeneira, Fernando; Hakonarson, Hakon; Ring, Susan M; Smith, George Davey; Sørensen, Thorkild I A; Timpson, Nicholas J; Grant, Struan F A; Jaddoe, Vincent W V

    2016-01-15

    A large number of genetic loci are associated with adult body mass index. However, the genetics of childhood body mass index are largely unknown. We performed a meta-analysis of genome-wide association studies of childhood body mass index, using sex- and age-adjusted standard deviation scores. We included 35 668 children from 20 studies in the discovery phase and 11 873 children from 13 studies in the replication phase. In total, 15 loci reached genome-wide significance (P-value genetic risk score combining all 15 SNPs showed that each additional average risk allele was associated with a 0.073 SDS (SE 0.011, P-value = 3.12 × 10(-10)) increase in childhood body mass index in a population of 1955 children. This risk score explained 2% of the variance in childhood body mass index. This study highlights the shared genetic background between childhood and adult body mass index and adds three novel loci. These loci likely represent age-related differences in strength of the associations with body mass index. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  1. Microarray analysis of genes associated with cell surface NIS protein levels in breast cancer.

    Science.gov (United States)

    Beyer, Sasha J; Zhang, Xiaoli; Jimenez, Rafael E; Lee, Mei-Ling T; Richardson, Andrea L; Huang, Kun; Jhiang, Sissy M

    2011-10-11

    Na+/I- symporter (NIS)-mediated iodide uptake allows radioiodine therapy for thyroid cancer. NIS is also expressed in breast tumors, raising potential for radionuclide therapy of breast cancer. However, NIS expression in most breast cancers is low and may not be sufficient for radionuclide therapy. We aimed to identify biomarkers associated with NIS expression such that mechanisms underlying NIS modulation in human breast tumors may be elucidated. Published oligonucleotide microarray data within the National Center for Biotechnology Information Gene Expression Omnibus database were analyzed to identify gene expression tightly correlated with NIS mRNA level among human breast tumors. NIS immunostaining was performed in a tissue microarray composed of 28 human breast tumors which had corresponding oligonucleotide microarray data available for each tumor such that gene expression associated with cell surface NIS protein level could be identified. NIS mRNA levels do not vary among breast tumors or when compared to normal breast tissues when detected by Affymetrix oligonucleotide microarray platforms. Cell surface NIS protein levels are much more variable than their corresponding NIS mRNA levels. Despite a limited number of breast tumors examined, our analysis identified cysteinyl-tRNA synthetase as a biomarker that is highly associated with cell surface NIS protein levels in the ER-positive breast cancer subtype. Further investigation on genes associated with cell surface NIS protein levels within each breast cancer molecular subtype may lead to novel targets for selectively increasing NIS expression/function in a subset of breast cancers patients.

  2. Analysis of the Survival of Children Under Five in Indonesia and Associated Factors

    Science.gov (United States)

    Nur Islami Warrohmah, Annisa; Maniar Berliana, Sarni; Nursalam, Nursalam; Efendi, Ferry; Haryanto, Joni; Has, Eka Misbahatul M.; Ulfiana, Elida; Dwi Wahyuni, Sylvia

    2018-02-01

    The under-five mortality rate (U5MR) remains a challenge for developing nations, including Indonesia. This study aims to assess the key factors associated with mortality of Indonesian infants using survival analysis. Data taken from 14,727 live-born infants (2007-2012) was examined from the nationally representative Indonesian Demographic Health Survey. The Weibull hazard model was performed to analyse the socioeconomic status and related determinants of infant mortality. The findings indicated that mother factors (education, working status, autonomy, economic status, maternal age at birth, birth interval, type of births, complications, history of previous mortality, breastfeeding, antenatal care and place of delivery); infant factors (birth size); residence; and environmental conditions were associated with the childhood mortality. Rural or urban residence was an important determining factor of infant mortality. For example, considering the factor of a mother’s education, rural educated mothers had a significant association with the survival of their infants. In contrast, there was no significant association between urban educated mothers and their infants’ mortality. The results showed obvious contextual differences which determine the childhood mortality. Socio-demographic and economic factors remain critical in determining the death of infants. This study provides evidence for designing targeted interventions, as well as suggesting specific needs based on the population’s place of residence, in the issue of U5MR. Further interventions should also consider other identified variables while developing programmes to address infant’s needs.

  3. Quantitative bias analysis for epidemiological associations of perfluoroalkyl substance serum concentrations and early onset of menopause.

    Science.gov (United States)

    Ruark, Christopher D; Song, Gina; Yoon, Miyoung; Verner, Marc-André; Andersen, Melvin E; Clewell, Harvey J; Longnecker, Matthew P

    2017-02-01

    An association between increased serum concentrations of perfluoroalkyl substances (PFAS) such as perfluorooctane sulfonate (PFOS) and perfluorooctanoate (PFOA) and early menopause has been reported (Knox et al., 2011; Taylor et al., 2014). This association may be explained by the fact that women who underwent menopause no longer excrete PFAS through menstruation. Our objective was to assess how much of the epidemiologic association between PFAS and altered timing of menopause might be explained by reverse causality. We extended a published population life-stage physiologically-based pharmacokinetic (PBPK) model of PFOS and PFOA characterized by realistic distributions of physiological parameters including age at menopause. We then conducted Monte Carlo simulations to replicate the Taylor population (Taylor et al., 2014) and the Knox population (Knox et al., 2011). The analysis of the simulated data overall showed a pattern of results that was comparable to those reported in epidemiological studies. For example, in the simulated Knox population (ages 42-51) the odds ratio (OR) for menopause in the fifth quintile of PFOA compared to those in the first quintile was 1.33 (95% CI 1.26-1.40), whereas the reported OR was 1.4 (95% CI 1.1-1.8). Using our model structure, a substantial portion of the associations reported can be explained by pharmacokinetics. Copyright © 2016 Elsevier Ltd. All rights reserved.

  4. Injury and liability associated with monitored anesthesia care: a closed claims analysis.

    Science.gov (United States)

    Bhananker, Sanjay M; Posner, Karen L; Cheney, Frederick W; Caplan, Robert A; Lee, Lorri A; Domino, Karen B

    2006-02-01

    To assess the patterns of injury and liability associated with monitored anesthesia care (MAC) compared with general and regional anesthesia, the authors reviewed closed malpractice claims in the American Society of Anesthesiologists Closed Claims Database since 1990. All surgical anesthesia claims associated with MAC (n = 121) were compared with those associated with general (n = 1,519) and regional (n = 312) anesthesia. A detailed analysis of MAC claims was performed to identify causative mechanisms and liability patterns. MAC claims involved older and sicker patients compared with general anesthesia claims (P surgery (21%) or facial plastic surgery (26%). More than 40% of claims associated with MAC involved death or permanent brain damage, similar to general anesthesia claims. In contrast, the proportion of regional anesthesia claims with death or permanent brain damage was less (P surgery, resulted in burn injuries in 20 MAC claims (17%). Oversedation leading to respiratory depression was an important mechanism of patient injuries during MAC. Appropriate use of monitoring, vigilance, and early resuscitation could have prevented many of these injuries. Awareness and avoidance of the fire triad (oxidizer, fuel, and ignition source) is essential to prevent on-the-patient fires.

  5. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

    Science.gov (United States)

    Felix, Janine F.; Bradfield, Jonathan P.; Monnereau, Claire; van der Valk, Ralf J.P.; Stergiakouli, Evie; Chesi, Alessandra; Gaillard, Romy; Feenstra, Bjarke; Thiering, Elisabeth; Kreiner-Møller, Eskil; Mahajan, Anubha; Pitkänen, Niina; Joro, Raimo; Cavadino, Alana; Huikari, Ville; Franks, Steve; Groen-Blokhuis, Maria M.; Cousminer, Diana L.; Marsh, Julie A.; Lehtimäki, Terho; Curtin, John A.; Vioque, Jesus; Ahluwalia, Tarunveer S.; Myhre, Ronny; Price, Thomas S.; Vilor-Tejedor, Natalia; Yengo, Loïc; Grarup, Niels; Ntalla, Ioanna; Ang, Wei; Atalay, Mustafa; Bisgaard, Hans; Blakemore, Alexandra I.; Bonnefond, Amelie; Carstensen, Lisbeth; Eriksson, Johan; Flexeder, Claudia; Franke, Lude; Geller, Frank; Geserick, Mandy; Hartikainen, Anna-Liisa; Haworth, Claire M.A.; Hirschhorn, Joel N.; Hofman, Albert; Holm, Jens-Christian; Horikoshi, Momoko; Hottenga, Jouke Jan; Huang, Jinyan; Kadarmideen, Haja N.; Kähönen, Mika; Kiess, Wieland; Lakka, Hanna-Maaria; Lakka, Timo A.; Lewin, Alexandra M.; Liang, Liming; Lyytikäinen, Leo-Pekka; Ma, Baoshan; Magnus, Per; McCormack, Shana E.; McMahon, George; Mentch, Frank D.; Middeldorp, Christel M.; Murray, Clare S.; Pahkala, Katja; Pers, Tune H.; Pfäffle, Roland; Postma, Dirkje S.; Power, Christine; Simpson, Angela; Sengpiel, Verena; Tiesler, Carla M. T.; Torrent, Maties; Uitterlinden, André G.; van Meurs, Joyce B.; Vinding, Rebecca; Waage, Johannes; Wardle, Jane; Zeggini, Eleftheria; Zemel, Babette S.; Dedoussis, George V.; Pedersen, Oluf; Froguel, Philippe; Sunyer, Jordi; Plomin, Robert; Jacobsson, Bo; Hansen, Torben; Gonzalez, Juan R.; Custovic, Adnan; Raitakari, Olli T.; Pennell, Craig E.; Widén, Elisabeth; Boomsma, Dorret I.; Koppelman, Gerard H.; Sebert, Sylvain; Järvelin, Marjo-Riitta; Hyppönen, Elina; McCarthy, Mark I.; Lindi, Virpi; Harri, Niinikoski; Körner, Antje; Bønnelykke, Klaus; Heinrich, Joachim; Melbye, Mads; Rivadeneira, Fernando; Hakonarson, Hakon; Ring, Susan M.; Smith, George Davey; Sørensen, Thorkild I.A.; Timpson, Nicholas J.; Grant, Struan F.A.; Jaddoe, Vincent W.V.

    2016-01-01

    A large number of genetic loci are associated with adult body mass index. However, the genetics of childhood body mass index are largely unknown. We performed a meta-analysis of genome-wide association studies of childhood body mass index, using sex- and age-adjusted standard deviation scores. We included 35 668 children from 20 studies in the discovery phase and 11 873 children from 13 studies in the replication phase. In total, 15 loci reached genome-wide significance (P-value childhood obesity. We identified three novel loci: rs13253111 near ELP3, rs8092503 near RAB27B and rs13387838 near ADAM23. Per additional risk allele, body mass index increased 0.04 Standard Deviation Score (SDS) [Standard Error (SE) 0.007], 0.05 SDS (SE 0.008) and 0.14 SDS (SE 0.025), for rs13253111, rs8092503 and rs13387838, respectively. A genetic risk score combining all 15 SNPs showed that each additional average risk allele was associated with a 0.073 SDS (SE 0.011, P-value = 3.12 × 10−10) increase in childhood body mass index in a population of 1955 children. This risk score explained 2% of the variance in childhood body mass index. This study highlights the shared genetic background between childhood and adult body mass index and adds three novel loci. These loci likely represent age-related differences in strength of the associations with body mass index. PMID:26604143

  6. Race, Sex, and Discrimination in School Settings: A Multilevel Analysis of Associations With Delinquency.

    Science.gov (United States)

    Chambers, Brittany D; Erausquin, Jennifer Toller

    2018-02-01

    Adolescence is a critical phase of development and experimentation with delinquent behaviors. There is a growing body of literature exploring individual and structural impacts of discrimination on health outcomes and delinquent behaviors. However, there is limited research assessing how school diversity and discrimination impact students' delinquent behaviors. In response, the purpose of this study was to assess if individual- and school-level indicators of discrimination and diversity were associated with student delinquent behaviors among African American and White students. We analyzed Wave I (1994-1995) data from the National Longitudinal Study of Adolescent Health. Our analysis was limited to 8947 African American and White students (73% White, 48% male, and 88% parent ≥ high school education). We used multilevel zero-inflated negative binomial regression to test the association of individual- and school characteristics and discrimination with the number of self-reported delinquent behaviors. Race, sex, perceived peer inclusion, and teacher discrimination were predictors of students' delinquent behaviors. The average school perceived peer inclusion and percentage of African Americans in teaching roles were associated with delinquent behaviors. Findings from this study highlight the potential for intervention at the interpersonal and school levels to reduce delinquency among African American and White students. © 2018, American School Health Association.

  7. Concepts to elucidate the pattern-associated analysis of tooth marks in court.

    Science.gov (United States)

    Bernitz, H

    2005-03-01

    Increased awareness by crime scene detectives has led to a rise in number of bite mark associated cases appearing before the South African courts. This has led to an increased number of dentists being subpoenaed to give forensic evidence. The purpose of this paper was to elucidate the presentation of evidence in pattern associated tooth mark analysis. Three aspects are discussed. They are the basic principle of pattern association, the effects of limited shrinkage and distortion on the pattern of the tooth marks, and finally how to overcome the difficulties that court personnel experience in visualising bite marks. The author has applied these basic concepts over the past six years. Judges and defence advocates have been able to understand the simple concepts and apply them to the more complex issues before them. The concepts described should be familiar to all dentists and forensic odontologists giving tooth mark evidence in the high court. They will assist in explaining all aspects of pattern association to the legal fraternity and aid in the presentation of the evidence. Their strength is in their simplicity.

  8. Association between endogenous cortisol level and the risk of central serous chorioretinopathy: a Meta-analysis.

    Science.gov (United States)

    Liang, Zhi-Qiao; Huang, Lyu-Zhen; Qu, Jin-Feng; Zhao, Ming-Wei

    2018-01-01

    To assess the association between endogenous cortisol level and the risk of central serous chorioretinopathy (CSC). Case-control studies were systematically searched on PubMed, Embase, Cochrane, China National Knowledge Infrastructure (CNKI) for publishes between January 1990 and July 2017 to assess the association between endogenous cortisol level and CSC. The main endpoints were serum cortisol level at 8 a.m. and 24-hour urine 17-hydroxysteroids level. We assessed pooled data using a random-effects model. Of 86 identified studies, 5 were eligible included in our analysis. The 5 studies included a total of 315 participants, of whom 187 had CSC. Statistically significant association was observed between serum cortisol level (summary SMD=0.77, 95%CI=0.55-0.99), 24-hour urine 17-hydroxysteroids level (summary SMD=0.95, 95%CI=0.61-1.30), and the risk of CSC. Endogenous cortisol level is associated with an increased risk of CSC. Combined treatment targeting the serum cortisol level at 8 a.m. and 24-hour urine 17-hydroxysteroids level can be a potential preventive strategy for individuals who are at risk of CSC and therapeutic strategy for patients with CSC.

  9. Associations among attachment, sexuality, and marital satisfaction in adult Chilean couples: a linear hierarchical models analysis.

    Science.gov (United States)

    Heresi Milad, Eliana; Rivera Ottenberger, Diana; Huepe Artigas, David

    2014-01-01

    This study aimed to explore the associations among attachment system type, sexual satisfaction, and marital satisfaction in adult couples in stable relationships. Participants were 294 couples between the ages of 20 and 70 years who answered self-administered questionnaires. Hierarchical linear modeling revealed that the anxiety and avoidance, sexual satisfaction, and marital satisfaction dimensions were closely related. Specifically, the avoidance dimension, but not the anxiety dimension, corresponded to lower levels of sexual and marital satisfaction. Moreover, for the sexual satisfaction variable, an interaction effect was observed between the gender of the actor and avoidance of the partner, which was observed only in men. In the marital satisfaction dimension, effects were apparent only at the individual level; a positive relation was found between the number of years spent living together and greater contentment with the relationship. These results confirm the hypothetical association between attachment and sexual and marital satisfaction and demonstrate the relevance of methodologies when the unit of analysis is the couple.

  10. Social Network Analysis on Lean Production and World Class Manufacturing: how are associated in the literature?

    Directory of Open Access Journals (Sweden)

    Gustavo Antiqueira Goes

    2017-06-01

    Full Text Available This paper aims to conduct a Systematic Literature Review (SLR to identify how to configure the publications that relate WCM and Lean Production issues. Therefore, a search on the Brazilian metasearch portal called CAPES Periodicals was conducted focusing on articles of the last five years. They were identified after screening and filtering a total of 42 articles, which were analyzed. The construction of the network analysis has identified that the issues are still in an initial phase of association, with the characteristic part of decentralizes networks, with some points of greatest association. It was also identified that the theme Lean Production has greater representation between the two topics due its higher use by authors.

  11. Analysis of factors associated with injury severity in crashes involving young New Zealand drivers

    DEFF Research Database (Denmark)

    Weiss, Harold B.; Kaplan, Sigal; Prato, Carlo Giacomo

    2014-01-01

    measures within youth-oriented road safety programs. The current study estimates discrete choice models of injury severity of crashes involving young drivers conditional on these crashes having occurred. The analysis examined a comprehensive set of single-vehicle and two-vehicle crashes involving at least......Young people are a risk to themselves and other road users, as motor vehicle crashes are the leading cause of their death. A thorough understanding of the most important factors associated with injury severity in crashes involving young drivers is important for designing well-targeted restrictive...... fit than a binary and a generalized ordered logit. Results show that the young drivers’ behavior, the presence of passengers and the involvement of vulnerable road users were the most relevant factors associated with higher injury severity in both single-vehicle and two-vehicle crashes. Seatbelt non...

  12. Two-level mixed modeling of longitudinal pedigree data for genetic association analysis

    DEFF Research Database (Denmark)

    Tan, Q.

    2013-01-01

    Genetic association analysis on complex phenotypes under a longitudinal design involving pedigrees encounters the problem of correlation within pedigrees which could affect statistical assessment of the genetic effects on both the mean level of the phenotype and its rate of change over the time...... of follow-up. Approaches have been proposed to integrate kinship correlation into the mixed effect models to explicitly model the genetic relationship which have been proven as an efficient way for dealing with sample clustering in pedigree data. Although useful for adjusting relatedness in the mixed...... assess the genetic associations with the mean level and the rate of change in a phenotype both with kinship correlation integrated in the mixed effect models. We apply our method to longitudinal pedigree data to estimate the genetic effects on systolic blood pressure measured over time in large pedigrees...

  13. Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

    DEFF Research Database (Denmark)

    Bonora, E.; Lamb, J.A.; Barnby, G.

    2005-01-01

    Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants...... in the genes CUTL1, LAMB1 and PTPRZ1. Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect...... for this variant. Association was also detected for several polymorphisms in the promoter and untranslated region of NRCAM, suggesting that alterations in expression of this gene may be linked to autism susceptibility....

  14. Association of body mass index and survival in pediatric leukemia: a meta-analysis.

    Science.gov (United States)

    Orgel, Etan; Genkinger, Jeanine M; Aggarwal, Divya; Sung, Lillian; Nieder, Michael; Ladas, Elena J

    2016-03-01

    Obesity is a worldwide epidemic in children and adolescents. Adult cohort studies have reported an association between higher body mass index (BMI) and increased leukemia-related mortality; whether a similar effect exists in childhood leukemia remains controversial. We conducted a meta-analysis to determine whether a higher BMI at diagnosis of pediatric acute lymphoblastic leukemia (ALL) or acute myeloid leukemia (AML) is associated with worse event-free survival (EFS), overall survival (OS), and cumulative incidence of relapse (CIR). We searched 4 electronic databases from inception through March 2015 without language restriction and included studies in pediatric ALL or AML (0-21 y of age) reporting BMI as a predictor of survival or relapse. Higher BMI, defined as obese (≥95%) or overweight/obese (≥85%), was compared with lower BMI [nonoverweight/obese (pediatric ALL or AML. © 2016 American Society for Nutrition.

  15. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

    DEFF Research Database (Denmark)

    Felix, Janine F; Bradfield, Jonathan P; Monnereau, Claire

    2016-01-01

    .011, P-value=3.12 x 10(-10)) increase in childhood body mass index in a population of 1,955 children. This risk score explained 2% of the variance in childhood body mass index. This study highlights the shared genetic background between childhood and adult body mass index and adds three novel loci......A large number of genetic loci are associated with adult body mass index. However, the genetics of childhood body mass index are largely unknown. We performed a meta-analysis of genome-wide association studies of childhood body mass index, using sex- and age-adjusted standard deviation scores. We...... included 35,668 children from 20 studies in the discovery phase and 11,873 children from 13 studies in the replication phase. In total, 15 loci reached genome-wide-significance (P-value

  16. Genome Analysis of Streptococcus pyogenes Associated with Pharyngitis and Skin Infections

    Science.gov (United States)

    Ibrahim, Joe; Eisen, Jonathan A.; Jospin, Guillaume; Coil, David A.; Khazen, Georges

    2016-01-01

    Streptococcus pyogenes is a very important human pathogen, commonly associated with skin or throat infections but can also cause life-threatening situations including sepsis, streptococcal toxic shock syndrome, and necrotizing fasciitis. Various studies involving typing and molecular characterization of S. pyogenes have been published to date; however next-generation sequencing (NGS) studies provide a comprehensive collection of an organism’s genetic variation. In this study, the genomes of nine S. pyogenes isolates associated with pharyngitis and skin infection were sequenced and studied for the presence of virulence genes, resistance elements, prophages, genomic recombination, and other genomic features. Additionally, a comparative phylogenetic analysis of the isolates with global clones highlighted their possible evolutionary lineage and their site of infection. The genomes were found to also house a multitude of features including gene regulation systems, virulence factors and antimicrobial resistance mechanisms. PMID:27977735

  17. Bayesian analysis of genetic association across tree-structured routine healthcare data in the UK Biobank.

    Science.gov (United States)

    Cortes, Adrian; Dendrou, Calliope A; Motyer, Allan; Jostins, Luke; Vukcevic, Damjan; Dilthey, Alexander; Donnelly, Peter; Leslie, Stephen; Fugger, Lars; McVean, Gil

    2017-09-01

    Genetic discovery from the multitude of phenotypes extractable from routine healthcare data can transform understanding of the human phenome and accelerate progress toward precision medicine. However, a critical question when analyzing high-dimensional and heterogeneous data is how best to interrogate increasingly specific subphenotypes while retaining statistical power to detect genetic associations. Here we develop and employ a new Bayesian analysis framework that exploits the hierarchical structure of diagnosis classifications to analyze genetic variants against UK Biobank disease phenotypes derived from self-reporting and hospital episode statistics. Our method displays a more than 20% increase in power to detect genetic effects over other approaches and identifies new associations between classical human leukocyte antigen (HLA) alleles and common immune-mediated diseases (IMDs). By applying the approach to genetic risk scores (GRSs), we show the extent of genetic sharing among IMDs and expose differences in disease perception or diagnosis with potential clinical implications.

  18. A guide to genome-wide association analysis and post-analytic interrogation.

    Science.gov (United States)

    Reed, Eric; Nunez, Sara; Kulp, David; Qian, Jing; Reilly, Muredach P; Foulkes, Andrea S

    2015-12-10

    This tutorial is a learning resource that outlines the basic process and provides specific software tools for implementing a complete genome-wide association analysis. Approaches to post-analytic visualization and interrogation of potentially novel findings are also presented. Applications are illustrated using the free and open-source R statistical computing and graphics software environment, Bioconductor software for bioinformatics and the UCSC Genome Browser. Complete genome-wide association data on 1401 individuals across 861,473 typed single nucleotide polymorphisms from the PennCATH study of coronary artery disease are used for illustration. All data and code, as well as additional instructional resources, are publicly available through the Open Resources in Statistical Genomics project: http://www.stat-gen.org. © 2015 The Authors. Statistics in Medicine Published by John Wiley & Sons Ltd.

  19. Statistics associated with an elemental analysis system of particles induced by X-ray emission

    International Nuclear Information System (INIS)

    Romo K, C.M.

    1987-01-01

    In the quantitative elemental analysis by X-ray techniques one has to use data spectra which present fluctuations of statistical nature both from the energy and from the number of counts accumulated. While processing the results for the obtainment of a quantitative result, a detailed knowledge of the associated statistics distributions is needed. In this work, l) the statistics associated with the system photon's counting as well as 2) the distribution of the results as a function of the energy are analyzed. The first one is important for the definition of the expected values and uncertainties and for the spectra simulation (Mukoyama, 1975). The second one is fundamental for the determination of the contribution for each spectral line. (M.R.) [es

  20. Organ Donation in Switzerland - An Analysis of Factors Associated with Consent Rate

    Science.gov (United States)

    Keel, Isabelle; Immer, Franz F.; Jüni, Peter

    2014-01-01

    Background and Aim Switzerland has a low post mortem organ donation rate. Here we examine variables that are associated with the consent of the deceased’s next of kin (NOK) for organ donation, which is a prerequisite for donation in Switzerland. Methods and Analysis During one year, we registered information from NOK of all deceased patients in Swiss intensive care units, who were approached for consent to organ donation. We collected data on patient demographics, characteristics of NOK, factors related to the request process and to the clinical setting. We analyzed the association of collected predictors with consent rate using univariable logistic regression models; predictors with p-values donation, and respecting personal values and cultural differences, could be of importance for increasing donation rates. Additional measures are needed to address the pronounced differences in consent rates between language regions. PMID:25208215

  1. Association between CD14 gene polymorphisms and cancer risk: a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Jun Wang

    Full Text Available BACKGROUND: Two polymorphisms, -260C/T and -651C/T, in the CD14 gene have been implicated in susceptibility to cancer. However, the results remain inconclusive. This meta-analysis aimed to investigate the association between the two polymorphisms and risk of cancer. METHODS: All eligible case-control studies published up to March 2014 were identified by searching PubMed, Web of Science, CNKI and WanFang database. Pooled odds ratio (OR with 95% confidence interval (CI were used to access the strength of this association in fixed- or random-effects model. RESULTS: 17 case-control studies from fourteen articles were included. Of those, there were 17 studies (4198 cases and 4194 controls for -260C/T polymorphism and three studies (832 cases and 1190 controls for -651C/T polymorphism. Overall, no significant associations between the two polymorphisms of CD14 gene and cancer risk were found. When stratified by ethnicity, cancer type and source of control, similar results were observed among them. In addition, in further subgroups analysis by Helicobacter pylori (H. pylori infection status and tumor location in gastric cancer subgroup, we found that the CD14 -260C/T polymorphism may increase the risk of gastric cancer in H. pylori-infected individuals. CONCLUSIONS: This meta-analysis suggests that the CD14 -260C/T polymorphism may increase the risk of gastric cancer in H. pylori-infected individuals. However, large and well-designed studies are warranted to validate our findings.

  2. Comparative analysis of copy number variations in ulcerative colitis associated and sporadic colorectal neoplasia

    International Nuclear Information System (INIS)

    Shivakumar, B. M.; Chakrabarty, Sanjiban; Rotti, Harish; Seenappa, Venu; Rao, Lakshmi; Geetha, Vasudevan; Tantry, B. V.; Kini, Hema; Dharamsi, Rajesh; Pai, C. Ganesh; Satyamoorthy, Kapaettu

    2016-01-01

    The incidence of and mortality from colorectal cancers (CRC) can be reduced by early detection. Currently there is a lack of established markers to detect early neoplastic changes. We aimed to identify the copy number variations (CNVs) and the associated genes which could be potential markers for the detection of neoplasia in both ulcerative colitis-associated neoplasia (UC-CRN) and sporadic colorectal neoplasia (S-CRN). We employed array comparative genome hybridization (aCGH) to identify CNVs in tissue samples of UC nonprogressor, progressor and sporadic CRC. Select genes within these CNV regions as a panel of markers were validated using quantitative real time PCR (qRT-PCR) method along with the microsatellite instability (MSI) in an independent cohort of samples. Immunohistochemistry (IHC) analysis was also performed. Integrated analysis showed 10 overlapping CNV regions between UC-Progressor and S-CRN, with the 8q and 12p regions showing greater overlap. The qRT-PCR based panel of MYC, MYCN, CCND1, CCND2, EGFR and FNDC3A was successful in detecting neoplasia with an overall accuracy of 54 % in S-CRN compared to that of 29 % in UC neoplastic samples. IHC study showed that p53 and CCND1 were significantly overexpressed with an increasing frequency from pre-neoplastic to neoplastic stages. EGFR and AMACR were expressed only in the neoplastic conditions. CNVs that are common and unique to both UC-associated and sporadic colorectal neoplasm could be the key players driving carcinogenesis. Comparative analysis of CNVs provides testable driver aberrations but needs further evaluation in larger cohorts of samples. These markers may help in developing more effective neoplasia-detection strategies during screening and surveillance programs. The online version of this article (doi:10.1186/s12885-016-2303-4) contains supplementary material, which is available to authorized users

  3. Rosacea is associated with Helicobacter pylori: a systematic review and meta-analysis.

    Science.gov (United States)

    Jørgensen, A-H R; Egeberg, A; Gideonsson, R; Weinstock, L B; Thyssen, E P; Thyssen, J P

    2017-12-01

    Rosacea is a common skin disease characterized by facial erythema, telangiectasia, papules and pustules. Helicobacter pylori infection has been suggested to play a role in the etiopathogenesis of rosacea. To systematically review and meta-analyse the relationship between rosacea and infection with Helicobacter pylori. A literature search was performed using PubMed, EMBASE and Web of Science. Data extraction and analyses were performed on descriptive data. Study quality was assessed using the Newcastle-Ottawa Scale. Random-effects models with DerSimonian-Laird methods were utilized to estimate pooled odds ratios (ORs), with 95% confidence intervals (95% CIs). Heterogeneity of results was assessed using I² statistics. A total of 454 articles were identified and 42 full-text articles were chosen for further review. Fourteen studies were included in the quantitative meta-analysis, comprising a total of 928 rosacea patients and 1527 controls. The overall association between Helicobacter pylori infection and rosacea was non-significant (OR 1.68, 95% CI 1.00-2.84, P = 0.052), but analysis restricted to C-urea breath test showed a significant association (OR 3.12, 95% CI 1.92-5.07, P rosacea symptoms was assessed in seven studies, but without significant effect (RR 1.28, 95% CI 0.98-1.67, P = 0.069). This meta-analysis found weak associations between rosacea and Helicobacter pylori infection as well as an effect of Helicobacter pylori therapy on rosacea symptoms, albeit that these did not reach statistical significance. Whether a pathogenic link between the two conditions exists, or whether Helicobacter pylori infection represents a proxy for other factors remains unknown. © 2017 European Academy of Dermatology and Venereology.

  4. A Co-Association Network Analysis of the Genetic Determination of Pig Conformation, Growth and Fatness

    Science.gov (United States)

    Puig-Oliveras, Anna; Ballester, Maria; Corominas, Jordi; Revilla, Manuel; Estellé, Jordi; Fernández, Ana I.; Ramayo-Caldas, Yuliaxis; Folch, Josep M.

    2014-01-01

    Background Several QTLs have been identified for major economically relevant traits in livestock, such as growth and meat quality, revealing the complex genetic architecture of these traits. The use of network approaches considering the interactions of multiple molecules and traits provides useful insights into the molecular underpinnings of complex traits. Here, a network based methodology, named Association Weight Matrix, was applied to study gene interactions and pathways affecting pig conformation, growth and fatness traits. Results The co-association network analysis underpinned three transcription factors, PPARγ, ELF1, and PRDM16 involved in mesoderm tissue differentiation. Fifty-four genes in the network belonged to growth-related ontologies and 46 of them were common with a similar study for growth in cattle supporting our results. The functional analysis uncovered the lipid metabolism and the corticotrophin and gonadotrophin release hormone pathways among the most important pathways influencing these traits. Our results suggest that the genes and pathways here identified are important determining either the total body weight of the animal and the fat content. For instance, a switch in the mesoderm tissue differentiation may determinate the age-related preferred pathways being in the puberty stage those related with the miogenic and osteogenic lineages; on the contrary, in the maturity stage cells may be more prone to the adipocyte fate. Hence, our results demonstrate that an integrative genomic co-association analysis is a powerful approach for identifying new connections and interactions among genes. Conclusions This work provides insights about pathways and key regulators which may be important determining the animal growth, conformation and body proportions and fatness traits. Molecular information concerning genes and pathways here described may be crucial for the improvement of genetic breeding programs applied to pork meat production. PMID:25503799

  5. A co-association network analysis of the genetic determination of pig conformation, growth and fatness.

    Directory of Open Access Journals (Sweden)

    Anna Puig-Oliveras

    Full Text Available Several QTLs have been identified for major economically relevant traits in livestock, such as growth and meat quality, revealing the complex genetic architecture of these traits. The use of network approaches considering the interactions of multiple molecules and traits provides useful insights into the molecular underpinnings of complex traits. Here, a network based methodology, named Association Weight Matrix, was applied to study gene interactions and pathways affecting pig conformation, growth and fatness traits.The co-association network analysis underpinned three transcription factors, PPARγ, ELF1, and PRDM16 involved in mesoderm tissue differentiation. Fifty-four genes in the network belonged to growth-related ontologies and 46 of them were common with a similar study for growth in cattle supporting our results. The functional analysis uncovered the lipid metabolism and the corticotrophin and gonadotrophin release hormone pathways among the most important pathways influencing these traits. Our results suggest that the genes and pathways here identified are important determining either the total body weight of the animal and the fat content. For instance, a switch in the mesoderm tissue differentiation may determinate the age-related preferred pathways being in the puberty stage those related with the miogenic and osteogenic lineages; on the contrary, in the maturity stage cells may be more prone to the adipocyte fate. Hence, our results demonstrate that an integrative genomic co-association analysis is a powerful approach for identifying new connections and interactions among genes.This work provides insights about pathways and key regulators which may be important determining the animal growth, conformation and body proportions and fatness traits. Molecular information concerning genes and pathways here described may be crucial for the improvement of genetic breeding programs applied to pork meat production.

  6. The association between mood state and chronobiological characteristics in bipolar I disorder: a naturalistic, variable cluster analysis-based study.

    Science.gov (United States)

    Gonzalez, Robert; Suppes, Trisha; Zeitzer, Jamie; McClung, Colleen; Tamminga, Carol; Tohen, Mauricio; Forero, Angelica; Dwivedi, Alok; Alvarado, Andres

    2018-02-19

    Multiple types of chronobiological disturbances have been reported in bipolar disorder, including characteristics associated with general activity levels, sleep, and rhythmicity. Previous studies have focused on examining the individual relationships between affective state and chronobiological characteristics. The aim of this study was to conduct a variable cluster analysis in order to ascertain how mood states are associated with chronobiological traits in bipolar I disorder (BDI). We hypothesized that manic symptomatology would be associated with disturbances of rhythm. Variable cluster analysis identified five chronobiological clusters in 105 BDI subjects. Cluster 1, comprising subjective sleep quality was associated with both mania and depression. Cluster 2, which comprised variables describing the degree of rhythmicity, was associated with mania. Significant associations between mood state and cluster analysis-identified chronobiological variables were noted. Disturbances of mood were associated with subjectively assessed sleep disturbances as opposed to objectively determined, actigraphy-based sleep variables. No associations with general activity variables were noted. Relationships between gender and medication classes in use and cluster analysis-identified chronobiological characteristics were noted. Exploratory analyses noted that medication class had a larger impact on these relationships than the number of psychiatric medications in use. In a BDI sample, variable cluster analysis was able to group related chronobiological variables. The results support our primary hypothesis that mood state, particularly mania, is associated with chronobiological disturbances. Further research is required in order to define these relationships and to determine the directionality of the associations between mood state and chronobiological characteristics.

  7. Alopecia and its association with coronary heart disease and cardiovascular risk factors: a meta-analysis.

    Science.gov (United States)

    Trieu, Nelson; Eslick, Guy D

    2014-10-20

    Alopecia has been associated with an increased risk of coronary heart disease as well as the following risk factors for cardiovascular disease: hyperinsulinaemia, insulin resistance, metabolic syndrome, dyslipidaemia, and hypertension. We performed a meta-analysis to quantitatively determine the level of risk of coronary heart disease and risk factors in individuals with alopecia. A systematic literature search was conducted using several databases. We calculated pooled odds ratios and 95% confidence intervals using a random effects model. In total, 31 studies comprising 29,254 participants with alopecia were eligible for the meta-analysis and showed that alopecia is associated with an increased risk of coronary heart disease (OR 1.22, 95% CI: 1.07-1.39), hyperinsulinaemia (OR 1.97, 95% CI: 1.20-3.21), insulin resistance (OR 4.88, 95% CI: 2.05-11.64), and metabolic syndrome (OR 4.49, 95% CI: 2.36-8.53). Individuals with alopecia were also shown to be more likely compared to those without alopecia to have higher serum cholesterol levels (OR 1.60, 95% CI: 1.17-2.21), higher serum triglyceride levels (OR 2.07, 95% CI: 1.32-3.25), higher systolic blood pressures (OR 1.73, 95% CI: 1.29-2.33), and higher diastolic blood pressures (OR 1.59, 95% CI: 1.16-2.18). Alopecia is associated with an increased risk of coronary heart disease, and there appears to be a dose-response relationship with degree of baldness whereby the greater the severity of alopecia, the greater the risk of coronary heart disease. Alopecia is also associated with an increased risk of hypertension, hyperinsulinaemia, insulin resistance, metabolic syndrome, and having elevated serum total cholesterol and triglyceride levels. Crown Copyright © 2014. Published by Elsevier Ireland Ltd. All rights reserved.

  8. Association between air pollution and cardiovascular mortality in China: a systematic review and meta-analysis.

    Science.gov (United States)

    Zhao, Lei; Liang, Heng-Rui; Chen, Feng-Ying; Chen, Zi; Guan, Wei-Jie; Li, Jian-Hua

    2017-09-12

    Air pollutant levels in many Chinese cities remained significantly higher than the upper limits stated in World Health Organization guidelines. In light of limited evidence in China, we conducted a meta-analysis summarizing the association between acute exposure of air pollution and cardiovascular mortality. We searched PubMed, and CNKI databases etc. for literature published in English or Chinese up to January 2017. Outcomes were pooled and compared using random-effects model. Excess risks (ERs) per 10 μg/m 3 increase in PM 2.5 , PM 10 , NO 2 , SO 2 and O 3 were evaluated. Subgroup analysis was conducted according to lag patterns (lags 0, 1, 2, 0-1, 0-2 days), gender (male vs. female), temperature (cool vs. warm) and age (articles identified, 30 met inclusion criteria. Each 10 μg/m 3 increase in the concentration was associated with a higher incidence of cardiovascular mortality for PM 2.5 (0.68%, 95% CI: 0.39-0.97%), PM 10 (0.39%, 95% CI: 0.26-0.53%), NO 2 (1.12%, 95% CI: 0.76-1.48%), SO 2 (0.75%, 95% CI: 0.42-1.09%), and O 3 (0.62%, 95% CI: 0.33-0.92%), respectively. Air pollution conferred greater adverse impacts on cardiovascular mortality for longer duration of exposures. Strongest associations were seen for lag 0-1 day of exposure among all pollutants. Female, lower temperature, and age > 65 years were associated with greater risks of cardiovascular mortality for all pollutants. Higher concentrations of air pollutants correlated with a greater short-term increase in cardiovascular mortality. Further high-quality studies in China are urgently warranted to determine the susceptible population, which would offer reference for policy-making to minimize adverse health effects.

  9. Functional analysis of Plasmodium falciparum subpopulations associated with artemisinin resistance in Cambodia.

    Science.gov (United States)

    Dwivedi, Ankit; Reynes, Christelle; Kuehn, Axel; Roche, Daniel B; Khim, Nimol; Hebrard, Maxim; Milanesi, Sylvain; Rivals, Eric; Frutos, Roger; Menard, Didier; Mamoun, Choukri Ben; Colinge, Jacques; Cornillot, Emmanuel

    2017-12-19

    Plasmodium falciparum malaria is one of the most widespread parasitic infections in humans and remains a leading global health concern. Malaria elimination efforts are threatened by the emergence and spread of resistance to artemisinin-based combination therapy, the first-line treatment of malaria. Promising molecular markers and pathways associated with artemisinin drug resistance have been identified, but the underlying molecular mechanisms of resistance remains unknown. The genomic data from early period of emergence of artemisinin resistance (2008-2011) was evaluated, with aim to define k13 associated genetic background in Cambodia, the country identified as epicentre of anti-malarial drug resistance, through characterization of 167 parasite isolates using a panel of 21,257 SNPs. Eight subpopulations were identified suggesting a process of acquisition of artemisinin resistance consistent with an emergence-selection-diffusion model, supported by the shifting balance theory. Identification of population specific mutations facilitated the characterization of a core set of 57 background genes associated with artemisinin resistance and associated pathways. The analysis indicates that the background of artemisinin resistance was not acquired after drug pressure, rather is the result of fixation followed by selection on the daughter subpopulations derived from the ancestral population. Functional analysis of artemisinin resistance subpopulations illustrates the strong interplay between ubiquitination and cell division or differentiation in artemisinin resistant parasites. The relationship of these pathways with the P. falciparum resistant subpopulation and presence of drug resistance markers in addition to k13, highlights the major role of admixed parasite population in the diffusion of artemisinin resistant background. The diffusion of resistant genes in the Cambodian admixed population after selection resulted from mating of gametocytes of sensitive and resistant

  10. A Meta-analysis on the Association Between Emotional Awareness and Borderline Personality Pathology.

    Science.gov (United States)

    Derks, Youri P M J; Westerhof, Gerben J; Bohlmeijer, Ernst T

    2017-06-01

    Theories on borderline personality pathology (BPP) suggest that characteristic emotional dysregulation is due to low levels of emotional awareness or alexithymia. This study is the first meta-analysis to systematically review and analyze the evidence. A systematic search of the literature was performed using PsycInfo, Web of Science/MEDLINE, and Scopus. The term "borderline personality disorder" was searched for in conjunction with "emotional awareness," "emotional self-awareness," "emotion recognition," "alexithymia," "emotional processing," "emotional granularity," "emotional intelligence," or "emotion regulation." All references in the included studies were reviewed for additional relevant articles. Thirty-nine studies were then evaluated in a random effects meta-analysis to assess the association between BPP and emotional awareness. An overall moderate positive association between BPP and emotional awareness was significant (r = 0.359; 95% CI [0.283, 0.431]; Z = 8.678; p personality disorder to healthy controls yielded a strong association (r = 0.518; 95% CI [0.411, 0.611]). No significant difference was found between studies using instruments for emotional awareness and those using alexithymia instruments. The strongest associations with regard to aspects of alexithymia were found for difficulties in identifying and describing emotions rather than externally oriented thinking. The results corroborate a moderate relationship between low emotional awareness and BPP. However, the mono-method self-report used in almost all studies is found problematic and precludes drawing definite conclusions. Since leading psychotherapeutic treatments strongly focus on increasing emotional awareness, future research should address this issue and further examine to what extent low levels of emotional awareness, particularly alexithymia, can be treated.

  11. Physical inactivity displays a mediator role in the association of diabetes and poverty: A spatiotemporal analysis

    Directory of Open Access Journals (Sweden)

    Lung-Chang Chien

    2017-11-01

    Full Text Available Physical inactivity is one of the risk factors of diabetes. In addition, physical inactivity is attributed to urbanization-related factors, such as poverty, which is also one of the risk factors of diabetes. We hypothesized that physical inactivity is a mediator in the association between diabetes and poverty, and that spatial heterogeneity exists in these relationships. This study adopted a spatiotemporal modelling approach to conduct this mediator analysis. From 2004-2011, data were collected at the county level in 48 contiguous states (with a total of 3,109 counties from the Behavioral Risk Factor Surveillance System (BRFSS and American Community Survey. Poverty percentage significantly affected physical inactivity prevalence and diabetes prevalence in two separate models. Using a model with both physical inactivity and poverty percentages as independent variables, we verified that physical inactivity prevalence is a significant mediator. In this model, physical inactivity prevalence resulted in a significant positive association with diabetes prevalence, and the influence of poverty percentage on diabetes prevalence was significantly reduced (P=0.0009. An advanced spatiotemporal analysis revealed that 32.65% of counties having a significant positive association between diabetes prevalence and physical inactivity prevalence also had a significant positive association between physical inactivity prevalence and poverty percentage. Those counties were also likely located in the South and Southeast of USA. In summary, the findings of this study demonstrate the mediating effect of physical inactivity between diabetes and poverty. When implementing diabetes prevention in communities with higher poverty, appropriate strategies to reduce the cost burden of physical activity programmes should be considered.

  12. Phylogenetic analysis of algal symbionts associated with four North American amphibian egg masses.

    Science.gov (United States)

    Kim, Eunsoo; Lin, Yuan; Kerney, Ryan; Blumenberg, Lili; Bishop, Cory

    2014-01-01

    Egg masses of the yellow-spotted salamander Ambystoma maculatum form an association with the green alga "Oophila amblystomatis" (Lambert ex Wille), which, in addition to growing within individual egg capsules, has recently been reported to invade embryonic tissues and cells. The binomial O. amblystomatis refers to the algae that occur in A. maculatum egg capsules, but it is unknown whether this population of symbionts constitutes one or several different algal taxa. Moreover, it is unknown whether egg masses across the geographic range of A. maculatum, or other amphibians, associate with one or multiple algal taxa. To address these questions, we conducted a phylogeographic study of algae sampled from egg capsules of A. maculatum, its allopatric congener A. gracile, and two frogs: Lithobates sylvatica and L. aurora. All of these North American amphibians form associations with algae in their egg capsules. We sampled algae from egg capsules of these four amphibians from localities across North America, established representative algal cultures, and amplified and sequenced a region of 18S rDNA for phylogenetic analysis. Our combined analysis shows that symbiotic algae found in egg masses of four North American amphibians are closely related to each other, and form a well-supported clade that also contains three strains of free-living chlamydomonads. We designate this group as the 'Oophila' clade, within which the symbiotic algae are further divided into four distinct subclades. Phylogenies of the host amphibians and their algal symbionts are only partially congruent, suggesting that host-switching and co-speciation both play roles in their associations. We also established conditions for isolating and rearing algal symbionts from amphibian egg capsules, which should facilitate further study of these egg mass specialist algae.

  13. Warfarin resumption following anticoagulant-associated intracranial hemorrhage: A systematic review and meta-analysis.

    Science.gov (United States)

    Chai-Adisaksopha, Chatree; Iorio, Alfonso; Hillis, Christopher; Siegal, Deborah; Witt, Daniel M; Schulman, Sam; Crowther, Mark

    2017-12-01

    This study aims to assess the effect of warfarin resumption in patients who experienced warfarin-associated intracranial hemorrhage (ICH). We conducted a systematic review and meta-analysis of studies evaluating the outcomes of adult patients who survived warfarin-associated ICH. We included studies that compared patients who resumed warfarin versus those who did not. Of 3145 studies screened, ten observational studies were included in the final analysis. Death occurred in 181 of 968 patients (18.7%) who resumed warfarin and 834 of 2579 (32.3%) who did not resume warfarin (RR 0.51, 95% CI 0.34 to 0.76, P=0.0009). Ischemic stroke occurred in 32 of 902 (3.5%) patients who resumed warfarin and 172 of 2467 (7.0%) patients who did not resume warfarin (RR 0.56, 95% CI 0.39 to 0.82, P=0.002). Venous thromboembolism occurred in 4 of 224 (1.8%) patients who resumed warfarin and of 33 of 681 (4.8%) patients who did not resume warfarin (RR 0.39, 95% CI, 0.15 to 1.03, P=0.06). Recurrent ICH occurred in 200 of 2994 (6.7%) patients who resumed warfarin and 358 of 4652 (7.7%) patients who did not resume warfarin (RR 0.89, 95% CI 0.65 to 1.23, P=0.49). The study suggests that warfarin resumption is associated with significant reduction in ischemic stroke and venous thromboembolism when compared to no warfarin resumption in patients who experience warfarin-associated ICH. Although these results are strongly supportive of restarting anticoagulation, prospective studies are required to confirm our results due to the high likelihood of bias in the included studies. Copyright © 2017 Elsevier Ltd. All rights reserved.

  14. Phylogenetic analysis of algal symbionts associated with four North American amphibian egg masses.

    Directory of Open Access Journals (Sweden)

    Eunsoo Kim

    Full Text Available Egg masses of the yellow-spotted salamander Ambystoma maculatum form an association with the green alga "Oophila amblystomatis" (Lambert ex Wille, which, in addition to growing within individual egg capsules, has recently been reported to invade embryonic tissues and cells. The binomial O. amblystomatis refers to the algae that occur in A. maculatum egg capsules, but it is unknown whether this population of symbionts constitutes one or several different algal taxa. Moreover, it is unknown whether egg masses across the geographic range of A. maculatum, or other amphibians, associate with one or multiple algal taxa. To address these questions, we conducted a phylogeographic study of algae sampled from egg capsules of A. maculatum, its allopatric congener A. gracile, and two frogs: Lithobates sylvatica and L. aurora. All of these North American amphibians form associations with algae in their egg capsules. We sampled algae from egg capsules of these four amphibians from localities across North America, established representative algal cultures, and amplified and sequenced a region of 18S rDNA for phylogenetic analysis. Our combined analysis shows that symbiotic algae found in egg masses of four North American amphibians are closely related to each other, and form a well-supported clade that also contains three strains of free-living chlamydomonads. We designate this group as the 'Oophila' clade, within which the symbiotic algae are further divided into four distinct subclades. Phylogenies of the host amphibians and their algal symbionts are only partially congruent, suggesting that host-switching and co-speciation both play roles in their associations. We also established conditions for isolating and rearing algal symbionts from amphibian egg capsules, which should facilitate further study of these egg mass specialist algae.

  15. Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide

    Science.gov (United States)

    Turner, Stephen T.; Boerwinkle, Eric; O'Connell, Jeffrey R.; Bailey, Kent R.; Gong, Yan; Chapman, Arlene B.; McDonough, Caitrin W.; Beitelshees, Amber L.; Schwartz, Gary L.; Gums, John G.; Padmanabhan, Sandosh; Hiltunen, Timo P.; Citterio, Lorena; Donner, Kati M.; Hedner, Thomas; Lanzani, Chiara; Melander, Olle; Saarela, Janna; Ripatti, Samuli; Wahlstrand, Björn; Manunta, Paolo; Kontula, Kimmo; Dominiczak, Anna F.; Cooper-DeHoff, Rhonda M.; Johnson, Julie A.

    2013-01-01

    To identify novel genes influencing blood pressure response to thiazide diuretic therapy for hypertension, we conducted genome-wide association meta-analyses of ≈1.1 million single nucleotide polymorphisms in a combined sample of 424 European Americans with primary hypertension treated with hydrochlorothiazide from the Pharmacogenomic Evaluation of Antihypertensive Responses Study (N=228) and the Genetic Epidemiology of Responses to Antihypertensive Study (N=196). Polymorphisms associated with blood pressure response at phydrochlorothiazide-treated European hypertensives. The rs16960228 polymorphism in protein kinase C, alpha replicated for same-direction association with diastolic blood pressure response in the Nordic Diltiazem Study (N=420) and the Genetics of Drug Responsiveness in Essential Hypertension Study (N=206), and the combined four-study meta-analysis p-value achieved genome-wide significance (p=3.3 × 10-8). Systolic/diastolic blood pressure responses were consistently greater in carriers of the rs16960228 A allele than in GG homozygotes (4/4 mmHg greater) across study samples. The rs2273359 polymorphism in the GNAS-EDN3 region also replicated for same-direction association with systolic blood pressure response in the Nordic Diltiazem Study, and the combined three-study meta-analysis p-value approached genome-wide significance (p=5.5 × 10-8). The findings document clinically-important effects of genetic variation at novel loci on blood pressure response to a thiazide diuretic, which may be a basis for individualization of antihypertensive drug therapy and identification of new drug targets. PMID:23753411

  16. Phylogenetic Analysis of Fusarium solani Associated with the Asian Longhorned Beetle, Anoplophora glabripennis

    Directory of Open Access Journals (Sweden)

    Kelli Hoover

    2012-02-01

    Full Text Available Culture-independent analysis of the gut of a wood-boring insect, Anoplophora glabripennis (Coleoptera: Cerambycidae, revealed a consistent association between members of the fungal Fusarium solani species complex and the larval stage of both colony-derived and wild A. glabripennis populations. Using the translation elongation factor 1-alpha region for culture-independent phylogenetic and operational taxonomic unit (OTU-based analyses, only two OTUs were detected, suggesting that genetic variance at this locus was low among A. glabripennis-associated isolates. To better survey the genetic variation of F. solani associated with A. glabripennis, and establish its phylogenetic relationship with other members of the F. solani species complex, single spore isolates were created from different populations and multi-locus phylogenetic analysis was performed using a combination of the translation elongation factor alpha-1, internal transcribed spacer, and large subunit rDNA regions. These analyses revealed that colony-derived larvae reared in three different tree species or on artificial diet, as well as larvae from wild populations collected from three additional tree species in New York City and from a single tree species in Worcester, MA, consistently harbored F. solani within their guts. While there is some genetic variation in the F. solani carried between populations, within-population variation is low. We speculate that F. solani is able to fill a broad niche in the A. glabripennis gut, providing it with fungal lignocellulases to allow the larvae to grow and develop on woody tissue. However, it is likely that many F. solani genotypes could potentially fill this niche, so the relationship may not be limited to a single member of the F. solani species complex. While little is known about the role of filamentous fungi and their symbiotic associations with insects, this report suggests that larval A. glabripennis has developed an intimate relationship

  17. Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

    DEFF Research Database (Denmark)

    Bonora, E.; Lamb, J.A.; Barnby, G.

    2005-01-01

    Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants...... in the genes CUTL1, LAMB1 and PTPRZ1. Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect...

  18. Association analysis of whole genome sequencing data accounting for longitudinal and family designs.

    Science.gov (United States)

    Hu, Yijuan; Hui, Qin; Sun, Yan V

    2014-01-01

    Using the whole genome sequencing data and the simulated longitudinal phenotypes for 849 pedigree-based individuals from Genetic Analysis Workshop 18, we investigated various approaches to detecting the association of rare and common variants with blood pressure traits. We compared three strategies for longitudinal data: (a) using the baseline measurement only, (b) using the average from multiple visits, and (c) using all individual measurements. We also compared the power of using all of the pedigree-based data and the unrelated subset. The analyses were performed without knowledge of the underlying simulating model.

  19. Alcohol dependence: analysis of factors associated with retention of patients in outpatient treatment.

    Science.gov (United States)

    Fonsi Elbreder, Márcia; de Souza e Silva, Rebeca; Pillon, Sandra Cristina; Laranjeira, Ronaldo

    2011-01-01

    To identify factors associated with retention in treatment of alcohol-dependent individuals and to compare treatment retention between men and women. Analysis of the treatment attendance records and baseline characteristics of 833 men and 218 women who undertook to attend follow-up treatment in an alcoholism treatment centre. Retention after 4 weeks of treatment is more likely to occur among those using adjuvant medication (the most frequent of which was disulfiram), those presenting severe alcoholism and those who are older and tend to be frequent drinkers. There was no gender difference regarding treatment retention. Such results suggest possibilities for developing specific strategies to reduce the risk of early dropout from treatment.

  20. Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

    OpenAIRE

    Law, P. J.; Berndt, S. I.; Speedy, H. E.; Camp, N. J.; Sava, G. P.; Skibola, C. F.; Holroyd, A.; Joseph, V.; Sunter, N. J.; Nieters, A.; Bea, S.; Monnereau, A.; Martin-Garcia, D.; Goldin, L. R.; Clot, G.

    2017-01-01

    Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed using a merged reference panel of 1,000 Genomes and UK10K data, totalling 6,200 cases and 17,598 controls after replication. We identify nine risk loci at 1p36.11 (rs34676223, P=5.04 × 10(-13)), 1q42.13 (rs41271473, P=1.06 × 10(-10)), 4q24 (rs71597109, P=1.37 × 10(-10)), 4q3...

  1. Association between bacterial vaginosis and cervical intraepithelial neoplasia: systematic review and meta-analysis.

    Directory of Open Access Journals (Sweden)

    Evy Gillet

    Full Text Available OBJECTIVE: Bacterial vaginosis (BV, the most common vaginal disorder among women of reproductive age, has been suggested as co-factor in the development of cervical cancer. Previous studies examining the relationship between BV and cervical intra-epithelial neoplasia (CIN provided inconsistent and conflicting results. The aim of this study is to clarify the association between these two conditions. METHODS: A systematic review and meta-analysis were conducted to summarize published literature on the association between BV and cervical pre-cancerous lesions. An extensive search of electronic databases Medline (Pubmed and Web of Science was performed. The key words 'bacterial vaginosis' and 'bacterial infections and vaginitis' were used in combination with 'cervical intraepithelial neoplasia', 'squamous intraepithelial lesions', 'cervical lesions', 'cervical dysplasia', and 'cervical screening'. Eligible studies required a clear description of diagnostic methods used for detecting both BV and cervical pre-cancerous lesions. Publications were included if they either reported odds ratios (OR and corresponding 95% confidence intervals (CI representing the magnitude of association between these two conditions, or presented data that allowed calculation of the OR. RESULTS: Out of 329 articles, 17 cross-sectional and 2 incidence studies were selected. In addition, two studies conducted in The Netherlands, using the national KOPAC system, were retained. After testing for heterogeneity and publication bias, meta-analysis and meta-regression were performed, using a random effects model. Although heterogeneity among studies was high (χ(2 = 164.7, p<0.01, I(2 = 88.5, a positive association between BV and cervical pre-cancerous lesions was found, with an overall estimated odds ratio of 1.51 (95% CI, 1.24-1.83. Meta-regression analysis could not detect a significant difference between studies based on BV diagnosis, CIN diagnosis or study population

  2. The association of Raynaud syndrome with β-blockers: a meta-analysis.

    Science.gov (United States)

    Mohokum, Melvin; Hartmann, Peter; Schlattmann, Peter

    2012-10-01

    Vasospastic disorders of the digital circulation such as the Raynaud syndrome (RS) are known side effects of treatment of β-adrenergic blockade. The prevalence of RS in patients during treatment with β-blockers is not well defined. The objective of this meta-analysis is to assess the prevalence of RS in patients receiving β-blockers. A literature search was performed for studies dealing with RS and patients receiving β-blockers. The studies provided sufficient data to estimate the prevalence of RS in patients receiving β-blockers. A total of 13 eligible studies, contributing data on 1012 individuals, were included in this meta-analysis. For RS in patients receiving β-blockers, a pooled prevalence of 14.7% (95% confidence interval 0.076-0.236) were obtained. Statistically publication bias was not present (P = .877). Despite some heterogeneity, there is a possible indication of an association between RS and patients receiving β-blockers.

  3. The association between brain-derived neurotrophic factor gene polymorphism and migraine: a meta-analysis.

    Science.gov (United States)

    Cai, Xiaoying; Shi, Xiaolei; Zhang, Ximeng; Zhang, Aiwu; Zheng, Minying; Fang, Yannan

    2017-12-01

    Migraine is a recurrent headache disease related to genetic variants. The brain-derived neurotrophic factor (BDNF) gene rs6265 (Val66Met) and rs2049046 polymorphism has been found to be associated with migraine. However, their roles in this disorder are not well established. Then we conduct this meta-analysis to address this issue. PubMed, Web of Science and Cochrane databases were systematically searched to identify all relevant studies. Odds ratio (OR) with corresponding 95% confidence interval (CI) was used to estimate the strength of association between BDNF gene rs6265 and rs2049046 polymorphism and migraine. Four studies with 1598 cases and 1585 controls, fulfilling the inclusion criteria were included in our meta-analysis. Overall data showed significant association between rs6265 polymorphism and migraine in allele model (OR = 0.86, 95%CI: 0.76-0.99, p = 0.03), recessive model (OR = 0.84, 95%CI: 0.72-0.98, p = 0.03) and additive model (GG vs GA: OR = 0.85, 95%CI: 0.72-1.00, p = 0.04), respectively. We also found significant association between rs2049046(A/T) polymorphism and migraine in allele model (OR = 0.88, 95%CI: 0.79-0.98, p = 0.02), recessive model (OR = 0.80, 95%CI: 0.67-0.96, p = 0.02) and additive model (AA vs TT: OR = 0.72, 95%CI: 0.57-0.92, p = 0.008; AA vs AT: OR = 0.81, 95%CI: 0.67-0.99, p = 0.03), respectively. Our meta-analysis suggested that BDNF rs6265 and rs2049046 polymorphism were associated with common migraine in Caucasian population. Further studies are awaited to update this finding in Asian population and other types of migraine.

  4. Patient Characteristics Associated With Quality of Colonoscopy Preparation: A Systematic Review and Meta-analysis.

    Science.gov (United States)

    Gandhi, Kunjal; Tofani, Christina; Sokach, Carly; Patel, Devin; Kastenberg, David; Daskalakis, Constantine

    2018-03-01

    Some features of patients are associated with inadequate bowel preparation, which reduces the effectiveness of colonoscopy examination. We performed a systematic review and meta-analysis of the association between patients' sociodemographic characteristics, health conditions, and medications with inadequate bowel preparation. We searched the PubMed, Scopus, and Cochrane Review databases for randomized controlled trials cohort (prospective and retrospective), case-control, and cross-sectional studies published through March 2016. We collected information on study design, study population, and bowel preparation. For each factor, we obtained the odds ratio (OR) for inadequate bowel preparation. We conducted the meta-analyses using the random-effects approach and investigated any identified heterogeneity and publication bias via graphical methods, stratification, and meta-regression. We performed a meta-analysis of 67 studies, comprising 75,818 patients. The estimated pooled OR for inadequate bowel preparation was small for sociodemographic characteristics: 1.14 for age, and 1.23 for male sex (excluding studies in Asia, which had substantial heterogeneity and publication bias), and 1.49 for low education. The effect of high body mass index differed significantly in studies with mostly female patients (OR, 1.05) vs those with mostly male patients (OR, 1.30) (P = .013 for the difference). ORs for constipation and cirrhosis were heterogeneous; adjusted ORs were larger than unadjusted ORs (1.97 vs 1.29 for constipation and 3.41 vs 1.36 for cirrhosis). Diabetes (OR, 1.79), hypertension (OR, 1.25), stroke or dementia (OR, 2.09), and opioid use (OR, 1.70) were associated with inadequate bowel preparation. History of abdominal surgery (OR, 0.99) did not associate with inadequate bowel preparation. Use of tricyclic antidepressants had a larger effect on risk of inadequate bowel preparation in studies of mostly female patients (OR, 2.62) than studies of mostly male patients (OR

  5. [A survival analysis approach to assess the association between maternal smoking during pregnancy and childhood obesity].

    Science.gov (United States)

    Suzuki, Kohta; Sato, Miri; Ando, Daisuke; Kondo, Naoki; Yamagata, Zentaro

    2012-08-01

    It has been suggested that maternal smoking during pregnancy has an effect on childhood obesity. We previously clarified the association between maternal lifestyle habits practiced during pregnancy, including smoking, and childhood obesity and overweight at 9-10 years of age. In this study, we aimed to demonstrate this association through survival analysis. This study was based on an on-going community-based prospective cohort study initiated in the fetal stage called Project Koshu. The study population comprised of the participants of Project Koshu, who were children born in a rural Japanese area between 1991 and 1999 and their mothers. In this project, maternal smoking status during pregnancy was collected through a questionnaire and childhood anthropometric data were measured at annual medical check-ups from 3 years of age to 9-10 years of age. Using these data, we performed a survival analysis using the Kaplan-Meier method to compare the cumulative rate of childhood obesity and overweight between those with mothers who smoked during pregnancy and those who did not. Subsequently, we calculated the hazard ratio (HR) of the effect of maternal smoking during pregnancy on childhood obesity using the Cox proportional hazard model. In the survival analysis of childhood obesity, we analyzed the data of 1428 children and their mothers (follow-up rate: 87.7%). Of these, 290 children (20.3%) became overweight and 92 children (6.4%) became obese between 3 years of age and 9-10 years of age. This shows that the cumulative rate of childhood obesity was significantly different between mothers with and without smoking habits (P obese between 3 years of age and 9-10 years of age. Maternal smoking during pregnancy was found to be associated with childhood obesity (HR, 2.0; 95% confidence interval (CI): 1.04-4.0). However, there was no significant association between maternal smoking during pregnancy and childhood overweight. Our results suggest that the effect of fetal

  6. Meta-Analysis: Risk of Tics Associated With Psychostimulant Use in Randomized, Placebo-Controlled Trials.

    Science.gov (United States)

    Cohen, Stephanie C; Mulqueen, Jilian M; Ferracioli-Oda, Eduardo; Stuckelman, Zachary D; Coughlin, Catherine G; Leckman, James F; Bloch, Michael H

    2015-09-01

    Clinical practice currently restricts the use of psychostimulant medications in children with tics or a family history of tics for fear that tics will develop or worsen as a side effect of treatment. Our goal was to conduct a meta-analysis to examine the risk of new onset or worsening of tics as an adverse event of psychostimulants in randomized, placebo-controlled trials. We conducted a PubMed search to identify all double-blind, randomized, placebo-controlled trials examining the efficacy of psychostimulant medications in the treatment of children with attention-deficit/hyperactivity disorder (ADHD). We used a fixed effects meta-analysis with risk ratio of new onset or worsening tics in children treated with psychostimulants compared to placebo. We used stratified subgroup analysis and meta-regression to examine the effects of stimulant type, dose, duration of treatment, recorder of side effect data, trial design, and mean age of participants on the measured risk of tics. We identified 22 studies involving 2,385 children with ADHD for inclusion in our meta-analysis. New onset tics or worsening of tic symptoms were commonly reported in the psychostimulant (event rate = 5.7%, 95% CI = 3.7%-8.6%) and placebo groups (event rate = 6.5%, 95% CI = 4.4%-9.5%). The risk of new onset or worsening of tics associated with psychostimulant treatment was similar to that observed with placebo (risk ratio = 0.99, 95% CI = 0.78-1.27, z = -0.05, p = .962). Type of psychostimulant, dose, duration of treatment, recorder, and participant age did not affect risk of new onset or worsening of tics. Crossover studies were associated with a significantly greater measured risk of tics with psychostimulant use compared to parallel group trials. Meta-analysis of controlled trials does not support an association between new onset or worsening of tics and psychostimulant use. Clinicians may want to consider rechallenging children who report new onset or worsening of tics with psychostimulant

  7. Meta-analysis and imputation refines the association of 15q25 with smoking quantity.

    Science.gov (United States)

    Liu, Jason Z; Tozzi, Federica; Waterworth, Dawn M; Pillai, Sreekumar G; Muglia, Pierandrea; Middleton, Lefkos; Berrettini, Wade; Knouff, Christopher W; Yuan, Xin; Waeber, Gérard; Vollenweider, Peter; Preisig, Martin; Wareham, Nicholas J; Zhao, Jing Hua; Loos, Ruth J F; Barroso, Inês; Khaw, Kay-Tee; Grundy, Scott; Barter, Philip; Mahley, Robert; Kesaniemi, Antero; McPherson, Ruth; Vincent, John B; Strauss, John; Kennedy, James L; Farmer, Anne; McGuffin, Peter; Day, Richard; Matthews, Keith; Bakke, Per; Gulsvik, Amund; Lucae, Susanne; Ising, Marcus; Brueckl, Tanja; Horstmann, Sonja; Wichmann, H-Erich; Rawal, Rajesh; Dahmen, Norbert; Lamina, Claudia; Polasek, Ozren; Zgaga, Lina; Huffman, Jennifer; Campbell, Susan; Kooner, Jaspal; Chambers, John C; Burnett, Mary Susan; Devaney, Joseph M; Pichard, Augusto D; Kent, Kenneth M; Satler, Lowell; Lindsay, Joseph M; Waksman, Ron; Epstein, Stephen; Wilson, James F; Wild, Sarah H; Campbell, Harry; Vitart, Veronique; Reilly, Muredach P; Li, Mingyao; Qu, Liming; Wilensky, Robert; Matthai, William; Hakonarson, Hakon H; Rader, Daniel J; Franke, Andre; Wittig, Michael; Schäfer, Arne; Uda, Manuela; Terracciano, Antonio; Xiao, Xiangjun; Busonero, Fabio; Scheet, Paul; Schlessinger, David; St Clair, David; Rujescu, Dan; Abecasis, Gonçalo R; Grabe, Hans Jörgen; Teumer, Alexander; Völzke, Henry; Petersmann, Astrid; John, Ulrich; Rudan, Igor; Hayward, Caroline; Wright, Alan F; Kolcic, Ivana; Wright, Benjamin J; Thompson, John R; Balmforth, Anthony J; Hall, Alistair S; Samani, Nilesh J; Anderson, Carl A; Ahmad, Tariq; Mathew, Christopher G; Parkes, Miles; Satsangi, Jack; Caulfield, Mark; Munroe, Patricia B; Farrall, Martin; Dominiczak, Anna; Worthington, Jane; Thomson, Wendy; Eyre, Steve; Barton, Anne; Mooser, Vincent; Francks, Clyde; Marchini, Jonathan

    2010-05-01

    Smoking is a leading global cause of disease and mortality. We established the Oxford-GlaxoSmithKline study (Ox-GSK) to perform a genome-wide meta-analysis of SNP association with smoking-related behavioral traits. Our final data set included 41,150 individuals drawn from 20 disease, population and control cohorts. Our analysis confirmed an effect on smoking quantity at a locus on 15q25 (P = 9.45 x 10(-19)) that includes CHRNA5, CHRNA3 and CHRNB4, three genes encoding neuronal nicotinic acetylcholine receptor subunits. We used data from the 1000 Genomes project to investigate the region using imputation, which allowed for analysis of virtually all common SNPs in the region and offered a fivefold increase in marker density over HapMap2 (ref. 2) as an imputation reference panel. Our fine-mapping approach identified a SNP showing the highest significance, rs55853698, located within the promoter region of CHRNA5. Conditional analysis also identified a secondary locus (rs6495308) in CHRNA3.

  8. Systematic review and meta-analysis of the association between psoriasis and metabolic syndrome.

    Science.gov (United States)

    Rodríguez-Zúñiga, Milton José Max; García-Perdomo, Herney Andrés

    2017-10-01

    Several studies have shown a relationship between psoriasis and metabolic syndrome (MS), but no meta-analysis has been restricted to studies that adjusted for confounders. To determine the association between psoriasis and MS. A systematic review and meta-analysis of observational studies on psoriasis and MS in adults was performed from MEDLINE, Scopus, SciELO, Google Scholar, Science Direct, and LILACS from inception to January 2016. We performed a random effects model meta-analysis for those studies reporting adjusted odds ratios (ORs) with 95% confidence intervals (CIs). The subgroup analysis was related to geographic location, diagnosis criteria and risk of bias. In all, 14 papers including a total of 25,042 patients with psoriasis were analyzed. We found that MS was present in 31.4% of patients with psoriasis (OR, 1.42; 95% CI, 1.28-1.65). Middle Eastern studies (in Israel, Turkey, and Lebanon) (OR, 1.76, 95% CI, 0.86-2.67) reported a greater risk for MS than European studies (in Germany, Italy, the United Kingdom, Norway, and Denmark) (OR, 1.40; 95% CI, 1.25-1.55). Few adjusted studies existed, and there was inconsistency between publications. Because of the increased risk for MS, clinicians should consider screening patients with psoriasis for metabolic risk factors. Copyright © 2017 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  9. The association between MTHFR polymorphisms and cervical cancer risk: a system review and meta analysis.

    Science.gov (United States)

    Yi, Ke; Yang, LingYun; Lan, Zhu; Xi, MingRong

    2016-09-01

    Methylenetetrahydrofolate reductase (MTHFR) plays an important role in determining the proportions of folate coenzymes for DNA synthesis or DNA methylation. Published data on the association between the MTHFR polymorphisms and cervical risk are controversial. A meta-analysis was performed to assess whether the polymorphisms of MTHFR are associated with cervical cancer risk. Medline, Embase, China National Knowledge Infrastructure and Chinese Biomedicine Databases were searched to identify eligible studies. Pooled odds ratios (ORs) and 95 % confidence intervals (CIs) for MTHFR C677T and MTHFR A1298C polymorphisms and cervical cancer were appropriately derived from fixed-effects or random effects models. Five different ORs were calculated: (1) allele contrast (C vs. T), (2) homozygous comparison (CC vs. TT), (3) heterozygous comparison (CC vs. CT), (4) dominant model (CC vs. CT+TT) and (5) recessive model (CC+CT vs. TT). A total of 13 studies, which included 12 studies for MTHFR C677T (2332 cases and 3000 controls) and five studies for A1298C polymorphisms (677 cases and 1191 controls), were enrolled in this meta-analysis. The pooled analyses revealed that MTHFR C677T polymorphism was not associated with cervical cancer risk; while the A1298C polymorphism had a significant association with increased cervical cancer risk in allele contrast, heterozygote comparison and dominant model (A C, OR = 0.84, 95 % CI = 0.71-0.98; AA vs. CC OR = 0.72, 95 % CI = 0.59-0.89; AA vs. AC+CC, OR = 0.72, 95 % CI = 0.59-0.88). The significant associations between MTHFR A1298C polymorphism and cervical cancer were found among Asians and population-based case-control studies. This study indicated that the MTHFR C677T may be no associated with cervical cancer risk, and yet the MTHFR A1298C polymorphism may be a risk factor for cervical cancer.

  10. Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis

    Directory of Open Access Journals (Sweden)

    Eisman John A

    2008-06-01

    Full Text Available Abstract Background The low-density lipoprotein receptor-related protein 5 gene (LRP5 was identified to be linked to the variation in BMD in high bone mass pedigrees. Subsequent population-based studies of the association between the LRP5 gene and BMD have yielded conflicting results. The present study was aimed at examining the association between LRP5 gene and BMD by using meta-analysis. Methods A systematic electronic search of literature was conducted to identify all published studies in English on the association between LRP5 gene and osteoporosis-related phenotypes, including bone mineral density and fracture. BMD data were summarized from individual studies by LRP5 genotype, and a synthesis of data was performed with random-effects meta-analyses. After excluding studies on animal and review papers, there were 19 studies for the synthesis. Among these studies, 10 studies used the rs3736228 (A1330V polymorphism and reported BMD values. Results The 10 eligible studies comprised 16,705 individuals, with the majority being women (n = 8444, aged between 18 – 81 years. The overall distribution of genotype frequencies was: AA, 68%, AV and VV, 32%. However, the genotype frequency varied significantly within as well as between ethnic populations. On random-effects meta-analysis, lumbar spine BMD among individuals with the AA genotype was on average 0.018 (95% confidence interval [CI]: 0.012 to 0.023 g/cm2 higher than those with either AV or VV genotype. Similarly, femoral neck BMD among carriers of the AA genotype was 0.011 (95%CI: 0.004 to 0.017 g/cm2 higher than those without the genotype. While there was no significant heterogeneity in the association between the A1330V polymorphism and lumbar spine BMD (p = 0.55, the association was heterogeneous for femoral neck BMD (p = 0.05. The probability that the difference is greater than one standard deviation was 0.34 for femoral neck BMD and 0.54 for lumbar spine BMD. Conclusion These results

  11. Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis.

    Science.gov (United States)

    Tran, Bich N H; Nguyen, Nguyen D; Eisman, John A; Nguyen, Tuan V

    2008-06-27

    The low-density lipoprotein receptor-related protein 5 gene (LRP5) was identified to be linked to the variation in BMD in high bone mass pedigrees. Subsequent population-based studies of the association between the LRP5 gene and BMD have yielded conflicting results. The present study was aimed at examining the association between LRP5 gene and BMD by using meta-analysis. A systematic electronic search of literature was conducted to identify all published studies in English on the association between LRP5 gene and osteoporosis-related phenotypes, including bone mineral density and fracture. BMD data were summarized from individual studies by LRP5 genotype, and a synthesis of data was performed with random-effects meta-analyses. After excluding studies on animal and review papers, there were 19 studies for the synthesis. Among these studies, 10 studies used the rs3736228 (A1330V) polymorphism and reported BMD values. The 10 eligible studies comprised 16,705 individuals, with the majority being women (n = 8444), aged between 18 - 81 years. The overall distribution of genotype frequencies was: AA, 68%, AV and VV, 32%. However, the genotype frequency varied significantly within as well as between ethnic populations. On random-effects meta-analysis, lumbar spine BMD among individuals with the AA genotype was on average 0.018 (95% confidence interval [CI]: 0.012 to 0.023) g/cm2 higher than those with either AV or VV genotype. Similarly, femoral neck BMD among carriers of the AA genotype was 0.011 (95%CI: 0.004 to 0.017) g/cm2 higher than those without the genotype. While there was no significant heterogeneity in the association between the A1330V polymorphism and lumbar spine BMD (p = 0.55), the association was heterogeneous for femoral neck BMD (p = 0.05). The probability that the difference is greater than one standard deviation was 0.34 for femoral neck BMD and 0.54 for lumbar spine BMD. These results suggest that there is a modest effect of the A1330V polymorphism on

  12. Assessing causality in the association between child adiposity and physical activity levels: a Mendelian randomization analysis.

    Directory of Open Access Journals (Sweden)

    Rebecca C Richmond

    2014-03-01

    Full Text Available Cross-sectional studies have shown that objectively measured physical activity is associated with childhood adiposity, and a strong inverse dose-response association with body mass index (BMI has been found. However, few studies have explored the extent to which this association reflects reverse causation. We aimed to determine whether childhood adiposity causally influences levels of physical activity using genetic variants reliably associated with adiposity to estimate causal effects.The Avon Longitudinal Study of Parents and Children collected data on objectively assessed activity levels of 4,296 children at age 11 y with recorded BMI and genotypic data. We used 32 established genetic correlates of BMI combined in a weighted allelic score as an instrumental variable for adiposity to estimate the causal effect of adiposity on activity. In observational analysis, a 3.3 kg/m² (one standard deviation higher BMI was associated with 22.3 (95% CI, 17.0, 27.6 movement counts/min less total physical activity (p = 1.6×10⁻¹⁶, 2.6 (2.1, 3.1 min/d less moderate-to-vigorous-intensity activity (p = 3.7×10⁻²⁹, and 3.5 (1.5, 5.5 min/d more sedentary time (p = 5.0×10⁻⁴. In Mendelian randomization analyses, the same difference in BMI was associated with 32.4 (0.9, 63.9 movement counts/min less total physical activity (p = 0.04 (∼5.3% of the mean counts/minute, 2.8 (0.1, 5.5 min/d less moderate-to-vigorous-intensity activity (p = 0.04, and 13.2 (1.3, 25.2 min/d more sedentary time (p = 0.03. There was no strong evidence for a difference between variable estimates from observational estimates. Similar results were obtained using fat mass index. Low power and poor instrumentation of activity limited causal analysis of the influence of physical activity on BMI.Our results suggest that increased adiposity causes a reduction in physical activity in children and support research into the targeting of BMI in efforts to

  13. Association Between Chromosome 9p21 Variants and the Ankle-Brachial Index Identified by a Meta-Analysis of 21 Genome-Wide Association Studies

    DEFF Research Database (Denmark)

    Murabito, Joanne M; White, Charles C; Kavousi, Maryam

    2012-01-01

    meta-analysis, rs10757269 on chromosome 9 near CDKN2B had the strongest association with ABI (ß= -0.006, p=2.46x10(-8)). We sought replication of the 6 strongest SNP associations in 5 population-based studies and 3 clinical samples (n=16,717). The association for rs10757269 strengthened in the combined...... discovery and replication analysis (p=2.65x10(-9)). No other SNP associations for ABI or PAD achieved genome-wide significance. However, two previously reported candidate genes for PAD and one SNP associated with coronary artery disease (CAD) were associated with ABI: DAB21P (rs13290547, p=3.6x10(-5)); CYBA...... (rs3794624, p=6.3x10(-5)); and rs1122608 (LDLR, p=0.0026). CONCLUSIONS: -GWAS in more than 40,000 individuals identified one genome-wide significant association on chromosome 9p21 with ABI. Two candidate genes for PAD and 1 SNP for CAD are associated with ABI....

  14. Study of the association between five polymorphisms and risk of hepatocellular carcinoma: A meta-analysis.

    Science.gov (United States)

    Yu, Jia-Yun; Hu, Fan; Du, Wei; Ma, Xue-Lei; Yuan, Kun

    2017-04-01

    Recently, several studies have investigated the association between polymorphisms in miR-146a rs2910164, miR-196a2 rs11614913, miR-499 rs3746444, miR-149 rs229283, miR-34b/c rs4938723, and hepatocellular carcinoma (HCC), which showed inconclusive results. A publication search was performed in PubMed, ExcerptaMedica Database, Chinese Biomedical Literature Database, and Chinese National Knowledge Infrastructure to collect relevant medical data published through February 2016. The aim of this study was to ascertain the association between HCC and micro-RNAs. A total of 21 studies were included in our study, which showed that miR-146a rs2910164 polymorphism has a significant association with HCC in the allele, recessive, and homozygous models overall [allele model: odds ratio (OR) = 0.927, 95% confidence interval (CI): 0.869-0.988, p = 0.02; recessive model: OR = 0.893, 95% CI: 0.814-0.981, p = 0.018; homozygous model: OR = 0.853, 95% CI: 0.744-0.978, p = 0.023] and in Asian populations (allele model: OR = 0.921, 95% CI: 0.863-0.983, p = 0.014; recessive model: OR = 0.893, 95% CI: 0.814-0.981, p = 0.019; homozygous model: OR = 0.851, 95% CI: 0.741-0.977, p = 0.022). For miR-196a2 rs11614913, significant statistical heterogeneity overall and in Asian populations was identified in the comparison of the allele, recessive, homozygous, and heterozygous models (overall: allele model: OR = 0.889, 95% CI: 0.842-0.94, p risk of HCC in Caucasians in all genetic models except for the heterozygous model (allele model: OR = 0.658, 95% CI: 0.49-0.885, p = 0.006; dominant model: OR = 0.641, 95% CI: 0.418-0.981, p = 0.041; recessive model: OR = 0.489, 95% CI: 0.278-0.862, p = 0.013; homozygous model: OR = 0.414, 95% CI: 0.222-0.772, p = 0.005). Only the recessive models produced a significant association between miR-499 rs3746444 polymorphism and HCC risk (recessive model: OR = 1.283, 95% CI: 1.008-1.632, p = 0.043). The analysis for mi

  15. Inter-group associations in Mongolian gerbils: Quantitative evidence from social network analysis.

    Science.gov (United States)

    Deng, Ke; Liu, Wei; Wang, Dehua

    2017-11-01

    Animals often interact non-randomly with conspecifics, and association preferences can differ across life-history stages to maximize individuals' fitness. Mongolian gerbils (Meriones unguiculatus) are a social rodent that live in highly seasonal habitats and display seasonal fluctuations in population density, growth rate and the size of overlapped home ranges. Nevertheless, whether gerbils modify their social relationships at different life-history stages remains unknown. Here, we used social network analysis to examine whether social associations differ between the sexes and between life-history stages in a wild population of Mongolian gerbils. We quantified social attributes at both group level (assortativity) and individual level (social differentiation and degree, closeness and betweenness centrality); these attributes reflect individuals' social preferences and their potential influence on others in the network. We found that both male and female gerbils established fewer inter-group social connections during the food-hoarding season than during the breeding season, revealing constraints on sociality. Similarly, during the food-hoarding season, degree centrality and social differentiation increased significantly whereas closeness and betweenness centrality decreased significantly. Together, these results suggest that gerbils have relatively more partners and preferred associations and decreased influence over others in the network during the food-hoarding season. In addition, we found no significant difference in any of the social attribute between males and females, but there was a significant interaction effect between sex and season on degree, closeness and betweenness centrality. Our results demonstrate that Mongolian gerbils adjust their association strategies to adapt to the changes of life history. Such adjustments may balance the costs/benefits associated with survival and reproduction. © 2017 The Authors. Integrative Zoology published by

  16. Association of glucose-6-phosphate dehydrogenase deficiency and malaria: a systematic review and meta-analysis

    Science.gov (United States)

    Mbanefo, Evaristus Chibunna; Ahmed, Ali Mahmoud; Titouna, Afaf; Elmaraezy, Ahmed; Trang, Nguyen Thi Huyen; Phuoc Long, Nguyen; Hoang Anh, Nguyen; Diem Nghi, Tran; The Hung, Bui; Van Hieu, Mai; Ky Anh, Nguyen; Huy, Nguyen Tien; Hirayama, Kenji

    2017-01-01

    Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency overlaps with malaria endemicity although it predisposes carriers to hemolysis. This fact supports the protection hypothesis against malaria. The aim of this systematic review is to assess the presence and the extent of protective association between G6PD deficiency and malaria. Thirteen databases were searched for papers reporting any G6PD alteration in malaria patients. Twenty-eight of the included 30 studies were eligible for the meta-analysis. Results showed absence of negative association between G6PD deficiency and uncomplicated falciparum malaria (odds ratio (OR), 0.77; 95% confidence interval (CI), 0.59–1.02; p = 0.07). However, this negative association happened in Africa (OR, 0.59; 95% CI, 0.40–0.86; p = 0.007) but not in Asia (OR, 1.24; 95% CI, 0.96–1.61; p = 0.10), and in the heterozygotes (OR, 0.70; 95% CI, 0.57–0.87; p = 0.001) but not the homo/hemizygous (OR, 0.70; 95% CI, 0.46–1.07; p = 0.10). There was no association between G6PD deficiency and total severe malaria (OR, 0.82; 95% CI, 0.61–1.11; p = 0.20). Similarly, there was no association with other malaria species. G6PD deficiency can potentially protect against uncomplicated malaria in African countries, but not severe malaria. Interestingly, this protection was mainly in heterozygous, being x-linked thus related to gender. PMID:28382932

  17. Association between constipation and colorectal cancer: systematic review and meta-analysis of observational studies.

    Science.gov (United States)

    Power, Andrew M; Talley, Nicholas J; Ford, Alexander C

    2013-06-01

    Constipation is common in the community, and may affect survival adversely. An association between constipation and development of colorectal cancer (CRC) could be one possible explanation. We performed a systematic review and meta-analysis examining this issue. We searched MEDLINE, EMBASE, and EMBASE Classic (through July 2012). Eligible studies were cross-sectional surveys, cohort studies, or case-control studies reporting the association between constipation and CRC. For cross-sectional surveys and cohort studies, we recorded number of subjects with CRC according to the constipation status, and for case-control studies, number of subjects with constipation according to CRC status were recorded. Study quality was assessed according to published criteria. Data were pooled using a random effects model, and the association between CRC and constipation was summarized using an odds ratio (OR) with a 95% confidence interval (CI). The search strategy identified 2,282 citations, of which 28 were eligible. In eight cross-sectional surveys, presence of constipation as the primary indication for colonoscopy was associated with a lower prevalence of CRC (OR=0.56; 95% CI 0.36-0.89). There was a trend toward a reduction in odds of CRC in constipation in three cohort studies (OR=0.80; 95% CI 0.61-1.04). The prevalence of constipation in CRC was significantly higher than in controls without CRC in 17 case-control studies (OR=1.68; 95% CI 1.29-2.18), but with significant heterogeneity, and possible publication bias. Prospective cross-sectional surveys and cohort studies demonstrate no increase in prevalence of CRC in patients or individuals with constipation. The significant association observed in case-control studies may relate to recall bias.

  18. Disentangling the Association Between Child Abuse and Eating Disorders: A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Caslini, Manuela; Bartoli, Francesco; Crocamo, Cristina; Dakanalis, Antonios; Clerici, Massimo; Carrà, Giuseppe

    2016-01-01

    The aim of this systematic review and meta-analysis was to estimate the association between distinct types of child abuse--sexual (CSA), physical (CPA), and emotional (CEA)--and different eating disorders (EDs). Electronic databases were searched through January 2014. Studies reporting rates of CSA, CPA, and CEA in people with anorexia nervosa (AN), bulimia nervosa (BN), and binge eating disorder (BED), as compared with individuals without EDs, were included. Pooled analyses were based on odds ratios (ORs), with relevant 95% confidence intervals (CIs), weighting each study with inverse variance models with random effects. Risk of publication bias was estimated. Thirty-two of 1714 studies assessed for eligibility met the inclusion criteria, involving more than 14,000 individuals. The association between EDs and any child abuse showed a random-effects pooled OR of 3.21 (95% CI = 2.29-4.51, p < .001) with moderate heterogeneity (I2 = 57.2%, p = .005), whereas for CSA, this was 1.92 (95% CI = 1.13-3.28, p = .017), 2.73 (95% CI = 1.96-3.79, p < .001), and 2.31 (95% CI = 1.66-3.20, p < .001), for AN, BN, and BED, respectively. However, adjusting for publication bias, the estimate for CSA and AN was not significant (OR = 1.06, 95% CI = 0.59-1.88, p = .85). Although CPA was associated with AN, BN, and BED, CEA was associated just with BN and BED. BN and BED are associated with childhood abuse, whereas AN shows mixed results. Individuals with similar trauma should be monitored for early recognition of EDs. The protocol was registered in PROSPERO (an international prospective register of systematic reviews) with the reference number CRD42014007360.

  19. Fat mass by bioelectrical impedance analysis is not associated with increased risk of Barrett esophagus.

    Science.gov (United States)

    Thrift, Aaron P; Kramer, Jennifer R; Alsarraj, Abeer; El-Serag, Hashem B

    2014-03-01

    To evaluate whether the association between obesity and Barrett esophagus (BE) is due to total body fatness, abdominal obesity, or both. BE risk seems to be more strongly related to central obesity than total obesity. However, no studies have investigated the association between total obesity and BE using direct measures of total body fatness. We conducted a case-control study among patients scheduled for elective esophagogastroduodenoscopy, and a sample of patients eligible for screening colonoscopy recruited from primary care clinics. BE cases were patients with specialized intestinal metaplasia, whereas controls had no endoscopic or histopathologic BE. All patients underwent a study esophagogastroduodenoscopy and had body measurements taken. Fat mass and fat-free mass were estimated from bioelectrical impedance analysis (BIA). We calculated odds ratios (OR) and 95% confidence intervals (95% CI) using multivariable logistic regression. There were 70 BE cases, 229 endoscopy controls, and 118 primary care controls. BMI and BIA-derived fat mass were highly correlated; however, we found no association between BMI, fat mass, and BE (vs. all controls: BMI, OR/1 SD=1.01; 95% CI, 0.76-1.34; fat mass, OR=1.02; 95% CI, 0.77-1.36). Waist-to-hip ratio was significantly associated with increased BE risk (vs. all controls: OR/1 SD=1.45; 95% CI, 1.03-2.04). We found similar results when we analyzed the control groups separately. Waist-to-hip ratio, but not fat mass or BMI, was associated with increased BE risk. This study provides strong evidence that BE is related to body size and composition through central adiposity and not through total body fatness.

  20. Fat mass by bioelectrical impedance analysis is not associated with increased risk of Barrett's esophagus

    Science.gov (United States)

    Thrift, Aaron P.; Kramer, Jennifer R.; Alsarraj, Abeer; El-Serag, Hashem B.

    2013-01-01

    Goal To evaluate whether the association between obesity and Barrett's esophagus (BE) is due to total body fatness, abdominal obesity, or both. Background BE risk appears more strongly related to central obesity than total obesity. However, no studies have investigated the association between total obesity and BE using direct measures of total body fatness. Study We conducted a case-control study among patients scheduled for elective esophagogastroduodenoscopy (EGD), and a sample of patients eligible for screening colonoscopy recruited from primary care clinics. BE cases were patients with specialized intestinal metaplasia; while controls had no endoscopic or histopathologic BE. All patients underwent a study EGD and had body measurements taken. Fat mass and fat-free mass were estimated from bioelectrical impedance analysis (BIA). We calculated odds ratios (OR) and 95% confidence intervals (95%CI) using multivariable logistic regression. Results There were 70 BO cases, 229 endoscopy controls and 118 primary care controls. BMI and BIA derived fat mass were highly correlated; however we found no association between BMI, fat mass and BE (vs. all controls: BMI, OR per 1 standard deviation [s.d.] = 1.01, 95%CI 0.76–1.34; fat mass, OR=1.02, 95%CI 0.77–1.36). WHR was significantly associated with increased BE risk (vs. all controls: OR=1.45, 95%CI 1.03–2.04). We found similar results when we analyzed the control groups separately. Conclusion WHR, but not fat mass or BMI, was associated with increased BE risk. This study provides strong evidence that BE is related to body size and composition via central adiposity and not via total body fatness. PMID:23842216

  1. Which environmental factors are associated with lived health when controlling for biological health? - a multilevel analysis.

    Science.gov (United States)

    Bostan, Cristina; Oberhauser, Cornelia; Stucki, Gerold; Bickenbach, Jerome; Cieza, Alarcos

    2015-05-27

    Lived health and biological health are two different perspectives of health introduced by the International Classification of Functioning, Disability and Health (ICF). Since in the concept of lived health the impact of the environment on biological health is inherently included, it seems intuitive that when identifying the environmental determinants of health, lived health is the appropriate outcome. The Multilevel Item Response Theory (MLIRT) model has proven to be a successful method when dealing with the relation between a latent variable and observed variables. The objective of this