Performance of gout definitions for genetic epidemiological studies: analysis of UK Biobank.

Science.gov (United States)

Cadzow, Murray; Merriman, Tony R; Dalbeth, Nicola

2017-08-09

Many different combinations of available data have been used to identify gout cases in large genetic studies. The aim of this study was to determine the performance of case definitions of gout using the limited items available in multipurpose cohorts for population-based genetic studies. This research was conducted using the UK Biobank Resource. Data, including genome-wide genotypes, were available for 105,421 European participants aged 40-69 years without kidney disease. Gout definitions and combinations of these definitions were identified from previous epidemiological studies. These definitions were tested for association with 30 urate-associated single-nucleotide polymorphisms (SNPs) by logistic regression, adjusted for age, sex, waist circumference, and ratio of waist circumference to height. Heritability estimates under an additive model were generated using GCTA version 1.26.0 and PLINK version 1.90b3.32 by partitioning the genome. There were 2066 (1.96%) cases defined by self-report of gout, 1652 (1.57%) defined by urate-lowering therapy (ULT) use, 382 (0.36%) defined by hospital diagnosis, 1861 (1.76%) defined by hospital diagnosis or gout-specific medications and 2295 (2.18%) defined by self-report of gout or ULT use. Association with gout at experiment-wide significance (P genetic epidemiological studies of gout.

The High-Density Lipoprotein Puzzle: Why Classic Epidemiology, Genetic Epidemiology, and Clinical Trials Conflict?

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Rosenson, Robert S

2016-05-01

Classical epidemiology has established the incremental contribution of the high-density lipoprotein (HDL) cholesterol measure in the assessment of atherosclerotic cardiovascular disease risk; yet, genetic epidemiology does not support a causal relationship between HDL cholesterol and the future risk of myocardial infarction. Therapeutic interventions directed toward cholesterol loading of the HDL particle have been based on epidemiological studies that have established HDL cholesterol as a biomarker of atherosclerotic cardiovascular risk. However, therapeutic interventions such as niacin, cholesteryl ester transfer protein inhibitors increase HDL cholesterol in patients treated with statins, but have repeatedly failed to reduce cardiovascular events. Statin therapy interferes with ATP-binding cassette transporter-mediated macrophage cholesterol efflux via miR33 and thus may diminish certain HDL functional properties. Unraveling the HDL puzzle will require continued technical advances in the characterization and quantification of multiple HDL subclasses and their functional properties. Key mechanistic criteria for clinical outcomes trials with HDL-based therapies include formation of HDL subclasses that improve the efficiency of macrophage cholesterol efflux and compositional changes in the proteome and lipidome of the HDL particle that are associated with improved antioxidant and anti-inflammatory properties. These measures require validation in genetic studies and clinical trials of HDL-based therapies on the background of statins. © 2016 American Heart Association, Inc.

Molecular and genetic epidemiology of cancer in low- and medium-income countries.

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Malhotra, Jyoti

2014-01-01

Genetic and molecular factors can play an important role in an individual's cancer susceptibility and response to carcinogen exposure. Cancer susceptibility and response to carcinogen exposure can be either through inheritance of high penetrance but rare germline mutations that constitute heritable cancer syndromes, or it can be inherited as common genetic variations or polymorphisms that are associated with low to moderate risk for development of cancer. These polymorphisms can interact with environmental exposures and can influence an individual's cancer risk through multiple pathways, including affecting the rate of metabolism of carcinogens or the immune response to these toxins. Thus, these genetic polymorphisms can account for some of the geographical differences seen in cancer prevalence between different populations. This review explores the role of molecular epidemiology in the field of cancer prevention and control in low- and medium-income countries. Using data from Human Genome Project and HapMap Project, genome-wide association studies have been able to identify multiple susceptibility loci for different cancers. The field of genetic and molecular epidemiology has been further revolutionized by the discovery of newer, faster, and more efficient DNA-sequencing technologies including next-generation sequencing. The new DNA-sequencing technologies can play an important role in planning and implementation of cancer prevention and screening strategies. More research is needed in this area, especially in investigating new biomarkers and measuring gene-environment interactions. Copyright © 2014 Icahn School of Medicine at Mount Sinai. Published by Elsevier Inc. All rights reserved.

Human Genome Epidemiology : A scientific foundation for using genetic information to improve health and prevent disease

Directory of Open Access Journals (Sweden)

Stefania Boccia

2005-03-01

Full Text Available

Human health is determined by the interplay of genetic factors and the environment. In this context the recent advances in human genomics are expected to play a central role in medicine and public health by providing genetic information for disease prediction and prevention.

After the completion of the human genome sequencing, a fundamental step will be represented by the translation of these discoveries into meaningful actions to improve health and prevent diseases, and the field of epidemiology plays a central role in this effort. These are some of the issues addressed by Human Genome Epidemiology –A scientific foundation for using genetic information to improve health and prevent disease, a volume edited by Prof. M. Khoury, Prof. J. Little, Prof.W. Burke and published by Oxford university Press 2004.

This book describes the important role that epidemiological methods play in the continuum from gene discovery to the development and application of genetic tests. The Authors calls this continuum human genome epidemiology (HuGE to denote an evolving field of inquiry that uses systematic applications of epidemiological methods to assess the impact of human genetic variation on health and disease.

The book is divided into four sections and it is structured to allow readers to proceed systematically from the fundamentals of genome technology and discovery, to the epidemiological approaches, to gene characterisation, to the evaluation of genetic tests and their use in health services and public health.

Epidemiology & Genomics Research Program

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The Epidemiology and Genomics Research Program, in the National Cancer Institute's Division of Cancer Control and Population Sciences, funds research in human populations to understand the determinants of cancer occurrence and outcomes.

Integrating the landscape epidemiology and genetics of RNA viruses: rabies in domestic dogs as a model.

Science.gov (United States)

Brunker, K; Hampson, K; Horton, D L; Biek, R

2012-12-01

Landscape epidemiology and landscape genetics combine advances in molecular techniques, spatial analyses and epidemiological models to generate a more real-world understanding of infectious disease dynamics and provide powerful new tools for the study of RNA viruses. Using dog rabies as a model we have identified how key questions regarding viral spread and persistence can be addressed using a combination of these techniques. In contrast to wildlife rabies, investigations into the landscape epidemiology of domestic dog rabies requires more detailed assessment of the role of humans in disease spread, including the incorporation of anthropogenic landscape features, human movements and socio-cultural factors into spatial models. In particular, identifying and quantifying the influence of anthropogenic features on pathogen spread and measuring the permeability of dispersal barriers are important considerations for planning control strategies, and may differ according to cultural, social and geographical variation across countries or continents. Challenges for dog rabies research include the development of metapopulation models and transmission networks using genetic information to uncover potential source/sink dynamics and identify the main routes of viral dissemination. Information generated from a landscape genetics approach will facilitate spatially strategic control programmes that accommodate for heterogeneities in the landscape and therefore utilise resources in the most cost-effective way. This can include the efficient placement of vaccine barriers, surveillance points and adaptive management for large-scale control programmes.

About the Epidemiology and Genomics Research Program

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Epidemiology is the scientific study of the causes and distribution of disease in populations. NCI-funded epidemiology research is conducted through research at institutions in the United States and internationally.

Genetic epidemiology of Down syndrome in Iran

OpenAIRE

Manoochehr Shariati

2005-01-01

Down syndrome is the most common autosomal abnormality and occurs in approximately 1 per 700 live births. Down syndrome accounts for about one third of all moderate and sever mental handicaps in school-aged children. To reveal genetic epidemiology of Down syndrome, 545 karyotypes of referred cases to the author were evaluated. The frequencies of three cytogenetic variants of Down syndrome were trisomy 21 (77.5%), mosaicism (18%) and chromosomal translocation (4.5%). Male to female ratio was 1...

Genomic Resources for Cancer Epidemiology

Science.gov (United States)

This page provides links to research resources, complied by the Epidemiology and Genomics Research Program, that may be of interest to genetic epidemiologists conducting cancer research, but is not exhaustive.

Comparative review of human and canine osteosarcoma: morphology, epidemiology, prognosis, treatment and genetics.

Science.gov (United States)

Simpson, Siobhan; Dunning, Mark David; de Brot, Simone; Grau-Roma, Llorenç; Mongan, Nigel Patrick; Rutland, Catrin Sian

2017-10-24

Osteosarcoma (OSA) is a rare cancer in people. However OSA incidence rates in dogs are 27 times higher than in people. Prognosis in both species is relatively poor, with 5 year OSA survival rates in people not having improved in decades. For dogs, 1 year survival rates are only around ~ 45%. Improved and novel treatment regimens are urgently required to improve survival in both humans and dogs with OSA. Utilising information from genetic studies could assist in this in both species, with the higher incidence rates in dogs contributing to the dog population being a good model of human disease. This review compares the clinical characteristics, gross morphology and histopathology, aetiology, epidemiology, and genetics of canine and human OSA. Finally, the current position of canine OSA genetic research is discussed and areas for additional work within the canine population are identified.

Research Methods in Healthcare Epidemiology: Survey and Qualitative Research.

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Safdar, Nasia; Abbo, Lilian M; Knobloch, Mary Jo; Seo, Susan K

2016-11-01

Surveys are one of the most frequently employed study designs in healthcare epidemiology research. Generally easier to undertake and less costly than many other study designs, surveys can be invaluable to gain insights into opinions and practices in large samples and may be descriptive and/or be used to test associations. In this context, qualitative research methods may complement this study design either at the survey development phase and/or at the interpretation/extension of results stage. This methods article focuses on key considerations for designing and deploying surveys in healthcare epidemiology and antibiotic stewardship, including identification of whether or not de novo survey development is necessary, ways to optimally lay out and display a survey, denominator measurement, discussion of biases to keep in mind particularly in research using surveys, and the role of qualitative research methods to complement surveys. We review examples of surveys in healthcare epidemiology and antimicrobial stewardship and review the pros and cons of methods used. A checklist is provided to help aid design and deployment of surveys in healthcare epidemiology and antimicrobial stewardship. Infect Control Hosp Epidemiol 2016;1-6.

Local literature bias in genetic epidemiology: an empirical evaluation of the Chinese literature.

Directory of Open Access Journals (Sweden)

Zhenglun Pan

2005-12-01

Full Text Available BACKGROUND: Postulated epidemiological associations are subject to several biases. We evaluated whether the Chinese literature on human genome epidemiology may offer insights on the operation of selective reporting and language biases. METHODS AND FINDINGS: We targeted 13 gene-disease associations, each already assessed by meta-analyses, including at least 15 non-Chinese studies. We searched the Chinese Journal Full-Text Database for additional Chinese studies on the same topics. We identified 161 Chinese studies on 12 of these gene-disease associations; only 20 were PubMed-indexed (seven English full-text. Many studies (14-35 per topic were available for six topics, covering diseases common in China. With one exception, the first Chinese study appeared with a time lag (2-21 y after the first non-Chinese study on the topic. Chinese studies showed significantly more prominent genetic effects than non-Chinese studies, and 48% were statistically significant per se, despite their smaller sample size (median sample size 146 versus 268, p < 0.001. The largest genetic effects were often seen in PubMed-indexed Chinese studies (65% statistically significant per se. Non-Chinese studies of Asian-descent populations (27% significant per se also tended to show somewhat more prominent genetic effects than studies of non-Asian descent (17% significant per se. CONCLUSION: Our data provide evidence for the interplay of selective reporting and language biases in human genome epidemiology. These biases may not be limited to the Chinese literature and point to the need for a global, transparent, comprehensive outlook in molecular population genetics and epidemiologic studies in general.

A complex scenario of tuberculosis transmission is revealed through genetic and epidemiological surveys in Porto.

Science.gov (United States)

Rito, Teresa; Matos, Carlos; Carvalho, Carlos; Machado, Henrique; Rodrigues, Gabriela; Oliveira, Olena; Ferreira, Eduarda; Gonçalves, Jorge; Maio, Lurdes; Morais, Clara; Ramos, Helena; Guimarães, João Tiago; Santos, Catarina L; Duarte, Raquel; Correia-Neves, Margarida

2018-01-25

Tuberculosis (TB) incidence is decreasing worldwide and eradication is becoming plausible. In low-incidence countries, intervention on migrant populations is considered one of the most important strategies for elimination. However, such measures are inappropriate in European areas where TB is largely endemic, such as Porto in Portugal. We aim to understand transmission chains in Porto through a genetic characterization of Mycobacterium tuberculosis strains and through a detailed epidemiological evaluation of cases. We genotyped the M. tuberculosis strains using the MIRU-VNTR system. We performed an evolutionary reconstruction of the genotypes with median networks, used in this context for the first time. TB cases from a period of two years were evaluated combining genetic, epidemiological and georeferencing information. The data reveal a unique complex scenario in Porto where the autochthonous population acts as a genetic reservoir of M. tuberculosis diversity with discreet episodes of transmission, mostly undetected using classical epidemiology alone. Although control policies have been successful in decreasing incidence in Porto, the discerned complexity suggests that, for elimination to be a realistic goal, strategies need to be adjusted and coupled with a continuous genetic characterization of strains and detailed epidemiological evaluation, in order to successfully identify and interrupt transmission chains.

Epidemiology and the Tobacco Epidemic: How Research on Tobacco and Health Shaped Epidemiology.

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Samet, Jonathan M

2016-03-01

In this article, I provide a perspective on the tobacco epidemic and epidemiology, describing the impact of the tobacco-caused disease epidemic on the field of epidemiology. Although there is an enormous body of epidemiologic evidence on the associations of smoking with health, little systematic attention has been given to how decades of research have affected epidemiology and its practice. I address the many advances that resulted from epidemiologic research on smoking and health, such as demonstration of the utility of observational designs and important parameters (the odds ratio and the population attributable risk), guidelines for causal inference, and systematic review approaches. I also cover unintended and adverse consequences for the field, including the strategy of doubt creation and the recruitment of epidemiologists by the tobacco industry to serve its mission. The paradigm of evidence-based action for addressing noncommunicable diseases began with the need to address the epidemic of tobacco-caused disease, an imperative for action documented by epidemiologic research. © The Author 2016. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Development and application of Human Genome Epidemiology

Science.gov (United States)

Xu, Jingwen

2017-12-01

Epidemiology is a science that studies distribution of diseases and health in population and its influencing factors, it also studies how to prevent and cure disease and promote health strategies and measures. Epidemiology has developed rapidly in recent years and it is an intercross subject with various other disciplines to form a series of branch disciplines such as Genetic epidemiology, molecular epidemiology, drug epidemiology and tumor epidemiology. With the implementation and completion of Human Genome Project (HGP), Human Genome Epidemiology (HuGE) has emerged at this historic moment. In this review, the development of Human Genome Epidemiology, research content, the construction and structure of relevant network, research standards, as well as the existing results and problems are briefly outlined.

A Review of Epidemiological Research on Adverse Neurological Effects of Exposure to Ambient Air Pollution

Science.gov (United States)

Xu, Xiaohui; Ha, Sandie Uyen; Basnet, Rakshya

2016-01-01

There is a growing body of epidemiological research reporting the neurological effects of ambient air pollution. We examined current evidence, identified the strengths and weaknesses of published epidemiological studies, and suggest future directions for research in this area. Studies were identified through a systematic search of online scientific databases, in addition to a manual search of the reference lists from the identified papers. Despite being a relatively new area of investigation, overall, there is mounting evidence implicating adverse effects of air pollution on neurobehavioral function in both adults and children. Further research is needed to expand our understanding of these relationships, including improvement in the accuracy of exposure assessments; focusing on specific toxicants and their relationships to specific health endpoints, such as neurodevelopmental disorders and neurodegenerative diseases; investigating the combined neurological effects of multiple air pollutants; and further exploration of genetic susceptibility for neurotoxicity of air pollution. In order to achieve these goals collaborative efforts are needed from multidisciplinary teams, including experts in toxicology, biostatistics, geographical science, epidemiology, and neurology. PMID:27547751

Significance of epidemiological studies for estimating the genetic radiation hazards of man

International Nuclear Information System (INIS)

Stephan, G.

1982-01-01

Following a brief presentation of the fundamentals of epidemiological studies, the problems associated with such studies are discussed. Epidemiological investigations on survivors of the atomic bomb explosions in Hiroshima and Nagasaki and also on the population of Kerala, a state in south west India with a high natural radiation load, are then discussed. Consideration was given to the question whether the Down-Syndrom is a valid indicator for proving a causal relationship between radiation dose and genetic effects. (MG) [de

Genetic epidemiology of hypertension: an update on the African diaspora.

Science.gov (United States)

Daniel, Harold I; Rotimi, Charles N

2003-01-01

Hypertension is a serious global public health problem, affecting approximately 600 million people worldwide. The lifetime risk of developing the condition exceeds 50% in most populations. Despite considerable success in the pharmacological treatment of hypertension in all-human populations, the health-care community still lacks understanding of how and why individuals develop chronically elevated blood pressure. This gap in knowledge, and the high prevalence of hypertension and associated complications in some populations of African descent, have led some to conclude that hypertension is a "different disease" in people of African descent. Despite considerable evidence from epidemiologic studies showing that blood pressure distribution in populations of the African diaspora spans the known spectrum for all human populations, theories in support of unique "defects" among populations of African descent continue to gain wide acceptance. To date, no known environmental factors or genetic variants relevant to the pathophysiology of human hypertension have been found to be unique to Black populations. However, available genetic epidemiologic data demonstrate differential distributions of risk factors that are consistent with current environmental and geographic origins. This review summarizes the available evidence and demonstrates that as the exposure to known risk factors for hypertension (eg, excess consumption of salt and calories, stress, sedentary lifestyle, and degree of urbanization) increases among genetically susceptible individuals, the prevalence of hypertension and associated complications also increases across populations of the African diaspora. This observation is true for all human populations.

A Genetic Epidemiological Mega Analysis of Smoking Initiation in Adolescents.

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Maes, Hermine H; Prom-Wormley, Elizabeth; Eaves, Lindon J; Rhee, Soo Hyun; Hewitt, John K; Young, Susan; Corley, Robin; McGue, Matt; Iacono, William G; Legrand, Lisa; Samek, Diana R; Murrelle, E Lenn; Silberg, Judy L; Miles, Donna R; Schieken, Richard M; Beunen, Gaston P; Thomis, Martine; Rose, Richard J; Dick, Danielle M; Boomsma, Dorret I; Bartels, Meike; Vink, Jacqueline M; Lichtenstein, Paul; White, Victoria; Kaprio, Jaakko; Neale, Michael C

2017-04-01

Previous studies in adolescents were not adequately powered to accurately disentangle genetic and environmental influences on smoking initiation (SI) across adolescence. Mega-analysis of pooled genetically informative data on SI was performed, with structural equation modeling, to test equality of prevalence and correlations across cultural backgrounds, and to estimate the significance and effect size of genetic and environmental effects according to the classical twin study, in adolescent male and female twins from same-sex and opposite-sex twin pairs (N = 19 313 pairs) between ages 10 and 19, with 76 358 longitudinal assessments between 1983 and 2007, from 11 population-based twin samples from the United States, Europe, and Australia. Although prevalences differed between samples, twin correlations did not, suggesting similar etiology of SI across developed countries. The estimate of additive genetic contributions to liability of SI increased from approximately 15% to 45% from ages 13 to 19. Correspondingly, shared environmental factors accounted for a substantial proportion of variance in liability to SI at age 13 (70%) and gradually less by age 19 (40%). Both additive genetic and shared environmental factors significantly contribute to variance in SI throughout adolescence. The present study, the largest genetic epidemiological study on SI to date, found consistent results across 11 studies for the etiology of SI. Environmental factors, especially those shared by siblings in a family, primarily influence SI variance in early adolescence, while an increasing role of genetic factors is seen at later ages, which has important implications for prevention strategies. This is the first study to find evidence of genetic factors in liability to SI at ages as young as 12. It also shows the strongest evidence to date for decay of effects of the shared environment from early adolescence to young adulthood. We found remarkable consistency of twin correlations across

Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

DEFF Research Database (Denmark)

Lu, Yi; Cuellar-Partida, Gabriel; Painter, Jodie N

2015-01-01

Epidemiological studies have demonstrated associations between endometriosis and certain histotypes of ovarian cancer, including clear cell, low-grade serous and endometrioid carcinomas. We aimed to determine whether the observed associations might be due to shared genetic aetiology. To address...... this, we used two endometriosis datasets genotyped on common arrays with full-genome coverage (3194 cases and 7060 controls) and a large ovarian cancer dataset genotyped on the customized Illumina Infinium iSelect (iCOGS) arrays (10 065 cases and 21 663 controls). Previous work has suggested...... that a large number of genetic variants contribute to endometriosis and ovarian cancer (all histotypes combined) susceptibility. Here, using the iCOGS data, we confirmed polygenic architecture for most histotypes of ovarian cancer. This led us to evaluate if the polygenic effects are shared across diseases. We...

Cannabis Beyond Good and Evil. How genetic and epidemiological factors shape the relationship between cannabis and psychosis

NARCIS (Netherlands)

Schubart, C.D.

2013-01-01

The studies presented in this thesis aimed to identify genetic and non-genetic (epidemiological) factors that shape the association between cannabis use and psychosis. We showed that the age of first use of cannabis is a determinant for the strength of the association between cannabis use and

Translational Epidemiology in Psychiatry

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Weissman, Myrna M.; Brown, Alan S.; Talati, Ardesheer

2012-01-01

Translational research generally refers to the application of knowledge generated by advances in basic sciences research translated into new approaches for diagnosis, prevention, and treatment of disease. This direction is called bench-to-bedside. Psychiatry has similarly emphasized the basic sciences as the starting point of translational research. This article introduces the term translational epidemiology for psychiatry research as a bidirectional concept in which the knowledge generated from the bedside or the population can also be translated to the benches of laboratory science. Epidemiologic studies are primarily observational but can generate representative samples, novel designs, and hypotheses that can be translated into more tractable experimental approaches in the clinical and basic sciences. This bedside-to-bench concept has not been explicated in psychiatry, although there are an increasing number of examples in the research literature. This article describes selected epidemiologic designs, providing examples and opportunities for translational research from community surveys and prospective, birth cohort, and family-based designs. Rapid developments in informatics, emphases on large sample collection for genetic and biomarker studies, and interest in personalized medicine—which requires information on relative and absolute risk factors—make this topic timely. The approach described has implications for providing fresh metaphors to communicate complex issues in interdisciplinary collaborations and for training in epidemiology and other sciences in psychiatry. PMID:21646577

Molecular epidemiology and evolutionary genetics of Mycobacterium tuberculosis in Taipei

OpenAIRE

Su Ih-Jen; Lee Shi-Yi; Tsai Wen-Shing; Sun Jun-Ren; Chang Jia-Ru; Lin Chih-Wei; Tseng Fan-Chen; Dou Horng-Yunn; Lu Jang-Jih

2008-01-01

Abstract Background The control of tuberculosis in densely populated cities is complicated by close human-to-human contacts and potential transmission of pathogens from multiple sources. We conducted a molecular epidemiologic analysis of 356 Mycobacterium tuberculosis (MTB) isolates from patients presenting pulmonary tuberculosis in metropolitan Taipei. Classical antibiogram studies and genetic characterization, using mycobacterial interspersed repetitive-unit-variable-number tandem-repeat (M...

Epidemiologic research programs at the Department of Energy: Looking to the future

International Nuclear Information System (INIS)

1994-01-01

The secretary of the Department of Energy (DOE) asked the National Research Council in 1989 to establish a Committee on Radiation Epidemiological Research Programs to provide scientific advice on the current status and future direction of DOE's epidemiologic research program. This report is in response to a request from the National Research Council committee to provide advice regarding the future directions of OEHS's epidemiologic research. This report begins with some of the background leading to the current activities of OEHS. In 1990, a committee (the Secretarial Panel for the Evaluation of Epidemiological Research Activities, or SPEERA) established by the secretary of the DOE recommended that DOE enter into a memorandum of understanding (MoU) with the Department of Health and Human Services that outlined the responsibilities of the two departments regarding epidemiologic research. The present report points out that the implementation of the SPEERA recommendations and the MoU by DOE have raised issues that have not been satisfactorily resolved

Causal models in epidemiology: past inheritance and genetic future

Directory of Open Access Journals (Sweden)

Kriebel David

2006-07-01

Full Text Available Abstract The eruption of genetic research presents a tremendous opportunity to epidemiologists to improve our ability to identify causes of ill health. Epidemiologists have enthusiastically embraced the new tools of genomics and proteomics to investigate gene-environment interactions. We argue that neither the full import nor limitations of such studies can be appreciated without clarifying underlying theoretical models of interaction, etiologic fraction, and the fundamental concept of causality. We therefore explore different models of causality in the epidemiology of disease arising out of genes, environments, and the interplay between environments and genes. We begin from Rothman's "pie" model of necessary and sufficient causes, and then discuss newer approaches, which provide additional insights into multifactorial causal processes. These include directed acyclic graphs and structural equation models. Caution is urged in the application of two essential and closely related concepts found in many studies: interaction (effect modification and the etiologic or attributable fraction. We review these concepts and present four important limitations. 1. Interaction is a fundamental characteristic of any causal process involving a series of probabilistic steps, and not a second-order phenomenon identified after first accounting for "main effects". 2. Standard methods of assessing interaction do not adequately consider the life course, and the temporal dynamics through which an individual's sufficient cause is completed. Different individuals may be at different stages of development along the path to disease, but this is not usually measurable. Thus, for example, acquired susceptibility in children can be an important source of variation. 3. A distinction must be made between individual-based and population-level models. Most epidemiologic discussions of causality fail to make this distinction. 4. At the population level, there is additional

Uses of the Twins UK genetic database.

Science.gov (United States)

Spector, Tim D

2007-11-01

Tim Spector is a Professor of Genetic Epidemiology at King's College London and Director of the Twin Research and Genetic Epidemiology Unit at St Thomas' Hospital, London. Professor Spector graduated from St Bartholomew's Hospital Medical School, London, in 1982. After working in General Medicine, he completed a MSc in Epidemiology, and his MD degree at the University of London in 1989. He founded the UK Twins Registry of 10,000 twins in 1993, which is one of the largest collections of genotype and phenotype information on twins worldwide, whose breadth of research has expanded to cover a wide range of common complex traits many of which were previously thought to be mainly due to aging and the environment. He has published over 350 research articles on common diseases. He has written several original articles on the genetics of a wide range of diseases and traits including back pain, acne, inflammation, obesity, memory, musical ability and sexuality. He is the principal investigator of the EU Euroclot and Treat OA study, and a partner in five others. He has written several books, focusing on osteoporosis and genetics and, in 2003, he published a popular book on genetics: Your Genes Unzipped.

Clinical Epidemiology Unit - overview of research areas

Science.gov (United States)

Clinical Epidemiology Unit (CEU) conducts etiologic research with potential clinical and public health applications, and leads studies evaluating population-based early detection and cancer prevention strategies

Aetiology of Depression: Insights from epidemiological and genetic research

NARCIS (Netherlands)

O. Story-Jovanova (Olivera)

2018-01-01

markdownabstractThis thesis includes several population-based studies that explore the aetiology of depression, with a specific interest on biological factors, genetics and epigenetics, and physical health factors for depression. Unravelling the aetiology of depression could potentially answer some

Combining epidemiological and genetic networks signifies the importance of early treatment in HIV-1 transmission.

Science.gov (United States)

Zarrabi, Narges; Prosperi, Mattia; Belleman, Robert G; Colafigli, Manuela; De Luca, Andrea; Sloot, Peter M A

2012-01-01

Inferring disease transmission networks is important in epidemiology in order to understand and prevent the spread of infectious diseases. Reconstruction of the infection transmission networks requires insight into viral genome data as well as social interactions. For the HIV-1 epidemic, current research either uses genetic information of patients' virus to infer the past infection events or uses statistics of sexual interactions to model the network structure of viral spreading. Methods for a reliable reconstruction of HIV-1 transmission dynamics, taking into account both molecular and societal data are still lacking. The aim of this study is to combine information from both genetic and epidemiological scales to characterize and analyse a transmission network of the HIV-1 epidemic in central Italy.We introduce a novel filter-reduction method to build a network of HIV infected patients based on their social and treatment information. The network is then combined with a genetic network, to infer a hypothetical infection transmission network. We apply this method to a cohort study of HIV-1 infected patients in central Italy and find that patients who are highly connected in the network have longer untreated infection periods. We also find that the network structures for homosexual males and heterosexual populations are heterogeneous, consisting of a majority of 'peripheral nodes' that have only a few sexual interactions and a minority of 'hub nodes' that have many sexual interactions. Inferring HIV-1 transmission networks using this novel combined approach reveals remarkable correlations between high out-degree individuals and longer untreated infection periods. These findings signify the importance of early treatment and support the potential benefit of wide population screening, management of early diagnoses and anticipated antiretroviral treatment to prevent viral transmission and spread. The approach presented here for reconstructing HIV-1 transmission networks

DOE (Department of Energy) Epidemiologic Research Program: Selected bibliography

Energy Technology Data Exchange (ETDEWEB)

1991-01-01

The objective of the Department of Energy (DOE) Epidemiologic Research Program is to determine the human health effects resulting from the generation and use of energy, and from the operation of DOE facilities. The program has been divided into seven general areas of activity: the Radiation Effects Research Foundation (RERF) which supports studies of survivors of the atomic weapons in Hiroshima and Nagasaki, mortality and morbidity studies of DOE workers, studies on internally deposited alpha emitters, medical/histologic studies, studies on the genetic aspects of radiation damage, community health surveillance studies, and the development of computational techniques and of databases to make the results as widely useful as possible. Excluding the extensive literature from the RERF, the program has produced 380 publications in scientific journals, contributing significantly to improving the understanding of the health effects of ionizing radiation exposure. In addition, a large number of public presentations were made and are documented elsewhere in published proceedings or in books. The purpose of this bibliograhpy is to present a guide to the research results obtained by scientists supported by the program. The bibliography, which includes doctoral theses, is classified by national laboratory and by year. Multi-authored studies are indicated only once, according to the main supporting laboratory.

Cryptic relatedness in epidemiologic collections accessed for genetic association studies: experiences from the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study and the National Health and Nutrition Examination Surveys (NHANES).

Science.gov (United States)

Malinowski, Jennifer; Goodloe, Robert; Brown-Gentry, Kristin; Crawford, Dana C

2015-01-01

Epidemiologic collections have been a major resource for genotype-phenotype studies of complex disease given their large sample size, racial/ethnic diversity, and breadth and depth of phenotypes, traits, and exposures. A major disadvantage of these collections is they often survey households and communities without collecting extensive pedigree data. Failure to account for substantial relatedness can lead to inflated estimates and spurious associations. To examine the extent of cryptic relatedness in an epidemiologic collection, we as the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study accessed the National Health and Nutrition Examination Surveys (NHANES) linked to DNA samples ("Genetic NHANES") from NHANES III and NHANES 1999-2002. NHANES are population-based cross-sectional surveys conducted by the National Center for Health Statistics at the Centers for Disease Control and Prevention. Genome-wide genetic data is not yet available in NHANES, and current data use agreements prohibit the generation of GWAS-level data in NHANES samples due issues in maintaining confidentiality among other ethical concerns. To date, only hundreds of single nucleotide polymorphisms (SNPs) genotyped in a variety of candidate genes are available for analysis in NHANES. We performed identity-by-descent (IBD) estimates in three self-identified subpopulations of Genetic NHANES (non-Hispanic white, non- Hispanic black, and Mexican American) using PLINK software to identify potential familial relationships from presumed unrelated subjects. We then compared the PLINKidentified relationships to those identified by an alternative method implemented in Kinship-based INference for Genome-wide association studies (KING). Overall, both methods identified familial relationships in NHANES III and NHANES 1999-2002 for all three subpopulations, but little concordance was observed between the two methods due in major part to the limited SNP data available in Genetic NHANES

Contemporary Genetics for Gender Researchers: Not Your Grandma's Genetics Anymore

Science.gov (United States)

Salk, Rachel H.; Hyde, Janet S.

2012-01-01

Over the past century, much of genetics was deterministic, and feminist researchers framed justified criticisms of genetics research. However, over the past two decades, genetics research has evolved remarkably and has moved far from earlier deterministic approaches. Our article provides a brief primer on modern genetics, emphasizing contemporary…

Concepts of social epidemiology in health services research

OpenAIRE

von dem Knesebeck, Olaf

2015-01-01

Background Social epidemiologists aim to identify social characteristics that affect the pattern of disease and health distribution in a society and to understand its mechanisms. Some important concepts of social epidemiology are: social inequalities, social relationships, social capital, and work stress. Discussion Concepts used in social epidemiology can make a useful contribution to health services research because the underlying social factors do not only influence health but are also rel...

Understanding of research, genetics and genetic research in a rapid ethical assessment in north west Cameroon.

Science.gov (United States)

Kengne-Ouafo, Jonas A; Millard, James D; Nji, Theobald M; Tantoh, William F; Nyoh, Doris N; Tendongfor, Nicholas; Enyong, Peter A; Newport, Melanie J; Davey, Gail; Wanji, Samuel

2016-05-01

There is limited assessment of whether research participants in low-income settings are afforded a full understanding of the meaning of medical research. There may also be particular issues with the understanding of genetic research. We used a rapid ethical assessment methodology to explore perceptions surrounding the meaning of research, genetics and genetic research in north west Cameroon. Eleven focus group discussions (including 107 adults) and 72 in-depth interviews were conducted with various stakeholders in two health districts in north west Cameroon between February and April 2012. Most participants appreciated the role of research in generating knowledge and identified a difference between research and healthcare but gave varied explanations as to this difference. Most participants' understanding of genetics was limited to concepts of hereditary, with potential benefits limited to the level of the individual or family. Explanations based on supernatural beliefs were identified as a special issue but participants tended not to identify any other special risks with genetic research. We demonstrated a variable level of understanding of research, genetics and genetic research, with implications for those carrying out genetic research in this and other low resource settings. Our study highlights the utility of rapid ethical assessment prior to complex or sensitive research. © The Author 2015. Published by Oxford University Press on behalf of Royal Society of Tropical Medicine and Hygiene.

Landscape genetics highlights the role of bank vole metapopulation dynamics in the epidemiology of Puumala hantavirus.

Science.gov (United States)

Guivier, E; Galan, M; Chaval, Y; Xuéreb, A; Ribas Salvador, A; Poulle, M-L; Voutilainen, L; Henttonen, H; Charbonnel, N; Cosson, J F

2011-09-01

Rodent host dynamics and dispersal are thought to be critical for hantavirus epidemiology as they determine pathogen persistence and transmission within and between host populations. We used landscape genetics to investigate how the population dynamics of the bank vole Myodes glareolus, the host of Puumala hantavirus (PUUV), vary with forest fragmentation and influence PUUV epidemiology. We sampled vole populations within the Ardennes, a French PUUV endemic area. We inferred demographic features such as population size, isolation and migration with regard to landscape configuration. We next analysed the influence of M. glareolus population dynamics on PUUV spatial distribution. Our results revealed that the global metapopulation dynamics of bank voles were strongly shaped by landscape features, including suitable patch size and connectivity. Large effective size in forest might therefore contribute to the higher observed levels of PUUV prevalence. By contrast, populations from hedge networks highly suffered from genetic drift and appeared strongly isolated from all other populations. This might result in high probabilities of local extinction for both M. glareolus and PUUV. Besides, we detected signatures of asymmetric bank vole migration from forests to hedges. These movements were likely to sustain PUUV in fragmented landscapes. In conclusion, our study provided arguments in favour of source-sink dynamics shaping PUUV persistence and spread in heterogeneous, Western European temperate landscapes. It illustrated the potential contribution of landscape genetics to the understanding of the epidemiological processes occurring at this local scale. © 2011 Blackwell Publishing Ltd.

Hepatitis A virus infection: Epidemiology and genetic diversity

Directory of Open Access Journals (Sweden)

Báez Triana, Paula Andrea

2015-04-01

Full Text Available Hepatitis A virus infection is a global public health problem. The virus has a wide range of distribution and it is the main cause of acute hepatitis transmitted by the enteric route in Latin America. The viral particle is stable under environmental conditions and conserves its infectivity for several weeks, enabling its transmission by contaminated water and food. Worldwide, different epidemiological patterns have been identified, which may change over time by modification of social and economic variables in the population such as vaccination and the improvement of hygiene and primary health conditions. This leaves new populations susceptible to infection. In Latin America the circulation of genotype I and subgenotypes A and B has been described, but more research is needed to provide the knowledge needed to manage the prevention and control plans for the worldwide reduction of the prevalence of infection. For this paper, a literature review was performed on the SciELO, PubMed and ScienceDirect databases under the search terms "Hepatitis A", "Epidemiology," "Seroprevalence" and "Infection." From the results obtained, only papers published in English and Spanish to describe epidemiological and molecular studies of interest in Latin America were included.

Epidemiologic and genetic characteristics of mumps viruses isolated in China from 1995 to 2010.

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Cui, Aili; Zhu, Zhen; Chen, Meng; Zheng, Huanying; Liu, Leng; Wang, Yan; Ma, Yan; Wang, Changyin; Fang, Xueqiang; Li, Ping; Guan, Ronghui; Wang, Shuang; Zhou, Jianhui; Zheng, Lei; Gao, Hui; Ding, Zhengrong; Li, Liqun; Bo, Fang; Sun, Zhaodan; Zhang, Zhenying; Feng, Daxing; He, Jilan; Chen, Hui; Jin, Li; Rota, Paul A; Xu, Wenbo

2014-01-01

The epidemiologic and genetic characteristics of mumps viruses detected in China from 1995 to 2010 were analyzed in this study. Mumps remains endemic in China with a high overall incidence rate. The incidence of mumps in Western China was higher than that in other regions of the country. Each year, most of mumps cases occurred between April and July, but a small peak also occurred in November and December. Mumps cases primarily affected the under 15 year old age group. Virologic data demonstrated that genotype F was the predominant circulating genotype throughout China for at least 15 years and no other genotype was detected between 1995 and 2010. Analysis of sequence data from the small hydrophobic (SH) gene indicated that multiple transmission chains of genotype F were found in various provinces of China, with no apparent chronologic and geographic restriction. This is the first report describing the epidemiology of mumps and genetic characterization of mumps viruses at the national level in China. Copyright © 2013 Elsevier B.V. All rights reserved.

Genetic characterization, molecular epidemiology, and phylogenetic relationships of insect-specific viruses in the taxon Negevirus.

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Nunes, Marcio R T; Contreras-Gutierrez, María Angélica; Guzman, Hilda; Martins, Livia C; Barbirato, Mayla Feitoza; Savit, Chelsea; Balta, Victoria; Uribe, Sandra; Vivero, Rafael; Suaza, Juan David; Oliveira, Hamilton; Nunes Neto, Joaquin P; Carvalho, Valeria L; da Silva, Sandro Patroca; Cardoso, Jedson F; de Oliveira, Rodrigo Santo; da Silva Lemos, Poliana; Wood, Thomas G; Widen, Steven G; Vasconcelos, Pedro F C; Fish, Durland; Vasilakis, Nikos; Tesh, Robert B

2017-04-01

The recently described taxon Negevirus is comprised of a diverse group of insect-specific viruses isolated from mosquitoes and phlebotomine sandflies. In this study, a comprehensive genetic characterization, molecular, epidemiological and evolutionary analyses were conducted on nearly full-length sequences of 91 new negevirus isolates obtained in Brazil, Colombia, Peru, Panama, USA and Nepal. We demonstrated that these arthropod restricted viruses are clustered in two major phylogenetic groups with origins related to three plant virus genera (Cilevirus, Higrevirus and Blunevirus). Molecular analyses demonstrated that specific host correlations are not present with most negeviruses; instead, high genetic variability, wide host-range, and cross-species transmission were noted. The data presented here also revealed the existence of five novel insect-specific viruses falling into two arthropod-restrictive virus taxa, previously proposed as distinct genera, designated Nelorpivirus and Sandewavirus. Our results provide a better understanding of the molecular epidemiology, evolution, taxonomy and stability of this group of insect-restricted viruses. Copyright © 2017 Elsevier Inc. All rights reserved.

[Algorithm for application of the "ethical guidelines for epidemiological research" and taxonomy of public health research].

Science.gov (United States)

Okamoto, Etsuji

2003-11-01

"Ethical Guidelines for Epidemiological Research" took effect in July 2002, with a moral duty of all researchers to comply when conducting epidemiological studies although it is not legally binding. Public health research entails various forms of studies including not only epidemiological studies but also attention to psychological, societal and economic aspects, which are outside of the jurisdiction of the guidelines. Hence, confusion may arise among members of Japanese Society of Public Health as to whether the study they conduct falls within the definition of epidemiological research. The author discusses legal interpretations of the guidelines arising in the course of translation work as part of government-funded project, "Dissemination of the 'Ethical Guidelines for Epidemiological Research' via Internet (principal investigator: Toru Doi)" and argues that a case-method approach would be best suited to enhance understanding by researchers with diverse, non-legal backgrounds. The author proposes an algorithm for classification of studies as to whether the guideline applies, and applies it to all original articles published in the Japanese Journal of Public Health (JJPH) in one year (March 2002 thru February 2003). The rationale for classification is discussed from the strict legal viewpoint in each case. Sixteen out of 46 original articles published in JJPH for one year were classified as epidemiological studies to which the guidelines apply. Those classified otherwise were psychological studies (10), epidemiological studies not targeting specific diseases and are exempt form the guidelines (3), purely methodological studies (4), economics studies (3), fact-finding or opinion surveys with no hypothesis testing (2), as well as studies authorized by law (4) or using unlinkable anonymous data only (4), all of which are exempt from the guidelines. Reference to ethical considerations in the methodology section as required by the instructions for authors was generally

The Changing Epidemiology of Autism Spectrum Disorders.

Science.gov (United States)

Lyall, Kristen; Croen, Lisa; Daniels, Julie; Fallin, M Daniele; Ladd-Acosta, Christine; Lee, Brian K; Park, Bo Y; Snyder, Nathaniel W; Schendel, Diana; Volk, Heather; Windham, Gayle C; Newschaffer, Craig

2017-03-20

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with lifelong impacts. Genetic and environmental factors contribute to ASD etiology, which remains incompletely understood. Research on ASD epidemiology has made significant advances in the past decade. Current prevalence is estimated to be at least 1.5% in developed countries, with recent increases primarily among those without comorbid intellectual disability. Genetic studies have identified a number of rare de novo mutations and gained footing in the areas of polygenic risk, epigenetics, and gene-by-environment interaction. Epidemiologic investigations focused on nongenetic factors have established advanced parental age and preterm birth as ASD risk factors, indicated that prenatal exposure to air pollution and short interpregnancy interval are potential risk factors, and suggested the need for further exploration of certain prenatal nutrients, metabolic conditions, and exposure to endocrine-disrupting chemicals. We discuss future challenges and goals for ASD epidemiology as well as public health implications.

Late radiation effects: status and needs of epidemiologic research

International Nuclear Information System (INIS)

Miller, R.W.

1974-01-01

Epidemiologic studies of late radiation effects in man are reviewed, based on exposure to the atomic bomb, radiotherapy, diagnostic radiations, and occupational or accidental exposures. Areas studied include: genetic effects, fertility, immunology, cancer, congenital malformations, growth and development, aging, cataracts, psychiatric effects, interactions with drugs or viruses, host susceptibility, and radiation factors. Cancer areas discussed include leukemia; thyroid, lung, breast, bone, and liver cancers; lymphoma; salivary gland tumors; brain tumors; nonleukemia cancers; intrauterine exposures; and preconception irradiation and childhood cancers. (U.S.)

Sewage epidemiology and illicit drug research: the development of ethical research guidelines.

Science.gov (United States)

Prichard, Jeremy; Hall, Wayne; de Voogt, Pim; Zuccato, Ettore

2014-02-15

To discuss the need to develop ethical guidelines for researchers using sewage epidemiology to monitor drug use in the general population and specific precincts, including prisons, schools and workplaces. Describe current applications of sewage epidemiology, identify potential ethical risks associated with this science, and identify key means by which these risks may be mitigated through proportionate ethical guidance that allows this science to be fully developed. A rapidly advancing field of research is sewage epidemiology (SE) - the analysis of wastewater samples to monitor illicit drug use and other substances. Typically this research involves low ethical risks because individual participants cannot be identified and, consequently, review has been waived by human research ethics committees. In the absence of such oversight, ethical research guidelines are recommended for SE teams, peer reviewers and journal editors; guidelines will assist them to mitigate any risks in general population studies and studies of prisons, schools and workplaces. Potential harms include the stigmatisation of participants and, in the prison setting, austere policy responses to SE data that impact negatively upon inmate-participants. The risk of harm can be managed through research planning, awareness of the socio-political context in which results will be interpreted (or, in the case of media, sensationalised) and careful relations with industry partners. Ethical guidelines should be developed in consultation with SE scholars and be periodically amended. They should include publication processes that safeguard scientific rigour and be promulgated through existing research governance structures. Guidelines will assist to promote an ethical research culture among SE teams and scholars involved in the publication process and this will work to protect the reputation of the field. Copyright © 2014 Elsevier B.V. All rights reserved.

Genetic Epidemiology of Type 2 Diabetes in Mexican Mestizos

Directory of Open Access Journals (Sweden)

Eiralí Guadalupe García-Chapa

2017-01-01

Full Text Available There are currently about 415 million people with diabetes worldwide, a figure likely to increase to 642 million by 2040. In 2015, Mexico was the second Latin American country and sixth in the world in prevalence of this disorder with nearly 11.5 million of patients. Type 2 diabetes (T2D is the main kind of diabetes and its etiology is complex with environmental and genetic factors involved. Indeed, polymorphisms in several genes have been associated with this disease worldwide. To estimate the genetic epidemiology of T2D in Mexican mestizos a systematic bibliographic search of published articles through PubMed, Scopus, Google Scholar, and Web of Science was conducted. Just case-control studies of candidate genes about T2D in Mexican mestizo inhabitants were included. Nineteen studies that met the inclusion criteria were found. In total, 68 polymorphisms of 41 genes were assessed; 26 of them were associated with T2D risk, which were located in ABCA1, ADRB3, CAPN10, CDC123/CAMK1D, CDKAL1, CDKN2A/2B, CRP, ELMO1, FTO, HHEX, IGF2BP2, IRS1, JAZF1, KCNQ1, LOC387761, LTA, NXPH1, SIRT1, SLC30A8, TCF7L2, and TNF-α genes. Overall, 21 of the 41 analyzed genes were associated with T2D in Mexican mestizos. Such a genetic heterogeneity compares with findings in other ethnic groups.

Molecular epidemiology: new rules for new tools?

Science.gov (United States)

Merlo, Domenico Franco; Sormani, Maria Pia; Bruzzi, Paolo

2006-08-30

Molecular epidemiology combines biological markers and epidemiological observations in the study of the environmental and genetic determinants of cancer and other diseases. The potential advantages associated with biomarkers are manifold and include: (a) increased sensitivity and specificity to carcinogenic exposures; (b) more precise evaluation of the interplay between genetic and environmental determinants of cancer; (c) earlier detection of carcinogenic effects of exposure; (d) characterization of disease subtypes-etiologies patterns; (e) evaluation of primary prevention measures. These, in turn, may translate into better tools for etiologic research, individual risk assessment, and, ultimately, primary and secondary prevention. An area that has not received sufficient attention concerns the validation of these biomarkers as surrogate endpoints for cancer risk. Validation of a candidate biomarker's surrogacy is the demonstration that it possesses the properties required for its use as a substitute for a true endpoint. The principles underlying the validation process underwent remarkable developments and discussion in therapeutic research. However, the challenges posed by the application of these principles to epidemiological research, where the basic tool for this validation (i.e., the randomized study) is seldom possible, have not been thoroughly explored. The validation process of surrogacy must be applied rigorously to intermediate biomarkers of cancer risk before using them as risk predictors at the individual as well as at the population level.

Reproducing Epidemiologic Research and Ensuring Transparency.

Science.gov (United States)

Coughlin, Steven S

2017-08-15

Measures for ensuring that epidemiologic studies are reproducible include making data sets and software available to other researchers so they can verify published findings, conduct alternative analyses of the data, and check for statistical errors or programming errors. Recent developments related to the reproducibility and transparency of epidemiologic studies include the creation of a global platform for sharing data from clinical trials and the anticipated future extension of the global platform to non-clinical trial data. Government agencies and departments such as the US Department of Veterans Affairs Cooperative Studies Program have also enhanced their data repositories and data sharing resources. The Institute of Medicine and the International Committee of Medical Journal Editors released guidance on sharing clinical trial data. The US National Institutes of Health has updated their data-sharing policies. In this issue of the Journal, Shepherd et al. (Am J Epidemiol. 2017;186:387-392) outline a pragmatic approach for reproducible research with sensitive data for studies for which data cannot be shared because of legal or ethical restrictions. Their proposed quasi-reproducible approach facilitates the dissemination of statistical methods and codes to independent researchers. Both reproducibility and quasi-reproducibility can increase transparency for critical evaluation, further dissemination of study methods, and expedite the exchange of ideas among researchers. © The Author(s) 2017. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Ethics and epidemiological research | Cullinan | Malawi Medical ...

African Journals Online (AJOL)

Journal Home > Vol 8, No 2 (1992) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. Ethics and epidemiological research. T Cullinan. Abstract. No Abstract. Full Text: EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL ...

Biomarkers in molecular epidemiology study of oral squamous cell carcinoma in the era of precision medicine

Directory of Open Access Journals (Sweden)

Qing-Hao Zhu

2017-01-01

Full Text Available Oral cancer, which occurs in the mouth, lips, and tongue, is a multifactorial disease whose etiology involves environment, genetic, and epigenetic factors. Tobacco use and alcohol consumption are regarded as the primary risk factors for oral squamous cell carcinoma (OSCC, and betel use, other chemicals, radiation, environmental, and genetics are reported as relevant risk factors for oral carcinogenesis. The human papillomavirus infection is an independent risk factor. Traditional epidemiology studies have revealed that environmental carcinogens are risk factors for OSCC. Molecular epidemiology studies have revealed that the susceptibility to OSCC is influenced by both environmental and genetic risk factors. However, the details and mechanisms of risk factors involved in OSCC are unclear. Advanced methods and techniques used in human genome studies provide great opportunities for researchers to explore and identify (a the details of such risk factors and (b genetic susceptibility involved in OSCC. Human genome epidemiology is a new branch of epidemiology, which leads the epidemiology study from the molecular epidemiology era into the era of genome-wide association study. In the era of precision medicine, molecular epidemiology studies should focus on biomarkers for cancer genomics and their potential utility in clinical practice. Here, we briefly reviewed several molecular epidemiology studies of OSCC, focusing on biomarkers as valuable utility in risk assessment, clinical screening, diagnosis, and prognosis prediction of OSCC in the era of precision medicine.

Role of genomic typing in taxonomy, evolutionary genetics, and microbial epidemiology.

NARCIS (Netherlands)

A.F. van Belkum (Alex); M. Struelens; A. de Visser (Arjan); H.A. Verbrugh (Henri); M. Tibayrench

2001-01-01

textabstractCurrently, genetic typing of microorganisms is widely used in several major fields of microbiological research. Taxonomy, research aimed at elucidation of evolutionary dynamics or phylogenetic relationships, population genetics of microorganisms, and

Epidemiologic research topics in Germany: a keyword network analysis of 2014 DGEpi conference presentations.

Science.gov (United States)

Peter, Raphael Simon; Brehme, Torben; Völzke, Henry; Muche, Rainer; Rothenbacher, Dietrich; Büchele, Gisela

2016-06-01

Knowledge of epidemiologic research topics as well as trends is useful for scientific societies, researchers and funding agencies. In recent years researchers recognized the usefulness of keyword network analysis for visualizing and analyzing scientific research topics. Therefore, we applied keyword network analysis to present an overview of current epidemiologic research topics in Germany. Accepted submissions to the 9th annual congress of the German Society for Epidemiology (DGEpi) in 2014 were used as data source. Submitters had to choose one of 19 subject areas, and were ask to provide a title, structured abstract, names of authors along with their affiliations, and a list of freely selectable keywords. Keywords had been provided for 262 (82 %) submissions, 1030 keywords in total. Overall the most common keywords were: "migration" (18 times), "prevention" (15 times), followed by "children", "cohort study", "physical activity", and "secondary data analysis" (11 times each). Some keywords showed a certain concentration under one specific subject area, e.g. "migration" with 8 of 18 in social epidemiology or "breast cancer" with 4 of 7 in cancer epidemiology. While others like "physical activity" were equally distributed over multiple subject areas (cardiovascular & metabolic diseases, ageing, methods, paediatrics, prevention & health service research). This keyword network analysis demonstrated the high diversity of epidemiologic research topics with a large number of distinct keywords as presented at the annual conference of the DGEpi.

Encouraging primary care research: evaluation of a one-year, doctoral clinical epidemiology research course.

Science.gov (United States)

Liira, Helena; Koskela, Tuomas; Thulesius, Hans; Pitkälä, Kaisu

2016-01-01

Research and PhDs are relatively rare in family medicine and primary care. To promote research, regular one-year research courses for primary care professionals with a focus on clinical epidemiology were started. This study explores the academic outcomes of the first four cohorts of research courses and surveys the participants' perspectives on the research course. An electronic survey was sent to the research course participants. All peer-reviewed scientific papers published by these students were retrieved by literature searches in PubMed. Primary care in Finland. A total of 46 research course participants who had finished the research courses between 2007 and 2012. Of the 46 participants 29 were physicians, eight nurses, three dentists, four physiotherapists, and two nutritionists. By the end of 2014, 28 of the 46 participants (61%) had published 79 papers indexed in PubMed and seven students (15%) had completed a PhD. The participants stated that the course taught them critical thinking, and provided basic research knowledge, inspiration, and fruitful networks for research. A one-year, multi-professional, clinical epidemiology based research course appeared to be successful in encouraging primary care research as measured by research publications and networking. Activating teaching methods, encouraging focus on own research planning, and support from peers and tutors helped the participants to embark on research projects that resulted in PhDs for 15% of the participants. Clinical research and PhDs are rare in primary care in Finland, which has consequences for the development of the discipline and for the availability of clinical lecturers at the universities. A clinical epidemiology oriented, one-year research course increased the activity in primary care research. Focus on own research planning and learning the challenges of research with peers appeared to enhance the success of a doctoral research course. A doctoral research course encouraged networking, and

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

Science.gov (United States)

Tavtigian, Sean V; Byrnes, Graham B; Goldgar, David E; Thomas, Alun

2008-11-01

Many individually rare missense substitutions are encountered during deep resequencing of candidate susceptibility genes and clinical mutation screening of known susceptibility genes. BRCA1 and BRCA2 are among the most resequenced of all genes, and clinical mutation screening of these genes provides an extensive data set for analysis of rare missense substitutions. Align-GVGD is a mathematically simple missense substitution analysis algorithm, based on the Grantham difference, which has already contributed to classification of missense substitutions in BRCA1, BRCA2, and CHEK2. However, the distribution of genetic risk as a function of Align-GVGD's output variables Grantham variation (GV) and Grantham deviation (GD) has not been well characterized. Here, we used data from the Myriad Genetic Laboratories database of nearly 70,000 full-sequence tests plus two risk estimates, one approximating the odds ratio and the other reflecting strength of selection, to display the distribution of risk in the GV-GD plane as a series of surfaces. We abstracted contours from the surfaces and used the contours to define a sequence of missense substitution grades ordered from greatest risk to least risk. The grades were validated internally using a third, personal and family history-based, measure of risk. The Align-GVGD grades defined here are applicable to both the genetic epidemiology problem of classifying rare missense substitutions observed in known susceptibility genes and the molecular epidemiology problem of analyzing rare missense substitutions observed during case-control mutation screening studies of candidate susceptibility genes. (c) 2008 Wiley-Liss, Inc.

The leukemias: Epidemiologic aspects

International Nuclear Information System (INIS)

Linet, M.S.

1984-01-01

Particularly geared to physicians and cancer researchers, this study of the epidemiology and etiology of leukemia analyzes the four major leukemia subtypes in terms of genetic and familial determinant factors and examines the incidence, distribution and frequency of reported leukemia clusters. Linet discusses the connection between other types of malignancies, their treatments, and the subsequent development of leukemia and evaluates the impact on leukemia onset of such environmental factors as radiation therapy, drugs, and occupational hazards

Chapter 2. Fasciola, lymnaeids and human fascioliasis, with a global overview on disease transmission, epidemiology, evolutionary genetics, molecular epidemiology and control.

Science.gov (United States)

Mas-Coma, Santiago; Valero, María Adela; Bargues, María Dolores

2009-01-01

Fascioliasis, caused by liver fluke species of the genus Fasciola, has always been well recognized because of its high veterinary impact but it has been among the most neglected diseases for decades with regard to human infection. However, the increasing importance of human fascioliasis worldwide has re-launched interest in fascioliasis. From the 1990s, many new concepts have been developed regarding human fascioliasis and these have furnished a new baseline for the human disease that is very different to a simple extrapolation from fascioliasis in livestock. Studies have shown that human fascioliasis presents marked heterogeneity, including different epidemiological situations and transmission patterns in different endemic areas. This heterogeneity, added to the present emergence/re-emergence of the disease both in humans and animals in many regions, confirms a worrying global scenario. The huge negative impact of fascioliasis on human communities demands rapid action. When analyzing how better to define control measures for endemic areas differing at such a level, it would be useful to have genetic markers that could distinguish each type of transmission pattern and epidemiological situation. Accordingly, this chapter covers aspects of aetiology, geographical distribution, epidemiology, transmission and control in order to obtain a solid baseline for the interpretation of future results. The origins and geographical spread of F. hepatica and F. gigantica in both the ruminant pre-domestication times and the livestock post-domestication period are analyzed. Paleontological, archaeological and historical records, as well as genetic data on recent dispersal of livestock species, are taken into account to establish an evolutionary framework for the two fasciolids across all continents. Emphasis is given to the distributional overlap of both species and the roles of transportation, transhumance and trade in the different overlap situations. Areas with only one Fasciola

Genetic epidemiology of sporadic colorectal cancer

Czech Academy of Sciences Publication Activity Database

Vodička, Pavel; Pardini, Barbara; Souček, P.; Novotný, J.; Naccarati, Alessio; Vodičková, Ludmila; Hánová, Monika; Tulupová, Elena; Poláková, Veronika; Halamková, J.; Hemminki, K.

2006-01-01

Roč. 18, Supplement 1 (2006), S8-S8 ISSN 1107-3756. [The 11th World Congress on Advances in Oncology and 9th International Symposium on Molecular Medicine . 12.10.2006-14.10.2006, Hersonissos] R&D Projects: GA ČR GA310/05/2626; GA MZd NR8563 Institutional research plan: CEZ:AV0Z50390512 Keywords : DNA repair genes Subject RIV: EB - Genetics ; Molecular Biology

Familial clustering and genetic risk for dementia in a genetically isolated Dutch population.

NARCIS (Netherlands)

K. Sleegers (Kristel); F. Forey; J. Theuns (Jessie); Y.S. Aulchenko (Yurii); S. Rademakers (Suzanne); M. Cruts (Marc); W.A. van Gool (Willem); P. Heutink (Peter); B.A. Oostra (Ben); J.C. van Swieten (John); C.M. van Duijn (Cornelia); C. van Broeckhoven (Christine)

2004-01-01

textabstractDespite advances in elucidating the genetic epidemiology of Alzheimer's disease and frontotemporal dementia, the aetiology for most patients with dementia remains unclear. We examined the genetic epidemiology of dementia in a recent genetically isolated Dutch population founded around

Familial clustering and genetic risk for dementia in a genetically isolated Dutch population

NARCIS (Netherlands)

Sleegers, K.; Roks, G.; Theuns, J.; Aulchenko, Y. S.; Rademakers, R.; Cruts, M.; van Gool, W. A.; van Broeckhoven, C.; Heutink, P.; Oostra, B. A.; van Swieten, J. C.; van Duijn, C. M.

2004-01-01

Despite advances in elucidating the genetic epidemiology of Alzheimer's disease and frontotemporal dementia, the aetiology for most patients with dementia remains unclear. We examined the genetic epidemiology of dementia in a recent genetically isolated Dutch population founded around 1750. The

Epidemiology of Brucellosis and Genetic Diversity of Brucella abortus in Kazakhstan.

Science.gov (United States)

Shevtsova, Elena; Shevtsov, Alexandr; Mukanov, Kasim; Filipenko, Maxim; Kamalova, Dinara; Sytnik, Igor; Syzdykov, Marat; Kuznetsov, Andrey; Akhmetova, Assel; Zharova, Mira; Karibaev, Talgat; Tarlykov, Pavel; Ramanculov, Erlan

2016-01-01

Brucellosis is a major zoonotic infection in Kazakhstan. However, there is limited data on its incidence in humans and animals, and the genetic diversity of prevalent strains is virtually unstudied. Additionally, there is no detailed overview of Kazakhstan brucellosis control and eradication programs. Here, we analyzed brucellosis epidemiological data, and assessed the effectiveness of eradication strategies employed over the past 70 years to counteract this infection. We also conducted multiple loci variable-number tandem repeat analysis (MLVA) of Brucella abortus strains found in Kazakhstan. We analyzed official data on the incidence of animal brucellosis in Kazakhstan. The records span more than 70 years of anti-brucellosis campaigns, and contain a brief description of the applied control strategies, their effectiveness, and their impact on the incidence in humans. The MLVA-16 method was used to type 94 strains of B. abortus and serial passages of B. abortus 82, a strain used in vaccines. MLVA-8 and MLVA-11 analyses clustered strains into a total of four and seven genotypes, respectively; it is the first time that four of these genotypes have been described. MLVA-16 analysis divided strains into 28 distinct genotypes having genetic similarity coefficient that varies from 60 to100% and a Hunter & Gaston diversity index of 0.871. MST analysis reconstruction revealed clustering into "Kazakhstani-Chinese (Central Asian)", "European" and "American" lines. Detection of multiple genotypes in a single outbreak confirms that poorly controlled trade of livestock plays a crucial role in the spread of infection. Notably, the MLVA-16 profile of the B. abortus 82 strain was unique and did not change during 33 serial passages. MLVA genotyping may thus be useful for epidemiological monitoring of brucellosis, and for tracking the source(s) of infection. We suggest that countrywide application of MLVA genotyping would improve the control of brucellosis in Kazakhstan.

eCOMPAGT – efficient Combination and Management of Phenotypes and Genotypes for Genetic Epidemiology

Directory of Open Access Journals (Sweden)

Specht Günther

2009-05-01

Full Text Available Abstract Background High-throughput genotyping and phenotyping projects of large epidemiological study populations require sophisticated laboratory information management systems. Most epidemiological studies include subject-related personal information, which needs to be handled with care by following data privacy protection guidelines. In addition, genotyping core facilities handling cooperative projects require a straightforward solution to monitor the status and financial resources of the different projects. Description We developed a database system for an efficient combination and management of phenotypes and genotypes (eCOMPAGT deriving from genetic epidemiological studies. eCOMPAGT securely stores and manages genotype and phenotype data and enables different user modes with different rights. Special attention was drawn on the import of data deriving from TaqMan and SNPlex genotyping assays. However, the database solution is adjustable to other genotyping systems by programming additional interfaces. Further important features are the scalability of the database and an export interface to statistical software. Conclusion eCOMPAGT can store, administer and connect phenotype data with all kinds of genotype data and is available as a downloadable version at http://dbis-informatik.uibk.ac.at/ecompagt.

[Food industry funding and epidemiologic research in public health nutrition].

Science.gov (United States)

Navarrete-Muñoz, Eva María; Tardón, Adonina; Romaguera, Dora; Martínez-González, Miguel Ángel; Vioque, Jesús

The interests of the food industry to fund nutrition and health research are not limited to promoting scientific advances. Recently, several systematic reviews conducted about the effect of sugar-sweetened beverages and health outcomes have shown some biased conclusions in studies that acknowledge industry sponsorship. In this context, the Nutrition Working Group of the Spanish Epidemiology Society presented a scientific session entitled Food industry and epidemiologic research at its annual meeting. In a round table, four experts in nutrition research presented their points of view about whether the food industry should fund nutrition-related research and the related potential conflicts of interest of the food industry. All the experts agreed not only on defending independence in nutritional epidemiology regarding the design, interpretation and conclusion of their studies but also on the crucial need for guaranteed scientific rigor, scientific quality of the results and measures to protect studies against potential biases related to the conflicts of interest of funding by the food industry. Drs Pérez-Farinós and Romaguera believe that the most effective way to prevent conflicts of interest would be not to allow the food industry to fund nutrition research; Drs Marcos and Martínez-González suggested the need to establish mechanisms and strategies to prevent the potential influences of the food industry in selecting researchers or institutional sponsorship and in the analysis and results of the studies, to ensure maximum independence for researchers, as well as their professional ethics. Copyright © 2017 SESPAS. Publicado por Elsevier España, S.L.U. All rights reserved.

[The genetics of addictions].

Science.gov (United States)

Ibañez Cuadrado, Angela

2008-01-01

The addictions are common chronic psychiatric diseases which represent a serious worldwide public-health problem. They have a high prevalence and negative effects at individual, family and societal level, with a high sanitary cost. Epidemiological genetic research has revealed that addictions are moderately to highly heritable. Also the investigation has evidenced that environmental and genetic factors contribute to individual differences in vulnerability to addictions. Advances in the neurobiology of addiction joined to the development of new molecular genetic technologies, have led to the identification of a variety of underlying genes and pathways in addiction process, leading to the description of common molecular mechanisms in substance and behaviour dependencies. Identifying gene-environment interactions is a crucial issue in future research. Other major goal in genetic research is the identification of new therapeutic targets for treatment and prevention.

The systematics and population genetics of Opisthorchis viverrini sensu lato: implications in parasite epidemiology and bile duct cancer.

Science.gov (United States)

Sithithaworn, Paiboon; Andrews, Ross H; Petney, Trevor N; Saijuntha, Weerachai; Laoprom, Nonglak

2012-03-01

Together with host and environmental factors, the systematics and population genetic variation of Opisthorchis viverrini may contribute to recorded local and regional differences in epidemiology and host morbidity in opisthorchiasis and cholangiocarcinoma (CCA). In this review, we address recent findings that O. viverrini comprises a species complex with varying degrees of population genetic variation which are associated with specific river wetland systems within Thailand as well as the Lao PDR. Having an accurate understanding of systematics is a prerequisite for a meaningful assessment of the population structure of each species within the O. viverrini complex in nature, as well as a better understanding of the magnitude of genetic variation that occurs within different species of hosts in its life cycle. Whether specific genotypes are related to habitat type(s) and/or specific intermediate host species are discussed based on current available data. Most importantly, we focus on whether there is a correlation between incidence of CCA and genotype(s) of O. viverrini. This will provide a solid basis for further comprehensive investigations of the role of genetic variation within each species of O. viverrini sensu lato in human epidemiology and genotype related morbidity as well as co-evolution of parasites with primary and secondary intermediate species of host. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

EPIDEMIOLOGICAL RESEARCH OF PREVALENCE AND INCIDENCE OF FAMILY VIOLENCE ON CHILDREN IN CROATIA

OpenAIRE

Ajduković, Marina; Rimac, Ivan; Rajter, Miroslav; Sušac, Nika

2013-01-01

The paper presents the results of epidemiological research on the extent of family violence on children in the Republic of Croatia. The research used a two-phase design with a probability sample of children aged 11, 13 and 16 regularly enrolled into Croatian primary and secondary schools (N=3.644). Data was obtained within the international research FP7 project “BECAN – Balkan Epidemiological Study on Child Abuse and Neglect“. The research used the revised version of ISPCAN Child Abuse Screen...

Genetics researchers’ and iRB professionals’ attitudes toward genetic research review: a comparative analysis

Science.gov (United States)

Edwards, Karen L.; Lemke, Amy A.; Trinidad, Susan B.; Lewis, Susan M.; Starks, Helene; Snapinn, Katherine W.; Griffin, Mary Quinn; Wiesner, Georgia L.; Burke, Wylie

2012-01-01

Purpose Genetic research involving human participants can pose challenging questions related to ethical and regulatory standards for research oversight. However, few empirical studies describe how genetic researchers and institutional review board (IRB) professionals conceptualize ethical issues in genetic research or where common ground might exist. Methods Parallel online surveys collected information from human genetic researchers (n = 351) and IRB professionals (n = 208) regarding their views about human participant oversight for genetic protocols. Results A range of opinions were observed within groups on most issues. In both groups, a minority thought it likely that people would be harmed by participation in genetic research or identified from coded genetic data. A majority of both groups agreed that reconsent should be required for four of the six scenarios presented. Statistically significant differences were observed between groups on some issues, with more genetic researcher respondents trusting the confidentiality of coded data, fewer expecting harms from reidentification, and fewer considering reconsent necessary in certain scenarios. Conclusions The range of views observed within and between IRB and genetic researcher groups highlights the complexity and unsettled nature of many ethical issues in genome research. Our findings also identify areas where researcher and IRB views diverge and areas of common ground. PMID:22241102

Genetic diversity and epidemiology of infectious hematopoietic necrosis virus in Alaska

Science.gov (United States)

Emmenegger, E.G; Meyers, T.R.; Burton, T.O.; Kurath, G.

2000-01-01

Forty-two infectious hematopoietic necrosis virus (IHNV) isolates from Alaska were analyzed using the ribonuclease protection assay (RPA) and nucleotide sequencing. RPA analyses, utilizing 4 probes, N5, N3 (N gene), GF (G gene), and NV (NV gene), determined that the haplotypes of all 3 genes demonstrated a consistent spatial pattern. Virus isolates belonging to the most common haplotype groups were distributed throughout Alaska, whereas isolates in small haplotype groups were obtained from only 1 site (hatchery, lake, etc.). The temporal pattern of the GF haplotypes suggested a 'genetic acclimation' of the G gene, possibly due to positive selection on the glycoprotein. A pairwise comparison of the sequence data determined that the maximum nucleotide diversity of the isolates was 2.75% (10 mismatches) for the NV gene, and 1.99% (6 mismatches) for a 301 base pair region of the G gene, indicating that the genetic diversity of IHNV within Alaska is notably lower than in the more southern portions of the IHNV North American range. Phylogenetic analysis of representative Alaskan sequences and sequences of 12 previously characterized IHNV strains from Washington, Oregon, Idaho, California (USA) and British Columbia (Canada) distinguished the isolates into clusters that correlated with geographic origin and indicated that the Alaskan and British Columbia isolates may have a common viral ancestral lineage. Comparisons of multiple isolates from the same site provided epidemiological insights into viral transmission patterns and indicated that viral evolution, viral introduction, and genetic stasis were the mechanisms involved with IHN virus population dynamics in Alaska. The examples of genetic stasis and the overall low sequence heterogeneity of the Alaskan isolates suggested that they are evolutionarily constrained. This study establishes a baseline of genetic fingerprint patterns and sequence groups representing the genetic diversity of Alaskan IHNV isolates. This

Data on education: from population statistics to epidemiological research

DEFF Research Database (Denmark)

Pallesen, Palle Bo; Tverborgvik, Torill; Rasmussen, Hanna Barbara

2010-01-01

BACKGROUND: Level of education is in many fields of research used as an indicator of social status. METHODS: Using Statistics Denmark's register for education and employment of the population, we examined highest completed education with a birth-cohort perspective focusing on people born between...... of population trends by use of extrapolated values, solutions are less obvious in epidemiological research using individual level data....

Sampling in epidemiological research: issues, hazards and pitfalls

Science.gov (United States)

Tyrer, Stephen; Heyman, Bob

2016-01-01

Surveys of people's opinions are fraught with difficulties. It is easier to obtain information from those who respond to text messages or to emails than to attempt to obtain a representative sample. Samples of the population that are selected non-randomly in this way are termed convenience samples as they are easy to recruit. This introduces a sampling bias. Such non-probability samples have merit in many situations, but an epidemiological enquiry is of little value unless a random sample is obtained. If a sufficient number of those selected actually complete a survey, the results are likely to be representative of the population. This editorial describes probability and non-probability sampling methods and illustrates the difficulties and suggested solutions in performing accurate epidemiological research. PMID:27087985

Sub-Saharan centralized biorepository for genetic and genomic research.

Science.gov (United States)

Gasmelseed, Nagla; Elsir, Afrah Awad; Deblasio, Pasquale; Biunno, Ida

2012-04-15

Quality-assessed biomedical samples are essential for academia- and industry driven research on human diseases. The etiologies and the molecular genetic factors relevant in African diseases, including both infections and complex degenerative diseases as well as cancer, need to be studied using well annotated and well-preserved biosamples acquired from native African ethnic groups and compare the results with non-African populations and/or with Afro-Americans. However, a number of difficulties negatively impact on the possibility to obtain clinically annotated biological samples in most Sub-Saharan African countries. This is mainly due to major organizational problems, lack of clinical centres that can dedicate resources to research, as well as lack of facilities in which biomaterials can be properly processed and safely stored. Harmonization of biosample acquisition, storage phenotyping schemes and biocomputer infrastructures are the principal objectives of biological resource centers (BRCs). BRCs comprise biobanks of different formats (collection of blood, DNA, tissues, etc., annotated with medical, environmental, life-style and follow up data) a fundamental tool for molecular epidemiological studies aiming to increase excellence and efficacy of biomedical results, drug development and public health. BRCs provide large and highly controlled biomolecular resources necessary to meet the "omics" scientific platforms. Sudan may be a candidate nation to host such infrastructure, in view of its strategic geographical position and the already existing simple biobanking experiences connected with research groups in Central Sudan. Here, we describe the potential role of biobanks in African genetic studies aiming to dissect the eziopathogenesis of complex diseases in relation to environmental and life-style factors. Copyright © 2010 Elsevier B.V. All rights reserved.

Unravelling the Molecular Epidemiology and Genetic Diversity among Burkholderia pseudomallei Isolates from South India Using Multi-Locus Sequence Typing.

Science.gov (United States)

Tellapragada, Chaitanya; Kamthan, Aayushi; Shaw, Tushar; Ke, Vandana; Kumar, Subodh; Bhat, Vinod; Mukhopadhyay, Chiranjay

2016-01-01

There is a slow but steady rise in the case detection rates of melioidosis from various parts of the Indian sub-continent in the past two decades. However, the epidemiology of the disease in India and the surrounding South Asian countries remains far from well elucidated. Multi-locus sequence typing (MLST) is a useful epidemiological tool to study the genetic relatedness of bacterial isolates both with-in and across the countries. With this background, we studied the molecular epidemiology of 32 Burkholderia pseudomallei isolates (31 clinical and 1 soil isolate) obtained during 2006-2015 from various parts of south India using multi-locus sequencing typing and analysis. Of the 32 isolates included in the analysis, 30 (93.7%) had novel allelic profiles that were not reported previously. Sequence type (ST) 1368 (n = 15, 46.8%) with allelic profile (1, 4, 6, 4, 1, 1, 3) was the most common genotype observed. We did not observe a genotypic association of STs with geographical location, type of infection and year of isolation in the present study. Measure of genetic differentiation (FST) between Indian and the rest of world isolates was 0.14413. Occurrence of the same ST across three adjacent states of south India suggest the dispersion of B.pseudomallei across the south western coastal part of India with limited geographical clustering. However, majority of the STs reported from the present study remained as "outliers" on the eBURST "Population snapshot", suggesting the genetic diversity of Indian isolates from the Australasian and Southeast Asian isolates.

Unravelling the Molecular Epidemiology and Genetic Diversity among Burkholderia pseudomallei Isolates from South India Using Multi-Locus Sequence Typing.

Directory of Open Access Journals (Sweden)

Chaitanya Tellapragada

Full Text Available There is a slow but steady rise in the case detection rates of melioidosis from various parts of the Indian sub-continent in the past two decades. However, the epidemiology of the disease in India and the surrounding South Asian countries remains far from well elucidated. Multi-locus sequence typing (MLST is a useful epidemiological tool to study the genetic relatedness of bacterial isolates both with-in and across the countries. With this background, we studied the molecular epidemiology of 32 Burkholderia pseudomallei isolates (31 clinical and 1 soil isolate obtained during 2006-2015 from various parts of south India using multi-locus sequencing typing and analysis. Of the 32 isolates included in the analysis, 30 (93.7% had novel allelic profiles that were not reported previously. Sequence type (ST 1368 (n = 15, 46.8% with allelic profile (1, 4, 6, 4, 1, 1, 3 was the most common genotype observed. We did not observe a genotypic association of STs with geographical location, type of infection and year of isolation in the present study. Measure of genetic differentiation (FST between Indian and the rest of world isolates was 0.14413. Occurrence of the same ST across three adjacent states of south India suggest the dispersion of B.pseudomallei across the south western coastal part of India with limited geographical clustering. However, majority of the STs reported from the present study remained as "outliers" on the eBURST "Population snapshot", suggesting the genetic diversity of Indian isolates from the Australasian and Southeast Asian isolates.

Epidemiology and genetics of intracranial aneurysms

International Nuclear Information System (INIS)

Caranci, F.; Briganti, F.; Cirillo, L.; Leonardi, M.; Muto, M.

2013-01-01

Intracranial aneurysms are acquired lesions (5–10% of the population), a fraction of which rupture leading to subarachnoid hemorrhage with devastating consequences. Until now, the exact etiology of intracranial aneurysms formation remains unclear. The low incidence of subarachnoid hemorrhage in comparison with the prevalence of unruptured IAs suggests that the vast majority of intracranial aneurysms do not rupture and that identifying those at highest risk is important in defining the optimal management. The most important factors predicting rupture are aneurysm size and site. In addition to ambiental factors (smoking, excessive alcohol consumption and hypertension), epidemiological studies have demonstrated a familiar influence contributing to the pathogenesis of intracranial aneurysms, with increased frequency in first- and second-degree relatives of people with subarachnoid hemorrhage. In comparison to sporadic aneurysms, familial aneurysms tend to be larger, more often located at the middle cerebral artery, and more likely to be multiple. Other than familiar occurrence, there are several heritable conditions associated with intracranial aneurysm formation, including autosomal dominant polycystic kidney disease, neurofibromatosis type I, Marfan syndrome, multiple endocrine neoplasia type I, pseudoxanthoma elasticum, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II and IV. The familial occurrence and the association with heritable conditions indicate that genetic factors may play a role in the development of intracranial aneurysms. Genome-wide linkage studies in families and sib pairs with intracranial aneurysms have identified several loci on chromosomes showing suggestive evidence of linkage, particularly on chromosomes 1p34.3–p36.13, 7q11, 19q13.3, and Xp22. For the loci on 1p34.3–p36.13 and 7q11, a moderate positive association with positional candidate genes has been demonstrated (perlecan gene, elastin gene, collagen type 1 A2

Epidemiology and genetics of intracranial aneurysms

Energy Technology Data Exchange (ETDEWEB)

Caranci, F., E-mail: ferdinandocaranci@libero.it [Unit of Neuroradiology, Department of Diagnostic Radiology and Radiotherapy, Federico II University, Naples (Italy); Briganti, F., E-mail: frabriga@unina.it [Unit of Neuroradiology, Department of Diagnostic Radiology and Radiotherapy, Federico II University, Naples (Italy); Cirillo, L.; Leonardi, M. [Neuroradiology service, Bellaria Hospital, Bologna (Italy); Muto, M., E-mail: mutomar@tiscali.it [Neuroradiology Service Cardarelli Hospital Naples (Italy)

2013-10-01

Intracranial aneurysms are acquired lesions (5–10% of the population), a fraction of which rupture leading to subarachnoid hemorrhage with devastating consequences. Until now, the exact etiology of intracranial aneurysms formation remains unclear. The low incidence of subarachnoid hemorrhage in comparison with the prevalence of unruptured IAs suggests that the vast majority of intracranial aneurysms do not rupture and that identifying those at highest risk is important in defining the optimal management. The most important factors predicting rupture are aneurysm size and site. In addition to ambiental factors (smoking, excessive alcohol consumption and hypertension), epidemiological studies have demonstrated a familiar influence contributing to the pathogenesis of intracranial aneurysms, with increased frequency in first- and second-degree relatives of people with subarachnoid hemorrhage. In comparison to sporadic aneurysms, familial aneurysms tend to be larger, more often located at the middle cerebral artery, and more likely to be multiple. Other than familiar occurrence, there are several heritable conditions associated with intracranial aneurysm formation, including autosomal dominant polycystic kidney disease, neurofibromatosis type I, Marfan syndrome, multiple endocrine neoplasia type I, pseudoxanthoma elasticum, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II and IV. The familial occurrence and the association with heritable conditions indicate that genetic factors may play a role in the development of intracranial aneurysms. Genome-wide linkage studies in families and sib pairs with intracranial aneurysms have identified several loci on chromosomes showing suggestive evidence of linkage, particularly on chromosomes 1p34.3–p36.13, 7q11, 19q13.3, and Xp22. For the loci on 1p34.3–p36.13 and 7q11, a moderate positive association with positional candidate genes has been demonstrated (perlecan gene, elastin gene, collagen type 1 A2

Epidemiology program at the Savannah River Plant: a tiered approach to research

International Nuclear Information System (INIS)

Fayerweather, W.E.

1984-01-01

The epidemiology program at the Savannah River Plant (SRP) uses a tiered approach to research. As research progresses from lower through higher tiers, there is a corresponding increase in study complexity, cost, and time commitment. The approach provides a useful strategy for directing research efforts towards those employee subgroups and health endpoints that can benefit most from more in-depth studies. A variety of potential exposures, health endpoints, and employee subgroups have been and continued to be studied by research groups such as Oak Ridge Associated Universities, Los Alamos National Laboratories, Centers for Disease Control, SRP's Occupational Health Technology, and the Du Pont Company's corporate Epidemiology Section. These studies are discussed in the context of a tiered approach to research

Recent progress and future direction of cancer epidemiological research in Japan.

Science.gov (United States)

Sobue, Tomotaka

2015-06-01

In 2006, the Cancer Control Act was approved and a Basic Plan, to Promote the Cancer Control Program at the national level, was developed in 2007. Cancer research is recognized as a fundamental component to provide evidence in cancer control program. Cancer epidemiology plays central role in connecting research and policy, since it directly deals with data from humans. Research for cancer epidemiology in Japan made substantial progress, in the field of descriptive studies, cohort studies, intervention studies and activities for summarizing evidences. In future, promoting high-quality large-scale intervention studies, individual-level linkage studies, simulation models and studies for elderly population will be of great importance, but at the same time research should be promoted in well-balanced fashion not placing too much emphasis on one particular research field. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Molecular Epidemiology for Vector Research on Leishmaniasis

Science.gov (United States)

Kato, Hirotomo; Gomez, Eduardo A; Cáceres, Abraham G; Uezato, Hiroshi; Mimori, Tatsuyuki; Hashiguchi, Yoshihisa

2010-01-01

Leishmaniasis is a protozoan disease caused by the genus Leishmania transmitted by female phlebotomine sand flies. Surveillance of the prevalence of Leishmania and responsive vector species in endemic and surrounding areas is important for predicting the risk and expansion of the disease. Molecular biological methods are now widely applied to epidemiological studies of infectious diseases including leishmaniasis. These techniques are used to detect natural infections of sand fly vectors with Leishmania protozoa and are becoming powerful tools due to their sensitivity and specificity. Recently, genetic analyses have been performed on sand fly species and genotyping using PCR-RFLP has been applied to the sand fly taxonomy. In addition, a molecular mass screening method has been established that enables both sand fly species and natural leishmanial infections to be identified simultaneously in hundreds of sand flies with limited effort. This paper reviews recent advances in the study of sand flies, vectors of leishmaniasis, using molecular biological approaches. PMID:20617005

Molecular Epidemiology for Vector Research on Leishmaniasis

Directory of Open Access Journals (Sweden)

Hirotomo Kato

2010-03-01

Full Text Available Leishmaniasis is a protozoan disease caused by the genus Leishmania transmitted by female phlebotomine sand flies. Surveillance of the prevalence of Leishmania and responsive vector species in endemic and surrounding areas is important for predicting the risk and expansion of the disease. Molecular biological methods are now widely applied to epidemiological studies of infectious diseases including leishmaniasis. These techniques are used to detect natural infections of sand fly vectors with Leishmania protozoa and are becoming powerful tools due to their sensitivity and specificity. Recently, genetic analyses have been performed on sand fly species and genotyping using PCR-RFLP has been applied to the sand fly taxonomy. In addition, a molecular mass screening method has been established that enables both sand fly species and natural leishmanial infections to be identified simultaneously in hundreds of sand flies with limited effort. This paper reviews recent advances in the study of sand flies, vectors of leishmaniasis, using molecular biological approaches.

Molecular epidemiology for vector research on leishmaniasis.

Science.gov (United States)

Kato, Hirotomo; Gomez, Eduardo A; Cáceres, Abraham G; Uezato, Hiroshi; Mimori, Tatsuyuki; Hashiguchi, Yoshihisa

2010-03-01

Leishmaniasis is a protozoan disease caused by the genus Leishmania transmitted by female phlebotomine sand flies. Surveillance of the prevalence of Leishmania and responsive vector species in endemic and surrounding areas is important for predicting the risk and expansion of the disease. Molecular biological methods are now widely applied to epidemiological studies of infectious diseases including leishmaniasis. These techniques are used to detect natural infections of sand fly vectors with Leishmania protozoa and are becoming powerful tools due to their sensitivity and specificity. Recently, genetic analyses have been performed on sand fly species and genotyping using PCR-RFLP has been applied to the sand fly taxonomy. In addition, a molecular mass screening method has been established that enables both sand fly species and natural leishmanial infections to be identified simultaneously in hundreds of sand flies with limited effort. This paper reviews recent advances in the study of sand flies, vectors of leishmaniasis, using molecular biological approaches.

Genetic epidemiology, hematological and clinical features of hemoglobinopathies in Iran.

Science.gov (United States)

Rahimi, Zohreh

2013-01-01

There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, α-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iranians due to the presence of multiethnic groups in the country. β-Thalassemia is more prevalent in northern and southern Iran. Among 52 different β-thalassemia mutations that have been identified among Iranian populations, IVSII-1 G:A is the most frequent mutation in most parts of the country. The presence of IVS I-5 G:C mutation with high frequency in southeastern Iran might reflect gene flow from neighboring countries. A wide spectrum of α-thalassemia alleles has been detected among Iranians with -α(3.7 kb) as the most prevalent α-thalassemia mutation. The prevention program of thalassemia birth in Iran has reduced the birth rate of homozygous β-thalassemia since the implementation of the program in 1997. In this review genetic epidemiology, clinical and hematological aspects of hemoglobinopathies, and the prevention programs of β-thalassemia in Iran will be discussed.

Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

Directory of Open Access Journals (Sweden)

Zohreh Rahimi

2013-01-01

Full Text Available There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran and Kermanshah (western Iran provinces, respectively. Also, α-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iranians due to the presence of multiethnic groups in the country. β-Thalassemia is more prevalent in northern and southern Iran. Among 52 different β-thalassemia mutations that have been identified among Iranian populations, IVSII-1 G:A is the most frequent mutation in most parts of the country. The presence of IVS I-5 G:C mutation with high frequency in southeastern Iran might reflect gene flow from neighboring countries. A wide spectrum of α-thalassemia alleles has been detected among Iranians with as the most prevalent α-thalassemia mutation. The prevention program of thalassemia birth in Iran has reduced the birth rate of homozygous β-thalassemia since the implementation of the program in 1997. In this review genetic epidemiology, clinical and hematological aspects of hemoglobinopathies, and the prevention programs of β-thalassemia in Iran will be discussed.

Genetic relationships and epidemiological links between wild type 1 poliovirus isolates in Pakistan and Afghanistan.

Science.gov (United States)

Angez, Mehar; Shaukat, Shahzad; Alam, Muhammad M; Sharif, Salmaan; Khurshid, Adnan; Zaidi, Syed Sohail Zahoor

2012-02-22

Efforts have been made to eliminate wild poliovirus transmission since 1988 when the World Health Organization began its global eradication campaign. Since then, the incidence of polio has decreased significantly. However, serotype 1 and serotype 3 still circulate endemically in Pakistan and Afghanistan. Both countries constitute a single epidemiologic block representing one of the three remaining major global reservoirs of poliovirus transmission. In this study we used genetic sequence data to investigate transmission links among viruses from diverse locations during 2005-2007. In order to find the origins and routes of wild type 1 poliovirus circulation, polioviruses were isolated from faecal samples of Acute Flaccid Paralysis (AFP) patients. We used viral cultures, two intratypic differentiation methods PCR, ELISA to characterize as vaccine or wild type 1 and nucleic acid sequencing of entire VP1 region of poliovirus genome to determine the genetic relatedness. One hundred eleven wild type 1 poliovirus isolates were subjected to nucleotide sequencing for genetic variation study. Considering the 15% divergence of the sequences from Sabin 1, Phylogenetic analysis by MEGA software revealed that active inter and intra country transmission of many genetically distinct strains of wild poliovirus type 1 belonged to genotype SOAS which is indigenous in this region. By grouping wild type 1 polioviruses according to nucleotide sequence homology, three distinct clusters A, B and C were obtained with multiple chains of transmission together with some silent circulations represented by orphan lineages. Our results emphasize that there was a persistent transmission of wild type 1 polioviruses in Pakistan and Afghanistan during 2005-2007. The epidemiologic information provided by the sequence data can contribute to the formulation of better strategies for poliomyelitis control to those critical areas, associated with high risk population groups which include migrants

Genetic relationships and epidemiological links between wild type 1 poliovirus isolates in Pakistan and Afghanistan

Directory of Open Access Journals (Sweden)

Angez Mehar

2012-02-01

Full Text Available Abstract Background/Aim Efforts have been made to eliminate wild poliovirus transmission since 1988 when the World Health Organization began its global eradication campaign. Since then, the incidence of polio has decreased significantly. However, serotype 1 and serotype 3 still circulate endemically in Pakistan and Afghanistan. Both countries constitute a single epidemiologic block representing one of the three remaining major global reservoirs of poliovirus transmission. In this study we used genetic sequence data to investigate transmission links among viruses from diverse locations during 2005-2007. Methods In order to find the origins and routes of wild type 1 poliovirus circulation, polioviruses were isolated from faecal samples of Acute Flaccid Paralysis (AFP patients. We used viral cultures, two intratypic differentiation methods PCR, ELISA to characterize as vaccine or wild type 1 and nucleic acid sequencing of entire VP1 region of poliovirus genome to determine the genetic relatedness. Results One hundred eleven wild type 1 poliovirus isolates were subjected to nucleotide sequencing for genetic variation study. Considering the 15% divergence of the sequences from Sabin 1, Phylogenetic analysis by MEGA software revealed that active inter and intra country transmission of many genetically distinct strains of wild poliovirus type 1 belonged to genotype SOAS which is indigenous in this region. By grouping wild type 1 polioviruses according to nucleotide sequence homology, three distinct clusters A, B and C were obtained with multiple chains of transmission together with some silent circulations represented by orphan lineages. Conclusion Our results emphasize that there was a persistent transmission of wild type1 polioviruses in Pakistan and Afghanistan during 2005-2007. The epidemiologic information provided by the sequence data can contribute to the formulation of better strategies for poliomyelitis control to those critical areas

Parents' attitudes toward genetic research in autism spectrum disorder.

Science.gov (United States)

Johannessen, Jarle; Nærland, Terje; Bloss, Cinnamon; Rietschel, Marcella; Strohmaier, Jana; Gjevik, Elen; Heiberg, Arvid; Djurovic, Srdjan; Andreassen, Ole A

2016-04-01

Genetic research in autism spectrum disorder (ASD) is mainly performed in minors who are legally unable to provide consent. Thus, knowledge of the attitudes, fears, and expectations toward genetic research of the parents is important. Knowledge of the attitudes toward genetic research will improve cooperation between researchers and participants, and help establish confidence in ASD genetic research. The present study aimed to assess these attitudes. Questionnaire-based assessments of attitudes toward genetic research and toward procedures in genetic research of n=1455 parents of individuals with ASD were performed. The main motivation for participation in genetic research is to gain more knowledge of the causes and disease mechanisms of ASD (83.6%), and to contribute toward development of improved treatment in the future (63.7%). The parents also had a positive attitude towards storing genetic information (54.3%) and they requested confidentiality of data (82.9%) and expressed a need to be informed about the purpose (89%) and progress of the research (83.7%). We found a slightly more positive attitude to participation in genetic research among older parents (P=0.015), among fathers compared with mothers (P=0.01), among parents of girls compared with boys (P=0.03), and infantile autism compared with Asperger syndrome (P=0.002). However, linear regression analysis showed that parent and child characteristics seem to have too small an influence on attitudes toward genetic research to be of any relevance (R(2)=0.002-0.02). Parents of children with ASD have, in general, a very positive attitude toward genetic research. Data confidentiality is important, and they express a need for information on the purpose and progress of the research.

Epidemiología y genética: ¿alianza estratégica en el nuevo milenio? Epidemiology and genetics: a strategic alliance in the new millennium?

Directory of Open Access Journals (Sweden)

Gustavo Bergonzoli

2005-01-01

Full Text Available Although the information derived from biological markers could conceivably be used to overcome some of the problems intrinsic to virtually all epidemiologic study designs-case definition, true exposure level, host susceptibility and resistance to factors of interest, the misclassification of study subjects (false positive and false negative test results, etc.-, we are still unable to resolve all such problems with the tools available at present. Biological markers seem more promising as potential indicators of the degree of susceptibility than as indicators of disease occurrence, an application requiring further technical refinement. Currently biological markers are employed in public health mainly to screen for particular diseases. Unfortunately, these markers have their limitations. For one thing, it is unlikely that they will completely eliminate the problem of false positive and false negative results, since DNA from solid tumors undergoes slight degradation due to necrosis and since genetic markers are susceptible to the effects of exposure to medication, diet, sex, ethnicity, and even the circadian cycle. And even if false positives and negatives were ultimately eliminated, it would be impossible to use many of the analytical tools based on two by two tables, such as the chi squared test, logistic regression, the Poisson regression, Cox' proportional hazards ratio, etc., since such tools rely on comparisons of the number of false positives and negatives in the exposed and non-exposed groups. Finally, albeit no less important, certain ethical issues must be carefully considered before allowing the massive use of human genetic markers, which could lead to violations of the rights of individuals, families, and communities if carried out in an indiscriminate, unregulated fashion. Epidemiology is rapidly broadening its scope, a trend that will continue into the future; new analytical tools will be developed, and the working hypotheses to which

Current status and future prospects of epidemiology and public health training and research in the WHO African region

Science.gov (United States)

Nachega, Jean B; Uthman, Olalekan A; Ho, Yuh-Shan; Lo, Melanie; Anude, Chuka; Kayembe, Patrick; Wabwire-Mangen, Fred; Gomo, Exnevia; Sow, Papa Salif; Obike, Ude; Kusiaku, Theophile; Mills, Edward J; Mayosi, Bongani M; IJsselmuiden, Carel

2012-01-01

Background To date little has been published about epidemiology and public health capacity (training, research, funding, human resources) in WHO/AFRO to help guide future planning by various stakeholders. Methods A bibliometric analysis was performed to identify published epidemiological research. Information about epidemiology and public health training, current research and challenges was collected from key informants using a standardized questionnaire. Results From 1991 to 2010, epidemiology and public health research output in the WHO/AFRO region increased from 172 to 1086 peer-reviewed articles per annum [annual percentage change (APC) = 10.1%, P for trend Africa increased during the same period. However, an overwhelming majority of respondents (>90%) reported that this increase is only rarely linked to regional post-graduate training programmes in epidemiology. South Africa leads in publications (1978/8835, 22.4%), followed by Kenya (851/8835, 9.6%), Nigeria (758/8835, 8.6%), Tanzania (549/8835, 6.2%) and Uganda (428/8835, 4.8%) (P Africa). Independent predictors of relevant research productivity were ‘in-country numbers of epidemiology or public health programmes’ [incidence rate ratio (IRR) = 3.41; 95% confidence interval (CI) 1.90–6.11; P = 0.03] and ‘number of HIV/AIDS patients’ (IRR = 1.30; 95% CI 1.02–1.66; P < 0.001). Conclusions Since 1991, there has been increasing epidemiological research productivity in WHO/AFRO that is associated with the number of epidemiology programmes and burden of HIV/AIDS cases. More capacity building and training initiatives in epidemiology are required to promote research and address the public health challenges facing the continent. PMID:23283719

Biostatistics and epidemiology a primer for health and biomedical professionals

CERN Document Server

Wassertheil-Smoller, Sylvia

2015-01-01

Since the publication of the first edition, Biostatistics and Epidemiology has attracted loyal readers from across specialty areas in the biomedical community. Not only does this textbook teach foundations of epidemiological design and statistical methods, but it also includes topics applicable to new areas of research. Areas covered in the fourth edition include a new chapter on risk prediction, risk reclassification and evaluation of biomarkers, new material on propensity analyses, and a vastly expanded chapter on genetic epidemiology, which  is particularly relevant to those who wish to understand the epidemiological and statistical aspects of scientific articles in this rapidly advancing field. Biostatistics and Epidemiology was written to be accessible for readers without backgrounds in mathematics. It provides clear explanations of underlying principles, as well as practical guidelines of "how to do it" and "how to interpret it."a philosophical explanation of the logic of science, subsections that ...

Ethics, big data and computing in epidemiology and public health.

Science.gov (United States)

Salerno, Jennifer; Knoppers, Bartha M; Lee, Lisa M; Hlaing, WayWay M; Goodman, Kenneth W

2017-05-01

This article reflects on the activities of the Ethics Committee of the American College of Epidemiology (ACE). Members of the Ethics Committee identified an opportunity to elaborate on knowledge gained since the inception of the original Ethics Guidelines published by the ACE Ethics and Standards of Practice Committee in 2000. The ACE Ethics Committee presented a symposium session at the 2016 Epidemiology Congress of the Americas in Miami on the evolving complexities of ethics and epidemiology as it pertains to "big data." This article presents a summary and further discussion of that symposium session. Three topic areas were presented: the policy implications of big data and computing, the fallacy of "secondary" data sources, and the duty of citizens to contribute to big data. A balanced perspective is needed that provides safeguards for individuals but also furthers research to improve population health. Our in-depth review offers next steps for teaching of ethics and epidemiology, as well as for epidemiological research, public health practice, and health policy. To address contemporary topics in the area of ethics and epidemiology, the Ethics Committee hosted a symposium session on the timely topic of big data. Technological advancements in clinical medicine and genetic epidemiology research coupled with rapid advancements in data networks, storage, and computation at a lower cost are resulting in the growth of huge data repositories. Big data increases concerns about data integrity; informed consent; protection of individual privacy, confidentiality, and harm; data reidentification; and the reporting of faulty inferences. Copyright © 2017 Elsevier Inc. All rights reserved.

A pilot study: research poster presentations as an educational tool for undergraduate epidemiology students

Directory of Open Access Journals (Sweden)

Deonandan R

2013-09-01

Full Text Available Raywat Deonandan, James Gomes, Eric Lavigne, Thy Dinh, Robert Blanchard Interdisciplinary School of Health Sciences, University of Ottawa, Ottawa, ON, Canada Abstract: Students in a fourth year epidemiology course were surveyed after participating in a formal Science Research Day in which they presented original research, in poster form, to be judged by scientists from the community. Of 276 participating students, 80 (29% responded to the study survey. As a result, 19% of respondents were more likely to pursue a career in science, and 27.5% were more likely to pursue a career in epidemiology. Only one respondent reported being less likely to pursue a science career, while seven were less likely to pursue epidemiology. A majority of respondents felt that the poster experience was on par with, or superior to, a comparable research paper, in terms of both educational appeal and enjoyment. Mandatory, formal poster presentations are an innovative format for teaching advanced health sciences, and may more accurately reflect the realities of a science career than do more traditional educational formats. Keywords: epidemiology, education, undergraduate, research–teaching nexus

Consensus statement on genetic research in dementia

DEFF Research Database (Denmark)

Rikkert, M.G. Olde; der, V van; Burns, A.

2008-01-01

In this article, the authors describe how the European Dementia Consensus Network developed a consensus on research ethics in dementia, taking into account the questions posed by the era of genetic research and its new research methods. The consensus process started with a Delphi procedure...... to analyze relevant stakeholders' positions by describing their statements on the possibilities and limitations of research into genetic determinants of Alzheimer disease and to describe and analyze the moral desirability of genetic research on Alzheimer disease. The conclusions drawn from the Delphi...... procedure fuelled the development of the consensus statement, which is presented in this paper. The consensus statement aims to stimulate ethically acceptable research in the field of dementia and the protection of vulnerable elderly patients with dementia from application of inadequate research methods...

Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.

Science.gov (United States)

Black, Holly A; Leighton, Danielle J; Cleary, Elaine M; Rose, Elaine; Stephenson, Laura; Colville, Shuna; Ross, David; Warner, Jon; Porteous, Mary; Gorrie, George H; Swingler, Robert; Goldstein, David; Harms, Matthew B; Connick, Peter; Pal, Suvankar; Aitman, Timothy J; Chandran, Siddharthan

2017-03-01

Genetic understanding of motor neuron disease (MND) has evolved greatly in the past 10 years, including the recent identification of association between MND and variants in TBK1 and NEK1. Our aim was to determine the frequency of pathogenic variants in known MND genes and to assess whether variants in TBK1 and NEK1 contribute to the burden of MND in the Scottish population. SOD1, TARDBP, OPTN, TBK1, and NEK1 were sequenced in 441 cases and 400 controls. In addition to 44 cases known to carry a C9orf72 hexanucleotide repeat expansion, we identified 31 cases and 2 controls that carried a loss-of-function or pathogenic variant. Loss-of-function variants were found in TBK1 in 3 cases and no controls and, separately, in NEK1 in 3 cases and no controls. This study provides an accurate description of the genetic epidemiology of MND in Scotland and provides support for the contribution of both TBK1 and NEK1 to MND susceptibility in the Scottish population. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

An ontologically founded architecture for information systems in clinical and epidemiological research.

Science.gov (United States)

Uciteli, Alexandr; Groß, Silvia; Kireyev, Sergej; Herre, Heinrich

2011-08-09

This paper presents an ontologically founded basic architecture for information systems, which are intended to capture, represent, and maintain metadata for various domains of clinical and epidemiological research. Clinical trials exhibit an important basis for clinical research, and the accurate specification of metadata and their documentation and application in clinical and epidemiological study projects represents a significant expense in the project preparation and has a relevant impact on the value and quality of these studies.An ontological foundation of an information system provides a semantic framework for the precise specification of those entities which are presented in this system. This semantic framework should be grounded, according to our approach, on a suitable top-level ontology. Such an ontological foundation leads to a deeper understanding of the entities of the domain under consideration, and provides a common unifying semantic basis, which supports the integration of data and the interoperability between different information systems.The intended information systems will be applied to the field of clinical and epidemiological research and will provide, depending on the application context, a variety of functionalities. In the present paper, we focus on a basic architecture which might be common to all such information systems. The research, set forth in this paper, is included in a broader framework of clinical research and continues the work of the IMISE on these topics.

Development of a combined database for meta-epidemiological research

DEFF Research Database (Denmark)

Savović, Jelena; Harris, Ross J; Wood, Lesley

2010-01-01

or review. Unique identifiers were assigned to each reference and used to identify duplicate trials. Sets of meta-analyses with overlapping trials were identified and duplicates removed. Overlapping trials were used to examine agreement between assessments of trial characteristics. The combined database...... database will be used to examine the combined evidence on sources of bias in randomized controlled trials. The strategy used to remove overlap between meta-analyses may be of use for future empirical research. Copyright © 2010 John Wiley & Sons, Ltd.......Collections of meta-analyses assembled in meta-epidemiological studies are used to study associations of trial characteristics with intervention effect estimates. However, methods and findings are not consistent across studies. To combine data from 10 meta-epidemiological studies into a single...

New research progress on the epidemiology of age-related macular degeneration

Directory of Open Access Journals (Sweden)

Ming-Xing Wu

2015-02-01

Full Text Available Age-related macular degeneration(AMDis a kind of age-related blinding degenerative fundus lesions, totally about 30 million patients suffering from AMD all over the world, with about 500 000 people blind for it yearly. As the development of economy and the aging of the population intensified, incidence of AMD indicates a trend of rising year by year, being the third major cause of blindness in our country. At present, the pathogenesis of AMD is not fully clear, as reported it may be related to oxidative stress, inflammatory immune response, VEGF and genetic manipulation. Clinical treatments mainly include photodynamic therapy, drug therapy, radiation therapy, laser photocoagulaory operation, the pupil warm treatments, Chinese medicine and intravitreous injection VEGF antagonists such as Ranibizumab, Conbercept and so on. In this issue, we mainly expound on the progress in the epidemiological studies of AMD, especially elaborate the progress made on genetic manipulation in recent years.

Epidemiology of brain tumors in childhood--a review

International Nuclear Information System (INIS)

Baldwin, Rachel Tobias; Preston-Martin, Susan

2004-01-01

Malignant brain tumors are the leading cause of cancer death among children and the second most common type of pediatric cancer. Despite several decades of epidemiologic investigation, the etiology of childhood brain tumors (CBT) is still largely unknown. A few genetic syndromes and ionizing radiation are established risk factors. Many environmental exposures and infectious agents have been suspected of playing a role in the development of CBT. This review, based on a search of the medical literature through August 2003, summarizes the epidemiologic evidence to date. The types of exposures discussed include ionizing radiation, N-nitroso compounds (NOC), pesticides, tobacco smoke, electromagnetic frequencies (EMF), infectious agents, medications, and parental occupational exposures. We have chosen to focus on perinatal exposures and review some of the recent evidence indicating that such exposures may play a significant role in the causation of CBT. The scientific community is rapidly learning more about the molecular mechanisms by which carcinogenesis occurs and how the brain develops. We believe that advances in genetic and molecular biologic technology, including improved histologic subtyping of tumors, will be of huge importance in the future of epidemiologic research and will lead to a more comprehensive understanding of CBT etiology. We discuss some of the early findings using these technologies

Rationale for an integrated approach to genetic epidemiology.

Science.gov (United States)

Laberge, Claude M; Knoppers, Bartha Maria

1992-10-01

Genetic knowledge is now in the public domain and its interpretation by the media and the citizens brings the issues into the public forum of discussion for the necessary ethical, legal and socio-cultural evaluation of its application. Science is being perceived by some as dangerous and as requiring international regulation. Others feel that genetic knowledge will be the breakthrough that will permit medical progress and individual autonomy with regards to personal health and lifestyle choices. The mapping of the human genome has already yielded valuable information on an increasing number of diseases and their variants. Prevailing popular and journalistic archetypes ("imaginaires") used in the media are perceived by the producers as slowing down the possible application of genetic knowledge. The answers to these dilemmas are not readily apparent nor are they prescribed by classical philosophy of medicine. Since genetic knowledge eventually resides with the individual who carries the genes of disease and/or susceptibility, a logical approach to integration of this knowledge at a societal level would seem to reside with individual education and decision-making. The politics of the ensuing social debate could transform the current social contract since an individual's interests need to be balanced against those of his or her immediate family in the sharing of information. The ethical foundations of such a contract requires the genetic education of "Everyone" as a matter of urgent priority. Genetic education should not serve ideological power struggles between the medical establishment and the ethical-legal alliance. Instead, it should ensure the transfer of knowledge to physicians, to patients, to users, to planners, to social science and humanities researchers and to politicians, so that they may make "informed" and free decisions....

Genetic Testing and Its Implications: Human Genetics Researchers Grapple with Ethical Issues.

Science.gov (United States)

Rabino, Isaac

2003-01-01

Contributes systematic data on the attitudes of scientific experts who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. Finds that they are highly supportive of voluntary testing and the right to know one's genetic heritage. Calls for greater genetic literacy. (Contains 87 references.) (Author/NB)

Web tools for molecular epidemiology of tuberculosis.

Science.gov (United States)

Shabbeer, Amina; Ozcaglar, Cagri; Yener, Bülent; Bennett, Kristin P

2012-06-01

In this study we explore publicly available web tools designed to use molecular epidemiological data to extract information that can be employed for the effective tracking and control of tuberculosis (TB). The application of molecular methods for the epidemiology of TB complement traditional approaches used in public health. DNA fingerprinting methods are now routinely employed in TB surveillance programs and are primarily used to detect recent transmissions and in outbreak investigations. Here we present web tools that facilitate systematic analysis of Mycobacterium tuberculosis complex (MTBC) genotype information and provide a view of the genetic diversity in the MTBC population. These tools help answer questions about the characteristics of MTBC strains, such as their pathogenicity, virulence, immunogenicity, transmissibility, drug-resistance profiles and host-pathogen associativity. They provide an integrated platform for researchers to use molecular epidemiological data to address current challenges in the understanding of TB dynamics and the characteristics of MTBC. Copyright © 2011. Published by Elsevier B.V.

Molecular Epidemiology and Genetic Variation of Pathogenic Vibrio parahaemolyticus in Peru

Science.gov (United States)

Gavilan, Ronnie G.; Zamudio, Maria L.; Martinez-Urtaza, Jaime

2013-01-01

Vibrio parahaemolyticus is a foodborne pathogen that has become a public health concern at the global scale. The epidemiological significance of V. parahaemolyticus infections in Latin America received little attention until the winter of 1997 when cases related to the pandemic clone were detected in the region, changing the epidemic dynamics of this pathogen in Peru. With the aim to assess the impact of the arrival of the pandemic clone on local populations of pathogenic V. parahaemolyticus in Peru, we investigated the population genetics and genomic variation in a complete collection of non-pandemic strains recovered from clinical sources in Peru during the pre- and post-emergence periods of the pandemic clone. A total of 56 clinical strains isolated in Peru during the period 1994 to 2007, 13 strains from Chile and 20 strains from Asia were characterized by Multilocus Sequence Typing (MLST) and checked for the presence of Variable Genomic Regions (VGRs). The emergence of O3:K6 cases in Peru implied a drastic disruption of the seasonal dynamics of infections and a shift in the serotype dominance of pathogenic V. parahaemolyticus. After the arrival of the pandemic clone, a great diversity of serovars not previously reported was detected in the country, which supports the introduction of additional populations cohabitating with the pandemic group. Moreover, the presence of genomic regions characteristic of the pandemic clone in other non-pandemic strains may represent early evidence of genetic transfer from the introduced population to the local communities. Finally, the results of this study stress the importance of population admixture, horizontal genetic transfer and homologous recombination as major events shaping the structure and diversity of pathogenic V. parahaemolyticus. PMID:23696906

African Americans' opinions about human-genetics research.

Science.gov (United States)

Achter, Paul; Parrott, Roxanne; Silk, Kami

2004-03-01

Research on attitudes toward genetics and medicine registers skepticism among minority communities, but the reasons for this skepticism are not well known. In the past, studies linked mistrust of the medical system to historical ethics violations involving minority groups and to suspicions about ideological premise and political intent. To assess public knowledge, attitudes, and behavior regarding human-genetics research, we surveyed 858 Americans onsite in four community settings or online in a geographically nonspecific manner. Compared to participants as a whole, African Americans were significantly more likely to believe that clinical trials might be dangerous and that the federal government knowingly conducted unethical research, including studies in which risky vaccines were administered to prison populations. However, African Americans were also significantly more likely to believe that the federal government worked to prevent environmental exposure to toxicants harmful to people with genetic vulnerabilities. Our data suggest that most Americans trust government to act ethically in sponsoring and conducting research, including genetics research, but that African Americans are particularly likely to see government as powerfully protective in some settings yet selectively disingenuous in others.

[About twins: Epidemiological, genetic, and obstetrical aspects, specific risks, and outcome].

Science.gov (United States)

Tauzin, M; Felix, A; Michot, C; Dedieu, C; Aoust, L; Fortas, F; Guillier, C; Ngo, J; Wachter, P-Y; Petermann, L; Kermorvant-Duchemin, E

2017-12-01

The incidence of twin pregnancies has increased steadily for the last 40 years due to assisted reproductive technology and increased maternal childbearing age. Multiple pregnancies, especially monochorionic twin pregnancies, carry a high risk for the mother and the fetuses and require close follow-up. Twins are exposed to a higher risk of perinatal anoxia, in utero fetal demise, preterm birth, congenital malformations, fetal growth restriction, and vascular complications. Compared to singletons, twins are at higher risk of perinatal mortality and impaired neurodevelopmental outcome, justifying a thorough follow-up by pediatricians, including assessment and management of familial and psychosocial impact. This paper discusses the epidemiological, obstetrical, and genetic issues raised by twin pregnancies and reviews the data on the perinatal and neurological long-term outcomes of twins, as well as the psychosocial impact of multiple births on twins and their families. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Genetic Contributions to Clinical Pain and Analgesia: Avoiding Pitfalls in Genetic Research

Science.gov (United States)

Kim, Hyungsuk; Clark, David; Dionne, Raymond A.

2010-01-01

Understanding the genetic basis of human variations in pain is critical to elucidating the molecular basis of pain sensitivity, variable responses to analgesic drugs, and, ultimately, to individualized treatment of pain and improved public health. With the help of recently accumulated knowledge and advanced technologies, pain researchers hope to gain insight into genetic mechanisms of pain and eventually apply this knowledge to pain treatment. Perspective We critically reviewed the published literature to examine the strength of evidence supporting genetic influences on clinical and human experimental pain. Based on this evidence and the experience of false associations that have occurred in other related disciplines, we provide recommendations for avoiding pitfalls in pain genetic research. PMID:19559388

Privacy and policy for genetic research.

Science.gov (United States)

DeCew, Judith Wagner

2004-01-01

I begin with a discussion of the value of privacy and what we lose without it. I then turn to the difficulties of preserving privacy for genetic information and other medical records in the face of advanced information technology. I suggest three alternative public policy approaches to the problem of protecting individual privacy and also preserving databases for genetic research: (1) governmental guidelines and centralized databases, (2) corporate self-regulation, and (3) my hybrid approach. None of these are unproblematic; I discuss strengths and drawbacks of each, emphasizing the importance of protecting the privacy of sensitive medical and genetic information as well as letting information technology flourish to aid patient care, public health and scientific research.

[Genetic subtype and epidemiological feature of HIV-1 circulating strains among recently infected patients in Fujian province].

Science.gov (United States)

Deng, Yongyue; Zhang, Chunyang; Yan, Yansheng; Yan, Pingping; Wu, Shouli

2014-06-01

In order to evaluate the distribution of genetic subtypes and epidemiological feature of HIV-1 circulating strains in Fujian province. Blood samples and epidemiological data were collected from 104 newly infected patients who were distinguished by BED-CEIA methodology, during 2011-2012. Viral sequences(n = 81) of HIV-1 gag, env, and pol segments were amplified by nested PCR. Subtypes B and four Circulating Recombinant Forms, (CRF01_AE, CRF07_BC, CRF08_BC and CRF55_01B) were found in the samples, CRF01_AE(45.68%)and CRF07_BC(35.80%) were the two main HIV-1 strains in Fujian province. Compared with previous data, the proportion of CRF07_BC rose significantly while it gradually decreased in CRF01_AE. Heterosexual contact was still the principal transmission route in Fujian province, but the number of infection among men-who-have-sex-with- men grew rapidly. Results from this study suggested that different subtypes of HIV-1 strain existed in Fujian province. The distribution of subtypes and the mode of transmission were changing with the progress of epidemic. Dynamic monitoring of the molecular epidemiology trends of HIV-1 infection should be enhanced.

Review of epidemiological studies of human populations exposed to ionizing radiation

International Nuclear Information System (INIS)

Rao, B.S.

2002-01-01

Epidemiological studies undertaken in many radiation exposed cohorts have played an important role in the quantification of radiation risk. Follow up of nearly 100,000 A-bomb survivors by the Radiation Effects Research Foundation (RERF), constitutes the most comprehensive human epidemiological study. The study population covered both sexes, different age groups and dose ranges from a few mSv to 2-3 Sv. Among nearly 90,000 cohorts, as on 1990, 54% are alive. Among these, 35,000 are those exposed as children at the age<20 years. Nearly 20 % of the mortalities (8,040) were due to cancer. It was estimated from the analysis of these data that among the cancers observed in LSS cohorts, 425±45 cases (335 solid cancers+90 leukaemias) were attributable to radiation exposure. Assuming a value of two for DDREF, ICRP 60, 1991 estimated a cancer risk of 5% per Sv for low dose and low dose rate exposure conditions. There have been a number of efforts to study the human populations exposed to low level radiations. Epidemiological studies on nuclear workers from USA, UK and Canada constituting 95,673 workers spanning 2,124,526 person years was reported by Cardis et al. (1995). Total number of deaths were 15,825, of which 3,976 were cancer mortalities. The excess relative risk for all cancers excluding leukaemia is -0.07 per Sv (-0.4- +0.3) and for leukaemia (excluding CLL) is 2.18 (0.1-5.7). Epidemiological studies in high background radiation areas (HBRA) of Yangjiang, China and coastal Kerala showed no detectable increase in the incidence of cancers or of any genetic disorders. Epidemiological studies in human populations exposed to elevated background radiation for several generations did not show any increase in the genetic disorders. Recent information on the background incidence of monogenic disorders in human populations and the recoverability factor of induced genetic changes suggests a risk much lower than the earlier ICRP estimates. Many other epidemiological studies of

Genetic epidemiology of Scheuermann's disease

DEFF Research Database (Denmark)

Damborg, Frank; Engell, Vilhelm; Nielsen, Jan

2011-01-01

The genetic/environmental etiology of Scheuermann's disease is unclear. We estimated the heritability of the disease using an etiological model adjusted for sex and time of diagnosis, and examined whether the prevalence of Scheuermann's disease was constant over time.......The genetic/environmental etiology of Scheuermann's disease is unclear. We estimated the heritability of the disease using an etiological model adjusted for sex and time of diagnosis, and examined whether the prevalence of Scheuermann's disease was constant over time....

Genetic Diversity in Natural Populations of New World Leishmania

Directory of Open Access Journals (Sweden)

Cupolillo Elisa

1998-01-01

Full Text Available Our results have shown the wide diversity of parasites within New World Leishmania. Biochemical and molecular characterization of species within the genus has revealed that much of the population heterogeneity has a genetic basis. The source of genetic diversity among Leishmania appears to arise from predominantly asexual, clonal reproduction, although occasional bouts of sexual reproduction can not be ruled out. Genetic variation is extensive with some clones widely distributed and others seemingly unique and localized to a particular endemic focus. Epidemiological studies of leishmaniasis has been directed to the ecology and dynamics of transmission of Leishmania species/variants, particularly in localized areas. Future research using molecular techniques should aim to identify and follow Leishmania types in nature and correlate genetic typing with important clinical characteristics such as virulence, pathogenicity, drug resistance and antigenic variation. The epidemiological significance of such variation not only has important implications for the control of the leishmaniases, but would also help to elucidate the evolutionary biology of the causative agents.

Global foot-and-mouth disease research update and gap analysis: 2 - epidemiology, wildlife and economics

Science.gov (United States)

In 2014, the Global Foot-and-mouth disease Research ings in the fields of (i) epidemiology, (ii) wildlife and (iii) Alliance (GFRA) conducted a gap analysis of foot-and- economics. Although the three sections, epidemiology, wildlife and economics are presented as separate entities, the fields are ...

Genetic factors and molecular mechanisms in dry eye disease.

Science.gov (United States)

Lee, Ling; Garrett, Qian; Flanagan, Judith; Chakrabarti, Subhabrata; Papas, Eric

2018-04-01

Dry eye disease (DED) is a complex condition with a multifactorial etiology that can be difficult to manage successfully. While external factors are modifiable, treatment success is limited if genetic factors contribute to the disease. The purpose of this review is to compile research describing normal and abnormal ocular surface function on a molecular level, appraise genetic studies involving DED or DED-associated diseases, and introduce the basic methods used for conducting genetic epidemiology studies. Copyright © 2018 Elsevier Inc. All rights reserved.

An attempt to develop a database for epidemiological research in Semipalatinsk

International Nuclear Information System (INIS)

Katayama, Hiroaki; Apsalikov, K.N.; Gusev, B.I.; Galich, B.; Madieva, M.; Koshpessova, G.; Abdikarimova, A.; Hoshi, Masaharu

2006-01-01

The present paper reports progress and problems in our development of a database for comprehensive epidemiological research in Semipalatinsk whose ultimate aim is to examine the effects of low dose radiation exposure on the human body. The database was constructed and set up at the Scientific Research Institute of Radiation Medicine Ecology in 2003, and the number of data entries into the database reached 110,000 on 31 January 2005. However, we face some problems concerning size, accuracy and reliability of data which hinder full epidemiological analysis. Firstly we need fuller bias free data. The second task is to establish a committee for a discussion of the analysis, which should be composed of statisticians and epidemiologists, to conduct a research project from a long-term perspective, and carry out the collection of data effectively, along the lines of the project. Due to the insufficiency of data collected so far, our analysis is limited to showing the trends in mortality rates in the high and low dose areas. (author)

Genetics in eating disorders: extending the boundaries of research

Directory of Open Access Journals (Sweden)

Andréa Poyastro Pinheiro

2006-09-01

Full Text Available OBJECTIVE: To review the recent literature relevant to genetic research in eating disorders and to discuss unique issues which are crucial for the development of a genetic research project in eating disorders in Brazil. METHOD: A computer literature review was conducted in the Medline database between 1984 and may 2005 with the search terms "eating disorders", "anorexia nervosa", "bulimia nervosa", "binge eating disorder", "family", "twin" and "molecular genetic" studies. RESULTS: Current research findings suggest a substantial influence of genetic factors on the liability to anorexia nervosa and bulimia nervosa. Genetic research with admixed populations should take into consideration sample size, density of genotyping and population stratification. Through admixture mapping it is possible to study the genetic structure of admixed human populations to localize genes that underlie ethnic variation in diseases or traits of interest. CONCLUSIONS: The development of a major collaborative genetics initiative of eating disorders in Brazil and South America would represent a realistic possibility of studying the genetics of eating disorders in the context of inter ethnic groups, and also integrate a new perspective on the biological etiology of eating disorders.

Incorporating microbiota data into epidemiologic models: examples from vaginal microbiota research.

Science.gov (United States)

van de Wijgert, Janneke H; Jespers, Vicky

2016-05-01

Next generation sequencing and quantitative polymerase chain reaction technologies are now widely available, and research incorporating these methods is growing exponentially. In the vaginal microbiota (VMB) field, most research to date has been descriptive. The purpose of this article is to provide an overview of different ways in which next generation sequencing and quantitative polymerase chain reaction data can be used to answer clinical epidemiologic research questions using examples from VMB research. We reviewed relevant methodological literature and VMB articles (published between 2008 and 2015) that incorporated these methodologies. VMB data have been analyzed using ecologic methods, methods that compare the presence or relative abundance of individual taxa or community compositions between different groups of women or sampling time points, and methods that first reduce the complexity of the data into a few variables followed by the incorporation of these variables into traditional biostatistical models. To make future VMB research more clinically relevant (such as studying associations between VMB compositions and clinical outcomes and the effects of interventions on the VMB), it is important that these methods are integrated with rigorous epidemiologic methods (such as appropriate study designs, sampling strategies, and adjustment for confounding). Crown Copyright © 2016. Published by Elsevier Inc. All rights reserved.

Postinfectious Functional Gastrointestinal Disorders: A Focus on Epidemiology and Research Agendas

OpenAIRE

Deising, Adam; Gutierrez, Ramiro L.; Porter, Chad K.; Riddle, Mark S.

2013-01-01

Epidemiologic research is fundamental and complementary to our understanding of disease and development of primary, secondary, and tertiary interventions. To put the current evidence into context and identify gaps and research priorities in the areas of disease attribution, burden of disease, clinical characterization, and management of postinfectious functional gastrointestinal disorders (PI-FGDs), we took a multidisciplinary approach from the domains of infectious disease, gastroenterology,...

Fertility and pregnancy: an epidemiologic perspective

National Research Council Canada - National Science Library

Wilcox, Allen J

2010-01-01

.... Weaving together history, biology, obstetrics, pediatrics, demography, infectious diseases, molecular genetics, and evolutionary biology, Allen Wilcox brings a fresh coherence to the epidemiologic...

Molecular genetic researches on the radiation genetics of Drosophila in JINR

International Nuclear Information System (INIS)

Afanas'eva, K.P.; Aleksandrova, M.V.; Aleksandrov, I.D.

2016-01-01

Molecular genetic studies of radiation-induced heritable DNA lesions are carried out by the genetic group of Laboratory of nuclear problem in Joint Institute for Nuclear Research. The first results of molecular analysis of γ –ray- and neutron-induced vestigial mutations using PCR and sequencing will be presented. (authors)

Epidemiology of subtypes of depression

DEFF Research Database (Denmark)

Kessing, L V

2007-01-01

depression, dysthymia, and subsyndromal states; the association between stressful life events and depression appears to diminish with the number of depressive episodes. Finally, recent genetic findings are congruent with a model indicating that the majority of depressions develop in the interplay between...... genes and stressful experiences, whereas 'reactive' depressions and 'endogenous' depressions apparently exist at a lower prevalence. CONCLUSION: Further longitudinal, analytical, and genetic epidemiologic studies are needed to reveal which conditions are mild and transient, and which may be precursors......OBJECTIVE: There is a general clinical impression that depression differs qualitatively from non-depressive conditions, and that it can be identified as a categorical entity. In contrast, epidemiological studies support the view that depression is dynamic in nature and develops on a continuous...

Genetic studies of the Roma (Gypsies: a review

Directory of Open Access Journals (Sweden)

Gresham David

2001-04-01

Full Text Available Abstract Background Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies who live in Europe today are best described as a conglomerate of genetically isolated founder populations. The relationship between the traditional social structure observed by the Roma, where the Group is the primary unit, and the boundaries, demographic history and biological relatedness of the diverse founder populations appears complex and has not been addressed by population genetic studies. Results Recent medical genetic research has identified a number of novel, or previously known but rare conditions, caused by private founder mutations. A summary of the findings, provided in this review, should assist diagnosis and counselling in affected families, and promote future collaborative research. The available incomplete epidemiological data suggest a non-random distribution of disease-causing mutations among Romani groups. Conclusion Although far from systematic, the published information indicates that medical genetics has an important role to play in improving the health of this underprivileged and forgotten people of Europe. Reported carrier rates for some Mendelian disorders are in the range of 5 -15%, sufficient to justify newborn screening and early treatment, or community-based education and carrier testing programs for disorders where no therapy is currently available. To be most productive, future studies of the epidemiology of single gene disorders should take social organisation and cultural anthropology into consideration, thus allowing the targeting of public health programs and contributing to the understanding of population structure and demographic history of the Roma.

An Exploration of Attitudes Among Black Americans Towards Psychiatric Genetic Research

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Murphy, Eleanor; Thompson, Azure

2011-01-01

With increasing emphasis on understanding genetic contribution to disease, inclusion of all racial and ethnic groups in molecular genetic research is necessary to ensure parity in distribution of research benefits. Blacks are underrepresented in large-scale genetic studies of psychiatric disorders. In an effort to understand the reasons for the underrepresentation, this study explored black participants’ attitudes towards genetic research of psychiatric disorders. Twenty-six adults, the majority of whom were black (n = 18) were recruited from a New York City community to participate in six 90-minute focus groups. This paper reports findings about respondents’ understanding of genetics and genetic research, and opinions about psychiatric genetic research. Primary themes revealed participants’ perceived lack of knowledge about genetics, concerns about potentially harmful study procedures, and confidentiality surrounding mental illness in families. Participation incentives included provision of treatment or related service, monetary compensation, and reporting of results to participants. These findings suggest that recruitment of subjects into genetic studies should directly address procedures, privacy, benefits and follow-up with results. Further, there is critical need to engage communities with education about genetics and mental illness, and provide opportunities for continued discussion about concerns related to genetic research. PMID:19614555

Strategies to work with HLA data in human populations for histocompatibility, clinical transplantation, epidemiology and population genetics: HLA-NET methodological recommendations.

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Sanchez-Mazas, A; Vidan-Jeras, B; Nunes, J M; Fischer, G; Little, A-M; Bekmane, U; Buhler, S; Buus, S; Claas, F H J; Dormoy, A; Dubois, V; Eglite, E; Eliaou, J F; Gonzalez-Galarza, F; Grubic, Z; Ivanova, M; Lie, B; Ligeiro, D; Lokki, M L; da Silva, B Martins; Martorell, J; Mendonça, D; Middleton, D; Voniatis, D Papioannou; Papasteriades, C; Poli, F; Riccio, M E; Vlachou, M Spyropoulou; Sulcebe, G; Tonks, S; Nevessignsky, M Toungouz; Vangenot, C; van Walraven, A-M; Tiercy, J-M

2012-12-01

HLA-NET (a European COST Action) aims at networking researchers working in bone marrow transplantation, epidemiology and population genetics to improve the molecular characterization of the HLA genetic diversity of human populations, with an expected strong impact on both public health and fundamental research. Such improvements involve finding consensual strategies to characterize human populations and samples and report HLA molecular typings and ambiguities; proposing user-friendly access to databases and computer tools and defining minimal requirements related to ethical aspects. The overall outcome is the provision of population genetic characterizations and comparisons in a standard way by all interested laboratories. This article reports the recommendations of four working groups (WG1-4) of the HLA-NET network at the mid-term of its activities. WG1 (Population definitions and sampling strategies for population genetics' analyses) recommends avoiding outdated racial classifications and population names (e.g. 'Caucasian') and using instead geographic and/or cultural (e.g. linguistic) criteria to describe human populations (e.g. 'pan-European'). A standard 'HLA-NET POPULATION DATA QUESTIONNAIRE' has been finalized and is available for the whole HLA community. WG2 (HLA typing standards for population genetics analyses) recommends retaining maximal information when reporting HLA typing results. Rather than using the National Marrow Donor Program coding system, all ambiguities should be provided by listing all allele pairs required to explain each genotype, according to the formats proposed in 'HLA-NET GUIDELINES FOR REPORTING HLA TYPINGS'. The group also suggests taking into account a preliminary list of alleles defined by polymorphisms outside the peptide-binding sites that may affect population genetic statistics because of significant frequencies. WG3 (Bioinformatic strategies for HLA population data storage and analysis) recommends the use of programs capable

Spatial evolutionary epidemiology of spreading epidemics.

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Lion, S; Gandon, S

2016-10-26

Most spatial models of host-parasite interactions either neglect the possibility of pathogen evolution or consider that this process is slow enough for epidemiological dynamics to reach an equilibrium on a fast timescale. Here, we propose a novel approach to jointly model the epidemiological and evolutionary dynamics of spatially structured host and pathogen populations. Starting from a multi-strain epidemiological model, we use a combination of spatial moment equations and quantitative genetics to analyse the dynamics of mean transmission and virulence in the population. A key insight of our approach is that, even in the absence of long-term evolutionary consequences, spatial structure can affect the short-term evolution of pathogens because of the build-up of spatial differentiation in mean virulence. We show that spatial differentiation is driven by a balance between epidemiological and genetic effects, and this quantity is related to the effect of kin competition discussed in previous studies of parasite evolution in spatially structured host populations. Our analysis can be used to understand and predict the transient evolutionary dynamics of pathogens and the emergence of spatial patterns of phenotypic variation. © 2016 The Author(s).

El papel de la epidemiología en la investigación de los trastornos mentales The role of epidemiology in mental disorder research

Directory of Open Access Journals (Sweden)

Guilherme Borges

2004-10-01

characteristic of mental disorder epidemiology is that its target diseases manifest in two levels: behaviorally (for example, compulsive hand-washing and as an element of the individual's mental life (e.g., obsession with bacteria being a constant, omnipresent health threat. It follows that much of the knowledge currently available on the phenomena of mental disorders in general is based on the self-reported insight of individuals. Trained clinicians have collected such reports by interview or with standardized questionnaires. This field of epidemiology is characterized by having two-sides: a mental disorder is a problem in and of itself, causing suffering and prompting the search for specialized care, as it has peculiar clinical manifestations. On the other hand, mental disorder epidemiology also focuses on determining factors (drug use, abuse, or addiction and on the way these independent variables result in certain processes and outcomes (such as accidents, homicide, suicide, liver cirrhosis, etc.. Finally, the epidemiology of mental disorders has also been set apart by its focus in series of processes that are not suitably classified as syndromes, but which are germane to public health, for example, violence. The epidemiology of mental disorders faces great challenges in the new millennium, including a complex, changing epidemiologic scenario. Several important issues will influence the future development of mental disorder epidemiology: measurement of mental disorders and risk factors, more efficient sampling design and methods, the relationships among biological research, genetics, social studies, and epidemiology, and the interface between epidemiology and the evaluation of therapies and health services.

Legal implications of genetics and crime research.

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Denno, D W

1996-01-01

Two controversial topics dominate discussions of the legal implications of genetics and crime research; (1) the viability and politics of such research, which has sparked fervent debate in the USA; and (2) the current status of new or atypical criminal law defences, which would include a genetic-defect defence to criminal behaviour. This chapter begins by examining the scientifically discredited XYY chromosome syndrome defence, the major genetic-defect defence that defendants have attempted, albeit unsuccessfully. It then focuses on attorneys' efforts to test for evidence of genetic abnormality in the recent and highly publicized case involving convicted murderer Stephen Mobley, whose family history reveals four generations of violent, aggressive and behaviourally disordered men and women. Mobley is currently appealing his death sentence before the Georgia Supreme Court on the basis that the trial court denied his request both to have genetic testing performed and to have such testing allowed as evidence into court. This chapter concludes by emphasizing that the question is not whether genetic evidence will ever be admitted into court, but when and under what kinds of circumstances. No doubt, genetic evidence, and comparable kinds of biological evidence, will have a major impact on juries when such evidence is more fully accepted by the legal and scientific communities.

Biomarkers in Prostate Cancer Epidemiology

Directory of Open Access Journals (Sweden)

Mudit Verma

2011-09-01

Full Text Available Understanding the etiology of a disease such as prostate cancer may help in identifying populations at high risk, timely intervention of the disease, and proper treatment. Biomarkers, along with exposure history and clinical data, are useful tools to achieve these goals. Individual risk and population incidence of prostate cancer result from the intervention of genetic susceptibility and exposure. Biochemical, epigenetic, genetic, and imaging biomarkers are used to identify people at high risk for developing prostate cancer. In cancer epidemiology, epigenetic biomarkers offer advantages over other types of biomarkers because they are expressed against a person’s genetic background and environmental exposure, and because abnormal events occur early in cancer development, which includes several epigenetic alterations in cancer cells. This article describes different biomarkers that have potential use in studying the epidemiology of prostate cancer. We also discuss the characteristics of an ideal biomarker for prostate cancer, and technologies utilized for biomarker assays. Among epigenetic biomarkers, most reports indicate GSTP1 hypermethylation as the diagnostic marker for prostate cancer; however, NKX2-5, CLSTN1, SPOCK2, SLC16A12, DPYS, and NSE1 also have been reported to be regulated by methylation mechanisms in prostate cancer. Current challenges in utilization of biomarkers in prostate cancer diagnosis and epidemiologic studies and potential solutions also are discussed.

Radiobiology and Epidemiology

International Nuclear Information System (INIS)

Desaintes, C; Holmstock, L.

2001-01-01

The main objectives of research in the field of radiobiology and epidemiology performed at the Belgian Nuclear Research Centre SCK-CEN are: (1) to study cancer mortality in nuclear workers in Belgium and to co-ordinate the Belgian contribution to the 'International Collaborative Study of Cancer Risk among Radiation Workers in the Nuclear Industry'; (2) to elucidate the molecular basis of individual susceptibility to ionizing radiation in mammalian embryo during the early phases of its development; (3) to assess the genetic risk of maternal exposure to ionizing radiation; (4) to elucidate the cellular mechanisms leading to brain damage after prenatal irradiation; (5) to monitor the early variations of gene expression induced by ionising radiation and cytokines; (6) to evaluate the use of cytokines and natural substances for improving radiotherapy protocols; (6) to advise authorities and to provide the general population with adequate information concerning the health risk arising from radiation exposure. Progress and major achievements in these topical areas in 2000 are reported

Radiobiology and Epidemiology

Energy Technology Data Exchange (ETDEWEB)

Desaintes, C; Holmstock, L

2001-04-01

The main objectives of research in the field of radiobiology and epidemiology performed at the Belgian Nuclear Research Centre SCK-CEN are: (1) to study cancer mortality in nuclear workers in Belgium and to co-ordinate the Belgian contribution to the 'International Collaborative Study of Cancer Risk among Radiation Workers in the Nuclear Industry'; (2) to elucidate the molecular basis of individual susceptibility to ionizing radiation in mammalian embryo during the early phases of its development; (3) to assess the genetic risk of maternal exposure to ionizing radiation; (4) to elucidate the cellular mechanisms leading to brain damage after prenatal irradiation; (5) to monitor the early variations of gene expression induced by ionising radiation and cytokines; (6) to evaluate the use of cytokines and natural substances for improving radiotherapy protocols; (6) to advise authorities and to provide the general population with adequate information concerning the health risk arising from radiation exposure. Progress and major achievements in these topical areas in 2000 are reported.

Faith Moves Mountains-Mountains Move Faith: Two Opposite Epidemiological Forces in Research on Religion and Health.

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Hvidt, N C; Hvidtjørn, D; Christensen, K; Nielsen, J B; Søndergaard, J

2017-02-01

Research suggests opposite epidemiological forces in religion and health: (1). Faith seems to move mountains in the sense that religion is associated with positive health outcomes. (2). Mountains of bad health seem to move faith. We reflected on these forces in a population of 3000 young Danish twins in which all religiosity measures were associated with severe disease. We believe the reason for this novel finding is that the sample presents as a particularly secular population-based study and that the second epidemiological force has gained the upper hand in this sample. We suggest that all cross-sectional research on religion and health should be interpreted in light of such opposite epidemiological forces potentially diluting each other.

[Advances in genetic research of cerebral palsy].

Science.gov (United States)

Wang, Fang-Fang; Luo, Rong; Qu, Yi; Mu, De-Zhi

2017-09-01

Cerebral palsy is a group of syndromes caused by non-progressive brain injury in the fetus or infant and can cause disabilities in childhood. Etiology of cerebral palsy has always been a hot topic for clinical scientists. More and more studies have shown that genetic factors are closely associated with the development of cerebral palsy. With the development and application of various molecular and biological techniques such as chromosome microarray analysis, genome-wide association study, and whole exome sequencing, new achievements have been made in the genetic research of cerebral palsy. Chromosome abnormalities, copy number variations, susceptibility genes, and single gene mutation associated with the development of cerebral palsy have been identified, which provides new opportunities for the research on the pathogenesis of cerebral palsy. This article reviews the advances in the genetic research on cerebral palsy in recent years.

[Coronary heart disease: epidemiologic-genetic aspects].

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Epstein, F H

1985-01-01

Coronary heart disease and the risk factors which predispose to it aggregate in families. How much of this clustering of disease is "explained" by the familial resemblance in predisposing factors? The published reports which bear on this question fall into six distinct study designs: prospective studies, persons at high or low risk or persons with and without a positive family history as points of departure, case-control studies, studies of patients who had a coronary angiogram and studies in different ethnic groups. The findings of the 16 investigations reviewed suggest that there are as yet unidentified factors - genetic, environmental or both - which are responsible for familial clustering of coronary heart disease, apart from the three main risk factors (serum lipids, blood pressure, smoking) and diabetes. Future research must put greater emphasis on studies of families rather than individuals and on closer collaboration between epidemiologists and geneticists, in order to fill these gaps in knowledge. It is likely that the individual predisposition to coronary heart disease is due in part to genetic influences which remain to be discovered in the course of such studies. They would help in identifying susceptible person in the population with greater precision than is now possible. The "high-risk strategy" of coronary heart disease prevention will become more efficient as more specific and sensitive tests of disease prediction are developed. In the meantime, preventive programmes must be put into action on the basis of what is already known, on the level of both the high-risk and the community-wide mass strategy.

Understanding participation by African Americans in cancer genetics research.

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McDonald, Jasmine A; Barg, Frances K; Weathers, Benita; Guerra, Carmen E; Troxel, Andrea B; Domchek, Susan; Bowen, Deborah; Shea, Judy A; Halbert, Chanita Hughes

2012-01-01

Understanding genetic factors that contribute to racial differences in cancer outcomes may reduce racial disparities in cancer morbidity and mortality. Achieving this goal will be limited by low rates of African American participation in cancer genetics research. We conducted a qualitative study with African American adults (n = 91) to understand attitudes about participating in cancer genetics research and to identify factors that are considered when making a decision about participating in this type of research. Participants would consider the potential benefits to themselves, family members, and their community when making a decision to participate in cancer genetics research. However, concerns about exploitation, distrust of researchers, and investigators' motives were also important to participation decisions. Individuals would also consider who has access to their personal information and what would happen to these data. Side effects, logistical issues, and the potential to gain knowledge about health issues were also described as important factors in decision making. African Americans may consider a number of ethical, legal, and social issues when making a decision to participate in cancer genetics research. These issues should be addressed as part of recruitment efforts.

Ethical genetic research in Indigenous communities: challenges and successful approaches.

Science.gov (United States)

McWhirter, Rebekah E; Mununggirritj, Djapirri; Marika, Dipililnga; Dickinson, Joanne L; Condon, John R

2012-12-01

Indigenous populations, in common with all populations, stand to benefit from the potential of genetic research to lead to improvements in diagnostic and therapeutic tools for a wide range of complex diseases. However, many Indigenous communities, especially ones that are isolated, are not included in genetic research efforts. This situation is largely a consequence of the challenges of ethically conducting genetic research in Indigenous communities and compounded by Indigenous peoples' negative past experiences with genetic issues. To examine ways of addressing these challenges, we review one investigation of a cancer cluster in remote Aboriginal communities in Arnhem Land, Australia. Our experiences demonstrate that genetic research can be both ethically and successfully conducted with Indigenous communities by respecting the authority of the community, involving community members, and including regular community review throughout the research process. Copyright © 2012 Elsevier Ltd. All rights reserved.

Possible implication of the genetic composition of the Lutzomyia longipalpis (Diptera: Psychodidae) populations in the epidemiology of the visceral leishmaniasis.

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Rocha, Leonardo de Souza; Falqueto, Aloisio; Dos Santos, Claudiney Biral; Grimaldi, Gabriel Júnior; Cupolillo, Elisa

2011-09-01

Lutzomyia longipalpis (Diptera: Psychodidae) is the principal vector of American visceral leishmaniasis. Several studies have indicated that the Lu. longipalpis population structure is complex. It has been suggested that genetic divergence caused by genetic drift, selection, or both may affect the vectorial capacity of Lu. longipalpis. However, it remains unclear whether genetic differences among Lu. longipalpis populations are directly implicated in the transmission features of visceral leishmaniasis. We evaluated the genetic composition and the patterns of genetic differentiation among Lu. longipalpis populations collected from regions with different patterns of transmission of visceral leishmaniasis by analyzing the sequence variation in the mitochondrial cytochrome b gene. Furthermore, we investigated the temporal distribution of haplotypes and compared our results with those obtained in a previous study. Our data indicate that there are differences in the haplotype composition and that there has been significant differentiation between the analyzed populations. Our results reveal that measures used to control visceral leishmaniasis might have influenced the genetic composition of the vector population. This finding raises important questions concerning the epidemiology of visceral leishmaniasis, because these differences in the genetic structures among populations of Lu. longipalpis may have implications with respect to their efficiency as vectors for visceral leishmaniasis.

Epidemiology and risk factors for drug allergy.

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Thong, Bernard Y-H; Tan, Teck-Choon

2011-05-01

The aim of this review was to describe the current evidence-based knowledge of the epidemiology, prevalence, incidence, risk factors and genetic associations of drug allergy. Articles published between 1966 and 2010 were identified in MEDLINE using the key words adult, adverse drug reaction reporting systems, age factors, anaphylactoid, anaphylaxis, anaesthetics, antibiotics, child, drug allergy, drug eruptions, ethnic groups, hypersensitivity, neuromuscular depolarizing agents, neuromuscular nondepolarizing agents, sex factors, Stevens Johnson syndrome and toxic epidermal necrolysis. Additional studies were identified from article reference lists. Relevant, peer-reviewed original research articles, case series and reviews were considered for review. Current epidemiological studies on adverse drug reactions (ADRs) have used different definitions for ADR-related terminology, often do not differentiate immunologically and non-immunologically mediated drug hypersensitivity, study different study populations (different ethnicities, inpatients or outpatients, adults or children), utilize different methodologies (spontaneous vs. non-spontaneous reporting, cohort vs. case-control studies), different methods of assessing drug imputability and different methods of data analyses. Potentially life-threatening severe cutaneous adverse reactions (SCAR) are associated with a high risk of morbidity and mortality. HLA associations for SCAR associated with allopurinol, carbamazepine and abacavir have been reported with the potential for clinical use in screening prior to prescription. Identification of risk factors for drug allergy and appropriate genetic screening of at-risk ethnic groups may improve the outcomes of drug-specific SCAR. Research and collaboration are necessary for the generation of clinically-relevant, translational pharmacoepidemiological and pharmacogenomic knowledge, and success of health outcomes research and policies on drug allergies. © 2011 The Authors

Different differences: The use of ‘genetic ancestry’ versus race in biomedical human genetic research

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Fujimura, Joan H.; Rajagopalan, Ramya

2011-01-01

This article presents findings from our ethnographic research on biomedical scientists’ studies of human genetic variation and common complex disease. We examine the socio-material work involved in genome-wide association studies (GWAS) and discuss whether, how, and when notions of race and ethnicity are or are not used. We analyze how researchers produce simultaneously different kinds of populations and population differences. Although many geneticists use race in their analyses, we find some who have invented a statistical genetics method and associated software that they use specifically to avoid using categories of race in their genetics analysis. Their method allows them to operationalize their concept of ‘genetic ancestry’ without resorting to notions of race and ethnicity. We focus on the construction and implementation of the software’s algorithms, and discuss the consequences and implications of the software technology for debates and policies around the use of race in genetics research. We also demonstrate that the production and use of their method involves a dynamic and fluid assemblage of actors in various disciplines responding to disciplinary and sociopolitical contexts and concerns. This assemblage also includes particular discourses on human history and geography as they become entangled with research on genetic markers and disease. We introduce the concept of ‘genome geography’, to analyze how some researchers studying human genetic variation ‘locate’ stretches of DNA in different places and times. The concept of genetic ancestry and the practice of genome geography rely on old discourses, but they also incorporate new technologies, infrastructures, and political and scientific commitments. Some of these new technologies provide opportunities to change some of our institutional and cultural forms and frames around notions of difference and similarity. Neverthless, we also highlight the slipperiness of genome geography and the

Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.

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Paradisi, Irene; Ikonomu, Vassiliki; Arias, Sergio

2016-03-01

Dominantly inherited ataxias (spinocerebellar ataxias, SCAs) are a genetically heterogeneous group of neurologic diseases characterized by progressive cerebellar and spinal tract degeneration with ataxia and other signs, common to all known subtypes. Several types are relatively frequent worldwide, but in several countries, one specific SCA may show a higher prevalence owing to founder phenomena. In Venezuela, genetic epidemiological features of SCAs have been assessed during the last 30 years; mutations in ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN7 (SCA7), ATXN8 (SCA8), ATXN10 (SCA10), TBP (SCA17) and ATN1 (dentatorubral pallidoluysian atrophy, DRPLA) loci were searched among 115 independent families. SCA7 was the most frequent subtype (26.6%), followed by SCA3 (25.0%), SCA2 (21.9%), SCA1 (17.2%), SCA10 (4.7%) and DRPLA (3.1%); in 43% of the families, the subtype remained unidentified. SCA7 mutations displayed strong geographic aggregation in two independent founder foci, and SCA1 showed a very remote founder effect for a subset of families. SCA10 families were scattered across the country, but all had an identical in-phase haplotype carried also by Mexican, Brazilian and Sioux patients, supporting a very old common Amerindian origin. Prevalence for dominant SCAs in Venezuela was estimated as 1:25 000 nuclear families, provenances of which are either Caucasoid, African or Amerindian.

Epidemiology and statistics at the Nordic School of Public Health: Teaching and research 1979-2014.

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Eriksson, Bo

2015-08-01

The Nordic School of Public Health (NHV) was jointly founded in 1953 by the Nordic countries. Until 1979, the school provided ad hoc courses on public health topics, using external teachers drawn mainly from the Nordic countries. At the time, the permanent staff of the school was small. In 1979, it began a Master's degree programme and a few academic positions were established and filled, to support these courses. The programme included four main areas: Epidemiology, Social Medicine, Environmental Health and Health Services Administration. Epidemiology was compulsory in all Master of Public Health (MPH) exams, but there were a handful of optional courses that could be substituted for the other subjects.This paper tells the story of Epidemiology at NHV from about 1980, up until closure of the school in 2014. The original MPH model ran until 1995. Nursing Science entered NHV from about 1985 and worked mainly with qualitative research that often focused on individual patients. The new methods attracted nurses, midwives, psychologists and other groups that previously had been less represented in NHV. Being quantitative and population oriented, Epidemiology lost its unique position as a mandatory subject for the MPH examination. In addition the 'New Public Health' proposed by the World Health Organisation (WHO) that advocated health promotion and the philosophy of salutogenesis became a challenge for the programme in epidemiology: pathogenesis no longer was of primary interest. From 1995, the MPH format changed repeatedly and a DrPH programme was begun. For the last 8 years of its existence, NHV offered a reasonably comprehensive, basic course in Epidemiology.Throughout the years, epidemiology training and research at NHV were very traditional. In being a relatively free institution in terms of academic choices, NHV should have contributed to the development and innovation of epidemiology in public health. For several reasons, this did not happen. © 2015 the Nordic

Advancing ecological understandings through technological transformations in noninvasive genetics.

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Beja-Pereira, Albano; Oliveira, Rita; Alves, Paulo C; Schwartz, Michael K; Luikart, Gordon

2009-09-01

Noninvasive genetic approaches continue to improve studies in molecular ecology, conservation genetics and related disciplines such as forensics and epidemiology. Noninvasive sampling allows genetic studies without disturbing or even seeing the target individuals. Although noninvasive genetic sampling has been used for wildlife studies since the 1990s, technological advances continue to make noninvasive approaches among the most used and rapidly advancing areas in genetics. Here, we review recent advances in noninvasive genetics and how they allow us to address important research and management questions thanks to improved techniques for DNA extraction, preservation, amplification and data analysis. We show that many advances come from the fields of forensics, human health and domestic animal health science, and suggest that molecular ecologists explore literature from these fields. Finally, we discuss how the combination of advances in each step of a noninvasive genetics study, along with fruitful areas for future research, will continually increase the power and role of noninvasive genetics in molecular ecology and conservation genetics. © 2009 Blackwell Publishing Ltd.

Parkinson’s Disease in Sub-Saharan Africa: A Review of Epidemiology, Genetics and Access to Care

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Bandmann, Oliver; Walker, Richard

2018-01-01

A low prevalence of Parkinson’s disease (PD) has been reported in the Sub-Saharan Africa (SSA) region. The genetic causes and clinical features of PD in this region have been poorly described. Very few reports have examined the availability and access to evidence-based quality care for people living with PD in this region. We reviewed all publications focusing on idiopathic PD from SSA published up to May 2016 and observed a prevalence of PD ranging from 7/100,000 in Ethiopia to 67/100,000 in Nigeria. The most recent community-based study reported a mean age at onset of 69.4 years. The infrequent occurrence of mutations in established PD genes was also observed in the region. Treatments were non-existent or at best irregular. Additionally, there is a lack of well-trained medical personnel and multidisciplinary teams in most countries in this region. Drugs for treating PD are either not available or unaffordable. Large-scale genetic and epidemiological studies are therefore needed in SSA to provide further insights into the roles of genetics and other etiological factors in the pathogenesis of PD. The quality of care also requires urgent improvement to meet the basic level of care required by PD patients. PMID:29860783

Human genome and genetic sequencing research and informed consent

International Nuclear Information System (INIS)

Iwakawa, Mayumi

2003-01-01

On March 29, 2001, the Ethical Guidelines for Human Genome and Genetic Sequencing Research were established. They have intended to serve as ethical guidelines for all human genome and genetic sequencing research practice, for the purpose of upholding respect for human dignity and rights and enforcing use of proper methods in the pursuit of human genome and genetic sequencing research, with the understanding and cooperation of the public. The RadGenomics Project has prepared a research protocol and informed consent document that follow these ethical guidelines. We have endeavored to protect the privacy of individual information, and have established a procedure for examination of research practices by an ethics committee. Here we report our procedure in order to offer this concept to the patients. (authors)

Surrogate receptivity to participation in critical illness genetic research: aligning research oversight and stakeholder concerns.

Science.gov (United States)

Freeman, Bradley D; Butler, Kevin; Bolcic-Jankovic, Dragana; Clarridge, Brian R; Kennedy, Carie R; LeBlanc, Jessica; Chandros Hull, Sara

2015-04-01

Collection of genetic biospecimens as part of critical illness investigations is increasingly commonplace. Oversight bodies vary in restrictions imposed on genetic research, introducing inconsistencies in study design, potential for sampling bias, and the possibility of being overly prohibitive of this type of research altogether. We undertook this study to better understand whether restrictions on genetic data collection beyond those governing research on cognitively intact subjects reflect the concerns of surrogates for critically ill patients. We analyzed survey data collected from 1,176 patients in nonurgent settings and 437 surrogates representing critically ill adults. Attitudes pertaining to genetic data (familiarity, perceptions, interest in participation, concerns) and demographic information were examined using univariate and multivariate techniques. We explored differences among respondents who were receptive (1,333) and nonreceptive (280) to genetic sample collection. Whereas factors positively associated with receptivity to research participation were "complete trust" in health-care providers (OR, 2.091; 95% CI, 1.544-2.833), upper income strata (OR, 2.319; 95% CI, 1.308-4.114), viewing genetic research "very positively" (OR, 3.524; 95% CI, 2.122-5.852), and expressing "no worry at all" regarding disclosure of results (OR, 2.505; 95% CI, 1.436-4.369), black race was negatively associated with research participation (OR, 0.410; 95% CI, 0.288-0.585). We could detect no difference in receptivity to genetic sample collection comparing ambulatory patients and surrogates (OR, 0.738; 95% CI, 0.511-1.066). Expressing trust in health-care providers and viewing genetic research favorably were associated with increased willingness for study enrollment, while concern regarding breach of confidentiality and black race had the opposite effect. Study setting had no bearing on willingness to participate.

Consulting the community: public expectations and attitudes about genetics research

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Etchegary, Holly; Green, Jane; Dicks, Elizabeth; Pullman, Daryl; Street, Catherine; Parfrey, Patrick

2013-01-01

Genomic discoveries and technologies promise numerous opportunities for improving health. Key to these potential health improvements, however, are health-care consumers' understanding and acceptance of these new developments. We identified community groups and invited them to a public information-consultation session in order to explore public awareness, perception and expectations about genetics and genomics research. One hundred and four members of seven community groups in Newfoundland, Canada took part in the community sessions. Content analysis of participant comments revealed they were largely hopeful about genetics research in its capacity to improve health; however, they did not accept such research uncritically. Complex issues arose during the community consultations, including the place of genetics in primary care, the value of genetics for personal health, and concerns about access to and uses of genetic information. Participants unequivocally endorsed the value of public engagement with these issues. The rapid pace of discoveries in genomics research offers exciting opportunities to improve population health. However, public support will be crucial to realize health improvements. Our findings suggest that regular, transparent dialog between researchers and the public could allow a greater understanding of the research process, as well as assist in the design of efficient and effective genetic health services, informed by the public that will use them. PMID:23591403

Genetic testing and its implications: human genetics researchers grapple with ethical issues.

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Rabino, Isaac

2003-01-01

To better understand ethical issues involved in the field of human genetics and promote debate within the scientific community, the author surveyed scientists who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. This study contributes systematic data on attitudes of scientific experts. The survey finds respondents are highly supportive of voluntary testing and the right to know one's genetic heritage. The majority consider in utero testing and consequent pregnancy termination acceptable for cases involving likelihood of serious disease but disapprove for genetic reasons they consider arbitrary, leaving a gray area of distinguishing between treatment of disorders and enhancement still to be resolved. While safeguarding patient confidentiality versus protecting at-risk third parties (kin, reproductive partners) presents a dilemma, preserving privacy from misuse by institutional third parties (employers, insurers) garners strong consensus for legislation against discrimination. Finally, a call is made for greater genetic literacy.

Epidemiologic research using probabilistic outcome definitions.

Science.gov (United States)

Cai, Bing; Hennessy, Sean; Lo Re, Vincent; Small, Dylan S

2015-01-01

Epidemiologic studies using electronic healthcare data often define the presence or absence of binary clinical outcomes by using algorithms with imperfect specificity, sensitivity, and positive predictive value. This results in misclassification and bias in study results. We describe and evaluate a new method called probabilistic outcome definition (POD) that uses logistic regression to estimate the probability of a clinical outcome using multiple potential algorithms and then uses multiple imputation to make valid inferences about the risk ratio or other epidemiologic parameters of interest. We conducted a simulation to evaluate the performance of the POD method with two variables that can predict the true outcome and compared the POD method with the conventional method. The simulation results showed that when the true risk ratio is equal to 1.0 (null), the conventional method based on a binary outcome provides unbiased estimates. However, when the risk ratio is not equal to 1.0, the traditional method, either using one predictive variable or both predictive variables to define the outcome, is biased when the positive predictive value is value is poor (less than 0.75 in our simulation). In contrast, the POD method provides unbiased estimates of the risk ratio both when this measure of effect is equal to 1.0 and not equal to 1.0. Even when the sensitivity and positive predictive value are low, the POD method continues to provide unbiased estimates of the risk ratio. The POD method provides an improved way to define outcomes in database research. This method has a major advantage over the conventional method in that it provided unbiased estimates of risk ratios and it is easy to use. Copyright © 2014 John Wiley & Sons, Ltd.

Developing genetic epidemiological models to predict risk for nasopharyngeal carcinoma in high-risk population of China.

Directory of Open Access Journals (Sweden)

Hong-Lian Ruan

Full Text Available To date, the only established model for assessing risk for nasopharyngeal carcinoma (NPC relies on the sero-status of the Epstein-Barr virus (EBV. By contrast, the risk assessment models proposed here include environmental risk factors, family history of NPC, and information on genetic variants. The models were developed using epidemiological and genetic data from a large case-control study, which included 1,387 subjects with NPC and 1,459 controls of Cantonese origin. The predictive accuracy of the models were then assessed by calculating the area under the receiver-operating characteristic curves (AUC. To compare the discriminatory improvement of models with and without genetic information, we estimated the net reclassification improvement (NRI and integrated discrimination index (IDI. Well-established environmental risk factors for NPC include consumption of salted fish and preserved vegetables and cigarette smoking (in pack years. The environmental model alone shows modest discriminatory ability (AUC = 0.68; 95% CI: 0.66, 0.70, which is only slightly increased by the addition of data on family history of NPC (AUC = 0.70; 95% CI: 0.68, 0.72. With the addition of data on genetic variants, however, our model's discriminatory ability rises to 0.74 (95% CI: 0.72, 0.76. The improvements in NRI and IDI also suggest the potential usefulness of considering genetic variants when screening for NPC in endemic areas. If these findings are confirmed in larger cohort and population-based case-control studies, use of the new models to analyse data from NPC-endemic areas could well lead to earlier detection of NPC.

The Netherlands twin register biobank: A resource for genetic epidemiological studies

NARCIS (Netherlands)

Willemsen, G.; Geus, E.J.C. de; Bartels, M.; Beijsterveldt, C.E.M.T. van; Brooks, A.I.; Estourgie-van Burk, G.F.; Fugman, D.A.; Hoekstra, C.; Hottenga, J.-J.; Kluft, K.; Meijer, P.; Montgomery, G.W.; Rizzu, P.; Sondervan, D.; Smit, A.B.; Spijker, S.; Suchiman, H.E.D.; Tischfield, J.A.; Lehner, T.; Slagboom, P.E.; Boomsma, D.I.

2010-01-01

In 2004 the Netherlands Twin Register (NTR) started a large scale biological sample collection in twin families to create a resource for genetic studies on health, lifestyle and personality. Between January 2004 and July 2008, adult participants from NTR research projects were invited into the

DOE (Department of Energy) Epidemiologic Research Program

Energy Technology Data Exchange (ETDEWEB)

1990-01-01

The objective of the Department of Energy (DOE) Epidemiologic Research Program is to determine the human health effects resulting from the generation and use of energy, and of the operation of DOE facilities. The program is divided into seven general areas of activity; the Radiation Effects Research Foundation (RERF) which supports studies of survivors of the atomic weapons in Hiroshima and Nagasaki, mortality and morbidity studies of DOE workers, studies on internally deposited alpha emitters, medical/histologic studies, studies on the aspects of radiation damage, community health surveillance studies, and the development of computational techniques and of databases to make the results as widely useful as possible. Excluding the extensive literature from the RERF, the program has produced 340 publications in scientific journals, contributing significantly to improving the understanding of the health effects of ionizing radiation exposure. In addition, a large number of public presentations were made and are documented elsewhere in published proceedings or in books. The purpose of this bibliography is to present a guide to the research results obtained by scientists supported by the program. The bibliography, which includes doctoral theses, is classified by laboratory and by year and also summarizes the results from individual authors by journal.

DOE [Department of Energy] Epidemiologic Research Program

International Nuclear Information System (INIS)

1990-01-01

The objective of the Department of Energy (DOE) Epidemiologic Research Program is to determine the human health effects resulting from the generation and use of energy, and of the operation of DOE facilities. The program is divided into seven general areas of activity; the Radiation Effects Research Foundation (RERF) which supports studies of survivors of the atomic weapons in Hiroshima and Nagasaki, mortality and morbidity studies of DOE workers, studies on internally deposited alpha emitters, medical/histologic studies, studies on the aspects of radiation damage, community health surveillance studies, and the development of computational techniques and of databases to make the results as widely useful as possible. Excluding the extensive literature from the RERF, the program has produced 340 publications in scientific journals, contributing significantly to improving the understanding of the health effects of ionizing radiation exposure. In addition, a large number of public presentations were made and are documented elsewhere in published proceedings or in books. The purpose of this bibliography is to present a guide to the research results obtained by scientists supported by the program. The bibliography, which includes doctoral theses, is classified by laboratory and by year and also summarizes the results from individual authors by journal

[Genetic, epidemiologic and clinical study of familial prostate cancer].

Science.gov (United States)

Valéri, Antoine

2002-01-01

Prostate cancer (CaP) is the most frequent cancer among men over 50 and its frequency increases with age. It has become a significant public health problem due to the ageing population. Epidemiologists report familial aggregation in 15 to 25% of cases and inherited susceptibility with autosomal dominant or X-linked model in 5 to 10% of cases. Clinical and biological features of familial CaP remain controversial. To perform: (1) Genetic study of familial Cap (mapping of susceptibility genes), (2) epidemiologic study (prevalence, associated cancers in the genealogy, model of transmission), and clinical study of familial CaP. (I) conducting a nationwide family collection (ProGène study) with 2+ CaP we have performed a genomewide linkage analysis and identified a predisposing locus on 1q42.2-43 named PCaP (Predisposing to Cancer of the Prostate); (II) conducting a systematic genealogic analysis of 691 CaP followed up in 3 University departments of urology (Hospitals of Brest, Paris St Louis and Nancy) we have observed: (1) 14.2% of familial and 3.6% of hereditary CaP, (2) a higher risk of breast cancer in first degree relatives of probands (CaP+) in familial CaP than in sporadic CaP and in early onset CaP (< 55 years) when compared with late onset CaP ([dG]75 years), (3) an autosomal dominant model with brother-brother dependance), (4) the lack of specific clinical or biological feature (except for early onset) in hereditary CaP when compared with sporadic CaP. (1) The mapping of a susceptibility locus will permit the cloning of a predisposing gene on 1q42.2-43, offer the possibility of genetic screening in families at risk and permit genotype/phenotype correlation studies; (2) the transmission model will improve parameteric linkage studies; (3) the lack of distinct specific clinical patterns suggest diagnostic and follow up modalities for familial and hereditary CaP similar to sporadic cancer while encouraging early screening of families at risk, given the earlier

Genetic and Molecular Epidemiological Characterization of a Novel Adenovirus in Antarctic Penguins Collected between 2008 and 2013.

Directory of Open Access Journals (Sweden)

Sook-Young Lee

Full Text Available Antarctica is considered a relatively uncontaminated region with regard to the infectious diseases because of its extreme environment, and isolated geography. For the genetic characterization and molecular epidemiology of the newly found penguin adenovirus in Antarctica, entire genome sequencing and annual survey of penguin adenovirus were conducted. The entire genome sequences of penguin adenoviruses were completed for two Chinstrap penguins (Pygoscelis antarctica and two Gentoo penguins (Pygoscelis papua. The whole genome lengths and G+C content of penguin adenoviruses were found to be 24,630-24,662 bp and 35.5-35.6%, respectively. Notably, the presence of putative sialidase gene was not identified in penguin adenoviruses by Rapid Amplification of cDNA Ends (RACE-PCR as well as consensus specific PCR. The penguin adenoviruses were demonstrated to be a new species within the genus Siadenovirus, with a distance of 29.9-39.3% (amino acid, 32.1-47.9% in DNA polymerase gene, and showed the closest relationship with turkey adenovirus 3 (TAdV-3 in phylogenetic analysis. During the 2008-2013 study period, the penguin adenoviruses were annually detected in 22 of 78 penguins (28.2%, and the molecular epidemiological study of the penguin adenovirus indicates a predominant infection in Chinstrap penguin population (12/30, 40%. Interestingly, the genome of penguin adenovirus could be detected in several internal samples, except the lymph node and brain. In conclusion, an analysis of the entire adenoviral genomes from Antarctic penguins was conducted, and the penguin adenoviruses, containing unique genetic character, were identified as a new species within the genus Siadenovirus. Moreover, it was annually detected in Antarctic penguins, suggesting its circulation within the penguin population.

Complete genome sequence of hypervirulent and outbreak-associated Acinetobacter baumannii strain LAC-4: epidemiology, resistance genetic determinants and potential virulence factors

Science.gov (United States)

Ou, Hong-Yu; Kuang, Shan N.; He, Xinyi; Molgora, Brenda M.; Ewing, Peter J.; Deng, Zixin; Osby, Melanie; Chen, Wangxue; Xu, H. Howard

2015-01-01

Acinetobacter baumannii is an important human pathogen due to its multi-drug resistance. In this study, the genome of an ST10 outbreak A. baumannii isolate LAC-4 was completely sequenced to better understand its epidemiology, antibiotic resistance genetic determinants and potential virulence factors. Compared with 20 other complete genomes of A. baumannii, LAC-4 genome harbors at least 12 copies of five distinct insertion sequences. It contains 12 and 14 copies of two novel IS elements, ISAba25 and ISAba26, respectively. Additionally, three novel composite transposons were identified: Tn6250, Tn6251 and Tn6252, two of which contain resistance genes. The antibiotic resistance genetic determinants on the LAC-4 genome correlate well with observed antimicrobial susceptibility patterns. Moreover, twelve genomic islands (GI) were identified in LAC-4 genome. Among them, the 33.4-kb GI12 contains a large number of genes which constitute the K (capsule) locus. LAC-4 harbors several unique putative virulence factor loci. Furthermore, LAC-4 and all 19 other outbreak isolates were found to harbor a heme oxygenase gene (hemO)-containing gene cluster. The sequencing of the first complete genome of an ST10 A. baumannii clinical strain should accelerate our understanding of the epidemiology, mechanisms of resistance and virulence of A. baumannii. PMID:25728466

An Analytical Framework for Delirium Research in Palliative Care Settings: Integrated Epidemiologic, Clinician-Researcher, and Knowledge User Perspectives

Science.gov (United States)

Ansari, Mohammed; Hosie, Annmarie; Kanji, Salmaan; Momoli, Franco; Bush, Shirley H.; Watanabe, Sharon; Currow, David C.; Gagnon, Bruno; Agar, Meera; Bruera, Eduardo; Meagher, David J.; de Rooij, Sophia E.J.A.; Adamis, Dimitrios; Caraceni, Augusto; Marchington, Katie; Stewart, David J.

2014-01-01

Context Delirium often presents difficult management challenges in the context of goals of care in palliative care settings. Objectives The aim was to formulate an analytical framework for further research on delirium in palliative care settings, prioritize the associated research questions, discuss the inherent methodological challenges associated with relevant studies, and outline the next steps in a program of delirium research. Methods We combined multidisciplinary input from delirium researchers and knowledge users at an international delirium study planning meeting, relevant literature searches, focused input of epidemiologic expertise, and a meeting participant and coauthor survey to formulate a conceptual research framework and prioritize research questions. Results Our proposed framework incorporates three main groups of research questions: the first was predominantly epidemiologic, such as delirium occurrence rates, risk factor evaluation, screening, and diagnosis; the second covers pragmatic management questions; and the third relates to the development of predictive models for delirium outcomes. Based on aggregated survey responses to each research question or domain, the combined modal ratings of “very” or “extremely” important confirmed their priority. Conclusion Using an analytical framework to represent the full clinical care pathway of delirium in palliative care settings, we identified multiple knowledge gaps in relation to the occurrence rates, assessment, management, and outcome prediction of delirium in this population. The knowledge synthesis generated from adequately powered, multicenter studies to answer the framework’s research questions will inform decision making and policy development regarding delirium detection and management and thus help to achieve better outcomes for patients in palliative care settings. PMID:24726762

Gordon Research Conference on Genetic Toxicology

Energy Technology Data Exchange (ETDEWEB)

Project Director Penelope Jeggo

2003-02-15

Genetic toxicology represents a study of the genetic damage that a cell can incur, the agents that induce such damage, the damage response mechanisms available to cells and organisms, and the potential consequences of such damage. Genotoxic agents are abundant in the environment and are also induced endogenously. The consequences of such damage can include carcinogenesis and teratogenesis. An understanding of genetic toxicology is essential to carry out risk evaluations of the impact of genotoxic agents and to assess how individual genetic differences influence the response to genotoxic damage. In recent years, the importance of maintaining genomic stability has become increasingly recognized, in part by the realization that failure of the damage response mechanisms underlies many, if not all, cancer incidence. The importance of these mechanisms is also underscored by their remarkable conservation between species, allowing the study of simple organisms to provide significant input into our understanding of the underlying mechanisms. It has also become clear that the damage response mechanisms interface closely with other aspects of cellular metabolism including replication, transcription and cell cycle regulation. Moreover, defects in many of these mechanisms, as observed for example in ataxia telangiectasia patients, confer disorders with associated developmental abnormalities demonstrating their essential roles during growth and development. In short, while a decade ago, a study of the impact of DNA damage was seen as a compartmentalized area of cellular research, it is now appreciated to lie at the centre of an array of cellular responses of crucial importance to human health. Consequently, this has become a dynamic and rapidly advancing area of research. The Genetic Toxicology Gordon Research Conference is biannual with an evolving change in the emphasis of the meetings. From evaluating the nature of genotoxic chemicals, which lay at the centre of the early

Effects of smoking on the genetic risk of obesity: the population architecture using genomics and epidemiology study

Directory of Open Access Journals (Sweden)

Fesinmeyer Megan D

2013-01-01

Full Text Available Abstract Background Although smoking behavior is known to affect body mass index (BMI, the potential for smoking to influence genetic associations with BMI is largely unexplored. Methods As part of the ‘Population Architecture using Genomics and Epidemiology (PAGE’ Consortium, we investigated interaction between genetic risk factors associated with BMI and smoking for 10 single nucleotide polymorphisms (SNPs previously identified in genome-wide association studies. We included 6 studies with a total of 56,466 subjects (16,750 African Americans (AA and 39,716 European Americans (EA. We assessed effect modification by testing an interaction term for each SNP and smoking (current vs. former/never in the linear regression and by stratified analyses. Results We did not observe strong evidence for interactions and only observed two interactions with p-values TMEM18, the risk allele (C was associated with BMI only among AA females who were former/never smokers (β = 0.018, p = 0.002, vs. current smokers (β = 0.001, p = 0.95, pinteraction = 0.10. For rs9939609/FTO, the A allele was more strongly associated with BMI among current smoker EA females (β = 0.017, p = 3.5x10-5, vs. former/never smokers (β = 0.006, p = 0.05, pinteraction = 0.08. Conclusions These analyses provide limited evidence that smoking status may modify genetic effects of previously identified genetic risk factors for BMI. Larger studies are needed to follow up our results. Clinical Trial Registration NCT00000611

At the crossroads of anthropology and epidemiology: current research in cultural psychiatry in the UK.

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Dein, Simon; Bhui, Kamaldeep Singh

2013-12-01

Cultural psychiatry research in the UK comprises a broad range of diverse methodologies, academic disciplines, and subject areas. Methodologies range from epidemiological to anthropological/ethnographic to health services research; mixed methods research is becoming increasingly popular, as are public health and health promotional topics. After briefly outlining the history of cultural psychiatry in the UK we will discuss contemporary research. Prominent themes include: the epidemiology of schizophrenia among Africans/Afro-Caribbeans, migration and mental health, racism and mental health, cultural identity, pathways to care, explanatory models of mental illness, cultural competence, and the subjective experiences of healthcare provision among specific ethnic groups such as Bangladeshis and Pakistanis. Another strand of research that is attracting increasing academic attention focuses upon the relationship between religion, spirituality, and mental health, in particular, the phenomenology of religious experience and its mental health ramifications, as well as recent work examining the complex links between theology and psychiatry. The paper ends by appraising the contributions of British cultural psychiatrists to the discipline of cultural psychiatry and suggesting promising areas for future research.

A Fantastic Epidemiology Journey: from China to Africa and back

Science.gov (United States)

Dr. Ann Hsing is a professor of medicine at Stanford University and a co-leader of the Population Sciences Program at Stanford Cancer Institute. She is also a professor in the Department of Health Research and Policy (epidemiology, by courtesy) and a faculty fellow for the Center for Innovation in Global Health. In addition, she chairs the Pacific Rim Alliance for Population Health at Stanford’s Center for Population Health Sciences. Prior to joining Stanford School of Medicine, Dr. Hsing served four years as Chief Scientific Officer at the Cancer Prevention Institute of California and 22 years as an intramural scientist (tenured senior investigator) at the Division of Cancer Epidemiology and Genetics, National Cancer Institute. Dr. Hsing received her PhD in epidemiology from the Johns Hopkins University and is widely recognized as a leading expert in the epidemiology of prostate and hepatobiliary cancer, as well as hormonal carcinogenesis and molecular epidemiology. She has authored more than 280 peer-reviewed articles and mentored over 60 pre- and post-doctoral fellows and junior scholars. At Stanford, she leads the Liver Cancer Working Group and the LDCT Screening Group, and serves as the principal investigator (PI) for wellness cohort studies in China, Taiwan, and Singapore as well as liver cancer studies in the Bay area, Taiwan, Mongolia, and Africa.

Molecular research and genetic engineering of resistance to ...

African Journals Online (AJOL)

This paper reviews the recent research progress on genetic methods of resistance, the status and existing problems, traditional breeding, the main resistance mechanism, molecular markers and genetic engineering of resistance genes. It is hoped that new breeding methods and new varieties resistant to Verticillium wilt will ...

Molecular epidemiology, and possible real-world applications in breast cancer.

Science.gov (United States)

Ito, Hidemi; Matsuo, Keitaro

2016-01-01

Gene-environment interaction, a key idea in molecular epidemiology, has enabled the development of personalized medicine. This concept includes personalized prevention. While genome-wide association studies have identified a number of genetic susceptibility loci in breast cancer risk, however, the application of this knowledge to practical prevention is still underway. Here, we briefly review the history of molecular epidemiology and its progress in breast cancer epidemiology. We then introduce our experience with the trial combination of GWAS-identified loci and well-established lifestyle and reproductive risk factors in the risk prediction of breast cancer. Finally, we report our exploration of the cumulative risk of breast cancer based on this risk prediction model as a potential tool for individual risk communication, including genetic risk factors and gene-environment interaction with obesity.

Mapping epidemiology's past to inform its future: metaknowledge analysis of epidemiologic topics in leading journals, 1974-2013.

Science.gov (United States)

Trinquart, Ludovic; Galea, Sandro

2015-07-15

An empiric perspective on what epidemiology has studied over time might inform discussions about future directions for the discipline. We aimed to identify the main areas of epidemiologic inquiry and determine how they evolved over time in 5 high-impact epidemiologic journals. We analyzed the titles and abstracts of 20,895 articles that were published between 1974 and 2013. In 5 time periods that reflected approximately equal numbers of articles, we identified the main topics by clustering terms based on co-occurrence. Infectious disease and cardiovascular disease epidemiology were the prevailing topics over the 5 periods. Cancer epidemiology was a major topic from 1974 to 2001 but disappeared thereafter. Nutritional epidemiology gained relative importance from 1974 to 2013. Environmental epidemiology appeared during 1996-2001 and continued to be important, whereas 2 clusters related to methodology and meta-analysis in genetics appeared during 2008-2013. Several areas of epidemiology, including injury or psychiatric epidemiology, did not make an appearance as major topics at any time. In an ancillary analysis of 6 high-impact general medicine journals, we found patterns of epidemiologic articles that were overall consistent with the findings in epidemiologic journals. This metaknowledge investigation allowed identification of the dominant topics in and conversely those that were absent from 5 major epidemiologic journals. We discuss implications for the field. © The Author 2015. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

A study of HIV-1 genetic diversity in the Czech Republic: 1986-2007

Czech Academy of Sciences Publication Activity Database

Linka, M.; Brůčková, M.; Malý, M.; Vandasová, J.; Stanková, M.; Reiniš, Milan

2009-01-01

Roč. 16, č. 4 (2009), s. 175-177 ISSN 1210-7778 Grant - others:MZd ČR(CZ) NR7843 Institutional research plan: CEZ:AV0Z50520514 Keywords : HIV-1 subtyping * non-B subtypes * molecular epidemiology Subject RIV: EB - Genetics ; Molecular Biology

Genetics of Human and Canine Dilated Cardiomyopathy.

Science.gov (United States)

Simpson, Siobhan; Edwards, Jennifer; Ferguson-Mignan, Thomas F N; Cobb, Malcolm; Mongan, Nigel P; Rutland, Catrin S

2015-01-01

Cardiovascular disease is a leading cause of death in both humans and dogs. Dilated cardiomyopathy (DCM) accounts for a large number of these cases, reported to be the third most common form of cardiac disease in humans and the second most common in dogs. In human studies of DCM there are more than 50 genetic loci associated with the disease. Despite canine DCM having similar disease progression to human DCM studies into the genetic basis of canine DCM lag far behind those of human DCM. In this review the aetiology, epidemiology, and clinical characteristics of canine DCM are examined, along with highlighting possible different subtypes of canine DCM and their potential relevance to human DCM. Finally the current position of genetic research into canine and human DCM, including the genetic loci, is identified and the reasons many studies may have failed to find a genetic association with canine DCM are reviewed.

Molecular markers in the epidemiology and diagnosis of coccidioidomycosis.

Science.gov (United States)

Duarte-Escalante, Esperanza; Frías-De-León, María Guadalupe; Zúñiga, Gerardo; Martínez-Herrera, Erick; Acosta-Altamirano, Gustavo; Reyes-Montes, María Del Rocío

2014-01-01

The prevalence of coccidioidomycosis in endemic areas has been observed to increase daily. To understand the causes of the spread of the disease and design strategies for fungal detection in clinical and environmental samples, scientists have resorted to molecular tools that allow fungal detection in a natural environment, reliable identification in clinical cases and the study of biological characteristics, such as reproductive and genetic structure, demographic history and diversification. We conducted a review of the most important molecular markers in the epidemiology of Coccidioides spp. and the diagnosis of coccidioidomycosis. A literature search was performed for scientific publications concerning the application of molecular tools for the epidemiology and diagnosis of coccidioidomycosis. The use of molecular markers in the epidemiological study and diagnosis of coccidioidomycosis has allowed for the typing of Coccidioides spp. isolates, improved understanding of their mode of reproduction, genetic variation and speciation and resulted in the development specific, rapid and sensitive strategies for detecting the fungus in environmental and clinical samples. Molecular markers have revealed genetic variability in Coccidioides spp. This finding influences changes in the epidemiology of coccidioidomycosis, such as the emergence of more virulent or antifungal resistant genotypes. Furthermore, the molecular markers currently used to identify Coccidioides immitis and Coccidioides posadasii are specific and sensitive. However, they must be validated to determine their application in diagnosis. This manuscript is part of the series of works presented at the "V International Workshop: Molecular genetic approaches to the study of human pathogenic fungi" (Oaxaca, Mexico, 2012). Copyright © 2013 Revista Iberoamericana de Micología. Published by Elsevier Espana. All rights reserved.

Increasing global participation in genetics research through DNA barcoding.

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Adamowicz, Sarah J; Steinke, Dirk

2015-12-01

DNA barcoding--the sequencing of short, standardized DNA regions for specimen identification and species discovery--has promised to facilitate rapid access to biodiversity knowledge by diverse users. Here, we advance our opinion that increased global participation in genetics research is beneficial, both to scientists and for science, and explore the premise that DNA barcoding can help to democratize participation in genetics research. We examine publication patterns (2003-2014) in the DNA barcoding literature and compare trends with those in the broader, related domain of genomics. While genomics is the older and much larger field, the number of nations contributing to the published literature is similar between disciplines. Meanwhile, DNA barcoding exhibits a higher pace of growth in the number of publications as well as greater evenness among nations in their proportional contribution to total authorships. This exploration revealed DNA barcoding to be a highly international discipline, with growing participation by researchers in especially biodiverse nations. We briefly consider several of the challenges that may hinder further participation in genetics research, including access to training and molecular facilities as well as policy relating to the movement of genetic resources.

A nursing theory-guided framework for genetic and epigenetic research.

Science.gov (United States)

Maki, Katherine A; DeVon, Holli A

2018-04-01

The notion that genetics, through natural selection, determines innate traits has led to much debate and divergence of thought on the impact of innate traits on the human phenotype. The purpose of this synthesis was to examine how innate theory informs genetic research and how understanding innate theory through the lens of Martha Rogers' theory of unitary human beings can offer a contemporary view of how innate traits can inform epigenetic and genetic research. We also propose a new conceptual model for genetic and epigenetic research. The philosophical, theoretical, and research literatures were examined for this synthesis. We have merged philosophical and conceptual phenomena from innate theory with the theory of unitary beings into the University of Illinois at Chicago model for genetic and epigenetic research. Innate traits are the cornerstone of the framework but may be modified epigenetically by biological, physiological, psychological, and social determinants as they are transcribed. These modifiers serve as important links between the concept of innate traits and epigenetic modifications, and, like the theory of unitary human beings, the process is understood in the context of individual and environmental interaction that has the potential to evolve as the determinants change. © 2018 John Wiley & Sons Ltd.

Public and biobank participant attitudes toward genetic research participation and data sharing.

Science.gov (United States)

Lemke, A A; Wolf, W A; Hebert-Beirne, J; Smith, M E

2010-01-01

Research assessing attitudes toward consent processes for high-throughput genomic-wide technologies and widespread sharing of data is limited. In order to develop a better understanding of stakeholder views toward these issues, this cross-sectional study assessed public and biorepository participant attitudes toward research participation and sharing of genetic research data. Forty-nine individuals participated in 6 focus groups; 28 in 3 public focus groups and 21 in 3 NUgene biorepository participant focus groups. In the public focus groups, 75% of participants were women, 75% had some college education or more, 46% were African-American and 29% were Hispanic. In the NUgene focus groups, 67% of participants were women, 95% had some college education or more, and the majority (76%) of participants was Caucasian. Five major themes were identified in the focus group data: (a) a wide spectrum of understanding of genetic research; (b) pros and cons of participation in genetic research; (c) influence of credibility and trust of the research institution; (d) concerns about sharing genetic research data and need for transparency in the Policy for Sharing of Data in National Institutes of Health-Supported or Conducted Genome-Wide Association Studies; (e) a need for more information and education about genetic research. In order to increase public understanding and address potential concerns about genetic research, future efforts should be aimed at involving the public in genetic research policy development and in identifying or developing appropriate educational strategies to meet the public's needs.

CEDR: Comprehensive Epidemiologic Data Resource

Energy Technology Data Exchange (ETDEWEB)

1993-08-01

The Department of Energy (DOE) and its predecessor agencies have a long history of epidemiologic research programs. The main focus of these programs has been the Health and Mortality Study of the DOE work force. This epidemiologic study began in 1964 with a feasibility study of workers at the Hanford facility. Studies of other populations exposed to radiation have also been supported, including the classic epidemiologic study of radium dial painters and studies of atomic bomb survivors. From a scientific perspective, these epidemiologic research program have been productive, highly credible, and formed the bases for many radiological protection standards. Recently, there has been concern that, although research results were available, the data on which these results were based were not easily obtained by interested investigators outside DOE. Therefore, as part of an effort to integrate and broaden access to its epidemiologic information, the DOE has developed the Comprehensive Epidemiologic Data Resource (CEDR) Program. Included in this effort is the development of a computer information system for accessing the collection of CEDR data and its related descriptive information. The epidemiologic data currently available through the CEDAR Program consist of analytic data sets, working data sets, and their associated documentation files. In general, data sets are the result of epidemiologic studies that have been conducted on various groups of workers at different DOE facilities during the past 30 years.

International Lymphoma Epidemiology Consortium

Science.gov (United States)

The InterLymph Consortium, or formally the International Consortium of Investigators Working on Non-Hodgkin's Lymphoma Epidemiologic Studies, is an open scientific forum for epidemiologic research in non-Hodgkin's lymphoma.

The concept of human dignity in the ethics of genetic research.

Science.gov (United States)

Chan, David K

2015-05-01

Despite criticism that dignity is a vague and slippery concept, a number of international guidelines on bioethics have cautioned against research that is contrary to human dignity, with reference specifically to genetic technology. What is the connection between genetic research and human dignity? In this article, I investigate the concept of human dignity in its various historical forms, and examine its status as a moral concept. Unlike Kant's ideal concept of human dignity, the empirical or relational concept takes human dignity as something that is affected by one's circumstances and what others do. I argue that the dignity objection to some forms of genetic research rests on a view of human nature that gives humans a special status in nature - one that is threatened by the potential of genetic research to reduce individuals to their genetic endowment. I distinguish two main philosophical accounts of human nature. One of these, the Aristotelian view, is compatible with the use of genetic technology to help humans realize their inherent potential to a fuller extent. © 2014 John Wiley & Sons Ltd.

The effect of ethnicity and genetic ancestry on the epidemiology, clinical features and outcome of systemic lupus erythematosus.

Science.gov (United States)

Lewis, Myles J; Jawad, Ali S

2017-04-01

In this in-depth review, we examine the worldwide epidemiology of SLE and summarize current knowledge on the influence of race/ethnicity on clinical manifestations, disease activity, damage accumulation and outcome in SLE. Susceptibility to SLE has a strong genetic component, and trans-ancestral genetic studies have revealed a substantial commonality of shared genetic risk variants across different genetic ancestries that predispose to the development of SLE. The highest increased risk of developing SLE is observed in black individuals (incidence 5- to 9-fold increased, prevalence 2- to 3-fold increased), with an increased risk also observed in South Asians, East Asians and other non-white groups, compared with white individuals. Black, East Asian, South Asian and Hispanic individuals with SLE tend to develop more severe disease with a greater number of manifestations and accumulate damage from lupus more rapidly. Increased genetic risk burden in these populations, associated with increased autoantibody reactivity in non-white individuals with SLE, may explain the more severe lupus phenotype. Even after taking into account socio-economic factors, race/ethnicity remains a key determinant of poor outcome, such as end-stage renal failure and mortality, in SLE. Community measures to expedite diagnosis through increased awareness in at-risk racial/ethnic populations and ethnically personalized treatment algorithms may help in future to improve long-term outcomes in SLE. © The Author 2016. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Medical Genetics at McGill: The History of a Pioneering Research Group.

Science.gov (United States)

Canning, Christopher; Weisz, George; Tone, Andrea; Cambrosio, Alberto

2013-01-01

The McGill Group in Medical Genetics was formed in 1972, supported by the Medical Research Council and successor Canadian Institutes for Health Research until September 2009, making it the longest active biomedical research group in the history of Canada. We document the history of the McGill Group and situate its research within a broader history of medical genetics. Drawing on original oral histories with the Group's members, surviving documents, and archival materials, we explore how the Group's development was structured around epistemological trends in medical genetics, policy choices made by research agencies, and the development of genetics at McGill University and its hospitals.

mosaicQA - A General Approach to Facilitate Basic Data Quality Assurance for Epidemiological Research.

Science.gov (United States)

Bialke, Martin; Rau, Henriette; Schwaneberg, Thea; Walk, Rene; Bahls, Thomas; Hoffmann, Wolfgang

2017-05-29

Epidemiological studies are based on a considerable amount of personal, medical and socio-economic data. To answer research questions with reliable results, epidemiological research projects face the challenge of providing high quality data. Consequently, gathered data has to be reviewed continuously during the data collection period. This article describes the development of the mosaicQA-library for non-statistical experts consisting of a set of reusable R functions to provide support for a basic data quality assurance for a wide range of application scenarios in epidemiological research. To generate valid quality reports for various scenarios and data sets, a general and flexible development approach was needed. As a first step, a set of quality-related questions, targeting quality aspects on a more general level, was identified. The next step included the design of specific R-scripts to produce proper reports for metric and categorical data. For more flexibility, the third development step focussed on the generalization of the developed R-scripts, e.g. extracting characteristics and parameters. As a last step the generic characteristics of the developed R functionalities and generated reports have been evaluated using different metric and categorical datasets. The developed mosaicQA-library generates basic data quality reports for multivariate input data. If needed, more detailed results for single-variable data, including definition of units, variables, descriptions, code lists and categories of qualified missings, can easily be produced. The mosaicQA-library enables researchers to generate reports for various kinds of metric and categorical data without the need for computational or scripting knowledge. At the moment, the library focusses on the data structure quality and supports the assessment of several quality indicators, including frequency, distribution and plausibility of research variables as well as the occurrence of missing and extreme values. To

RESEARCH NOTE Molecular genetic analysis of consanguineous ...

Indian Academy of Sciences (India)

Navya

Molecular genetic analysis of consanguineous families with primary microcephaly ... Translational Research Institute, Academic Health System, Hamad Medical ..... bridging the gap between homozygosity mapping and deep sequencing.

Panel 1: Epidemiology and Diagnosis.

Science.gov (United States)

Homøe, Preben; Kværner, Kari; Casey, Janet R; Damoiseaux, Roger A M J; van Dongen, Thijs M A; Gunasekera, Hasantha; Jensen, Ramon G; Kvestad, Ellen; Morris, Peter S; Weinreich, Heather M

2017-04-01

Objective To create a literature review between 2011 and June 1, 2015, on advances in otitis media (OM) epidemiology and diagnosis (including relevant audiology studies). Data Sources Electronic search engines (PubMed, EMBASE, and Cochrane Library) with a predefined search strategy. Review Methods Articles with appropriate epidemiologic methodology for OM, including acute mastoiditis and eustachian tube dysfunction. Items included OM worldwide and in high-risk populations, OM-related hearing loss, news in OM diagnostics, prenatal risk factors and comorbidities, postnatal risk factors, genetics, microbiological epidemiology, guidelines, and quality of life. Conclusions Diagnostic evidence and genetic studies are increasing; guidelines are introduced worldwide; and there is evidence of benefit of pneumococcal conjugate vaccines. New risk factors and comordities are identified in the study period, and quality of life is affected in children and their families. Implications for Practice Chronic suppurative OM occurs worldwide and contributes to lifelong hearing loss. Uniform definitions are still lacking and should be provided. An association between HIV and chronic suppurative OM has been found. Tympanometry is recommended for diagnosis, with or without pneumatic otoscopy. Video otoscopy, algorithms, and validated questionnaires may assist clinicians. Childhood obesity is associated with OM. Heritability accounts for 20% to 50% of OM diagnoses. OM-prone children seem to produce weaker immunologic responses to pneumococcal conjugate vaccines. Clinicians tend to individualize treatment without adhering to guidelines.

Alzheimer’s disease is not “brain aging”: neuropathological, genetic, and epidemiological human studies

Science.gov (United States)

Head, Elizabeth; Schmitt, Frederick A.; Davis, Paulina R.; Neltner, Janna H.; Jicha, Gregory A.; Abner, Erin L.; Smith, Charles D.; Van Eldik, Linda J.; Kryscio, Richard J.; Scheff, Stephen W.

2011-01-01

Human studies are reviewed concerning whether “aging”-related mechanisms contribute to Alzheimer’s disease (AD) pathogenesis. AD is defined by specific neuropathology: neuritic amyloid plaques and neocortical neurofibrillary tangles. AD pathology is driven by genetic factors related not to aging per se, but instead to the amyloid precursor protein (APP). In contrast to genes involved in APP-related mechanisms, there is no firm connection between genes implicated in human “accelerated aging” diseases (progerias) and AD. The epidemiology of AD in advanced age is highly relevant but deceptively challenging to address given the low autopsy rates in most countries. In extreme old age, brain diseases other than AD approximate AD prevalence while the impact of AD pathology appears to peak by age 95 and decline thereafter. Many distinct brain diseases other than AD afflict older human brains and contribute to cognitive impairment. Additional prevalent pathologies include cerebrovascular disease and hippocampal sclerosis, both high-morbidity brain diseases that appear to peak in incidence later than AD chronologically. Because of these common brain diseases of extreme old age, the epidemiology differs between clinical “dementia” and the subset of dementia cases with AD pathology. Additional aging-associated mechanisms for cognitive decline such as diabetes and synapse loss have been linked to AD and these hypotheses are discussed. Criteria are proposed to define an “aging-linked” disease, and AD fails all of these criteria. In conclusion, it may be most fruitful to focus attention on specific pathways involved in AD rather than attributing it to an inevitable consequence of aging. PMID:21516511

Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data

Directory of Open Access Journals (Sweden)

Ka Chandran

2005-06-01

Full Text Available Abstract Background Hereditary hemochromatosis (HH is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE, and of its main mutation (C282Y, has radically altered the way to diagnose this disease. The aim of this study was to assess the impact of the HFE gene discovery on the clinical presentation and epidemiology of HH. Methods We studied our cohort of 415 patients homozygous for the C282Y allele and included in a phlebotomy program in a blood centre in western Brittany, France. Results In this cohort, 56.9% of the patients were male and 21.9% began their phlebotomy program before the implementation of the genetic test. A significant decrease in the sex ratio was noticed following implementation of this DNA test, from 3.79 to 1.03 (p -5, meaning that the proportion of diagnosed females relatives to males greatly increased. The profile of HH patients at diagnosis changed after the DNA test became available. Serum ferritin and iron values were lower and there was a reduced frequency of clinical signs displayed at diagnosis, particularly skin pigmentation (20.1 vs. 40.4%, OR = 0.37, p Conclusion This study highlights the importance of the HFE gene discovery, which has simplified the diagnosis of HH and modified its clinical presentation and epidemiology. This study precisely measures these changes. Enhanced diagnosis of HFE-related HH at an early stage and implementation of phlebotomy treatment are anticipated to maintain normal life expectancy for these patients.

[Ethical challenges of genetic manipulation and research with animals].

Science.gov (United States)

Rodríguez Yunta, Eduardo

2012-01-01

Research with animals presents ethical questions both for being used as models of human diseases and for being a prerequisite for trials in humans, as in the introduction of genetic modifications. Some of these questions refer to the fact that, as models, they do not fully represent the human condition; that conducting toxicity tests causes great harm to animals; that their nature is altered by genetic modifications and that introducing genetically modified organisms is a risk. The use of animals in research for the benefit of humans imposes the moral responsibility to respect them, not making them suffer unnecessarily, since they are living beings capable of feeling.

Towards non-conventional methods of designing register-based epidemiological studies: An application to pediatric research.

Science.gov (United States)

Gong, Tong; Brew, Bronwyn; Sjölander, Arvid; Almqvist, Catarina

2017-07-01

Various epidemiological designs have been applied to investigate the causes and consequences of fetal growth restriction in register-based observational studies. This review seeks to provide an overview of several conventional designs, including cohort, case-control and more recently applied non-conventional designs such as family-based designs. We also discuss some practical points regarding the application and interpretation of family-based designs. Definitions of each design, the study population, the exposure and the outcome measures are briefly summarised. Examples of study designs are taken from the field of low birth-weight research for illustrative purposes. Also examined are relative advantages and disadvantages of each design in terms of assumptions, potential selection and information bias, confounding and generalisability. Kinship data linkage, statistical models and result interpretation are discussed specific to family-based designs. When all information is retrieved from registers, there is no evident preference of the case-control design over the cohort design to estimate odds ratios. All conventional designs included in the review are prone to bias, particularly due to residual confounding. Family-based designs are able to reduce such bias and strengthen causal inference. In the field of low birth-weight research, family-based designs have been able to confirm a negative association not confounded by genetic or shared environmental factors between low birth weight and the risk of asthma. We conclude that there is a broader need for family-based design in observational research as evidenced by the meaningful contributions to the understanding of the potential causal association between low birth weight and subsequent outcomes.

Who to include in palliative care research? Consequences of different population definitions in palliative care epidemiology.

NARCIS (Netherlands)

Borgsteede, S.D.; Deliens, L.; Francke, A.L.; Stalman, W.A.B.; Willems, D.L.; Eijk, T.T.M. van; Wal, G. van der

2003-01-01

Object of the study: Epidemiological research into palliative care faces the problem of defining an adequate research population. Subjects in studies are alternately defined as patients receiving 'palliative care' , 'palliative treatment' or 'end of life care'. So far, it is not known how

Future needs in research on genetic sexing of Ceratitis capitata

International Nuclear Information System (INIS)

Seawright, J.A.

1997-01-01

The author makes suggestions on the direction of research for genetic sexing over the next several years and prepared the paper as a guide for discussion. The literature of genetic and cytogenetic studies on insects as a whole is the basis for most of the approaches that the genetic control community has used, but only a tiny fraction of the literature is directed at genetic sexing and most of that is limited to, small scale laboratory studies. The effort to use genetic sexing strains on the scale of mass rearing of medflies is unprecedented, and it is not surprising that a few problems have been encountered during implementation. Consideration of this fact leads to the conclusion that it is necessary to 'think big' and target the research. (author)

Mycobacterium bovis in Burkina Faso: epidemiologic and genetic links between human and cattle isolates.

Science.gov (United States)

Sanou, Adama; Tarnagda, Zekiba; Kanyala, Estelle; Zingué, Dezemon; Nouctara, Moumini; Ganamé, Zakaria; Combary, Adjima; Hien, Hervé; Dembele, Mathurin; Kabore, Antoinette; Meda, Nicolas; Van de Perre, Philippe; Neveu, Dorine; Bañuls, Anne Laure; Godreuil, Sylvain

2014-10-01

In sub-Saharan Africa, bovine tuberculosis (bTB) is a potential hazard for animals and humans health. The goal of this study was to improve our understanding of bTB epidemiology in Burkina Faso and especially Mycobacterium bovis transmission within and between the bovine and human populations. Twenty six M. bovis strains were isolated from 101 cattle carcasses with suspected bTB lesions during routine meat inspections at the Bobo Dioulasso and Ouagadougou slaughterhouses. In addition, 7 M. bovis strains were isolated from 576 patients with pulmonary tuberculosis. Spoligotyping, RDAf1 deletion and MIRU-VNTR typing were used for strains genotyping. The isolation of M. bovis strains was confirmed by spoligotyping and 12 spoligotype signatures were detected. Together, the spoligotyping and MIRU-VNTR data allowed grouping the 33 M. bovis isolates in seven clusters including isolates exclusively from cattle (5) or humans (1) or from both (1). Moreover, these data (genetic analyses and phenetic tree) showed that the M. bovis isolates belonged to the African 1 (Af1) clonal complex (81.8%) and the putative African 5 (Af5) clonal complex (18.2%), in agreement with the results of RDAf1 deletion typing. This is the first detailed molecular characterization of M. bovis strains from humans and cattle in Burkina Faso. The distribution of the two Af1 and putative Af5 clonal complexes is comparable to what has been reported in neighbouring countries. Furthermore, the strain genetic profiles suggest that M. bovis circulates across the borders and that the Burkina Faso strains originate from different countries, but have a country-specific evolution. The genetic characterization suggests that, currently, M. bovis transmission occurs mainly between cattle, occasionally between cattle and humans and potentially between humans. This study emphasizes the bTB risk in cattle but also in humans and the difficulty to set up proper disease control strategies in Burkina Faso.

Restless legs syndrome in Czech patients with multiple sclerosis: An epidemiological and genetic study

Czech Academy of Sciences Publication Activity Database

Vávrová, J.; Kemlink, D.; Šonka, K.; Havrdová, E.; Horáková, D.; Pardini, Barbara; Müller-Myhsok, B.; Winkelmann, J.

2012-01-01

Roč. 13, č. 7 (2012), s. 848-851 ISSN 1389-9457 R&D Projects: GA MZd NR8563 Grant - others:GA ČR(CZ) GD309/08/H079; GA MZd(CZ) NT12141 Institutional research plan: CEZ:AV0Z50390512 Keywords : Secondary restless legs syndrome * Multiple sclerosis * Genetic association study Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.487, year: 2012

Genetics of Human and Canine Dilated Cardiomyopathy

Directory of Open Access Journals (Sweden)

Siobhan Simpson

2015-01-01

Full Text Available Cardiovascular disease is a leading cause of death in both humans and dogs. Dilated cardiomyopathy (DCM accounts for a large number of these cases, reported to be the third most common form of cardiac disease in humans and the second most common in dogs. In human studies of DCM there are more than 50 genetic loci associated with the disease. Despite canine DCM having similar disease progression to human DCM studies into the genetic basis of canine DCM lag far behind those of human DCM. In this review the aetiology, epidemiology, and clinical characteristics of canine DCM are examined, along with highlighting possible different subtypes of canine DCM and their potential relevance to human DCM. Finally the current position of genetic research into canine and human DCM, including the genetic loci, is identified and the reasons many studies may have failed to find a genetic association with canine DCM are reviewed.

A review for detecting gene-gene interactions using machine learning methods in genetic epidemiology.

Science.gov (United States)

Koo, Ching Lee; Liew, Mei Jing; Mohamad, Mohd Saberi; Salleh, Abdul Hakim Mohamed

2013-01-01

Recently, the greatest statistical computational challenge in genetic epidemiology is to identify and characterize the genes that interact with other genes and environment factors that bring the effect on complex multifactorial disease. These gene-gene interactions are also denoted as epitasis in which this phenomenon cannot be solved by traditional statistical method due to the high dimensionality of the data and the occurrence of multiple polymorphism. Hence, there are several machine learning methods to solve such problems by identifying such susceptibility gene which are neural networks (NNs), support vector machine (SVM), and random forests (RFs) in such common and multifactorial disease. This paper gives an overview on machine learning methods, describing the methodology of each machine learning methods and its application in detecting gene-gene and gene-environment interactions. Lastly, this paper discussed each machine learning method and presents the strengths and weaknesses of each machine learning method in detecting gene-gene interactions in complex human disease.

A Review for Detecting Gene-Gene Interactions Using Machine Learning Methods in Genetic Epidemiology

Directory of Open Access Journals (Sweden)

Ching Lee Koo

2013-01-01

Full Text Available Recently, the greatest statistical computational challenge in genetic epidemiology is to identify and characterize the genes that interact with other genes and environment factors that bring the effect on complex multifactorial disease. These gene-gene interactions are also denoted as epitasis in which this phenomenon cannot be solved by traditional statistical method due to the high dimensionality of the data and the occurrence of multiple polymorphism. Hence, there are several machine learning methods to solve such problems by identifying such susceptibility gene which are neural networks (NNs, support vector machine (SVM, and random forests (RFs in such common and multifactorial disease. This paper gives an overview on machine learning methods, describing the methodology of each machine learning methods and its application in detecting gene-gene and gene-environment interactions. Lastly, this paper discussed each machine learning method and presents the strengths and weaknesses of each machine learning method in detecting gene-gene interactions in complex human disease.

Prune-belly syndrome: case series and review of the literature regarding early prenatal diagnosis, epidemiology, genetic factors, treatment, and prognosis.

Science.gov (United States)

Tonni, Gabriele; Ida, Vito; Alessandro, Ventura; Bonasoni, Maria Paola

2013-02-01

Prune-belly syndrome (PBS) is a rare congenital syndrome characterized by deficient abdominal muscles, urinary tract malformation, and in males, cryptorchidism and has an estimated incidence of 1 in 35,000 to 1 in 50,000 live births. The syndrome might be due to severe bladder outlet obstruction or to abdominal muscle deficiency secondary to a migrational defect of the lateral mesoblast between weeks 6 and 7 of pregnancy. The current review of the medical record reports a special focus on epidemiology, genetic factors, early prenatal diagnosis clusters, treatment, and prognosis of PBS.

The role of social networking sites in medical genetics research.

Science.gov (United States)

Reaves, Allison Cook; Bianchi, Diana W

2013-05-01

Social networking sites (SNS) have potential value in the field of medical genetics as a means of research subject recruitment and source of data. This article examines the current role of SNS in medical genetics research and potential applications for these sites in future studies. Facebook is the primary SNS considered, given the prevalence of its use in the United States and role in a small but growing number of studies. To date, utilization of SNS in medical genetics research has been primarily limited to three studies that recruited subjects from populations of Facebook users [McGuire et al. (2009); Am J Bioeth 9: 3-10; Janvier et al. (2012); Pediatrics 130: 293-298; Leighton et al. (2012); Public Health Genomics 15: 11-21]. These studies and a number of other medical and public health studies that have used Facebook as a context for recruiting research subjects are discussed. Approaches for Facebook-based subject recruitment are identified, including paid Facebook advertising, snowball sampling, targeted searching and posting. The use of these methods in medical genetics research has the potential to facilitate cost-effective research on both large, heterogeneous populations and small, hard-to-access sub-populations. Copyright © 2013 Wiley Periodicals, Inc.

Primer Part 1-The building blocks of epilepsy genetics.

Science.gov (United States)

Helbig, Ingo; Heinzen, Erin L; Mefford, Heather C

2016-06-01

This is the first of a two-part primer on the genetics of the epilepsies within the Genetic Literacy Series of the Genetics Commission of the International League Against Epilepsy. In Part 1, we cover the foundations of epilepsy genetics including genetic epidemiology and the range of genetic variants that can affect the risk for developing epilepsy. We discuss various epidemiologic study designs that have been applied to the genetics of the epilepsies including population studies, which provide compelling evidence for a strong genetic contribution in many epilepsies. We discuss genetic risk factors varying in size, frequency, inheritance pattern, effect size, and phenotypic specificity, and provide examples of how genetic risk factors within the various categories increase the risk for epilepsy. We end by highlighting trends in epilepsy genetics including the increasing use of massive parallel sequencing technologies. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

Epidemiology of idiopathic pulmonary fibrosis

Directory of Open Access Journals (Sweden)

Ley B

2013-11-01

Full Text Available Brett Ley, Harold R Collard Department of Medicine, Division of Pulmonary and Critical Care Medicine, University of California San Francisco, San Francisco, California, USA Abstract: Idiopathic pulmonary fibrosis is a chronic fibrotic lung disease of unknown cause that occurs in adults and has a poor prognosis. Its epidemiology has been difficult to study because of its rarity and evolution in diagnostic and coding practices. Though uncommon, it is likely underappreciated both in terms of its occurrence (ie, incidence, prevalence and public health impact (ie, health care costs and resource utilization. Incidence and mortality appear to be on the rise, and prevalence is expected to increase with the aging population. Potential risk factors include occupational and environmental exposures, tobacco smoking, gastroesophageal reflux, and genetic factors. An accurate understanding of its epidemiology is important, especially as novel therapies are emerging. Keywords: idiopathic pulmonary fibrosis, epidemiology, incidence, prevalence, mortality, risk factors

Mental illness and reduction of gun violence and suicide: bringing epidemiologic research to policy

Science.gov (United States)

Swanson, Jeffrey W.; McGinty, E. Elizabeth; Fazel, Seena; Mays, Vickie M.

2015-01-01

Purpose This article describes epidemiologic evidence concerning risk of gun violence and suicide linked to psychiatric disorders, in contrast to media-fueled public perceptions of the dangerousness of mentally ill individuals, and evaluates effectiveness of policies and laws designed to prevent firearms injury and mortality associated with serious mental illnesses and substance use disorders. Methods Research concerning public attitudes toward persons with mental illness is reviewed and juxtaposed with evidence from benchmark epidemiologic and clinical studies of violence and mental illness and of the accuracy of psychiatrists' risk assessments. Selected policies and laws designed to reduce gun violence in relation to mental illness are critically evaluated; evidence-based policy recommendations are presented. Results Media accounts of mass shootings by disturbed individuals galvanize public attention and reinforce popular belief that mental illness often results in violence. Epidemiologic studies show that the large majority of people with serious mental illnesses are never violent. However, mental illness is strongly associated with increased risk of suicide, which accounts for over half of US firearms–related fatalities. Conclusions Policymaking at the interface of gun violence prevention and mental illness should be based on epidemiologic data concerning risk to improve the effectiveness, feasibility, and fairness of policy initiatives. PMID:24861430

Mental illness and reduction of gun violence and suicide: bringing epidemiologic research to policy.

Science.gov (United States)

Swanson, Jeffrey W; McGinty, E Elizabeth; Fazel, Seena; Mays, Vickie M

2015-05-01

This article describes epidemiologic evidence concerning risk of gun violence and suicide linked to psychiatric disorders, in contrast to media-fueled public perceptions of the dangerousness of mentally ill individuals, and evaluates effectiveness of policies and laws designed to prevent firearms injury and mortality associated with serious mental illnesses and substance use disorders. Research concerning public attitudes toward persons with mental illness is reviewed and juxtaposed with evidence from benchmark epidemiologic and clinical studies of violence and mental illness and of the accuracy of psychiatrists' risk assessments. Selected policies and laws designed to reduce gun violence in relation to mental illness are critically evaluated; evidence-based policy recommendations are presented. Media accounts of mass shootings by disturbed individuals galvanize public attention and reinforce popular belief that mental illness often results in violence. Epidemiologic studies show that the large majority of people with serious mental illnesses are never violent. However, mental illness is strongly associated with increased risk of suicide, which accounts for over half of US firearms-related fatalities. Policymaking at the interface of gun violence prevention and mental illness should be based on epidemiologic data concerning risk to improve the effectiveness, feasibility, and fairness of policy initiatives. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

The State of Federal Research Funding in Genetics as Reflected by Members of the Genetics Society of America.

Science.gov (United States)

Rine, Jasper; Fagen, Adam P

2015-08-01

Scientific progress runs on the intellect, curiosity, and passion of its practitioners fueled by the research dollars of its sponsors. The concern over research funding in biology in general and genetics in particular led us to survey the membership of the Genetics Society of America for information about the federal support of genetics at the level of individual principal investigators. The results paint a mosaic of circumstances-some good, others not so good-that describes some of our present challenges with sufficient detail to suggest useful steps that could address the challenges. Copyright © 2015 by the Genetics Society of America.

[A review of thirty years of activity of the Research Program in Psychiatric Epidemiology (PEPSI) of the CONICET].

Science.gov (United States)

Pavlovsky, Federico

2003-01-01

This article summarizes the activity of the Programa de Investigaciones en Epidemiología Psiquiátrica (PEPSI) (Research Program in Psychiatric Epidemiology) of the CONICET, directed for more than thirty years by Fernando Pages Larraya. After an anthropologic psychiatric experience done in the Gran Chaco Gualamba, by the end of the 60s, Pages Larraya and his team developed the theory of Cultural Isoidias, zones into which the country could be divided for epidemiologic studies. This article summarizes some of the principal lines of investigation of this program which departures from an initial study of the prevalence of mental diseases in Argentina. Other lines of research (such as a study about marginality, about Alzheimer's disease, about alcoholism and about AIDS) are summarized very briefly so as to give the reader an idea about the enormous field of study embraced by the PEPSI.

Engaging Maori in Biobanking and Genetic Research: Legal, Ethical, and Policy Challenges

Directory of Open Access Journals (Sweden)

Angela Beaton

2015-06-01

Full Text Available Publically funded biobanking initiatives and genetic research should contribute towards reducing inequalities in health by reducing the prevalence and burden of disease. It is essential that Maori and other Indigenous populations share in health gains derived from these activities. The Health Research Council of New Zealand has funded a research project (2012-2015 to identify Maori perspectives on biobanking and genetic research, and to develop cultural guidelines for ethical biobanking and genetic research involving biospecimens. This review describes relevant values and ethics embedded in Maori indigenous knowledge, and how they may be applied to culturally safe interactions between biobanks, researchers, individual participants, and communities. Key issues of ownership, privacy, and consent are also considered within the legal and policy context that guides biobanking and genetic research practices within New Zealand. Areas of concern are highlighted and recommendations of international relevance are provided. To develop a productive environment for "next-generation" biobanking and genomic research,"‘next-generation" regulatory solutions will be required.

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

population stratification; ancestry informative markers (AIMs); race; ethnicity; genetic epidemiology; forensic genetics; Hispanics. ... Department of Microbiology, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029 ...

Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP project: study design and methods for pooling results of genetic epidemiological studies

Directory of Open Access Journals (Sweden)

Raimondi Sara

2012-08-01

Full Text Available Abstract Background For complex diseases like cancer, pooled-analysis of individual data represents a powerful tool to investigate the joint contribution of genetic, phenotypic and environmental factors to the development of a disease. Pooled-analysis of epidemiological studies has many advantages over meta-analysis, and preliminary results may be obtained faster and with lower costs than with prospective consortia. Design and methods Based on our experience with the study design of the Melanocortin-1 receptor (MC1R gene, SKin cancer and Phenotypic characteristics (M-SKIP project, we describe the most important steps in planning and conducting a pooled-analysis of genetic epidemiological studies. We then present the statistical analysis plan that we are going to apply, giving particular attention to methods of analysis recently proposed to account for between-study heterogeneity and to explore the joint contribution of genetic, phenotypic and environmental factors in the development of a disease. Within the M-SKIP project, data on 10,959 skin cancer cases and 14,785 controls from 31 international investigators were checked for quality and recoded for standardization. We first proposed to fit the aggregated data with random-effects logistic regression models. However, for the M-SKIP project, a two-stage analysis will be preferred to overcome the problem regarding the availability of different study covariates. The joint contribution of MC1R variants and phenotypic characteristics to skin cancer development will be studied via logic regression modeling. Discussion Methodological guidelines to correctly design and conduct pooled-analyses are needed to facilitate application of such methods, thus providing a better summary of the actual findings on specific fields.

Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies

Science.gov (United States)

2012-01-01

Background For complex diseases like cancer, pooled-analysis of individual data represents a powerful tool to investigate the joint contribution of genetic, phenotypic and environmental factors to the development of a disease. Pooled-analysis of epidemiological studies has many advantages over meta-analysis, and preliminary results may be obtained faster and with lower costs than with prospective consortia. Design and methods Based on our experience with the study design of the Melanocortin-1 receptor (MC1R) gene, SKin cancer and Phenotypic characteristics (M-SKIP) project, we describe the most important steps in planning and conducting a pooled-analysis of genetic epidemiological studies. We then present the statistical analysis plan that we are going to apply, giving particular attention to methods of analysis recently proposed to account for between-study heterogeneity and to explore the joint contribution of genetic, phenotypic and environmental factors in the development of a disease. Within the M-SKIP project, data on 10,959 skin cancer cases and 14,785 controls from 31 international investigators were checked for quality and recoded for standardization. We first proposed to fit the aggregated data with random-effects logistic regression models. However, for the M-SKIP project, a two-stage analysis will be preferred to overcome the problem regarding the availability of different study covariates. The joint contribution of MC1R variants and phenotypic characteristics to skin cancer development will be studied via logic regression modeling. Discussion Methodological guidelines to correctly design and conduct pooled-analyses are needed to facilitate application of such methods, thus providing a better summary of the actual findings on specific fields. PMID:22862891

[Scientific, practical and educational aspects of clinical epidemiology].

Science.gov (United States)

Briko, N I

2012-01-01

This article defines clinical epidemiology and describes its goal and objectives. The author claims that clinical epidemiology is a section of epidemiology which underlies the development of evidence-based standards for diagnostics, treatment and prevention and helps to select the appropriate algorithm for each clinical case. The study provides a comprehensive overview of the relationship between clinical epidemiology and evidence-based medicine. Epidemiological research is shown to be methodological basis of clinical epidemiology and evidence-based medicine with randomized controlled trials being the "gold standard" for obtaining reliable data. The key stages in the history of clinical epidemiology are discussed and further development of clinical epidemiology and the integration of courses on clinical epidemiology in education is outlined for progress in medical research and health care practice.

COELIAC DISEASE IN CENTRAL AND SOUTH AMERICA: time for a concerted approach to its epidemiology

Directory of Open Access Journals (Sweden)

Affifa FARRUKH

2015-06-01

Full Text Available Central and South America offer an opportunity to resolve some of the current controversies that surround the epidemiology of celiac disease. Through a concerted action which brings together clinicians, researchers and patients there is an opportunity to establish robust data sets which will allow detailed analysis of environmental and genetic factors. In this review available data from the continent together with data from Spain and Italy are drawn together to give a current picture in the hope that it will stimulate further research.

Identifying future research needs in landscape genetics: Where to from here?

Science.gov (United States)

Niko Balkenhol; Felix Gugerli; Sam A. Cushman; Lisette P. Waits; Aurelie Coulon; J. W. Arntzen; Rolf Holderegger; Helene H. Wagner

2009-01-01

Landscape genetics is an emerging interdisciplinary field that combines methods and concepts from population genetics, landscape ecology, and spatial statistics. The interest in landscape genetics is steadily increasing, and the field is evolving rapidly. We here outline four major challenges for future landscape genetic research that were identified during an...

Selection bias in genetic-epidemiological studies of cleft lip and palate

Energy Technology Data Exchange (ETDEWEB)

Christensen, K.; Holm, N.V.; Kock, K. (Odense Univ. (Denmark)); Olsen, J. (Aarhus Univ. (Denmark)); Fogh-Anderson, P.

1992-09-01

The possible impact of selection bias in genetic and epidemiological studies of cleft lip and palate was studied, using three nationwide ascertainment sources and an autopsy study in a 10% sample of the Danish population. A total of 670 cases were identified. Two national record systems, when used together, were found suitable for ascertaining facial cleft in live births. More than 95% ascertainment was obtained by means of surgical files for cleft lip (with or without cleft palate) without associated malformations/syndromes. However, surgical files could be a poor source for studying isolated cleft palate (CP) (only a 60% and biased ascertainment), and they cannot be used to study the prevalence of associated malformations or syndromes in facial cleft cases. The male:female ratio was 0.88 in surgically treated cases of CP and was 1.5 in nonoperated CP cases, making the overall sex ratio for CP 1.1 (95% confidence limits 0.86-1.4) The sex ratio for CP without associated malformation was 1.1 (95% confidence limits 0.84-1.6). One of the major test criteria in CP multifactorial threshold models (higher CP liability among male CP relatives) must be reconsidered, if other investigations confirm that a CP sex-ratio reversal to male predominance occurs when high ascertainment is achieved. 24 refs., 1 fig., 4 tabs.

Reporting of Human Genome Epidemiology (HuGE association studies: An empirical assessment

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Gwinn Marta

2008-05-01

Full Text Available Abstract Background Several thousand human genome epidemiology association studies are published every year investigating the relationship between common genetic variants and diverse phenotypes. Transparent reporting of study methods and results allows readers to better assess the validity of study findings. Here, we document reporting practices of human genome epidemiology studies. Methods Articles were randomly selected from a continuously updated database of human genome epidemiology association studies to be representative of genetic epidemiology literature. The main analysis evaluated 315 articles published in 2001–2003. For a comparative update, we evaluated 28 more recent articles published in 2006, focusing on issues that were poorly reported in 2001–2003. Results During both time periods, most studies comprised relatively small study populations and examined one or more genetic variants within a single gene. Articles were inconsistent in reporting the data needed to assess selection bias and the methods used to minimize misclassification (of the genotype, outcome, and environmental exposure or to identify population stratification. Statistical power, the use of unrelated study participants, and the use of replicate samples were reported more often in articles published during 2006 when compared with the earlier sample. Conclusion We conclude that many items needed to assess error and bias in human genome epidemiology association studies are not consistently reported. Although some improvements were seen over time, reporting guidelines and online supplemental material may help enhance the transparency of this literature.

Methodology in the epidemiological research of respiratory diseases and environmental pollution

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Simón Barquera

2002-02-01

Full Text Available There are complex and diverse methodological problems involved in the clinical and epidemiological study of respiratory diseases and their etiological factors. The association of urban growth, industrialization and environmental deterioration with respiratory diseases makes it necessary to pay more attention to this research area with a multidisciplinary approach. Appropriate study designs and statistical techniques to analyze and improve our understanding of the pathological events and their causes must be implemented to reduce the growing morbidity and mortality through better preventive actions and health programs. The objective of the article is to review the most common methodological problems in this research area and to present the most available statistical tools used.

Methodology in the epidemiological research of respiratory diseases and environmental pollution

Directory of Open Access Journals (Sweden)

Barquera Simón

2002-01-01

Full Text Available There are complex and diverse methodological problems involved in the clinical and epidemiological study of respiratory diseases and their etiological factors. The association of urban growth, industrialization and environmental deterioration with respiratory diseases makes it necessary to pay more attention to this research area with a multidisciplinary approach. Appropriate study designs and statistical techniques to analyze and improve our understanding of the pathological events and their causes must be implemented to reduce the growing morbidity and mortality through better preventive actions and health programs. The objective of the article is to review the most common methodological problems in this research area and to present the most available statistical tools used.

Symptom Cluster Research With Biomarkers and Genetics Using Latent Class Analysis.

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Conley, Samantha

2017-12-01

The purpose of this article is to provide an overview of latent class analysis (LCA) and examples from symptom cluster research that includes biomarkers and genetics. A review of LCA with genetics and biomarkers was conducted using Medline, Embase, PubMed, and Google Scholar. LCA is a robust latent variable model used to cluster categorical data and allows for the determination of empirically determined symptom clusters. Researchers should consider using LCA to link empirically determined symptom clusters to biomarkers and genetics to better understand the underlying etiology of symptom clusters. The full potential of LCA in symptom cluster research has not yet been realized because it has been used in limited populations, and researchers have explored limited biologic pathways.

Cancer Epidemiology Cohorts

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Cohort studies are fundamental for epidemiological research by helping researchers better understand the etiology of cancer and provide insights into the key determinants of this disease and its outcomes.

Physical Activity Research in Intellectual Disability: A Scoping Review Using the Behavioral Epidemiological Framework

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Pitchford, E. Andrew; Dixon-Ibarra, Alicia; Hauck, Janet L.

2018-01-01

Through a scoping review, the current state of physical activity research in people with intellectual disability was examined. A search of publications between 2000 and 2014 retrieved 362 articles that met inclusion criteria. Eligible studies were coded according to the Behavioral Epidemiological Framework. Of the articles identified, 48% examined…

Detection of Healthcare-Related Extended-Spectrum Beta-Lactamase-Producing Escherichia coli Transmission Events Using Combined Genetic and Phenotypic Epidemiology.

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Anne F Voor In 't Holt

Full Text Available Since the year 2000 there has been a sharp increase in the prevalence of healthcare-related infections caused by extended-spectrum beta-lactamase (ESBL-producing Escherichia coli. However, the high community prevalence of ESBL-producing E. coli isolates means that many E. coli typing techniques may not be suitable for detecting E. coli transmission events. Therefore, we investigated if High-throughput MultiLocus Sequence Typing (HiMLST and/or Raman spectroscopy were suitable techniques for detecting recent E. coli transmission events.This study was conducted from January until December 2010 at Erasmus University Medical Center, Rotterdam, the Netherlands. Isolates were typed using HiMLST and Raman spectroscopy. A genetic cluster was defined as two or more patients carrying identical isolates. We used predefined definitions for epidemiological relatedness to assess healthcare-related transmission.We included 194 patients; strains of 112 patients were typed using HiMLST and strains of 194 patients were typed using Raman spectroscopy. Raman spectroscopy identified 16 clusters while HiMLST identified 10 clusters. However, no healthcare-related transmission events were detected. When combining data from both typing techniques, we identified eight clusters (n = 34 patients, as well as 78 patients with a non-cluster isolate. However, we could not detect any healthcare-related transmission in these 8 clusters.Although clusters were genetically detected using HiMLST and Raman spectroscopy, no definite epidemiological relationships could be demonstrated which makes the possibility of healthcare-related transmission events highly unlikely. Our results suggest that typing of ESBL-producing E. coli using HiMLST and/or Raman spectroscopy is not helpful in detecting E. coli healthcare-related transmission events.

Cancer Genetics and Signaling | Center for Cancer Research

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The Cancer, Genetics, and Signaling (CGS) Group at the National Cancer Institute at Frederick  offers a competitive postdoctoral training and mentoring program focusing on molecular and genetic aspects of cancer. The CGS Fellows Program is designed to attract and train exceptional postdoctoral fellows interested in pursuing independent research career tracks. CGS Fellows participate in a structured mentoring program designed for scientific and career development and transition to independent positions.

Molecular Epidemiology and Genomics of Group A Streptococcus

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Bessen, Debra E.; McShan, W. Michael; Nguyen, Scott V.; Shetty, Amol; Agrawal, Sonia; Tettelin, Hervé

2014-01-01

Streptococcus pyogenes (group A streptococcus; GAS) is a strict human pathogen with a very high prevalence worldwide. This review highlights the genetic organization of the species and the important ecological considerations that impact its evolution. Recent advances are presented on the topics of molecular epidemiology, population biology, molecular basis for genetic change, genome structure and genetic flux, phylogenomics and closely related streptococcal species, and the long- and short-term evolution of GAS. The application of whole genome sequence data to addressing key biological questions is discussed. PMID:25460818

Epidemiology: Then and Now.

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Kuller, Lewis H

2016-03-01

Twenty-five years ago, on the 75th anniversary of the Johns Hopkins Bloomberg School of Public Health, I noted that epidemiologic research was moving away from the traditional approaches used to investigate "epidemics" and their close relationship with preventive medicine. Twenty-five years later, the role of epidemiology as an important contribution to human population research, preventive medicine, and public health is under substantial pressure because of the emphasis on "big data," phenomenology, and personalized medical therapies. Epidemiology is the study of epidemics. The primary role of epidemiology is to identify the epidemics and parameters of interest of host, agent, and environment and to generate and test hypotheses in search of causal pathways. Almost all diseases have a specific distribution in relation to time, place, and person and specific "causes" with high effect sizes. Epidemiology then uses such information to develop interventions and test (through clinical trials and natural experiments) their efficacy and effectiveness. Epidemiology is dependent on new technologies to evaluate improved measurements of host (genomics), epigenetics, identification of agents (metabolomics, proteomics), new technology to evaluate both physical and social environment, and modern methods of data collection. Epidemiology does poorly in studying anything other than epidemics and collections of numerators and denominators without specific hypotheses even with improved statistical methodologies. © The Author 2015. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

The Genetics of Obsessive-Compulsive Disorder and Tourette Syndrome: An Epidemiological and Pathway-Based Approach for Gene Discovery

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Grados, Marco A.

2010-01-01

Objective: To provide a contemporary perspective on genetic discovery methods applied to obsessive-compulsive disorder (OCD) and Tourette syndrome (TS). Method: A review of research trends in genetics research in OCD and TS is conducted, with emphasis on novel approaches. Results: Genome-wide association studies (GWAS) are now in progress in OCD…

Beliefs in genetic determinism and attitudes towards psychiatric genetic research: psychometric scale properties, construct associations, demographic correlates, and cross-cultural comparisons.

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Voracek, Martin; Swami, Viren; Loibl, Lisa Mariella; Furnham, Adrian

2007-12-01

Using two new scales, this study examined beliefs in genetic determinism and attitudes towards psychiatric genetic research in student samples from Austria, Malaysia, Romania, and the United Kingdom. For both constructs, effects of culture were detectable, whereas those related to key demographics were either small and inconsistent across samples (political orientation and religiosity) or zero (sex and age). Judged from factorial dimensionality and internal consistency, the psychometric properties of both scales were satisfactory. Belief in genetic determinism had lower prevalence and corresponded only modestly to positive attitudes towards psychiatric genetic research which had higher prevalence. The correlations of both constructs with a preference of inequality among social groups (social dominance orientation) were modest and inconsistent across samples. Both scales appear appropriate for cross-cultural applications, in particular for research into lay theories and public perceptions regarding genetic vs environmental effects on human behavior, mental disorders, and behavioral and psychiatric genetic research related to these.

Persisting problems related to race and ethnicity in public health and epidemiology research

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Jean-Claude Moubarac

2013-02-01

Full Text Available A recent and comprehensive review of the use of race and ethnicity in research that address health disparities in epidemiology and public health is provided. First it is described the theoretical basis upon which race and ethnicity differ drawing from previous work in anthropology, social science and public health. Second, it is presented a review of 280 articles published in high impacts factor journals in regards to public health and epidemiology from 2009-2011. An analytical grid enabled the examination of conceptual, theoretical and methodological questions related to the use of both concepts. The majority of articles reviewed were grounded in a theoretical framework and provided interpretations from various models. However, key problems identified include a a failure from researchers to differentiate between the concepts of race and ethnicity; b an inappropriate use of racial categories to ascribe ethnicity; c a lack of transparency in the methods used to assess both concepts; and d failure to address limits associated with the construction of racial or ethnic taxonomies and their use. In conclusion, future studies examining health disparities should clearly establish the distinction between race and ethnicity, develop theoretically driven research and address specific questions about the relationships between race, ethnicity and health. One argue that one way to think about ethnicity, race and health is to dichotomize research into two sets of questions about the relationship between human diversity and health.

Employees' perspectives on ethically important aspects of genetic research participation: a pilot study.

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Roberts, Laura Weiss; Warner, Teddy D; Geppert, Cynthia M A; Rogers, Melinda; Green Hammond, Katherine A

2005-01-01

Insights from genetic research may greatly improve our understanding of physical and mental illnesses and assist in the prevention of disease. Early experience with genetic information suggests that it may lead to stigma, discrimination, and other psychosocial harms, however, and this may be particularly salient in some settings, such as the workplace. Despite the importance of these issues, little is known about how healthy adults, including workers, perceive and understand ethically important issues in genetic research pertaining to physical and mental illness. We developed, pilot tested, and administered a written survey and structured interview to 63 healthy working adults in 2 settings. For this paper, we analyzed a subset of items that assessed attitudes toward ethically relevant issues related to participation in genetic research on physical and mental illness, such as its perceived importance, its acceptability for various populations, and appropriate motivations for participation. Our respondents strongly endorsed the importance of physical and mental illness genetic research. They viewed participation as somewhat to very acceptable for all 12 special population groups we asked about, including persons with mental illness. They perceived more positives than negatives in genetic research participation, giving neutral responses regarding potential risks. They affirmed many motivations for participation to varying degrees. Men tended to affirm genetic research participation importance, acceptability, and motivations more strongly than women. Healthy working persons may be willing partners in genetic research related to physical and mental illnesses in coming years. This project suggests the feasibility and value of evidence-based ethics inquiry, although further study is necessary. Evidence regarding stakeholders' perspectives on ethically important issues in science may help in the development of research practices and policy.

The Genetic and Environmental Factors for Keratoconus

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Ariela Gordon-Shaag

2015-01-01

Full Text Available Keratoconus (KC is the most common cornea ectatic disorder. It is characterized by a cone-shaped thin cornea leading to myopia, irregular astigmatism, and vision impairment. It affects all ethnic groups and both genders. Both environmental and genetic factors may contribute to its pathogenesis. This review is to summarize the current research development in KC epidemiology and genetic etiology. Environmental factors include but are not limited to eye rubbing, atopy, sun exposure, and geography. Genetic discoveries have been reviewed with evidence from family-based linkage analysis and fine mapping in linkage region, genome-wide association studies, and candidate genes analyses. A number of genes have been discovered at a relatively rapid pace. The detailed molecular mechanism underlying KC pathogenesis will significantly advance our understanding of KC and promote the development of potential therapies.

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics. Shanker Jayashree. Articles written in Journal of Genetics. Volume 94 Issue 3 September 2015 pp 539-549 Review Article. Genetic epidemiology of coronary artery disease: an Asian Indian perspective · Shanker Jayashree Maitra Arindam Kakkar V. Vijay · More Details Abstract Fulltext ...

Can Research on the Genetics of Intelligence Be "Socially Neutral"?

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Roberts, Dorothy

2015-01-01

The history of research on the genetics of intelligence is fraught with social bias. During the eugenics era, the hereditary theory of intelligence justified policies that encouraged the proliferation of favored races and coercively stemmed procreation by disfavored ones. In the 1970s, Berkeley psychologist Arthur Jensen argued that black students' innate cognitive inferiority limited the efficacy of federal education programs. The 1994 controversial bestseller The Bell Curve, by Richard J. Herrnstein and Charles Murray, rehashed the claim that race and class disparities stem from immutable differences in inherited intelligence, which could not be eliminated through social interventions. Today most scientists studying the genetics of intelligence distance themselves from this history of social bias by arguing that their research need not investigate intellectual differences between social groups. Rather, they argue, examining the heritability of intelligence can be socially neutral and may even help to reduce social inequities. I argue, however, that research on the genetics of intelligence cannot be socially neutral. Even if we divorce the heritability of intelligence from a eugenicist mission, measuring intelligence remains useful only as a gage of individuals' appropriate positions in society. Research into the genetics of intelligence ultimately helps to determine individuals' inherited capacity for particular social positions, even when researchers aim to modify the effects of inheritance. © 2015 The Hastings Center.

Infantile hydrocephalus: a review of epidemiology, classification and causes

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Tully, Hannah M; Dobyns, William B

2015-01-01

Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1,000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research. PMID:24932902

Clinico-epidemiologic features of oculocutaneous albinism in ...

African Journals Online (AJOL)

Background: Oculocutaneous albinism (OCA) is a genetically heterogeneous group of disorders characterized by the absence or reduced pigmentation of the skin, hair and eyes. To assess the clinico-epidemiologic features of different forms of OCA among Egyptian patients, we performed a retrospective study to determine ...

Beliefs and attitudes towards participating in genetic research – a population based cross-sectional study

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Kerath Samantha M

2013-02-01

Full Text Available Abstract Background Biobanks have the potential to offer a venue for chronic disease biomarker discovery, which would allow for disease early detection and for identification of carriers of a certain predictor biomarker. To assess the general attitudes towards genetic research and participation in biobanks in the Long Island/Queens area of New York, and what factors would predict a positive view of such research, participants from the NSLIJ hospital system were surveyed. Methods Participants were recruited at six hospital centers in the NSLIJ system during the summers of 2009 and again in 2011 (n = 1,041. Those who opted to participate were given a questionnaire containing 22 questions assessing demographics, lifestyle and attitudes towards genetic research. These questions addressed individual participant’s beliefs about the importance of genetic research, willingness to participate in genetic research themselves, and their views on informed consent issues. Results Respondents took a generally positive view of genetic research in general, as well as their own participation in such research. Those with reservations were most likely to cite concerns over the privacy of their medical and genetic information. Those who were married tended to view genetic research as important, while those in the younger age group viewed it as less important. Prior blood donation of respondents was found to be a predictor of their approval for genetic research. Demographic factors were not found to be predictive of personal willingness to participate in genetic research, or of approval for the opt-out approach to consent. Conclusions While respondents were generally inclined to approve of genetic research, and those who disapproved did not do so based on an underlying moral objection to such research, there is a disconnect between the belief in the importance of genetic research and the willingness of individuals to participate themselves. This indicates a

Do gender and personality traits (BFI-10) influence attitude towards genetic research?

DEFF Research Database (Denmark)

Sudzina, Frantisek

2016-01-01

There is a continuing trend of making genetic research commercially available. It is not only 23andme that offers various types of genetic tests anymore. People do not need to rely on doctor's opinion, they can purchase genetic testing kits and test themselves. Unfortunately, not all available te...... tests are reliable; as the case of Theranos showed recently. The paper aims to investigate if there is any impact of gender and of personality traits on attitude towards genetic research. Big Five Inventory is used to measure personality traits....

Mycobacterium bovis in Burkina Faso: epidemiologic and genetic links between human and cattle isolates.

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Adama Sanou

2014-10-01

Full Text Available In sub-Saharan Africa, bovine tuberculosis (bTB is a potential hazard for animals and humans health. The goal of this study was to improve our understanding of bTB epidemiology in Burkina Faso and especially Mycobacterium bovis transmission within and between the bovine and human populations.Twenty six M. bovis strains were isolated from 101 cattle carcasses with suspected bTB lesions during routine meat inspections at the Bobo Dioulasso and Ouagadougou slaughterhouses. In addition, 7 M. bovis strains were isolated from 576 patients with pulmonary tuberculosis. Spoligotyping, RDAf1 deletion and MIRU-VNTR typing were used for strains genotyping. The isolation of M. bovis strains was confirmed by spoligotyping and 12 spoligotype signatures were detected. Together, the spoligotyping and MIRU-VNTR data allowed grouping the 33 M. bovis isolates in seven clusters including isolates exclusively from cattle (5 or humans (1 or from both (1. Moreover, these data (genetic analyses and phenetic tree showed that the M. bovis isolates belonged to the African 1 (Af1 clonal complex (81.8% and the putative African 5 (Af5 clonal complex (18.2%, in agreement with the results of RDAf1 deletion typing.This is the first detailed molecular characterization of M. bovis strains from humans and cattle in Burkina Faso. The distribution of the two Af1 and putative Af5 clonal complexes is comparable to what has been reported in neighbouring countries. Furthermore, the strain genetic profiles suggest that M. bovis circulates across the borders and that the Burkina Faso strains originate from different countries, but have a country-specific evolution. The genetic characterization suggests that, currently, M. bovis transmission occurs mainly between cattle, occasionally between cattle and humans and potentially between humans. This study emphasizes the bTB risk in cattle but also in humans and the difficulty to set up proper disease control strategies in Burkina Faso.

Insights into the genetics of gastroesophageal reflux disease (GERD) and GERD-related disorders.

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Böhmer, A C; Schumacher, J

2017-02-01

Gastroesophageal reflux disease (GERD) is associated with obesity and hiatal hernia, and often precedes the development of Barrett's esophagus (BE) and esophageal adenocarcinoma (EA). Epidemiological studies show that the global prevalence of GERD is increasing. GERD is a multifactorial disease with a complex genetic architecture. Genome-wide association studies (GWAS) have provided initial insights into the genetic background of GERD. The present review summarizes current knowledge of the genetics of GERD and a possible genetic overlap between GERD and BE and EA. The review discusses genes and cellular pathways that have been implicated through GWAS, and provides an outlook on how future molecular research will enhance understanding of GERD pathophysiology. © 2017 John Wiley & Sons Ltd.

Epidemiology of hemoglobinopathies and thalassemias in individuals referred to the haematology research centre, Shiraz University of Medical Sciences, Shiraz, Iran from 2006 to 2011.

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Haghpanah, Sezaneh; Ramzi, Mani; Zakerinia, Maryam; Nourani Khojasteh, Habib; Haghshenas, Mansour; Rezaei, Narges; Moayed, Vida; Rezaei, Alireza; Karimi, Mehran

2014-01-01

Hemoglobinopathies and thalassemias are the most frequent genetic hereditary disorders with an increasing global health burden, especially in low- and middle-income countries. We aimed to determine the epidemiologic pattern of hemoglobinopathies and thalassemias in individuals referred to the Haematology Research Centre, Shiraz University of Medical Sciences, Shiraz, Iran, which is the most important referral center in Southern Iran during 2006 to 2011. The most frequent abnormality was β-thalassemia (β-thal) minor (24.0%), followed by α-thalassemia (α-thal) trait (10.0%), hemoglobin (Hb) S trait (4.0%) and Hb D-Punjab trait (4.0%). Because this center is a referral center, we detected a higher prevalence compared to the normal population; however, these data could help policymakers and health service providers to better programming for prevention of births affected with Hb disorders.

9th International Conference on Malignancies in AIDS and Other Acquired Immunodeficiencies: Basic,Epidemiologic and Clinical Research

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Summary of speakers and events from the 2005 ICMAOI conference, focused on presenting basic, epidemiologic, and clinical aspects of research on malignancies in HIV-infected and other immunosuppressed individuals.

10th International Conference on Malignancies in AIDS and Other Acquired Immunodeficiencies: Basic, Epidemiologic and Clinical Research

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Summary of speakers and events from the 2006 ICMAOI conference, focused on presenting basic, epidemiologic, and clinical aspects of research on malignancies in HIV-infected and other immunosuppressed individuals.

4th International Conference on Malignancies in AIDS and Other Acquired Immunodeficiencies: Basic,Epidemiologic and Clinical Research

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Summary of speakers and events from the 2000 ICMAOI conference, focused on presenting basic, epidemiologic, and clinical aspects of research on malignancies in HIV-infected and other immunosuppressed individuals.

5th International Conference on Malignancies in AIDS and Other Acquired Immunodeficiencies: Basic,Epidemiologic and Clinical Research

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Summary of speakers and events from the 2005 ICMAOI conference, focused on presenting basic, epidemiologic, and clinical aspects of research on malignancies in HIV-infected and other immunosuppressed individuals.

3rd International Conference on Malignancies in AIDS and Other Acquired Immunodeficiencies: Basic,Epidemiologic and Clinical Research

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Summary of speakers and events from the 1999 ICMAOI conference, focused on presenting basic, epidemiologic, and clinical aspects of research on malignancies in HIV-infected and other immunosuppressed individuals.

7th International Conference on Malignancies in AIDS and Other Acquired Immunodeficiencies: Basic,Epidemiologic and Clinical Research

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Summary of speakers and events from the 2003 ICMAOI conference, focused on presenting basic, epidemiologic, and clinical aspects of research on malignancies in HIV-infected and other immunosuppressed individuals.

6th International Conference on Malignancies in AIDS and Other Acquired Immunodeficiencies: Basic,Epidemiologic and Clinical Research

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Summary of speakers and events from the 2002 ICMAOI conference, focused on presenting basic, epidemiologic, and clinical aspects of research on malignancies in HIV-infected and other immunosuppressed individuals.

The Genetics of Stress-Related Disorders: PTSD, Depression, and Anxiety Disorders

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Smoller, Jordan W

2016-01-01

Research into the causes of psychopathology has largely focused on two broad etiologic factors: genetic vulnerability and environmental stressors. An important role for familial/heritable factors in the etiology of a broad range of psychiatric disorders was established well before the modern era of genomic research. This review focuses on the genetic basis of three disorder categories—posttraumatic stress disorder (PTSD), major depressive disorder (MDD), and the anxiety disorders—for which environmental stressors and stress responses are understood to be central to pathogenesis. Each of these disorders aggregates in families and is moderately heritable. More recently, molecular genetic approaches, including genome-wide studies of genetic variation, have been applied to identify specific risk variants. In this review, I summarize evidence for genetic contributions to PTSD, MDD, and the anxiety disorders including genetic epidemiology, the role of common genetic variation, the role of rare and structural variation, and the role of gene–environment interaction. Available data suggest that stress-related disorders are highly complex and polygenic and, despite substantial progress in other areas of psychiatric genetics, few risk loci have been identified for these disorders. Progress in this area will likely require analysis of much larger sample sizes than have been reported to date. The phenotypic complexity and genetic overlap among these disorders present further challenges. The review concludes with a discussion of prospects for clinical translation of genetic findings and future directions for research. PMID:26321314

Epidemiología de campo y epidemiología social Field epidemiology and social epidemiology

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Javier Segura del Pozo

2006-03-01

changing epistemological, methodological and practice grounds, beginning with field epidemiologists teaching programmes. Field epidemiology would tend to act in an absent theoretical frame. On the other hand, social epidemiology would tend to prioritize theoretical developments (thinking and research about social determinants without correspondent action, because of the limits to change public policies. Other differences are found at intervention level (micro-macrospace, its aim (outbreak control vs. inequalities control and the way to communicate with society. They are similar in the methodological concern, the predominance of orientation based on positivism and framed through statistic methods, but in process of epistemological opening, the stress experienced between the alternative relationship to a virtual world of data bases or to the real society, their peripherical situation in relation of the political, social, institutional and professional system and the tendency to professional frustration. Finally, we ask ten questions to the field epidemiologists related with their present practice, in order to consider if they are developing social epidemiology, and propose some changes in epidemiologist teaching and practice.

How to deal with continuous and dichotomic outcomes in epidemiological research: linear and logistic regression analyses

NARCIS (Netherlands)

Tripepi, Giovanni; Jager, Kitty J.; Stel, Vianda S.; Dekker, Friedo W.; Zoccali, Carmine

2011-01-01

Because of some limitations of stratification methods, epidemiologists frequently use multiple linear and logistic regression analyses to address specific epidemiological questions. If the dependent variable is a continuous one (for example, systolic pressure and serum creatinine), the researcher

Stuttering: Clinical and research update.

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Perez, Hector R; Stoeckle, James H

2016-06-01

To provide an update on the epidemiology, genetics, pathophysiology, diagnosis, and treatment of developmental stuttering. The MEDLINE and Cochrane databases were searched for past and recent studies on the epidemiology, genetics, pathophysiology, diagnosis, and treatment of developmental stuttering. Most recommendations are based on small studies, limited-quality evidence, or consensus. Stuttering is a speech disorder, common in persons of all ages, that affects normal fluency and time patterning of speech. Stuttering has been associated with differences in brain anatomy, functioning, and dopamine regulation thought to be due to genetic causes. Attention to making a correct diagnosis or referral in children is important because there is growing consensus that early intervention with speech therapy for children who stutter is critical. For adults, stuttering can be associated with substantial psychosocial morbidity including social anxiety and low quality of life. Pharmacologic treatment has received attention in recent years, but clinical evidence is limited. The mainstay of treatment for children and adults remains speech therapy. A growing body of research has attempted to uncover the pathophysiology of stuttering. Referral for speech therapy remains the best option for children and adults. Copyright© the College of Family Physicians of Canada.

Trends in population-based studies of human genetics in infectious diseases.

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Rowell, Jessica L; Dowling, Nicole F; Yu, Wei; Yesupriya, Ajay; Zhang, Lyna; Gwinn, Marta

2012-01-01

Pathogen genetics is already a mainstay of public health investigation and control efforts; now advances in technology make it possible to investigate the role of human genetic variation in the epidemiology of infectious diseases. To describe trends in this field, we analyzed articles that were published from 2001 through 2010 and indexed by the HuGE Navigator, a curated online database of PubMed abstracts in human genome epidemiology. We extracted the principal findings from all meta-analyses and genome-wide association studies (GWAS) with an infectious disease-related outcome. Finally, we compared the representation of diseases in HuGE Navigator with their contributions to morbidity worldwide. We identified 3,730 articles on infectious diseases, including 27 meta-analyses and 23 GWAS. The number published each year increased from 148 in 2001 to 543 in 2010 but remained a small fraction (about 7%) of all studies in human genome epidemiology. Most articles were by authors from developed countries, but the percentage by authors from resource-limited countries increased from 9% to 25% during the period studied. The most commonly studied diseases were HIV/AIDS, tuberculosis, hepatitis B infection, hepatitis C infection, sepsis, and malaria. As genomic research methods become more affordable and accessible, population-based research on infectious diseases will be able to examine the role of variation in human as well as pathogen genomes. This approach offers new opportunities for understanding infectious disease susceptibility, severity, treatment, control, and prevention.

A possible correlation between the host genetic background in the epidemiology of Hepatitis B virus in the Amazon region of Brazil

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A. K. C. R. Santos

1995-08-01

Full Text Available The Amazon region of Brazil is an area of great interest because of the large distribution of hepatitis B virus in specific Western areas. Seven urban communities and 24 Indian groups were visited in a total of 4,244 persons. Each individual was interviewed in order to obtain demographic and familial information. Whole blood was collected for serology and genetic determinations. Eleven genetic markers and three HBV markers were tested. Among the most relevant results it was possible to show that (i there was a large variation of previous exposure to HBV in both urban and non-urban groups ranging from 0 to 59.2%; (ii there was a different pattern of epidemiological distribution of HBV that was present even among a same linguistic Indian group, with mixed patterns of correlation between HBsAg and anti-HBs and (iii the prevalence of HBV markers (HBsAg and anti-HBs were significantly higher (P=0.0001 among the Indian population (18.8% than the urban groups (12.5%. Its possible that the host genetic background could influence and modulate the replication of the virus in order to generate HB carrier state.

Advancing ecological understandings through technological transformations in noninvasive genetics

Science.gov (United States)

Albano Beja-Pereira; Rita Oliveira; Paulo C. Alves; Michael K. Schwartz; Gordon Luikart

2009-01-01

Noninvasive genetic approaches continue to improve studies in molecular ecology, conservation genetics and related disciplines such as forensics and epidemiology. Noninvasive sampling allows genetic studies without disturbing or even seeing the target individuals. Although noninvasive genetic sampling has been used for wildlife studies since the 1990s, technological...

Annual report of Radiation Effects Research Foundation, April 1, 1993 - March 31, 1994

International Nuclear Information System (INIS)

1995-01-01

The circumstances that the move of the Hiroshima facilities is in the state of reservation due to the budget reduction of USA government are reported. As to the investigation and research activities, international cooperation has increased remarkably. The council resolved to request United Nations that it designates the Radiation Effects Research Foundation to the organ for inquiring about the effect of radiation on health and gives aid. The change of directors is reported. The research works in fiscal 1993 in Departments of Epidemiology, Pathological Epidemiology, Statistics, Clinical Research (in Hiroshima and Nagasaki), Genetic Biochemical Laboratory and Cell Genetics Laboratory of Genetics Department, Radiation Biology, Radiation Biology (in Nagasaki) are reported. The trend of the research works in fiscal 1994 in respective Departments is described. As to the plan of Research Information Center in fiscal 1994, the abolishment of large computer, the extension of PC network, data base management and the computer processing of office works are described. As to the plan of Research Information Center in fiscal 1995, the completion of the network connection of all computers, the expansion of the data base to input major source data sets, and the introduction of software so as to utilize and retrieve data easily are expected. The abstracts of new research plan papers and the manuscripts contributed to scientific journals are collected. (K.I.)

Survey Definitions of Gout for Epidemiologic Studies: Comparison With Crystal Identification as the Gold Standard

NARCIS (Netherlands)

Dalbeth, N.; Schumacher, H.R.; Fransen, J.; Neogi, T.; Jansen, T.L; Brown, M.; Louthrenoo, W.; Vazquez-Mellado, J.; Eliseev, M.; McCarthy, G.; Stamp, L.K.; Perez-Ruiz, F.; Sivera, F.; Ea, H.K.; Gerritsen, M.; Scire, C.A.; Cavagna, L.; Lin, C.; Chou, Y.Y.; Tausche, A.K.; Rocha Castelar-Pinheiro, G. da; Janssen, M; Chen, J.H.; Cimmino, M.A.; Uhlig, T.; Taylor, W.J.

2016-01-01

OBJECTIVE: To identify the best-performing survey definition of gout from items commonly available in epidemiologic studies. METHODS: Survey definitions of gout were identified from 34 epidemiologic studies contributing to the Global Urate Genetics Consortium (GUGC) genome-wide association study.

After epidemiological research: what next? Community action for health promotion.

Science.gov (United States)

Cwikel, J G

1994-01-01

The underlying purpose of all epidemiological research is ultimately to use inferences in order to prevent disease and promote health and well-being. Effective skills in translating results into appropriate policy, programs, and interventions are inherently tricky, and often politically controversial. Generally they are not taught to epidemiologists formally, even though they are a traditionally part of public health practice. To move from findings to policy change requires that the informed and committed epidemiologist should known how to: (1) organize affected parties to negotiate successfully with government and industry; (2) activate populations at risk to protect their health (3) communicate responsibly with lay persons about their health risks so as to encourage effective activism; (4) collaborate with other professionals to achieve disease prevention and health promotion goals. The paper presents and discusses four case studies to illustrate these strategies: (1) the grass-roots social action that was the response of the community to the environmental contamination at Love Canal, New York; (2) mobilization of recognized leaders within the gay community to disseminate HIV risk reduction techniques; (3) collaboration with an existing voluntary organization interested in community empowerment through health promotion in a Chicago slum by using existing hospital, emergency room admissions, and local motor vehicle accident data; (4) a self-help group, MADD (mothers against drunk driving) which fought to change public policy to limit and decrease drunk driving. In addition, the importance of multidisciplinary collaboration and responsible communication with the public is emphasized. Factors that limit the ability of the epidemiologist to move into public health action are discussed, including who owns the research findings, what is the degree of scientific uncertainty, and the cost-benefit balance of taking affirmative public action. Putting epidemiological

Setting Research Priorities for HIV/AIDS-related research in a post-graduate training programme: lessons learnt from the Nigeria Field Epidemiology and Laboratory Training Programme scientific workshop

Science.gov (United States)

Poggensee, Gabriele; Waziri, Ndadilnasiya Endie; Bashorun, Adebobola; Nguku, Patrick Mboya; Fawole, Olufunmilayo Ibitola; Sabitu, Kabir

2014-01-01

In Nigeria the current prevalence of HIV is 4.1% with over 3.5 million infected and estimated 1.5 million in need of anti-retroviral treatment. Epidemiological and implementation studies are necessary for monitoring and evaluation of interventions. To define research areas which can be addressed by participants of the Nigeria Field Epidemiology and Training Programme (NFELTP) a workshop was held in April 2013 in Abuja, Nigeria. Priority research areas were identified using criteria lists for ranking of the relevance of research questions. Based on a research matrix, NFELTP residents developed the aims and objectives, study design for HIV-related research proposals. This workshop was the first workshop held by the NFELTP to establish an inventory of research questions which can be addressed by the residents within their training period. This inventory will help to increase HIV/AIDS-related activities of NFELTP which are in accordance with research needs in Nigeria and PEPFAR objectives. PMID:25426209

Research and Technology Development for Genetic Improvement of Switchgrass

Energy Technology Data Exchange (ETDEWEB)

Kausch, Albert [Univ. of Rhode Island, Kingston, RI (United States); Rhodes, Richard [Univ. of Rhode Island, Kingston, RI (United States)

2017-05-02

This research adds to the understanding of switchgrass genetics and the increasing of biomass relevant to production of bioenergy. Switchgrass, Panicum virgatum L., and its related species are well known as potential bioenergy crops since the early 1990s. There are global economic, political, US national security and environmental pressures to increase renewable biofuel production and utilization to offset gasoline and diesel fuel use and climate change, especially in the liquid fuel transportation sector. To realize the potential of bioenergy crops, rapid genetic improvement of the most promising perennial grass feedstocks, such as switchgrass, are anticipated by current genomics, association genetics, marker assisted breeding, hybrid plant development, advanced tissue culture, conventional genetics and other approaches to increase yield, processability, and regional adaptation. The technical effectiveness and economic feasibility of the methods or techniques investigated are demonstrated by several publications, presentations and patents produced as an outcome and deliverable of this research. This project is of a broad benefit to the public not only through the dissemination of this information but also to the development of new methods which will be applied to future bioenergy crop improvement as well as other crops.

Biomedical databases: protecting privacy and promoting research.

Science.gov (United States)

Wylie, Jean E; Mineau, Geraldine P

2003-03-01

When combined with medical information, large electronic databases of information that identify individuals provide superlative resources for genetic, epidemiology and other biomedical research. Such research resources increasingly need to balance the protection of privacy and confidentiality with the promotion of research. Models that do not allow the use of such individual-identifying information constrain research; models that involve commercial interests raise concerns about what type of access is acceptable. Researchers, individuals representing the public interest and those developing regulatory guidelines must be involved in an ongoing dialogue to identify practical models.

Epidemiology in Germany-general development and personal experience.

Science.gov (United States)

Wichmann, Heinz-Erich

2017-08-01

Did you ever hear about epidemiology in Germany? Starting from an epidemiological desert the discipline has grown remarkably, especially during the last 10-15 years: research institutes have been established, research funding has improved, multiple curriculae in Epidemiology and Public Health are offered. This increase has been quite steep, and now the epidemiological infrastructure is much better. Several medium-sized and even big population cohorts are ongoing, and the number and quality of publications from German epidemiologists has reached a respectable level. My own career in epidemiology started in the field of environmental health. After German reunification I concentrated for many years on environmental problems in East Germany and observed the health benefits after improvement of the situation. Later, I concentrated on population-based cohorts in newborns (GINI/LISA) and adults (KORA, German National Cohort), and on biobanking. This Essay describes the development in Germany after worldwar 2, illustrated by examples of research results and build-up of epidemiological infractructures worth mentioning.

Epidemiology, Comorbidity, and Behavioral Genetics of Antisocial Personality Disorder and Psychopathy.

Science.gov (United States)

Werner, Kimberly B; Few, Lauren R; Bucholz, Kathleen K

2015-04-01

Psychopathy is theorized as a disorder of personality and affective deficits while antisocial personality disorder (ASPD) diagnosis is primarily behaviorally based. While ASPD and psychopathy are similar and are highly comorbid with each other, they are not synonymous. ASPD has been well studied in community samples with estimates of its lifetime prevalence ranging from 1-4% of the general population. 4,5 In contrast, psychopathy is almost exclusively investigated within criminal populations so that its prevalence in the general population has been inferred by psychopathic traits rather than disorder (1%). Differences in etiology and comorbidity with each other and other psychiatric disorders of these two disorders are also evident. The current article will briefly review the epidemiology, etiology, and comorbidity of ASPD and psychopathy, focusing predominately on research completed in community and clinical populations. This paper aims to highlight ASPD and psychopathy as related, but distinct disorders.

Cancer Epidemiology Data Repository (CEDR)

Science.gov (United States)

In an effort to broaden access and facilitate efficient data sharing, the Epidemiology and Genomics Research Program (EGRP) has created the Cancer Epidemiology Data Repository (CEDR), a centralized, controlled-access database, where Investigators can deposit individual-level de-identified observational cancer datasets.

Molecular Epidemiology of Heart Failure

Directory of Open Access Journals (Sweden)

J. Gustav Smith, MD, PhD

2017-12-01

Full Text Available Heart failure (HF is the end-stage of all heart disease and arguably constitutes the greatest unmet therapeutic need in cardiovascular medicine today. Classic epidemiological studies have established clinical risk factors for HF, but the cause remains poorly understood in many cases. Biochemical analyses of small case-control series and animal models have described a plethora of molecular characteristics of HF, but a single unifying pathogenic theory is lacking. Heart failure appears to result not only from cardiac overload or injury but also from a complex interplay among genetic, neurohormonal, metabolic, inflammatory, and other biochemical factors acting on the heart. Recent development of robust, high-throughput tools in molecular biology provides opportunity for deep molecular characterization of population-representative cohorts and HF cases (molecular epidemiology, including genome sequencing, profiling of myocardial gene expression and chromatin modifications, plasma composition of proteins and metabolites, and microbiomes. The integration of such detailed information holds promise for improving understanding of HF pathophysiology in humans, identification of therapeutic targets, and definition of disease subgroups beyond the current classification based on ejection fraction which may benefit from improved individual tailoring of therapy. Challenges include: 1 the need for large cohorts with deep, uniform phenotyping; 2 access to the relevant tissues, ideally with repeated sampling to capture dynamic processes; and 3 analytical issues related to integration and analysis of complex datasets. International research consortia have formed to address these challenges and combine datasets, and cohorts with up to 1 million participants are being collected. This paper describes the molecular epidemiology of HF and provides an overview of methods and tissue types and examples of published and ongoing efforts to systematically evaluate molecular

Serum chemistry reference values for the common genet (Genetta genetta): variations associated with Leishmania infantum infection.

Science.gov (United States)

Millán, Javier; Chirife, Andrea D; Altet, Laura

2015-03-01

The role of wildlife in the epidemiology of leishmaniosis in under debate, and determining whether infection with Leishmania infantum causes illness in wild carnivores is important to determine its potential role as a reservoir. To provide for the first time serum biochemistry reference values for the common genet (Genetta genetta), and to determine variations associated with L. infantum infection. Twenty-five serum biochemistry parameters were determined in 22 wild-caught genets. Blood samples were analyzed for L. infantum DNA by means of real-time polymerase chain reaction (PCR). Two female genets were positive for L. infantum DNA but did not show any external clinical sign upon physical examination. Among other variations in the biochemistry values of these genets, one presented a higher concentration of gamma-globulins and cholesterol, whereas the other genet presented increased creatinine, bilirubin, and chloride levels when compared to uninfected females. Sex-related differences in some parameters were also reported. Infection with L. infantum may sometimes be accompanied by abnormal serum biochemistry in wild carnivores. Clinical disease may occur in L. infantum-infected wild carnivores. This has implications in the epidemiology of leishmaniosis. In addition, the data provided here would also be useful as reference values for researchers or rehabilitators working with the common genet.

Ethics in epidemiological research A ética na pesquisa epidemiológica

Directory of Open Access Journals (Sweden)

Rita Barradas Barata

2008-04-01

Full Text Available This text focus, on a series of author's opinions, on the difficulties that the current system of regulation of ethics in research represents for the practice of the epidemiological research, in the Country. It introduces a few understandings concerning the present subject in the international literature, pointing out some of the most relevant themes and problems. It also examines part of the difficulties faced by Brazilian epidemiologists. The main topic developed in the article is the specificity of the science's reasoning that guides acting of the public health and epidemiology with repercussions for the practice of scientific research in this field, plenty different from the science's reasoning that preside medical practice and biomedical research. Hence the inadequacy of the ethical recommendations in force, all of them based on biomedical research, particularly at that with experimental design. It concludes with the indication that procedures adopted by the system of the ethics in research should be reviewed, adapting such procedures to the characteristics of different kinds of research.Este artigo reúne uma série de opiniões do autor sobre as dificuldades que o atual sistema de controle da ética em pesquisa representa para a prática da pesquisa epidemiológica no país. São apresentadas algumas posições referentes ao assunto presentes na literatura internacional, apontados alguns dos temas e problemas mais relevantes e discutidas algumas das dificuldades enfrentadas pelos epidemiologistas brasileiros. O argumento principal desenvolvido no artigo é a especificidade da lógica de atuação da saúde pública e da epidemiologia em seu interior com repercussões para a prática da pesquisa científica nesse campo, bastante diferente da lógica que preside a prática médica e a pesquisa biomédica. Daí a inadequação das recomendações éticas vigentes, todas elas baseadas na pesquisa biomédica, em particular, naquelas com

Ethical, legal and social issues of genetic studies with African immigrants as research subjects.

Science.gov (United States)

Gong, Gordon; Kosoko-Lasaki, Sade; Haynatzki, Gleb; Cook, Cynthia; O'Brien, Richard L; Houtz, Lynne E

2008-09-01

There is growing interest in exploring gene-environment interactions in the etiology of diseases in immigrants from sub-Saharan Africa. Our experience working with the Sudanese immigrant population in Omaha, NE, makes clear the pressing need for geneticists and federal and local funding agencies to address the ethical, legal and social implications of genetic research with such vulnerable populations. Our work raises several questions. How does one design research with African immigrant participants to assure it is ethical? Many immigrants may not understand the purposes, risks and benefits involved in research because of low literacy rates, one of the results of civil wars, or concepts of biologic science foreign to their cultures. Is it possible to obtain truly informed consent? Do African immigrants perceive genetic research using them as subjects as racist? Is genetic research on minorities "biopiracy" or "bio-colonialism?" In our experience, some Sudanese immigrants have challenged the legality and ethics of genetic studies with profit-making as an end. We have concluded that it is essential to educate African immigrant or any other non-English-speaking immigrant participants in research using lay language and graphic illustrations before obtaining consent. Cultural proficiency is important in gaining the trust of African immigrants; profit-sharing may encourage their participation in genetic research to benefit all; involvement of African immigrant community leaders in planning, delivery and evaluation using the community-based participatory research approach will facilitate healthcare promotion, health literacy education, as well as genetic research. It is crucial to address the ethical, legal and social implications of genetic studies with African immigrants as research subjects.

Application of Haddon’s matrix in qualitative research methodology: an experience in burns epidemiology

Directory of Open Access Journals (Sweden)

Deljavan R

2012-07-01

Full Text Available Reza Deljavan,1 Homayoun Sadeghi-Bazarganim,2,3 Nasrin Fouladim,4 Shahnam Arshi,5 Reza Mohammadi61Injury Epidemiology and Prevention Research Center, 2Neuroscience Research Center, Department of Statistics and Epidemiology, Tabriz University of Medical Sciences, Tabriz, Iran; 3Public Health Department, Karolinska Institute, Stockholm, Sweden; 4Ardabil University of Medical Sciences, Ardabil, Iran; 5Shahid Beheshti University of Medical Sciences, Tehran, Iran; 6Public Health Department, Karolinska Institute, Stockholm, SwedenBackground: Little has been done to investigate the application of injury specific qualitative research methods in the field of burn injuries. The aim of this study was to use an analytical tool (Haddon’s matrix through qualitative research methods to better understand people’s perceptions about burn injuries.Methods: This study applied Haddon’s matrix as a framework and an analytical tool for a qualitative research methodology in burn research. Both child and adult burn injury victims were enrolled into a qualitative study conducted using focus group discussion. Haddon’s matrix was used to develop an interview guide and also through the analysis phase.Results: The main analysis clusters were pre-event level/human (including risky behaviors, belief and cultural factors, and knowledge and education, pre-event level/object, pre-event phase/environment and event and post-event phase (including fire control, emergency scald and burn wound management, traditional remedies, medical consultation, and severity indicators. This research gave rise to results that are possibly useful both for future injury research and for designing burn injury prevention plans.Conclusion: Haddon’s matrix is applicable in a qualitative research methodology both at data collection and data analysis phases. The study using Haddon’s matrix through a qualitative research methodology yielded substantially rich information regarding burn injuries

Racial, ethnic, and gender variations in cancer risk: considerations for future epidemiologic research.

OpenAIRE

Zahm, S H; Fraumeni, J F

1995-01-01

There is no question that the risk of many cancers varies substantially by race, ethnic group, and gender. Although important clues to cancer etiology may come from investigating the differences in risk across subgroups of the population, epidemiologic research has often focused on white men. More descriptive and analytic studies are needed to identify and explain variations in risk among population subgroups. Especially important are studies to clarify the role of differential exposures, sus...

Gene Set Analyses of Genome-Wide Association Studies on 49 Quantitative Traits Measured in a Single Genetic Epidemiology Dataset

Directory of Open Access Journals (Sweden)

Jihye Kim

2013-09-01

Full Text Available Gene set analysis is a powerful tool for interpreting a genome-wide association study result and is gaining popularity these days. Comparison of the gene sets obtained for a variety of traits measured from a single genetic epidemiology dataset may give insights into the biological mechanisms underlying these traits. Based on the previously published single nucleotide polymorphism (SNP genotype data on 8,842 individuals enrolled in the Korea Association Resource project, we performed a series of systematic genome-wide association analyses for 49 quantitative traits of basic epidemiological, anthropometric, or blood chemistry parameters. Each analysis result was subjected to subsequent gene set analyses based on Gene Ontology (GO terms using gene set analysis software, GSA-SNP, identifying a set of GO terms significantly associated to each trait (pcorr < 0.05. Pairwise comparison of the traits in terms of the semantic similarity in their GO sets revealed surprising cases where phenotypically uncorrelated traits showed high similarity in terms of biological pathways. For example, the pH level was related to 7 other traits that showed low phenotypic correlations with it. A literature survey implies that these traits may be regulated partly by common pathways that involve neuronal or nerve systems.

Conducting Accessible Research: Including People With Disabilities in Public Health, Epidemiological, and Outcomes Studies.

Science.gov (United States)

Rios, Dianne; Magasi, Susan; Novak, Catherine; Harniss, Mark

2016-12-01

People with disabilities are largely absent from mainstream health research. Exclusion of people with disabilities may be explicit, attributable to poorly justified exclusion criteria, or implicit, attributable to inaccessible study documents, interventions, or research measures. Meanwhile, people with disabilities experience poorer health, greater incidence of chronic conditions, and higher health care expenditure than people without disabilities. We outline our approach to "accessible research design"-research accessible to and inclusive of people with disabilities. We describe a model that includes 3 tiers: universal design, accommodations, and modifications. Through our work on several large-scale research studies, we provide pragmatic examples of accessible research design. Making efforts to include people with disabilities in public health, epidemiological, and outcomes studies will enhance the interpretability of findings for a significant patient population.

Researcher responsibilities and genetic counseling for pure-bred dog populations.

Science.gov (United States)

Bell, Jerold S

2011-08-01

Breeders of dogs have ethical responsibilities regarding the testing and management of genetic disease. Molecular genetics researchers have their own responsibilities, highlighted in this article. Laboratories offering commercial genetic testing should have proper sample identification and quality control, official test result certificates, clear explanations of test results and reasonably priced testing fees. Providing test results to a publicly-accessible genetic health registry allows breeders and the public to search for health-tested parents to reduce the risk of producing or purchasing affected offspring. Counseling on the testing and elimination of defective genes must consider the effects of genetic selection on the population. Recommendations to breed quality carriers to normal-testing dogs and replacing them with quality normal-testing offspring will help to preserve breeding lines and breed genetic diversity. Copyright © 2011 Elsevier Ltd. All rights reserved.

Rethinking Research for Genetically Modified (GM) Food

OpenAIRE

Yin-Ling; Lin

2012-01-01

This paper suggests a rethinking of the existing research about Genetically Modified (GM) food. Since the first batch of GM food was commercialised in the UK market, GM food rapidly received and lost media attention in the UK. Disagreement on GM food policy between the US and the EU has also drawn scholarly attention to this issue. Much research has been carried out intending to understand people-s views about GM food and the shaping of these views. This paper was based o...

[The importance of genealogy applied to genetic research in Costa Rica].

Science.gov (United States)

Meléndez Obando, Mauricio O

2004-09-01

The extensive development of genealogical studies based on archival documents has provided powerful support for genetic research in Costa Rica over the past quarter century. As a result, several questions of population history have been answered, such as those involving hereditary illnesses, suggesting additional avenues and questions as well. Similarly, the preservation of massive amounts of historical documentation highlights the major advantages that the Costa Rican population offers to genetic research.

Genetics and epigenetics of eating disorders

Directory of Open Access Journals (Sweden)

Yilmaz Z

2015-03-01

Full Text Available Zeynep Yilmaz,1 J Andrew Hardaway,1 Cynthia M Bulik1–3 1Department of Psychiatry, 2Department of Nutrition, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA; 3Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden Abstract: Eating disorders (EDs are serious psychiatric conditions influenced by biological, psychological, and sociocultural factors. A better understanding of the genetics of these complex traits and the development of more sophisticated molecular biology tools have advanced our understanding of the etiology of EDs. The aim of this review is to critically evaluate the literature on the genetic research conducted on three major EDs: anorexia nervosa, bulimia nervosa, and binge eating disorder. We will first review the diagnostic criteria, clinical features, prevalence, and prognosis of anorexia nervosa, bulimia nervosa, and binge eating disorder, followed by a review of family, twin, and adoption studies. We then review the history of genetic studies of EDs covering linkage analysis, candidate-gene association studies, genome-wide association studies, and the study of rare variants in EDs. Our review also incorporates a translational perspective by covering animal models of ED-related phenotypes. Finally, we review the nascent field of epigenetics of EDs and a look forward to future directions for ED genetic research. Keywords: anorexia nervosa, binge eating disorder, bulimia nervosa, animal models, genome-wide association studies, high-throughput sequencing

Atopic dermatitis in diverse racial and ethnic groups-Variations in epidemiology, genetics, clinical presentation and treatment.

Science.gov (United States)

Kaufman, Bridget P; Guttman-Yassky, Emma; Alexis, Andrew F

2018-04-01

Atopic dermatitis (AD) is a chronic inflammatory skin condition that affects diverse ethnic groups with varying prevalence. Despite a predominance of studies in individuals of European ancestry, AD has been found to occur more frequently in Asian and Black individuals than Whites. Therefore, an understanding of the unique clinical features of AD in diverse ethnic groups, as well as the differences in genetic polymorphisms that influence susceptibility to AD and response to current therapies, is paramount for management of an increasingly diverse patient population. In this article, we review key nuances in the epidemiology, pathophysiology, clinical presentation and treatment of AD in non-White ethnic groups, which are largely underappreciated in the literature. We highlight the need for studies evaluating the tissue molecular and cellular phenotypes of AD in non-White patients, as well as greater inclusion of minority groups in clinical trials, to develop targeted treatments for a multi-ethnic population. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Molecular epidemiology of Epizootic haematopoietic necrosis virus (EHNV).

Science.gov (United States)

Hick, Paul M; Subramaniam, Kuttichantran; Thompson, Patrick M; Waltzek, Thomas B; Becker, Joy A; Whittington, Richard J

2017-11-01

Low genetic diversity of Epizootic haematopoietic necrosis virus (EHNV) was determined for the complete genome of 16 isolates spanning the natural range of hosts, geography and time since the first outbreaks of disease. Genomes ranged from 125,591-127,487 nucleotides with 97.47% pairwise identity and 106-109 genes. All isolates shared 101 core genes with 121 potential genes predicted within the pan-genome of this collection. There was high conservation within 90,181 nucleotides of the core genes with isolates separated by average genetic distance of 3.43 × 10 -4 substitutions per site. Evolutionary analysis of the core genome strongly supported historical epidemiological evidence of iatrogenic spread of EHNV to naïve hosts and establishment of endemic status in discrete ecological niches. There was no evidence of structural genome reorganization, however, the complement of non-core genes and variation in repeat elements enabled fine scale molecular epidemiological investigation of this unpredictable pathogen of fish. Copyright © 2017 Elsevier Inc. All rights reserved.

Applications of genetic programming in cancer research.

Science.gov (United States)

Worzel, William P; Yu, Jianjun; Almal, Arpit A; Chinnaiyan, Arul M

2009-02-01

The theory of Darwinian evolution is the fundamental keystones of modern biology. Late in the last century, computer scientists began adapting its principles, in particular natural selection, to complex computational challenges, leading to the emergence of evolutionary algorithms. The conceptual model of selective pressure and recombination in evolutionary algorithms allow scientists to efficiently search high dimensional space for solutions to complex problems. In the last decade, genetic programming has been developed and extensively applied for analysis of molecular data to classify cancer subtypes and characterize the mechanisms of cancer pathogenesis and development. This article reviews current successes using genetic programming and discusses its potential impact in cancer research and treatment in the near future.

Risk factors for Alzheimer's disease : a genetic-epidemiologic study

NARCIS (Netherlands)

C.M. van Duijn (Cornelia)

1992-01-01

textabstractThe work presented in this thesis has been motivated by the Jack of knowledge of risk factors for Alzheimer's disease. It has been long recognised that genetic factors are implicated, in particular in early-onset Alzheimer's disease.4 But to what extent are genetic factors involved?

Mitochondrial DNA and Cancer Epidemiology Workshop

Science.gov (United States)

A workshop to review the state-of-the science in the mitochondrial DNA field and its use in cancer epidemiology, and to develop a concept for a research initiative on mitochondrial DNA and cancer epidemiology.

Evaluation of Genetic Pattern of Non-Tuberculosis Mycobacterium Using VNTR Method

Directory of Open Access Journals (Sweden)

Noorozi J

2011-06-01

Full Text Available Background and Objectives: Epidemiological studies of Non-tuberculosis Mycobacterium is important because of the drug resistance pattern and worldwide dissemination of these organisms. One of genetic fingerprinting methods for epidemiological studies is VNTR (Variable Number Tandem Repeat. In this study genetic pattern of atypical Mycobacterium was evaluated by VNTR method for epidemiologic studies. Methods: 48 pulmonary and non pulmonary specimens separated from patients with the symptoms of pulmonary tuberculosis (PTB and identified as Non-tuberculosis Mycobacteriumby phenotypic and PCR-RFLP methods were selected for this study. Clinical samples and their standard strains were evaluated according to VNTR pattern using the 7 genetic loci including ETR-B. ETR-F. ETR-C. MPTR-A. ETR-A. ETR-E. ETR-D.Results: The results of VNTR method showed that none of the 7 loci had any polymorphism in the standard strains of atypical mycobacterium. Some of these variable number tandem repeat in 42 clinical samples of non-tuberculosis Mycobacterium were polymorphic while the PCR product (for any loci was not found in the remaining 6 specimens. Conclusion: Although the used genetic loci of this study were suitable for epidemiological studies of Mycobacterium tuberculosis, these loci were not able to determine the diversity of genetics of non-tuberculosis Mycobacterium Therefore, it seems necessary that other loci be studied using VNTR method.

Global Foot-and-Mouth Disease Research Update and Gap Analysis: 2 - Epidemiology, Wildlife and Economics.

Science.gov (United States)

Knight-Jones, T J D; Robinson, L; Charleston, B; Rodriguez, L L; Gay, C G; Sumption, K J; Vosloo, W

2016-06-01

We assessed knowledge gaps in foot-and-mouth disease (FMD) research, and in this study, we consider (i) epidemiology, (ii) wildlife and (iii) economics. The study took the form of a literature review (2011-2015) combined with research updates collected in 2014 from 33 institutes from across the world. Findings were used to identify priority areas for future FMD research. During 2011-2015, modelling studies were dominant in the broad field of epidemiology; however, continued efforts are required to develop robust models for use during outbreaks in FMD-free countries, linking epidemiologic and economics models. More guidance is needed for both the evaluation and the setting of targets for vaccine coverage, population immunity and vaccine field efficacy. Similarly, methods for seroprevalence studies need to be improved to obtain more meaningful outputs that allow comparison across studies. To inform control programmes in endemic countries, field trials assessing the effectiveness of vaccination in extensive smallholder systems should be performed to determine whether FMD can be controlled with quality vaccines in settings where implementing effective biosecurity is challenging. Studies need to go beyond measuring only vaccine effects and should extend our knowledge of the impact of FMD and increase our understanding of how to maximize farmer participation in disease control. Where wildlife reservoirs of virus exist, particularly African Buffalo, we need to better understand when and under what circumstances transmission to domestic animals occurs in order to manage this risk appropriately, considering the impact of control measures on livelihoods and wildlife. For settings where FMD eradication is unfeasible, further ground testing of commodity-based trade is recommended. A thorough review of global FMD control programmes, covering successes and failures, would be extremely valuable and could be used to guide other control programmes. © 2016 Blackwell Verlag GmbH.

Occupational reproductive epidemiology: Pt. 1

International Nuclear Information System (INIS)

Roman, Eve; Doyle, Pat

1993-01-01

The authors review the current state of knowledge about possible adverse effects of hazardous paternal workplace exposures on human reproduction is scant. The methodology for studying possible association between occupational exposures and adverse reproductive events is not well developed. More detailed laboratory and epidemiological research is clearly required, and better collaboration between these two disciplines is needed. Associations suggested in the course of epidemiological research need to be tested in the laboratory, and vice versa. (author)

Epidemiology and Radiation Protection

International Nuclear Information System (INIS)

1987-01-01

Epidemiology aims at providing direct evidence of the long term health effects in humans due to potentially dangerous exposures to various nuisance agents, including ionising radiation. Inappropriate interpretation and use of the results of epidemiological studies may result in inaccurate assessments of the risks associated with radiation exposure. This report presents the proceedings of a Workshop organised by the NEA to create an opportunity for epidemiologists and radiation protection specialists to exchange their experiences and views on the problems of methodology in epidemiological research and on the application of its results to the assessment of radiation risks

Parental Virtue and Prenatal Genetic Alteration Research.

Science.gov (United States)

Tonkens, Ryan

2015-12-01

Although the philosophical literature on the ethics of human prenatal genetic alteration (PGA) purports to inform us about how to act, it rarely explicitly recognizes the perspective of those who will be making the PGA decision in practice. Here I approach the ethics of PGA from a distinctly virtue-based perspective, taking seriously what it means to be a good parent making this decision for one's child. From this perspective, I generate a sound verdict on the moral standing of human PGA (research): given the current state of the art, good parents have compelling reason not to consent to PGA (research) for their child, especially as part of the first wave(s) of PGA research participants and especially for non-medically oriented purposes. This is because doing otherwise is inconsistent with a plausible and defensible understanding of virtuous parenting and parental virtues, founded on a genuine concern for promoting the overall flourishing of the eventual child. In essence, given the current and foreseeable state of the art, parents who allow prenatal genetic alteration of their children are less-than-virtuous parents to those children, even in cases where they have a right to do so and even if PGA turns out to be beneficial to the eventual child.

Looking forward to 20/20: a focus on the epidemiology of eye diseases.

Science.gov (United States)

West, S K

2000-01-01

The encouraging scenario of international efforts to eliminate preventable and avoidable blindness is the legacy of public health ophthalmology in the 20th century. With active programs currently in place or beginning for the major cause of blindness in childhood and two of the leading infectious causes of blindness, it is natural that research in eye disease will shift even more heavily toward the leading causes of blindness in the older ages. The age-related eye diseases will rapidly become the most common causes of blindness and visual loss and, with the exception of cataract, are the more difficult to identify, diagnose, and treat. The human misery and social cost of blindness, especially in the countries that can ill afford it, are profound. To combat this problem, epidemiologic research in ophthalmology should look toward the following major areas: 1. the identification and testing of better screening modalities to determine early changes possibly amenable to preventive strategies. This includes detection of vitamin A deficiency as well. 2. the creation of uniform definitions for diseases, particularly glaucoma and early AMD, which have relevance for epidemiologic research into risk factors. 3. increased multidisciplinary research, working with investigators skilled in molecular genetics, biologic markers for age-related diseases, and those interested in new imaging and vision-testing techniques. 4. ongoing work in clinical trials of new approaches to prevent or delay the onset of vision loss from eye disease, including future vaccines for chlamydia and onchocerciasis. The major public health issue of blindness prevention will not disappear in the next century but only shift emphasis to different causes if the current programs achieve the success that is hoped. Future epidemiologic research will continue to require a concerted, sustained, and multidisciplinary effort in order to contribute to the vision research agenda in the next century.

Research and Applications of Shop Scheduling Based on Genetic Algorithms

Directory of Open Access Journals (Sweden)

Hang ZHAO

Full Text Available ABSTRACT Shop Scheduling is an important factor affecting the efficiency of production, efficient scheduling method and a research and application for optimization technology play an important role for manufacturing enterprises to improve production efficiency, reduce production costs and many other aspects. Existing studies have shown that improved genetic algorithm has solved the limitations that existed in the genetic algorithm, the objective function is able to meet customers' needs for shop scheduling, and the future research should focus on the combination of genetic algorithm with other optimized algorithms. In this paper, in order to overcome the shortcomings of early convergence of genetic algorithm and resolve local minimization problem in search process,aiming at mixed flow shop scheduling problem, an improved cyclic search genetic algorithm is put forward, and chromosome coding method and corresponding operation are given.The operation has the nature of inheriting the optimal individual ofthe previous generation and is able to avoid the emergence of local minimum, and cyclic and crossover operation and mutation operation can enhance the diversity of the population and then quickly get the optimal individual, and the effectiveness of the algorithm is validated. Experimental results show that the improved algorithm can well avoid the emergency of local minimum and is rapid in convergence.

Epidemiology of Stuttering: 21st Century Advances

Science.gov (United States)

Yairi, Ehud; Ambrose, Nicoline

2012-01-01

Epidemiological advances in stuttering during the current century are reviewed within the perspectives of past knowledge. The review is organized in six sections: (a) onset (b) incidence (c) prevalence (d) developmental paths, (e) genetics and (f) subtypes. It is concluded that: (1) most of the risk for stuttering onset is over by age 5, earlier than has been previously thought, with a male-to-female ratio near onset smaller than what has been thought, (2) there are indications that the lifespan incidence in the general population may be higher than the 5% commonly cited in past work, (3) the average prevalence over the lifespan may be lower than the commonly held 1%, (4) the effects of race, ethnicity, culture, bilingualism, and socioeconomic status on the incidence/prevalence of stuttering remain uncertain, (5) longitudinal, as well as incidence and prevalence studies support high levels of natural recovery from stuttering, (6) advances in biological genetic research have brought within reach the identification of candidate genes that contribute to stuttering in the population at large, (7) subtype-differentiation has attracted growing interest, with most of the accumulated evidence supporting a distinction between persistent and recovered subtypes. PMID:23773662

Epidemiology and genetics of ventricular fibrillation during acute myocardial infarction

DEFF Research Database (Denmark)

Glinge, Charlotte; Sattler, Stefan; Jabbari, Reza

2016-01-01

of a family member is a risk factor for SCD and VF during acute myocardial infarction (MI), independent of traditional risk factors including family history of MI, suggesting a genetic component in the susceptibility to VF. To prevent SCD and VF due to MI, we need a better understanding of the genetic...... and molecular mechanisms causing VF in this apparently healthy population. Even though new insights and technologies have become available, the genetic predisposition to VF during MI remains poorly understood. Findings from a variety of different genetic studies have failed to reach reproducibility, although...... several genetic variants, both common and rare variants, have been associated to either VF or SCD. For this review, we searched PubMed for potentially relevant articles, using the following MeSH-terms: "sudden cardiac death", "ventricular fibrillation", "out-of-hospital cardiac arrest", "myocardial...

The globalization of epidemiology: introductory remarks.

Science.gov (United States)

Pearce, Neil

2004-10-01

We are all living in the era of globalization, and like it or not, it is going to change the way we practice epidemiology, the kinds of questions we ask, and the methods we use to answer them. Increasingly, pubic health problems are being shifted from rich countries to poor countries and from rich to poor populations within Western countries. There is increasing interest and concern about the situation in non-Western populations on the part of Western epidemiologists, with regards to collaborative research, skills transfer, and 'volunteerism' to enable the 'benefits' of Western approaches to epidemiology to be shared by the non-Western world. However, most existing collaborations benefit Western epidemiologists rather than the countries in which the research is conducted. Even when research in non-Western populations is conducted as a genuine collaboration, it can too often 'export failure' from the West. On the other hand, non-Western epidemiologists are increasingly developing new and innovative approaches to health research that are more appropriate to the global public health issues they are addressing. These include recognition of the importance of context and the importance of diversity and local knowledge, and a problem-based approach to addressing the major public health problems using appropriate technology. These debates formed the background for a plenary session on 'International Epidemiology and International Health' at the recent International Epidemiological Association (IEA) meeting in Montreal, and the papers from this session are presented here. The development of a truly global epidemiology can not only better address the public health problems in non-Western populations, but can shed light on the current limitations of epidemiology in addressing the major public health problems in the West.

Disclosure of individual genetic data to research participants: the debate reconsidered

NARCIS (Netherlands)

Bredenoord, A.L.; Kroes, H.Y.; Cuppen, E.; Parker, M.; van Delden, J.J.M.

2010-01-01

Despite extensive debate, there is no consensus on whether individual genetic data should be disclosed to research participants. The emergence of whole-genome sequencing methods is increasingly generating unequalled amounts of genetic data, making the need for a clear feedback policy even more

Investigación cualitativa y cuantitativa en epidemiología social: ¿es simplemente una cuestión de complementariedad? Qualitative and quantitative research in social epidemiology: is complementarity the only issue?

Directory of Open Access Journals (Sweden)

M.B. Gómez

2003-01-01

Full Text Available A pesar de que en los últimos años hemos asistido a una creciente aceptación de la investigación cualitativa en el campo de la epidemiología social, el papel y el ámbito de su utilización continúa siendo un campo de debate. En este trabajo presentamos algunos de los temas que han sido el centro del debate entre los investigadores a favor y en contra de la metodología cualitativa para la investigación en epidemiología social y disciplinas relacionadas de la salud pública. Entre los puntos de controversia hay problemas epistemológicos, como las limitaciones de la investigación mediante encuestas para abordar mecanismos sociales, la ausencia de un marco conceptual en los epidemiólogos para generar hipótesis relevantes para poblaciones específicas, y problemas ontológicos como el idealismo inherente a la investigación cualitativa proveniente de la antropología. Se revisan a continuación las etnografías urbanas de Elliot Liebow y una década de investigación en población afroamericana y barrios desfavorecidos en los Estados Unidos para exponer otro papel de la investigación cualitativa en epidemiología social. Así, sostenemos que la investigación cualitativa se ha utilizado en debates científicos en los que se confrontan investigadores igualitaristas con instituciones u otros investigadores con intereses económicos e ideologías opuestas. A menudo la investigación cualitativa es una potente herramienta para apoyar medidas y marcos teóricos alternativos que puedan ser incluidos en estudios poblacionales cuantitativos. Creemos que este uso de la investigación cualitativa se limita al mundo académico sin que necesariamente implique que la comunidad se pueda beneficiar de ella como sucede en el caso de la investigación para la acción.Although in recent years there has been a growing acceptance of qualitative research in social epidemiology, the role and scope of its use remain a contested terrain. We sketch some of the

Translating genetic research into preventive intervention: The baseline target moderated mediator design

Directory of Open Access Journals (Sweden)

George W. Howe

2016-01-01

Full Text Available In this paper we present and discuss a novel research approach, the baseline target moderated mediation (BTMM design, that holds substantial promise for advancing our understanding of how genetic research can inform prevention research. We first discuss how genetically informed research on developmental psychopathology can be used to identify potential intervention targets. We then describe the BTMM design, which employs moderated mediation within a longitudinal study to test whether baseline levels of intervention targets moderate the impact of the intervention on change in that target, and whether change in those targets mediates causal impact of preventive or treatment interventions on distal health outcomes. We next discuss how genetically informed BTMM designs can be applied to both microtrials and full-scale prevention trials. We end with a discussion of some of the advantages and limitations of this approach.

Colorectal Cancer in Iran: Molecular Epidemiology and Screening Strategies

Directory of Open Access Journals (Sweden)

Roya Dolatkhah

2015-01-01

Full Text Available Purpose. The increasing incidence of colorectal cancer (CRC in the past three decades in Iran has made it a major public health burden. This study aimed to report its epidemiologic features, molecular genetic aspects, survival, heredity, and screening pattern in Iran. Methods. A comprehensive literature review was conducted to identify the relevant published articles. We used medical subject headings, including colorectal cancer, molecular genetics, KRAS and BRAF mutations, screening, survival, epidemiologic study, and Iran. Results. Age standardized incidence rate of Iranian CRCs was 11.6 and 10.5 for men and women, respectively. Overall five-year survival rate was 41%, and the proportion of CRC among the younger age group was higher than that of western countries. Depending on ethnicity, geographical region, dietary, and genetic predisposition, mutation genes were considerably diverse and distinct among CRCs across Iran. The high occurrence of CRC in records of relatives of CRC patients showed that family history of CRC was more common among young CRCs. Conclusion. Appropriate screening strategies for CRC which is amenable to early detection through screening, especially in relatives of CRCs, should be considered as the first step in CRC screening programs.

Colorectal Cancer in Iran: Molecular Epidemiology and Screening Strategies

International Nuclear Information System (INIS)

Dolatkhah, R.; Somi, M. H.; Dolatkhah, R.; Kermani, I. A.; Dastgiri, S.

2015-01-01

The increasing incidence of colorectal cancer (CRC) in the past three decades in Iran has made it a major public health burden. This study aimed to report its epidemiologic features, molecular genetic aspects, survival, heredity, and screening pattern in Iran. Methods. A comprehensive literature review was conducted to identify the relevant published articles. We used medical subject headings, including colorectal cancer, molecular genetics, KRAS and BRAF mutations, screening, survival, epidemiologic study, and Iran. Results. Age standardized incidence rate of Iranian CRCs was 11.6 and 10.5 for men and women, respectively. Overall five-year survival rate was 41%, and the proportion of CRC among the younger age group was higher than that of western countries. Depending on ethnicity, geographical region, dietary, and genetic predisposition, mutation genes were considerably diverse and distinct among CRCs across Iran. The high occurrence of CRC in records of relatives of CRC patients showed that family history of CRC was more common among young CRCs. Conclusion. Appropriate screening strategies for CRC which is amenable to early detection through screening, especially in relatives of CRCs, should be considered as the first step in CRC screening programs.

Division of Biological and Medical Research research summary 1984-1985

Energy Technology Data Exchange (ETDEWEB)

Barr, S.H. (ed.)

1985-08-01

The Division of Biological and Medical Research at Argonne National Laboratory conducts multidisciplinary research aimed at defining the biological and medical hazards to man from energy technologies and new energy options. These technically oriented studies have a strong base in fundamental research in a variety of scientific disciplines, including molecular and cellular biology, biophysics, genetics, radiobiology, pharmacology, biochemistry, chemistry, environmental toxicology, and epidemiology. This research summary is organized into six parts. The first five parts reflect the Divisional structure and contain the scientific program chapters, which summarize the activities of the individual groups during the calendar year 1984 and the first half of 1985. To provide better continuity and perspective, previous work is sometimes briefly described. Although the summaries are short, efforts have been made to indicate the range of research activities for each group.

Division of Biological and Medical Research research summary 1984-1985

International Nuclear Information System (INIS)

Barr, S.H.

1985-08-01

The Division of Biological and Medical Research at Argonne National Laboratory conducts multidisciplinary research aimed at defining the biological and medical hazards to man from energy technologies and new energy options. These technically oriented studies have a strong base in fundamental research in a variety of scientific disciplines, including molecular and cellular biology, biophysics, genetics, radiobiology, pharmacology, biochemistry, chemistry, environmental toxicology, and epidemiology. This research summary is organized into six parts. The first five parts reflect the Divisional structure and contain the scientific program chapters, which summarize the activities of the individual groups during the calendar year 1984 and the first half of 1985. To provide better continuity and perspective, previous work is sometimes briefly described. Although the summaries are short, efforts have been made to indicate the range of research activities for each group

Triglyceride-Rich Lipoproteins and Atherosclerotic Cardiovascular Disease: New Insights From Epidemiology, Genetics, and Biology.

Science.gov (United States)

Nordestgaard, Børge G

2016-02-19

Scientific interest in triglyceride-rich lipoproteins has fluctuated over the past many years, ranging from beliefs that these lipoproteins cause atherosclerotic cardiovascular disease (ASCVD) to being innocent bystanders. Correspondingly, clinical recommendations have fluctuated from a need to reduce levels to no advice on treatment. New insight in epidemiology now suggests that these lipoproteins, marked by high triglycerides, are strong and independent predictors of ASCVD and all-cause mortality, and that their cholesterol content or remnant cholesterol likewise are strong predictors of ASCVD. Of all adults, 27% have triglycerides >2 mmol/L (176 mg/dL), and 21% have remnant cholesterol >1 mmol/L (39 mg/dL). For individuals in the general population with nonfasting triglycerides of 6.6 mmol/L (580 mg/dL) compared with individuals with levels of 0.8 mmol/L (70 mg/dL), the risks were 5.1-fold for myocardial infarction, 3.2-fold for ischemic heart disease, 3.2-fold for ischemic stroke, and 2.2-fold for all-cause mortality. Also, genetic studies using the Mendelian randomization design, an approach that minimizes problems with confounding and reverse causation, now demonstrate that triglyceride-rich lipoproteins are causally associated with ASCVD and all-cause mortality. Finally, genetic evidence also demonstrates that high concentrations of triglyceride-rich lipoproteins are causally associated with low-grade inflammation. This suggests that an important part of inflammation in atherosclerosis and ASCVD is because of triglyceride-rich lipoprotein degradation and uptake into macrophage foam cells in the arterial intima. Taken together, new insights now strongly suggest that elevated triglyceride-rich lipoproteins represent causal risk factors for low-grade inflammation, ASCVD, and all-cause mortality. © 2016 American Heart Association, Inc.

Building a Bridge Between Genetics and Outcomes Research: Application in Autism (The AutGO Study).

Science.gov (United States)

Talebizadeh, Zohreh; Shah, Ayten

2018-03-05

Concerns over the need to improve translational aspects of genetics research studies and engaging community members in the research process have been noted in the literature and raised by patient advocates. In addition to the work done by patient advocacy groups, organizations such as the Patient-Centered Outcomes Research Institute advocate for a change in the culture of research from being researcher-driven to becoming more patient-driven. Our project, Autism Genetics and Outcomes (AutGO), consists of two phases. The goal for phase I was to initiate a general discussion around the main topic (i.e., linking genetics and outcomes research). We used the Patient-Centered Outcomes Research Institute engagement approach to: (aim 1) develop a partnership with a wide range of stakeholders to assess their perspective on developing projects that use both genetics and outcomes research data/principles; (aim 2) identify barriers, facilitators, and needs to promote engagement in patient-centered genetics research; and (aim 3) distill and describe actions that may facilitate utilization of patient/parent perspectives in designing genetics research studies. In phase I, we formed a community advisory board composed of 33 participants, including outcomes and genetics researchers, clinicians, healthcare providers, patients/family members, and community/industry representatives, and convened six sessions over the 12-month period. We structured the sessions as a combination of online PowerPoint presentations, surveys, and in-person group discussions. During the sessions, we discussed topics pertaining to linking genetics and outcomes research and reviewed relevant materials, including patient stories, research projects, and existing resources. Two sets of surveys, project evaluations (k = 2) and session evaluations (k = 6), were distributed among participants. Feedback was analyzed using content analysis strategies to identify the themes and subthemes. Herein, we describe: the

Current issues in ALS epidemiology: Variation of ALS occurrence between populations and physical activity as a risk factor.

Science.gov (United States)

Luna, J; Logroscino, G; Couratier, P; Marin, B

2017-05-01

Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease with a fatal outcome. This review aims to report key epidemiological features of ALS in relation to the hypothesis of variation between populations, to summarize environmental hypothesis and to highlight current issues that deserve much considerations. Epidemiological ALS studies have shown a variation of incidence, mortality and prevalence between geographical areas and different populations. These data could support the notion that genetic factors, especially populations' ancestries, along with environmental and lifestyle factors, play a significant role in the occurrence of the disease. To date, there is no strong evidence to confirm an association between a particular environmental factor and ALS. Physical activity (PA) has been extensively evaluated. Recent studies support with the best evidence level that PA in general population is not a risk factor for ALS. However, further research is needed to clarify the association of PA in some occupations and some athletic activities. Epidemiological research based on multicenter international collaboration is essential to provide new data on ALS especially in some regions of the world that are to date poorly represented in the ALS literature. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Bridging the gap between research into biological and psychosocial models of psychosis.

Science.gov (United States)

Murray, Robin M; Sideli, Lucia; LA Cascia, Caterina; LA Barbera, Daniele

2015-06-25

Paul Bebbington's recent Special Article provides an excellent synthesis of recent advances in psychosocial research on psychosis. However, we doubt that a model based solely on social epidemiology and cognitive theory can totally describe psychosis, and to be fair, Bebbington does not suggest that it does. A complete model must also incorporate what we have learned from non-social epidemiology, neuroscience, and genetics. Evidence indicates that both the social risk factors that interest Bebbington and biological risk factors, such as abuse of stimulants and cannabis, can provoke psychotic symptoms by dysregulating striatal dopamine. The role of neurodevelopmental deviance also needs to be considered in the etiology of schizophrenia-like psychosis. Moreover, the striking advances in our understanding of the genetic architecture of psychosis open an exciting door into studies examining gene-environment correlation and gene-environment interaction. In short, Bebbington demonstrates the value of cognitive and social researchers talking to each other, but the occasional chat with the more biologically inclined could produce a more comprehensive model.

Genetics Research Discovered in a Bestseller | Poster

Science.gov (United States)

By Nancy Parrish, Staff Writer One morning in early January, Amar Klar sat down at his computer and found an e-mail with a curious message from a colleague. While reading a bestselling novel, The Marriage Plot by Jeffrey Eugenides, his colleague, a professor at Princeton University, found a description of research on yeast genetics that was surprisingly similar to Klar’s early

Translating Genetic Research into Preventive Intervention: The Baseline Target Moderated Mediator Design.

Science.gov (United States)

Howe, George W; Beach, Steven R H; Brody, Gene H; Wyman, Peter A

2015-01-01

In this paper we present and discuss a novel research approach, the baseline target moderated mediation (BTMM) design, that holds substantial promise for advancing our understanding of how genetic research can inform prevention research. We first discuss how genetically informed research on developmental psychopathology can be used to identify potential intervention targets. We then describe the BTMM design, which employs moderated mediation within a longitudinal study to test whether baseline levels of intervention targets moderate the impact of the intervention on change in that target, and whether change in those targets mediates causal impact of preventive or treatment interventions on distal health outcomes. We next discuss how genetically informed BTMM designs can be applied to both microtrials and full-scale prevention trials. We use simulated data to illustrate a BTMM, and end with a discussion of some of the advantages and limitations of this approach.

Population health and status of epidemiology: WHO European Region I.

Science.gov (United States)

Rahu, Mati; Vlassov, Vasiliy V; Pega, Frank; Andreeva, Tatiana; Ay, Pinar; Baburin, Aleksei; Bencko, Vladimír; Csépe, Péter; Gebska-Kuczerowska, Anita; Ondrusová, Martina; Ribak, Joseph

2013-06-01

This article of the International Epidemiological Association commissioned paper series stocktakes the population health and status of epidemiology in 21 of the 53 countries of the WHO European Region. By United Nations geographical classification, these countries belong to Eastern Europe, Western Asia and South-Central Asia. Published data were used to describe population health indicators and risk factors. Epidemiological training and research was assessed based on author knowledge, information searches and E-mail survey of experts. Bibliometric analyses determined epidemiological publication outputs. Between-country differences in life expectancy, amount and profile of disease burden and prevalence of risk factors are marked. Epidemiological training is affected by ongoing structural reforms of educational systems. Training is advanced in Israel and several Eastern European countries. Epidemiological research is mainly university-based in most countries, but predominantly conducted by governmental research institutes in several countries of the former Soviet Union. Funding is generally external and limited, partially due to competition from and prioritization of biomedical research. Multiple relevant professional societies exist, especially in Poland, the Czech Republic and Hungary. Few of the region's 39 epidemiological academic journals have international currency. The number of epidemiological publications per population is highest for Israel and lowest for South-Central Asian countries. Epidemiological capacity will continue to be heterogeneous across the region and depend more on countries' individual historical, social, political and economic conditions and contexts than their epidemiologists' successive efforts. National and international research funding, and within- and between-country collaborations should be enhanced, especially for South-Central Asian countries.

Building capacity for human genetics and genomics research in Trinidad and Tobago

Directory of Open Access Journals (Sweden)

Allana Roach

Full Text Available Advances in human genetics and genomic sciences and the corresponding explosion of biomedical technologies have deepened current understanding of human health and revolutionized medicine. In developed nations, this has led to marked improvements in disease risk stratification and diagnosis. These advances have also led to targeted intervention strategies aimed at promoting disease prevention, prolonging disease onset, and mitigating symptoms, as in the well-known case of breast cancer and the BRCA1 gene. In contrast, in the developing nation of Trinidad and Tobago, this scientific revolution has not translated into the development and application of effective genomics-based interventions for improving public health. While the reasons for this are multifactorial, the underlying basis may be rooted in the lack of pertinence of internationally driven genomics research to the local public health needs in the country, as well as a lack of relevance of internationally conducted genetics research to the genetic and environmental contexts of the population. Indeed, if Trinidad and Tobago is able to harness substantial public health benefit from genetics/genomics research, then there is a dire need, in the near future, to build local capacity for the conduct and translation of such research. Specifically, it is essential to establish a national human genetics/genomics research agenda in order to build sustainable human capacity through education and knowledge transfer and to generate public policies that will provide the basis for the creation of a mutually beneficial framework (including partnerships with more developed nations that is informed by public health needs and contextual realities of the nation.

Clonorchis sinensis and Clonorchiasis: The Relevance of Exploring Genetic Variation.

Science.gov (United States)

Wang, Daxi; Young, Neil D; Korhonen, Pasi K; Gasser, Robin B

2018-01-01

Parasitic trematodes (flukes) cause substantial mortality and morbidity in humans. The Chinese liver fluke, Clonorchis sinensis, is one of the most destructive parasitic worms in humans in China, Vietnam, Korea and the Russian Far East. Although C. sinensis infection can be controlled relatively well using anthelmintics, the worm is carcinogenic, inducing cholangiocarcinoma and causing major suffering in ~15 million people in Asia. This chapter provides an account of C. sinensis and clonorchiasis research-covering aspects of biology, epidemiology, pathogenesis and immunity, diagnosis, treatment and control, genetics and genomics. It also describes progress in the area of molecular biology (genetics, genomics, transcriptomics and proteomics) and highlights challenges associated with comparative genomics and population genetics. It then reviews recent advances in the sequencing and characterisation of the mitochondrial and nuclear genomes for a Korean isolate of C. sinensis and summarises salient comparative genomic work and the implications thereof. The chapter concludes by considering how advances in genomic and informatics will enable research on the genetics of C. sinensis and related parasites, as well as the discovery of new fluke-specific intervention targets. © 2018 Elsevier Ltd All rights reserved.

Research methodology and epidemiology of relevance in recurrent pregnancy loss

DEFF Research Database (Denmark)

Christiansen, Ole B; Nielsen, Henriette Svarre; Kolte, Astrid

2006-01-01

With respect to recurrent pregnancy loss (RPL), unfortunately there is very little consensus about which investigations are useful for identifying causes and evaluating the prognosis, and also about which treatments are effective. In this review, arguments are given for the claim that this lack...... background for most of the RPL cases and the importance of matching/adjusting for a series of prognostic variables when groups are mutually compared). Furthermore, many studies in RPL contain methodological flaws that are sometimes severe. A series of important epidemiological features of RPL is highlighted...... in the review and the most important methodological pitfalls, many of them specific for RPL research, are discussed. Advice is given about to how to avoid the pitfalls in order that the validity of the studies can improve for the benefit of the patients....

Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

Science.gov (United States)

Harper, J C; Aittomäki, K; Borry, P; Cornel, M C; de Wert, G; Dondorp, W; Geraedts, J; Gianaroli, L; Ketterson, K; Liebaers, I; Lundin, K; Mertes, H; Morris, M; Pennings, G; Sermon, K; Spits, C; Soini, S; van Montfoort, A P A; Veiga, A; Vermeesch, J R; Viville, S; Macek, M

2018-01-01

Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.

Review Genetic research, behavioural science, and child and ...

African Journals Online (AJOL)

We describe a number of areas of recent research that are particularly relevant to child and adolescent mental health in South Africa (antisocial behaviour, disorganised attachment and depression) that are beginning to illuminate the interactions between the behavioural and genetic domains. Discussion: We argue that we ...

Descriptive and analytic epidemiology. Bridges to cancer control

International Nuclear Information System (INIS)

Mettlin, C.

1988-01-01

Epidemiology serves as a bridge between basic science and cancer control. The two major orientations of epidemiology are descriptive and analytic. The former is useful in assessing the scope and dimensions of the cancer problem and the latter is used to assess environmental and lifestyle sources of cancer risk. A recent development in descriptive epidemiology is the use of functional measures of disease such as lost life expectancy. In analytical epidemiology, there is new or renewed interest in several lifestyle factors including diet and exercise as well as environmental factors such as involuntary tobacco exposure and radon in dwellings. Review of the evidence should consider the strengths and weaknesses of different research procedures. Each method is inconclusive by itself but, the different research designs of epidemiology collectively may represent a hierarchy of proof. Although the roles of many factors remain to be defined, the aggregate epidemiologic data continue to demonstrate the special importance of personal behavior and lifestyle in affecting cancer risk

Epidemiological studies in incidence, prevalence, mortality, and comorbidity of the rheumatic diseases

Science.gov (United States)

Gabriel, Sherine E; Michaud, Kaleb

2009-01-01

Epidemiology is the study of the distribution and determinants of disease in human populations. Over the past decade there has been considerable progress in our understanding of the fundamental descriptive epidemiology (levels of disease frequency: incidence and prevalence, comorbidity, mortality, trends over time, geographic distributions, and clinical characteristics) of the rheumatic diseases. This progress is reviewed for the following major rheumatic diseases: rheumatoid arthritis (RA), juvenile rheumatoid arthritis, psoriatic arthritis, osteoarthritis, systemic lupus erythematosus, giant cell arteritis, polymyalgia rheumatica, gout, Sjögren's syndrome, and ankylosing spondylitis. These findings demonstrate the dynamic nature of the incidence and prevalence of these conditions – a reflection of the impact of genetic and environmental factors. The past decade has also brought new insights regarding the comorbidity associated with rheumatic diseases. Strong evidence now shows that persons with RA are at a high risk for developing several comorbid disorders, that these conditions may have atypical features and thus may be difficult to diagnose, and that persons with RA experience poorer outcomes after comorbidity compared with the general population. Taken together, these findings underscore the complexity of the rheumatic diseases and highlight the key role of epidemiological research in understanding these intriguing conditions. PMID:19519924

The landscape genetics of infectious disease emergence and spread.

Science.gov (United States)

Biek, Roman; Real, Leslie A

2010-09-01

The spread of parasites is inherently a spatial process often embedded in physically complex landscapes. It is therefore not surprising that infectious disease researchers are increasingly taking a landscape genetics perspective to elucidate mechanisms underlying basic ecological processes driving infectious disease dynamics and to understand the linkage between spatially dependent population processes and the geographic distribution of genetic variation within both hosts and parasites. The increasing availability of genetic information on hosts and parasites when coupled to their ecological interactions can lead to insights for predicting patterns of disease emergence, spread and control. Here, we review research progress in this area based on four different motivations for the application of landscape genetics approaches: (i) assessing the spatial organization of genetic variation in parasites as a function of environmental variability, (ii) using host population genetic structure as a means to parameterize ecological dynamics that indirectly influence parasite populations, for example, gene flow and movement pathways across heterogeneous landscapes and the concurrent transport of infectious agents, (iii) elucidating the temporal and spatial scales of disease processes and (iv) reconstructing and understanding infectious disease invasion. Throughout this review, we emphasize that landscape genetic principles are relevant to infection dynamics across a range of scales from within host dynamics to global geographic patterns and that they can also be applied to unconventional 'landscapes' such as heterogeneous contact networks underlying the spread of human and livestock diseases. We conclude by discussing some general considerations and problems for inferring epidemiological processes from genetic data and try to identify possible future directions and applications for this rapidly expanding field.

Sports genetics moving forward: lessons learned from medical research.

Science.gov (United States)

Mattsson, C Mikael; Wheeler, Matthew T; Waggott, Daryl; Caleshu, Colleen; Ashley, Euan A

2016-03-01

Sports genetics can take advantage of lessons learned from human disease genetics. By righting past mistakes and increasing scientific rigor, we can magnify the breadth and depth of knowledge in the field. We present an outline of challenges facing sports genetics in the light of experiences from medical research. Sports performance is complex, resulting from a combination of a wide variety of different traits and attributes. Improving sports genetics will foremost require analyses based on detailed phenotyping. To find widely valid, reproducible common variants associated with athletic phenotypes, study sample sizes must be dramatically increased. One paradox is that in order to confirm relevance, replications in specific populations must be undertaken. Family studies of athletes may facilitate the discovery of rare variants with large effects on athletic phenotypes. The complexity of the human genome, combined with the complexity of athletic phenotypes, will require additional metadata and biological validation to identify a comprehensive set of genes involved. Analysis of personal genetic and multiomic profiles contribute to our conceptualization of precision medicine; the same will be the case in precision sports science. In the refinement of sports genetics it is essential to evaluate similarities and differences between sexes and among ethnicities. Sports genetics to date have been hampered by small sample sizes and biased methodology, which can lead to erroneous associations and overestimation of effect sizes. Consequently, currently available genetic tests based on these inherently limited data cannot predict athletic performance with any accuracy. Copyright © 2016 the American Physiological Society.

A genetic epidemiological mega analysis of smoking initiation in adolescents

NARCIS (Netherlands)

Maes, H.H.; Prom-Wormley, E.; Eaves, L.J.; Rhee, S.H.; Hewitt, J.K.; Young, S.; Corley, R.; McGue, M.K.; Iacono, W.G.; Legrand, L.; Samek, D.; Murrelle, E.L.; Silberg, J.L.; Miles, D.; Schieken, R.M.; Beunen, G.P.; Thomis, M.; Rose, R.J.; Dick, D.M.; Boomsma, D.I.; Bartels, M.; Vink, J.M.; Lichtenstein, P.; White, V.; Kaprio, J.; Neale, M.C.

2017-01-01

Introduction. Previous studies in adolescents were not adequately powered to accurately disentangle genetic and environmental influences on smoking initiation across adolescence. Methods. Mega-analysis of pooled genetically informative data on smoking initiation was performed, with structural

Perceptions of molecular epidemiology studies of HIV among stakeholders

Directory of Open Access Journals (Sweden)

Cynthia Schairer

2017-12-01

Full Text Available Background: Advances in viral sequence analysis make it possible to track the spread of infectious pathogens, such as HIV, within a population. When used to study HIV, these analyses (i.e., molecular epidemiology potentially allow inference of the identity of individual research subjects. Current privacy standards are likely insufficient for this type of public health research. To address this challenge, it will be important to understand how stakeholders feel about the benefits and risks of such research. Design and Methods: To better understand perceived benefits and risks of these research methods, in-depth qualitative interviews were conducted with HIV-infected individuals, individuals at high-risk for contracting HIV, and professionals in HIV care and prevention. To gather additional perspectives, attendees to a public lecture on molecular epidemiology were asked to complete an informal questionnaire. Results: Among those interviewed and polled, there was near unanimous support for using molecular epidemiology to study HIV. Questionnaires showed strong agreement about benefits of molecular epidemiology, but diverse attitudes regarding risks. Interviewees acknowledged several risks, including privacy breaches and provocation of anti-gay sentiment. The interviews also demonstrated a possibility that misunderstandings about molecular epidemiology may affect how risks and benefits are evaluated. Conclusions: While nearly all study participants agree that the benefits of HIV molecular epidemiology outweigh the risks, concerns about privacy must be addressed to ensure continued trust in research institutions and willingness to participate in research.

Molecular genetics

International Nuclear Information System (INIS)

Parkinson, D.R.; Krontiris, T.G.

1986-01-01

In this chapter the authors review new findings concerning the molecular genetics of malignant melanoma in the context of other information obtained from clinical, epidemiologic, and cytogenetic studies in this malignancy. These new molecular approaches promise to provide a more complete understanding of the mechanisms involved in the development of melanoma, thereby suggesting new methods for its treatment and prevention

Genetic disorders from an endogamous population

African Journals Online (AJOL)

Abdulbari Bener

b Dept. of Evidence for Population Health Unit, School of Epidemiology and Health Sciences, University of Manchester, Manchester, UK ... genetics counseling and screening for the hereditary diseases programme. Results: The ..... Elementary.

Factors influencing parents' decision to donate their healthy infant's DNA for minimal-risk genetic research.

Science.gov (United States)

Hatfield, Linda A; Pearce, Margaret M

2014-11-01

To examine factors that influence a parent's decision to donate their healthy infant's DNA for minimal-risk genetic research. Grounded theory, using semi-structured interviews conducted with 35 postpartum mother or mother-father dyads in an urban teaching hospital. Data were collected from July 2011 to January 2012. Audiorecorded semistructured interviews were conducted in private rooms with mothers or mother-father dyads 24 to 48 hr after the birth of their healthy, full-term infant. Data-driven content analysis using selected principles of grounded theory was performed. Parents' willingness to donate their healthy infant's DNA for minimal-risk pediatric genetic research emerged as a process involving three interacting components: the parents, the scientist, and the comfort of the child embedded within the context of benefit to the child. The purpose of the study and parents' perception of their commitment of time and resources determined their willingness to participate. The scientist's ability to communicate trust in the research process influenced parents' decisions. Physical discomfort of the child shaped parents' decision to donate DNA. Parental perception of a direct benefit to their child affected their willingness to discuss genetic research and its outcomes. Significant gaps and misunderstandings in parental knowledge of pediatric genetic research may affect parental willingness to donate their healthy child's DNA. Nurses knowledgeable about the decision-making process parents utilize to donate their healthy infant's DNA for minimal-risk genetic research and the factors influencing that decision are well positioned to educate parents about the role of genetics in health and illness and reassure potential research participants of the value and safeguards in pediatric genetic research. © 2014 Sigma Theta Tau International.

Institute of Genetics. Progress report on research and development activities in 1994

International Nuclear Information System (INIS)

1995-01-01

The Institute of Genetics performed R and D work on the following subjects: Effects induced by radiation, oxygen radicals, and chemical mutagens; Regulation of genetic activity; Mechanisms of tumor spreading; Genetic models of mice for simulation of defects in man; p53 and the 'dioxin' receptor as targets of toxic agents. The research results achieved in the reporting period are reviewed and explained. (orig./MG) [de

[Eco-epidemiology: towards epidemiology of complexity].

Science.gov (United States)

Bizouarn, Philippe

2016-05-01

In order to solve public health problems posed by the epidemiology of risk factors centered on the individual and neglecting the causal processes linking the risk factors with the health outcomes, Mervyn Susser proposed a multilevel epidemiology called eco-epidemiology, addressing the interdependence of individuals and their connection with molecular, individual, societal, environmental levels of organization participating in the causal disease processes. The aim of this epidemiology is to integrate more than a level of organization in design, analysis and interpretation of health problems. After presenting the main criticisms of risk-factor epidemiology focused on the individual, we will try to show how eco-epidemiology and its development could help to understand the need for a broader and integrative epidemiology, in which studies designed to identify risk factors would be balanced by studies designed to answer other questions equally vital to public health. © 2016 médecine/sciences – Inserm.

NIH Researchers Find Potential Genetic Cause of Cushing Syndrome

Science.gov (United States)

... 2017 NIH researchers find potential genetic cause of Cushing syndrome Finding may lead to therapies that prevent pituitary ... mutations in the gene CABLES1 may lead to Cushing syndrome, a rare disorder in which the body overproduces ...

The Current Status of the Disease Caused by Enterovirus 71 Infections: Epidemiology, Pathogenesis, Molecular Epidemiology, and Vaccine Development.

Science.gov (United States)

Chang, Ping-Chin; Chen, Shou-Chien; Chen, Kow-Tong

2016-09-09

Enterovirus 71 (EV71) infections have a major public health impact in the Asia-Pacific region. We reviewed the epidemiology, pathogenesis, and molecular epidemiology of EV71 infection as well as EV71 vaccine development. Previous studies were found using the search terms "enterovirus 71" and "epidemiology" or "pathogenesis" or "molecular epidemiology" or "vaccine" in Medline and PubMed. Articles that were not published in the English language, manuscripts without an abstract, and opinion articles were excluded from the review. The reported epidemiology of cases caused by EV71 infection varied from country to country; seasonal variations in incidence were observed. Most cases of EV71 infection that resulted in hospitalization for complications occurred in children less than five years old. The brainstem was the most likely major target of EV71 infection. The emergence of the EV71 epidemic in the Asia-Pacific region has been associated with the circulation of different genetic lineages (genotypes B3, B4, C1, C2, and C4) that appear to be undergoing rapid evolutionary changes. The relationship between the gene structure of the EV71 virus and the factors that ensure its survival, circulation, and evasion of immunity is still unknown. EV71 infection has emerged as an important global public health problem. Vaccine development, including the development of inactivated whole-virus live attenuated, subviral particles, and DNA vaccines, has been progressing.

Progress in research on Tourette syndrome

Science.gov (United States)

Black, Kevin J.; Jankovic, Joseph; Hershey, Tamara; McNaught, Kevin St. P.; Mink, Jonathan W.; Walkup, John

2014-01-01

Tourette syndrome (TS) is a heritable neuropsychiatric disorder commonly complicated by obsessions and compulsions, but defined by frequent unwanted movements (motor tics) and vocalizations (phonic tics) that develop in childhood or adolescence. In recent years, research on TS has progressed rapidly on several fronts. Inspired by the Fifth International Scientific Symposium on Tourette Syndrome, the articles in this special issue review advances in the phenomenology, epidemiology, genetics, pathophysiology, and treatment of TS. PMID:25436182

Epidemiology in Latin America and the Caribbean: current situation and challenges.

Science.gov (United States)

Barreto, Sandhi M; Miranda, Jaime J; Figueroa, J Peter; Schmidt, Maria Inês; Munoz, Sergio; Kuri-Morales, P Pablo; Silva, Jarbas B

2012-04-01

This article analyses the epidemiological research developments in Latin America and the Caribbean (LAC). It integrates the series commissioned by the International Epidemiological Association to all WHO Regions to identify global opportunities to promote the development of epidemiology. Health situations of the regions were analysed based on published data on selected mortality, morbidity and risk factors. Epidemiological publication output by country was estimated by Medline bibliometrics. Internet and literature searches and data provided by key informants were used to describe perspectives on epidemiological training, research and funding. Despite important advances in recent decades, LAC remains the world's most unequal region. In 2010, 10% of the LAC's people still lived in conditions of multidimensional poverty, with huge variation among countries. The region has experienced fast and complex epidemiological changes in past decades, combining increasing rates of non-communicable diseases and injuries, and keeping uncontrolled many existing endemic and emerging diseases. Overall, epidemiological publications per year increased from 160 articles between 1961 and 1970 to 2492 between 2001 and 2010. The increase in papers per million inhabitants in the past three decades varied from 57% in Panama to 1339% in Paraguay. Universities are the main epidemiological training providers. There are at least 34 universities and other institutions in the region that offer postgraduate programmes at the master's and doctoral levels in epidemiology or public health. Most LAC countries rely largely on external funding and donors to initiate and sustain long-term research efforts. Despite the limited resources, the critical mass of LAC researchers has produced significant scientific contributions. FUTURE NEEDS: The health research panorama of the region shows enormous regional discrepancies, but great prospects. Improving research and human resources capacity in the region will

Molecular epidemiology and evolutionary genetics of Mycobacterium tuberculosis in Taipei.

Science.gov (United States)

Dou, Horng-Yunn; Tseng, Fan-Chen; Lin, Chih-Wei; Chang, Jia-Ru; Sun, Jun-Ren; Tsai, Wen-Shing; Lee, Shi-Yi; Su, Ih-Jen; Lu, Jang-Jih

2008-12-22

The control of tuberculosis in densely populated cities is complicated by close human-to-human contacts and potential transmission of pathogens from multiple sources. We conducted a molecular epidemiologic analysis of 356 Mycobacterium tuberculosis (MTB) isolates from patients presenting pulmonary tuberculosis in metropolitan Taipei. Classical antibiogram studies and genetic characterization, using mycobacterial interspersed repetitive-unit-variable-number tandem-repeat (MIRU-VNTR) typing and spoligotyping, were applied after culture. A total of 356 isolates were genotyped by standard spoligotyping and the strains were compared with in the international spoligotyping database (SpolDB4). All isolates were also categorized using the 15 loci MIRU-VNTR typing method and combin with NTF locus and RD deletion analyses. Of 356 isolates spoligotyped, 290 (81.4%) displayed known spoligotypes and 66 were not identified in the database. Major spoligotypes found were Beijing lineages (52.5%), followed by Haarlem lineages (13.5%) and EAI plus EAI-like lineages (11%). When MIRU-VNTR was employed, 140 patterns were identified, including 36 clusters by 252 isolates and 104 unique patterns, and the largest cluster comprised 95 isolates from the Beijing family. The combination of spoligotyping and MIRU-VNTR revealed that 236 (67%) of the 356 isolates were clustered in 43 genotypes. Strains of the Beijing family was more likely to be of modern strain and a higher percentage of multiple drug resistance than other families combined (P = 0.08). Patients infected with Beijing strains were younger than those with other strains (mean 58.7 vs. 64.2, p = 0.02). Moreover, 85.3% of infected persons younger than 25 years had Beijing modern strain, suggesting a possible recent spread in the young population by this family of TB strain in Taipei. Our data on MTB genotype in Taipei suggest that MTB infection has not been optimally controlled. Control efforts should be reinforced in view of the

Molecular research on the genetic diversity of Tunisian date palm ...

African Journals Online (AJOL)

Molecular research on the genetic diversity of Tunisian date palm ( Phoenix dactylifera L.) using the random amplified microsatellite polymorphism (RAMPO) and amplified fragment length polymorphism (AFLP) methods.

Epidemiological research of violence against children in families in Serbia

Directory of Open Access Journals (Sweden)

Hanak Nataša

2013-01-01

Full Text Available In the paper the results of an epidemiological study conducted in 2010-2011 as a part of the regional project Balkan Epidemiological Study on Child Abuse and Neglect (BECAN are presented. The goal of the research was to estimate the prevalence of physical, psychological and sexual violence against children in the family as well as prevalence of feeling of neglect in children. Gender and age differences in the prevalence of violence, as well as differences with respect to geographic region and urbanicity of place of the children’s’ residence were also examined. The stratified cluster sample consisted of 4027 children attending the fifth and seventh grades of the primary school and the second grade of the high school. Data was collected by an adapted version of the questionnaire ICAST-C (ISPCAN Child Abuse Screening Tool-Chidren Version - ICAST-C. At least one experience of psychological violence in the lifetime was reported by 68,4% of children, whereas at least one experience of physical violence was reported by 69,2% of children. Feeling of neglect was experienced by 28.8% of children at least once in their lifetime. At least one experience of sexual violence was reported by 8.5% children, whereas 3,7% of them reported the experience of contact sexual violence in the past year. The results indicate that girls are more exposed to psychological violence and report more feeling of neglect. Conversely, boys report more exposure to sexual violence. The rate of severe forms of physical, psychological and sexual violence is about 0.5 to 1%. [Projekat je realizovan kroz Sedmi okvirni program Evropske Komisije(FP7, pod oznakom HEALTH-F2-2009-223478

Epidemiology of Cryptosporidium infection in cattle in China: a review.

Science.gov (United States)

Gong, Chao; Cao, Xue-Feng; Deng, Lei; Li, Wei; Huang, Xiang-Ming; Lan, Jing-Chao; Xiao, Qi-Cheng; Zhong, Zhi-Jun; Feng, Fan; Zhang, Yue; Wang, Wen-Bo; Guo, Ping; Wu, Kong-Ju; Peng, Guang-Neng

2017-01-01

The present review discusses the findings of cryptosporidiosis research conducted in cattle in China and highlights the currently available information on Cryptosporidium epidemiology, genetic diversity, and distribution in China, which is critical to understanding the economic and public health importance of cryptosporidiosis transmission in cattle. To date, 10 Cryptosporidium species have been detected in cattle in China, with an overall infection rate of 11.9%. The highest rate of infection (19.5%) was observed in preweaned calves, followed by that in juveniles (10.69%), postweaned juveniles (9.0%), and adult cattle (4.94%). The dominant species were C. parvum in preweaned calves and C. andersoni in postweaned, juvenile, and adult cattle. Zoonotic Cryptosporidium species (C. parvum and C. hominis) were found in cattle, indicating the possibility of transmission between humans and cattle. Different cattle breeds had significant differences in the prevalence rate and species of Cryptosporidium. This review demonstrates an age-associated, breed-associated, and geographic-related occurrence of Cryptosporidium and provides references for further understanding of the epidemiological characteristics, and for preventing and controlling the disease. © C. Gong et al., published by EDP Sciences, 2017.

Transforming Epidemiology for 21st Century Medicine and Public Health

Science.gov (United States)

Khoury, Muin J.; Lam, Tram Kim; Ioannidis, John P.A.; Hartge, Patricia; Spitz, Margaret R.; Buring, Julie E.; Chanock, Stephen J.; Croyle, Robert T.; Goddard, Katrina A.; Ginsburg, Geoffrey S.; Herceg, Zdenko; Hiatt, Robert A.; Hoover, Robert N.; Hunter, David J.; Kramer, Barnet S.; Lauer, Michael S.; Meyerhardt, Jeffrey A.; Olopade, Olufunmilayo I.; Palmer, Julie R.; Sellers, Thomas A.; Seminara, Daniela; Ransohoff, David F.; Rebbeck, Timothy R.; Tourassi, Georgia; Winn, Deborah M.; Zauber, Ann; Schully, Sheri D.

2013-01-01

In 2012, the National Cancer Institute (NCI) engaged the scientific community to provide a vision for cancer epidemiology in the 21st century. Eight overarching thematic recommendations, with proposed corresponding actions for consideration by funding agencies, professional societies, and the research community emerged from the collective intellectual discourse. The themes are (i) extending the reach of epidemiology beyond discovery and etiologic research to include multilevel analysis, intervention evaluation, implementation, and outcomes research; (ii) transforming the practice of epidemiology by moving towards more access and sharing of protocols, data, metadata, and specimens to foster collaboration, to ensure reproducibility and replication, and accelerate translation; (iii) expanding cohort studies to collect exposure, clinical and other information across the life course and examining multiple health-related endpoints; (iv) developing and validating reliable methods and technologies to quantify exposures and outcomes on a massive scale, and to assess concomitantly the role of multiple factors in complex diseases; (v) integrating “big data” science into the practice of epidemiology; (vi) expanding knowledge integration to drive research, policy and practice; (vii) transforming training of 21st century epidemiologists to address interdisciplinary and translational research; and (viii) optimizing the use of resources and infrastructure for epidemiologic studies. These recommendations can transform cancer epidemiology and the field of epidemiology in general, by enhancing transparency, interdisciplinary collaboration, and strategic applications of new technologies. They should lay a strong scientific foundation for accelerated translation of scientific discoveries into individual and population health benefits. PMID:23462917

Non-Genetic Determinants of Mosquito Competence for Malaria Parasites

Science.gov (United States)

Lefèvre, Thierry; Vantaux, Amélie; Dabiré, Kounbobr R.; Mouline, Karine; Cohuet, Anna

2013-01-01

Understanding how mosquito vectors and malaria parasites interact is of fundamental interest, and it also offers novel perspectives for disease control. Both the genetic and environmental contexts are known to affect the ability of mosquitoes to support malaria development and transmission, i.e., vector competence. Although the role of environment has long been recognized, much work has focused on host and parasite genetic effects. However, the last few years have seen a surge of studies revealing a great diversity of ways in which non-genetic factors can interfere with mosquito-Plasmodium interactions. Here, we review the current evidence for such environmentally mediated effects, including ambient temperature, mosquito diet, microbial gut flora, and infection history, and we identify additional factors previously overlooked in mosquito-Plasmodium interactions. We also discuss epidemiological implications, and the evolutionary consequences for vector immunity and parasite transmission strategies. Finally, we propose directions for further research and argue that an improved knowledge of non-genetic influences on mosquito-Plasmodium interactions could aid in implementing conventional malaria control measures and contribute to the design of novel strategies. PMID:23818841

Non-genetic determinants of mosquito competence for malaria parasites.

Directory of Open Access Journals (Sweden)

Thierry Lefèvre

Full Text Available Understanding how mosquito vectors and malaria parasites interact is of fundamental interest, and it also offers novel perspectives for disease control. Both the genetic and environmental contexts are known to affect the ability of mosquitoes to support malaria development and transmission, i.e., vector competence. Although the role of environment has long been recognized, much work has focused on host and parasite genetic effects. However, the last few years have seen a surge of studies revealing a great diversity of ways in which non-genetic factors can interfere with mosquito-Plasmodium interactions. Here, we review the current evidence for such environmentally mediated effects, including ambient temperature, mosquito diet, microbial gut flora, and infection history, and we identify additional factors previously overlooked in mosquito-Plasmodium interactions. We also discuss epidemiological implications, and the evolutionary consequences for vector immunity and parasite transmission strategies. Finally, we propose directions for further research and argue that an improved knowledge of non-genetic influences on mosquito-Plasmodium interactions could aid in implementing conventional malaria control measures and contribute to the design of novel strategies.

Secondary Analysis and Integration of Existing Data to Elucidate the Genetic Architecture of Cancer Risk and Related Outcomes, R21 | Informatics Technology for Cancer Research (ITCR)

Science.gov (United States)

This funding opportunity announcement (FOA) encourages applications that propose to conduct secondary data analysis and integration of existing datasets and database resources, with the ultimate aim to elucidate the genetic architecture of cancer risk and related outcomes. The goal of this initiative is to address key scientific questions relevant to cancer epidemiology by supporting the analysis of existing genetic or genomic datasets, possibly in combination with environmental, outcomes, behavioral, lifestyle, and molecular profiles data.

Secondary Analysis and Integration of Existing Data to Elucidate the Genetic Architecture of Cancer Risk and Related Outcomes, R01 | Informatics Technology for Cancer Research (ITCR)

Science.gov (United States)

This funding opportunity announcement (FOA) encourages applications that propose to conduct secondary data analysis and integration of existing datasets and database resources, with the ultimate aim to elucidate the genetic architecture of cancer risk and related outcomes. The goal of this initiative is to address key scientific questions relevant to cancer epidemiology by supporting the analysis of existing genetic or genomic datasets, possibly in combination with environmental, outcomes, behavioral, lifestyle, and molecular profiles data.

Identifying patients with myasthenia for epidemiological research by linkage of automated registers

DEFF Research Database (Denmark)

Pedersen, Emil Greve; Hallas, Jesper; Hansen, Klaus

2011-01-01

We validated a new method of identifying patients with incident myasthenia in automated Danish registers for the purpose of conducting epidemiological studies of the disorder.......We validated a new method of identifying patients with incident myasthenia in automated Danish registers for the purpose of conducting epidemiological studies of the disorder....

Molecular surveillance of norovirus, 2005-16 : an epidemiological analysis of data collected from the NoroNet network

NARCIS (Netherlands)

van Beek, Janko; de Graaf, Miranda; Al-Hello, Haider; Allen, David J; Ambert-Balay, Katia; Botteldoorn, Nadine; Brytting, Mia; Buesa, Javier; Cabrerizo, Maria; Chan, Martin; Cloak, Fiona; Di Bartolo, Ilaria; Guix, Susana; Hewitt, Joanne; Iritani, Nobuhiro; Jin, Miao; Johne, Reimar; Lederer, Ingeborg; Mans, Janet; Martella, Vito; Maunula, Leena; McAllister, Georgina; Niendorf, Sandra; Niesters, Hubert G; Podkolzin, Alexander T; Poljsak-Prijatelj, Mateja; Rasmussen, Lasse Dam; Reuter, Gábor; Tuite, Gráinne; Kroneman, Annelies; Vennema, Harry; Koopmans, Marion P G

BACKGROUND: The development of a vaccine for norovirus requires a detailed understanding of global genetic diversity of noroviruses. We analysed their epidemiology and diversity using surveillance data from the NoroNet network. METHODS: We included genetic sequences of norovirus specimens obtained

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

Directory of Open Access Journals (Sweden)

Clarence C Gravlee

2009-09-01

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

Genetics of Human Sexual Behavior: Where We Are, Where We Are Going.

Science.gov (United States)

Jannini, Emmanuele A; Burri, Andrea; Jern, Patrick; Novelli, Giuseppe

2015-04-01

One of the never-ending debates in the developing field of sexual medicine is the extent to which genetics and experiences (i.e., "nature and nurture") contribute to sexuality. The debate continues despite the fact that these two sides have different abilities to create a scientific environment to support their cause. Contemporary genetics has produced plenty of recent evidence, however, not always confirmed or sufficiently robust. On the other hand, the more traditional social theorists, frequently without direct evidence confirming their positions, criticize, sometimes with good arguments, the methods and results of the other side. The aim of this article is to critically evaluate existent evidence that used genetic approaches to understand human sexuality. An expert in sexual medicine (E.A.J.), an expert in medical genetics (G.N.), and two experts in genetic epidemiology and quantitative genetics, with particular scientific experience in female sexual dysfunction (A.B.) and in premature ejaculation (P.J.), contributed to this review. Expert opinion supported by critical review of the currently available literature. The existing literature on human sexuality provides evidence that many sexuality-related behaviors previously considered to be the result of cultural influences (such as mating strategies, attractiveness and sex appeal, propensity to fidelity or infidelity, and sexual orientation) or dysfunctions (such as premature ejaculation or female sexual dysfunction) seem to have a genetic component. Current evidence from genetic epidemiologic studies underlines the existence of biological and congenital factors regulating male and female sexuality. However, these relatively recent findings ask for replication in methodologically more elaborated studies. Clearly, increased research efforts are needed to further improve understanding the genetics of human sexuality. Jannini EA, Burri A, Jern P, and Novelli G. Genetics of human sexual behavior: Where we are, where

Genetic Epidemiology of Spontaneous Subarachnoid Hemorrhage

DEFF Research Database (Denmark)

Korja, Miikka; Silventoinen, Karri; McCarron, Peter

2010-01-01

and 1 opposite sex) and 492 discordant twin pairs for SAH. The concordance for SAH in monozygotic twins was 3.1% compared with 0.27% in dizygotic twins, suggesting at most a modest role for genetic factors in the etiology of SAH. The population-based probability estimate for SAH in dizygotic siblings...... of a patient with SAH is 0.54%, and only 1 of 185 full siblings experience familial SAH. The corresponding risk of SAH in monozygotic twins is 5.9%. Model-fitting, which was based on the comparison of the few monozygotic and dizygotic pairs, suggested that the estimated heritability of SAH is 41%. CONCLUSIONS...

Rabies in southeast Brazil: a change in the epidemiological pattern.

Science.gov (United States)

Queiroz, Luzia Helena; Favoretto, Silvana Regina; Cunha, Elenice Maria S; Campos, Angélica Cristine A; Lopes, Marissol Cardoso; de Carvalho, Cristiano; Iamamoto, Keila; Araújo, Danielle Bastos; Venditti, Leandro Lima R; Ribeiro, Erica S; Pedro, Wagner André; Durigon, Edison Luiz

2012-01-01

This epidemiological study was conducted using antigenic and genetic characterisation of rabies virus isolates obtained from different animal species in the southeast of Brazil from 1993 to 2007. An alteration in the epidemiological profile was observed. One hundred two samples were tested using a panel of eight monoclonal antibodies, and 94 were genetically characterised by sequencing the nucleoprotein gene. From 1993 to 1997, antigenic variant 2 (AgV-2), related to a rabies virus maintained in dog populations, was responsible for rabies cases in dogs, cats, cattle and horses. Antigenic variant 3 (AgV-3), associated with Desmodus rotundus, was detected in a few cattle samples from rural areas. From 1998 to 2007, rabies virus was detected in bats and urban pets, and four distinct variants were identified. A nucleotide similarity analysis resulted in two primary groups comprising the dog and bat antigenic variants and showing the distinct endemic cycles maintained in the different animal species in this region.

Public health genomics and genetic test evaluation: the challenge of conducting behavioural research on the utility of lifestyle-genetic tests.

Science.gov (United States)

Sanderson, Saskia C; Wardle, Jane; Humphries, Steve E

2008-01-01

Human genetics research is increasingly concerned with multifactorial conditions such as diabetes and heart disease, which are influenced not only by genetic but also lifestyle factors such as diet and smoking. Although the results of 'lifestyle-genetic' tests using this information could conceivably motivate lifestyle changes in the future, companies are already selling such tests and related lifestyle advice commercially. Some academics and lobby groups have condemned the companies for selling these tests in advance of scientific support. Others are concerned that the tests may not motivate lifestyle improvements, instead causing distress in people receiving adverse test results and complacency in those receiving reassuring results. There is currently no regulatory oversight of genetic test utility, despite consensus in the Public Health Genomics community that clinical utility (including psychological and behavioural impact) of all emerging genetic tests should be evaluated before being introduced for individual use. Clearly, empirical data in this area is much needed, to inform understanding of the potential utility of these tests, and of whether stricter regulation of commercial exploitation is needed. In this article, we review the current situation regarding lifestyle-genetic tests, and discuss the challenges inherent in conducting this kind of behavioural research in the genomics era. Copyright 2008 S. Karger AG, Basel.

Invited review: Genetic and genomic mouse models for livestock research

Directory of Open Access Journals (Sweden)

D. Arends

2018-02-01

Full Text Available Knowledge about the function and functioning of single or multiple interacting genes is of the utmost significance for understanding the organism as a whole and for accurate livestock improvement through genomic selection. This includes, but is not limited to, understanding the ontogenetic and environmentally driven regulation of gene action contributing to simple and complex traits. Genetically modified mice, in which the functions of single genes are annotated; mice with reduced genetic complexity; and simplified structured populations are tools to gain fundamental knowledge of inheritance patterns and whole system genetics and genomics. In this review, we briefly describe existing mouse resources and discuss their value for fundamental and applied research in livestock.

Research Methods in Healthcare Epidemiology and Antimicrobial Stewardship: Use of Administrative and Surveillance Databases.

Science.gov (United States)

Drees, Marci; Gerber, Jeffrey S; Morgan, Daniel J; Lee, Grace M

2016-11-01

Administrative and surveillance data are used frequently in healthcare epidemiology and antimicrobial stewardship (HE&AS) research because of their wide availability and efficiency. However, data quality issues exist, requiring careful consideration and potential validation of data. This methods paper presents key considerations for using administrative and surveillance data in HE&AS, including types of data available and potential use, data limitations, and the importance of validation. After discussing these issues, we review examples of HE&AS research using administrative data with a focus on scenarios when their use may be advantageous. A checklist is provided to help aid study development in HE&AS using administrative data. Infect Control Hosp Epidemiol 2016;1-10.

The European concerted action on air pollution epidemiology

Energy Technology Data Exchange (ETDEWEB)

Ackermann-Liebrich, U. [Basel Univ. (Switzerland). Inst. for Social and Preventive Medicine

1995-12-31

The European Concerted Action on Air Pollution Epidemiology was started in 1990 with the aim of bringing together European researchers in the field and improving research through collaboration and by preparing documents which would help to this end and by organizing workshops. A further aim was to stimulate cooperative research. Air pollution epidemiology investigates human effects of community air pollution by epidemiological methods. Epidemiology in general investigates the distribution and determinants of health-related states and events in populations. Diseases in which air pollution may play a significant role are mainly diseases of the respiratory system, for example chronic non-specific lung disease and lung cancer. Most diseases caused by air pollution can also be caused by other factors. Air pollution epidemiology is therefore specific in the expo variable (community air pollution) rather than in the type of health effects being studied. Air pollution epidemiology is beset with some specially challenging difficulties: ubiquitous exposure and as a consequence limited heterogeneity in exposure, low relative risks, few or specific health end points, and strong confounding. Further on the exposure-effect relationship is complicated by assumptions inherent to different study designs which relate to the exposure duration necessary to produce a certain health effect. In reports and workshops the concerted action tries to propose strategies to deal with these problems. (author)

The European concerted action on air pollution epidemiology

Energy Technology Data Exchange (ETDEWEB)

Ackermann-Liebrich, U [Basel Univ. (Switzerland). Inst. for Social and Preventive Medicine

1996-12-31

The European Concerted Action on Air Pollution Epidemiology was started in 1990 with the aim of bringing together European researchers in the field and improving research through collaboration and by preparing documents which would help to this end and by organizing workshops. A further aim was to stimulate cooperative research. Air pollution epidemiology investigates human effects of community air pollution by epidemiological methods. Epidemiology in general investigates the distribution and determinants of health-related states and events in populations. Diseases in which air pollution may play a significant role are mainly diseases of the respiratory system, for example chronic non-specific lung disease and lung cancer. Most diseases caused by air pollution can also be caused by other factors. Air pollution epidemiology is therefore specific in the expo variable (community air pollution) rather than in the type of health effects being studied. Air pollution epidemiology is beset with some specially challenging difficulties: ubiquitous exposure and as a consequence limited heterogeneity in exposure, low relative risks, few or specific health end points, and strong confounding. Further on the exposure-effect relationship is complicated by assumptions inherent to different study designs which relate to the exposure duration necessary to produce a certain health effect. In reports and workshops the concerted action tries to propose strategies to deal with these problems. (author)

Advances in genetics and immunology: the importance of basic research to prevention of occupational diseases

International Nuclear Information System (INIS)

Omenn, G.S.

1984-01-01

Differences among workers in susceptibility to workplace exposures to environmental agents such as metals, ultraviolet radiation, and x-radiation are discussed. The distinction is made between the need for (1) monitoring for effects on the genetic material (genetic toxicology) and (2) screening for predisposing inherited traits (eco-genetics). Genetically-determined differences in susceptibility are discussed in relation to mechanisms of metabolism and of target sites. While there is not enough evidence to support routine genetic screening at this time there is common agreement that several promising areas for research on potential genetic predispositions warrant careful study. There is also reassuring evidence that productive relationships for research can be established among unions, management, and universities. 56 references, 3 figures, 7 tables

The historical role of species from the Solanaceae plant family in genetic research.

Science.gov (United States)

Gebhardt, Christiane

2016-12-01

This article evaluates the main contributions of tomato, tobacco, petunia, potato, pepper and eggplant to classical and molecular plant genetics and genomics since the beginning of the twentieth century. Species from the Solanaceae family form integral parts of human civilizations as food sources and drugs since thousands of years, and, more recently, as ornamentals. Some Solanaceous species were subjects of classical and molecular genetic research over the last 100 years. The tomato was one of the principal models in twentieth century classical genetics and a pacemaker of genome analysis in plants including molecular linkage maps, positional cloning of disease resistance genes and quantitative trait loci (QTL). Besides that, tomato is the model for the genetics of fruit development and composition. Tobacco was the major model used to establish the principals and methods of plant somatic cell genetics including in vitro propagation of cells and tissues, totipotency of somatic cells, doubled haploid production and genetic transformation. Petunia was a model for elucidating the biochemical and genetic basis of flower color and development. The cultivated potato is the economically most important Solanaceous plant and ranks third after wheat and rice as one of the world's great food crops. Potato is the model for studying the genetic basis of tuber development. Molecular genetics and genomics of potato, in particular association genetics, made valuable contributions to the genetic dissection of complex agronomic traits and the development of diagnostic markers for breeding applications. Pepper and eggplant are horticultural crops of worldwide relevance. Genetic and genomic research in pepper and eggplant mostly followed the tomato model. Comparative genome analysis of tomato, potato, pepper and eggplant contributed to the understanding of plant genome evolution.

Epidemiology, molecular epidemiology, and risk factors for renal cell carcinoma

Directory of Open Access Journals (Sweden)

Chiara Paglino

2011-12-01

Full Text Available Despite only accounting for approximately 2% of all new primary cancer cases, renal cell carcinoma (RCC incidence has dramatically increased over time. Incidence rates vary greatly according to geographic areas, so that it is extremely likely that exogenous risk factors could play an important role in the development of this cancer. Several risk factors have been linked with RCC, including cigarette smoking, obesity, hypertension (and antihypertensive drugs, chronic kidney diseases (also dialysis and transplantation, as well as the use of certain analgesics. Furthermore, although RCC has not generally been considered an occupational cancer, several types of occupationally-derived exposures have been implicated in its pathogenesis. These include exposure to asbestos, chlorinated solvents, gasoline, diesel exhaust fumes, polycyclic aromatic hydrocarbons, printing inks and dyes, cadmium and lead. Finally, families with a predisposition to the development of renal neoplasms were identified and the genes involved discovered and characterized. Therefore, there are now four well-characterized, genetically determined syndromes associated with an increased incidence of kidney tumors, i.e., Von Hippel Lindau (VHL, Hereditary Papillary Renal Carcinoma (HPRC, Birt-Hogg-Dubé Syndrome (BHD, and Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC. This review will address present knowledge about the epidemiology, molecular epidemiology and risk factors of RCC.

Research Methods in Healthcare Epidemiology and Antimicrobial Stewardship-Mathematical Modeling.

Science.gov (United States)

Barnes, Sean L; Kasaie, Parastu; Anderson, Deverick J; Rubin, Michael

2016-11-01

Mathematical modeling is a valuable methodology used to study healthcare epidemiology and antimicrobial stewardship, particularly when more traditional study approaches are infeasible, unethical, costly, or time consuming. We focus on 2 of the most common types of mathematical modeling, namely compartmental modeling and agent-based modeling, which provide important advantages-such as shorter developmental timelines and opportunities for extensive experimentation-over observational and experimental approaches. We summarize these advantages and disadvantages via specific examples and highlight recent advances in the methodology. A checklist is provided to serve as a guideline in the development of mathematical models in healthcare epidemiology and antimicrobial stewardship. Infect Control Hosp Epidemiol 2016;1-7.

Genetics of Post-Traumatic Stress Disorder: Informing Clinical Conceptualizations and Promoting Future Research

Science.gov (United States)

Nugent, Nicole R.; Amstadter, Ananda B.; Koenen, Karestan C.

2009-01-01

The purpose of this article is to provide an overview of genetic research involving post-traumatic stress disorder (PTSD). First, we summarize evidence for genetic influences on PTSD from family investigations. Second, we discuss the distinct contributions to our understanding of the genetics of PTSD permitted by twin studies. Finally, we summarize findings from molecular genetic studies, which have the potential to inform our understanding of underlying biological mechanisms for the development of PTSD. PMID:18412098

CRISPR-Cas9: a promising genetic engineering approach in cancer research

Science.gov (United States)

Ratan, Zubair Ahmed; Son, Young-Jin; Uddin, Bhuiyan Mohammad Mahtab; Yusuf, Md. Abdullah; Zaman, Sojib Bin; Kim, Jong-Hoon; Banu, Laila Anjuman

2018-01-01

Bacteria and archaea possess adaptive immunity against foreign genetic materials through clustered regularly interspaced short palindromic repeat (CRISPR) systems. The discovery of this intriguing bacterial system heralded a revolutionary change in the field of medical science. The CRISPR and CRISPR-associated protein 9 (Cas9) based molecular mechanism has been applied to genome editing. This CRISPR-Cas9 technique is now able to mediate precise genetic corrections or disruptions in in vitro and in vivo environments. The accuracy and versatility of CRISPR-Cas have been capitalized upon in biological and medical research and bring new hope to cancer research. Cancer involves complex alterations and multiple mutations, translocations and chromosomal losses and gains. The ability to identify and correct such mutations is an important goal in cancer treatment. In the context of this complex cancer genomic landscape, there is a need for a simple and flexible genetic tool that can easily identify functional cancer driver genes within a comparatively short time. The CRISPR-Cas system shows promising potential for modeling, repairing and correcting genetic events in different types of cancer. This article reviews the concept of CRISPR-Cas, its application and related advantages in oncology. PMID:29434679

Integration of Molecular Pathology, Epidemiology, and Social Science for Global Precision Medicine

Science.gov (United States)

Nishi, Akihiro; Milner, Danny A; Giovannucci, Edward L.; Nishihara, Reiko; Tan, Andy S.; Kawachi, Ichiro; Ogino, Shuji

2015-01-01

Summary The precision medicine concept and the unique disease principle imply that each patient has unique pathogenic processes resulting from heterogeneous cellular genetic and epigenetic alterations, and interactions between cells (including immune cells) and exposures, including dietary, environmental, microbial, and lifestyle factors. As a core method field in population health science and medicine, epidemiology is a growing scientific discipline that can analyze disease risk factors, and develop statistical methodologies to maximize utilization of big data on populations and disease pathology. The evolving transdisciplinary field of molecular pathological epidemiology (MPE) can advance biomedical and health research by linking exposures to molecular pathologic signatures, enhancing causal inference, and identifying potential biomarkers for clinical impact. The MPE approach can be applied to any diseases, although it has been most commonly used in neoplastic diseases (including breast, lung and colorectal cancers) because of availability of various molecular diagnostic tests. However, use of state-of-the-art genomic, epigenomic and other omic technologies and expensive drugs in modern healthcare systems increases racial, ethnic and socioeconomic disparities. To address this, we propose to integrate molecular pathology, epidemiology, and social science. Social epidemiology integrates the latter two fields. The integrative social MPE model can embrace sociology, economics and precision medicine, address global health disparities and inequalities, and elucidate biological effects of social environments, behaviors, and networks. We foresee advancements of molecular medicine, including molecular diagnostics, biomedical imaging, and targeted therapeutics, which should benefit individuals in a global population, by means of an interdisciplinary approach of integrative MPE and social health science. PMID:26636627

Integration of molecular pathology, epidemiology and social science for global precision medicine.

Science.gov (United States)

Nishi, Akihiro; Milner, Danny A; Giovannucci, Edward L; Nishihara, Reiko; Tan, Andy S; Kawachi, Ichiro; Ogino, Shuji

2016-01-01

The precision medicine concept and the unique disease principle imply that each patient has unique pathogenic processes resulting from heterogeneous cellular genetic and epigenetic alterations and interactions between cells (including immune cells) and exposures, including dietary, environmental, microbial and lifestyle factors. As a core method field in population health science and medicine, epidemiology is a growing scientific discipline that can analyze disease risk factors and develop statistical methodologies to maximize utilization of big data on populations and disease pathology. The evolving transdisciplinary field of molecular pathological epidemiology (MPE) can advance biomedical and health research by linking exposures to molecular pathologic signatures, enhancing causal inference and identifying potential biomarkers for clinical impact. The MPE approach can be applied to any diseases, although it has been most commonly used in neoplastic diseases (including breast, lung and colorectal cancers) because of availability of various molecular diagnostic tests. However, use of state-of-the-art genomic, epigenomic and other omic technologies and expensive drugs in modern healthcare systems increases racial, ethnic and socioeconomic disparities. To address this, we propose to integrate molecular pathology, epidemiology and social science. Social epidemiology integrates the latter two fields. The integrative social MPE model can embrace sociology, economics and precision medicine, address global health disparities and inequalities, and elucidate biological effects of social environments, behaviors and networks. We foresee advancements of molecular medicine, including molecular diagnostics, biomedical imaging and targeted therapeutics, which should benefit individuals in a global population, by means of an interdisciplinary approach of integrative MPE and social health science.

Epidemiological studies of radiation workers in nuclear facilities

International Nuclear Information System (INIS)

Iwai, Satoshi; Semba, Tsuyoshi; Ishida, Kenji; Takagi, Syunji; Igari, Takafumi

2017-01-01

Regarding workers at nuclear facilities, this paper described INWORKS epidemiological research published in 2015, cooperative cohort epidemiological research of IARC 15 countries 10 years before that (15-country study), and the flow of radiation epidemiological research in the period from 15-country study to INWORKS. INWORKS is a retrospective cohort study to investigate the correlation between mortality due to solid cancer, blood cancer, and cardiovascular diseases in workers in three countries of France / the U.K. / the U.S. and low dose exposure through long-term photon external exposure. It obtained the data showing the statistical significance of increased cancer death rate. However, from the subjects of the analysis, no significant evaluation was made on neutron exposure and internal exposure. Statistically significant cancer mortality was confirmed in 15-country study at low dose, low dose rate, and prolonged exposure, but significant cancer mortality rate could not be confirmed excluding Canadian data, which had problems in dose evaluation. In the epidemiological studies of cancer mortality rates of radiation workers in nuclear power industries performed in France / the U.K. / the U.S. in the period ranging from 15-country study to INWORKS, significant difference was not recognized between cancer death rate and excessive relative risk (ERR) compared with LSS epidemiological research studies that handled acute exposure. Several tasks are still remaining. (A.O.)

Genetic Influences on Adolescent Sexual Behavior: Why Genes Matter for Environmentally-Oriented Researchers

Science.gov (United States)

Harden, K. Paige

2013-01-01

There are dramatic individual differences among adolescents in how and when they become sexually active adults, and “early” sexual activity is frequently cited as a cause of concern for scientists, policymakers, and the general public. Understanding the causes and developmental impact of adolescent sexual activity can be furthered by considering genes as a source of individual differences. Quantitative behavioral genetics (i.e., twin and family studies) and candidate gene association studies now provide clear evidence for the genetic underpinnings of individual differences in adolescent sexual behavior and related phenotypes. Genetic influences on sexual behavior may operate through a variety of direct and indirect mechanisms, including pubertal development, testosterone levels, and dopaminergic systems. Genetic differences may be systematically associated with exposure to environments that are commonly treated as causes of sexual behavior (gene-environment correlation). Possible gene-environment correlations pose a serious challenge for interpreting the results of much behavioral research. Multivariate, genetically-informed research on adolescent sexual behavior compares twins and family members as a form of “quasi-experiment”: How do twins who differ in their sexual experiences differ in their later development? The small but growing body of genetically-informed research has already challenged dominant assumptions regarding the etiology and sequelae of adolescent sexual behavior, with some studies indicating possible positive effects of teenage sexuality. Studies of gene × environment interaction may further elucidate the mechanisms by which genes and environments combine to shape the development of sexual behavior and its psychosocial consequences. Overall, the existence of heritable variation in adolescent sexual behavior has profound implications for environmentally-oriented theory and research. PMID:23855958

Unwarranted optimism in media portrayals of genetic research on addiction overshadows critical ethical and social concerns.

Science.gov (United States)

Ostergren, Jenny E; Dingel, Molly J; McCormick, Jennifer B; Koenig, Barbara A

2015-01-01

The cost of addiction in the United States, in combination with a host of new tools and techniques, has fueled an explosion of genetic research on addiction. Because the media has the capacity to reflect and influence public perception, there is a need to examine how treatments and preventive approaches projected to emerge from addiction genetic research are presented to the public. The authors conducted a textual analysis of 145 news articles reporting on genetic research on addiction from popular print media in the United States and from popular news and medical internet sites. In articles that report on prevention, the media emphasize vaccine development and identifying individuals at genetic risk through population screening. Articles that emphasize treatment often promote current pharmaceutical solutions and highlight the possibility of tailoring treatments to specific genetic variants. The authors raise concerns about the tendency of this coverage to focus on the benefits of pharmaceutical treatments and genetic-based approaches to prevention while neglecting or downplaying potential risks and ethical issues. This analysis suggests a need for more balanced, evidence-based media reporting on the potential outcomes of genetic research.

Profesi Epidemiologi

Directory of Open Access Journals (Sweden)

Buchari Lapau

2011-01-01

Full Text Available Makalah ini pertama kali menjelaskan perlu adanya profesi kesehatan masyarakat dalam rangka pembangunan kesehatan. Lalu dijelaskan apa profesi itu dan standar keberadaan profesi, atas dasar mana dapat ditetapkan bahwa pelayanan epidemiologi merupakan salah satu profesi. Dalam rangka pembinaan profesi kesehatan masyarakat, IAKMI dan APTKMI telah membentuk Majelis Kolegium Kesehatan Masyarakat Indonesia (MKKMI yang terdiri atas 8 kolegium antara lain Kolegium Epidemiologi, yang telah menyusun Standar Profesi Epidemiologi yang terdiri atas beberapa standar. Masing-masing standar dijelaskan mulai dari kurikulum, standar pelayanan epidmiologi, profil epidemiolog kesehatan, peran epidemiolog kesehatan, fungsi epidemiolog kesehatan, standar kompetensi epidemiologi, dan standar pendidikan profesi epidemiologi.

Ophthalmic epidemiology in Europe

DEFF Research Database (Denmark)

Delcourt, Cécile; Korobelnik, Jean-François; Buitendijk, Gabriëlle H S

2016-01-01

The European Eye Epidemiology (E3) consortium is a recently formed consortium of 29 groups from 12 European countries. It already comprises 21 population-based studies and 20 other studies (case-control, cases only, randomized trials), providing ophthalmological data on approximately 170,000 Euro......The European Eye Epidemiology (E3) consortium is a recently formed consortium of 29 groups from 12 European countries. It already comprises 21 population-based studies and 20 other studies (case-control, cases only, randomized trials), providing ophthalmological data on approximately 170......,000 European participants. The aim of the consortium is to promote and sustain collaboration and sharing of data and knowledge in the field of ophthalmic epidemiology in Europe, with particular focus on the harmonization of methods for future research, estimation and projection of frequency and impact...

Toward Evidence-Based Genetic Research on Lifelong Premature Ejaculation: A Critical Evaluation of Methodology

Science.gov (United States)

2011-01-01

Recently, four premature ejaculation (PE) subtypes have been distinguished on the basis of the duration of the intravaginal ejaculation latency time (IELT). These four PE subtypes have different etiologies and pathogeneses. Genetic research on PE should consider the existence of these PE subtypes and the accurate measurement of the IELT with a stopwatch. Currently, three methods of genetic research on PE have been used. They differ in the investigated population, tool of measurement, study design, and variables of PE. From animal and human research, it is derived that the central serotonergic system "modulates" ejaculation, whereas the ejaculation (reflex) itself is probably not under direct influence of the serotonergic system, but rather under the influence of other neurotransmitter systems in the spinal cord. For genetic research on PE, it is important to take into account that the (serotonergic) modulation of the IELT is variable among men and may even be absent. This means that serotonergic genetic polymorphisms may only be found in men with PE who respond with an ejaculation delay treatment with a selective serotonin reuptake inhibitor. PMID:21344023

Testing Skype as an interview method in epidemiologic research: response and feasibility.

Science.gov (United States)

Weinmann, Tobias; Thomas, Silke; Brilmayer, Susanne; Heinrich, Sabine; Radon, Katja

2012-12-01

Despite its popularity, Skype has not been tested as a tool for epidemiologic research. We examined its feasibility in Germany. A population-based sample of young adults was randomly invited to a Skype (n = 150) or a phone interview (n = 150). Response and duration of interviews were analysed to evaluate the feasibility of Skype interviews. Response was low and, with 10 % (95 % CI 5-15 %), even worse among Skype candidates, compared to 22 % (15-28 %) in the phone group. A third of the Skype group asked for being interviewed by phone. Median duration was 34.0 minutes for Skype interviews and 37.0 minutes for phone interviews. Skype is not yet a feasible tool for data collection in Germany.

Linking healthcare associated norovirus outbreaks: a molecular epidemiologic method for investigating transmission

Directory of Open Access Journals (Sweden)

Andrews Nick

2006-07-01

Full Text Available Abstract Background Noroviruses are highly infectious pathogens that cause gastroenteritis in the community and in semi-closed institutions such as hospitals. During outbreaks, multiple units within a hospital are often affected, and a major question for control programs is: are the affected units part of the same outbreak or are they unrelated transmission events? In practice, investigators often assume a transmission link based on epidemiological observations, rather than a systematic approach to tracing transmission. Here, we present a combined molecular and statistical method for assessing: 1 whether observed clusters provide evidence of local transmission and 2 the probability that anecdotally|linked outbreaks truly shared a transmission event. Methods 76 healthcare associated outbreaks were observed in an active and prospective surveillance scheme of 15 hospitals in the county of Avon, England from April 2002 to March 2003. Viral RNA from 64 out of 76 specimens from distinct outbreaks was amplified by reverse transcription-PCR and was sequenced in the polymerase (ORF 1 and capsid (ORF 2 regions. The genetic diversity, at the nucleotide level, was analysed in relation to the epidemiological patterns. Results Two out of four genetic and epidemiological clusters of outbreaks were unlikely to have occurred by chance alone, thus suggesting local transmission. There was anecdotal epidemiological evidence of a transmission link among 5 outbreaks pairs. By combining this epidemiological observation with viral sequence data, the evidence of a link remained convincing in 3 of these pairs. These results are sensitive to prior beliefs of the strength of epidemiological evidence especially when the outbreak strains are common in the background population. Conclusion The evidence suggests that transmission between hospitals units does occur. Using the proposed criteria, certain hypothesized transmission links between outbreaks were supported while

Progress report on research and development work 1991 of the Institute of Genetics and Toxicology of Fissionable Materials, Karlsruhe Nuclear Research Center

International Nuclear Information System (INIS)

1991-03-01

The present annual report describes the results of research work done by the Institute of Genetics and Toxicology of Fissionable Materials (IGT) in 1991. The following eight subjects were dealt with: genetic repair; genetic regulation; biological carcinogenesis; molecular genetics of eukaryontic genes; genetic mouse models for human illnesses; radiation toxicology of actinides; molecular and cellular environmental toxicology, and in vivo fractionation and speciation of actinides. (MG) [de

Are Leadership and Management Essential for Good Research? An Interview Study of Genetic Researchers

Science.gov (United States)

Antes, Alison L.; Mart, Adelina; DuBois, James M.

2016-01-01

Principal investigators are responsible for a myriad of leadership and management activities in their work. The practices they employ to navigate these responsibilities ultimately influence the quality and integrity of research. However, leadership and management roles in research have received scant empirical examination. Semi-structured interviews with 32 National Institutes of Health (NIH)-funded genetic researchers revealed that they considered leadership and management essential for effective research, but their scientific training inadequately prepared them. We also report management practices that the researchers described employing in their labs, as well as their perceptions of a proposed intervention to enhance laboratory leadership. These findings suggest best practices for the research community, future directions for scientific training, and implications for research on leadership and management in science. PMID:27646401

Are Leadership and Management Essential for Good Research? An Interview Study of Genetic Researchers.

Science.gov (United States)

Antes, Alison L; Mart, Adelina; DuBois, James M

2016-12-01

Principal investigators are responsible for a myriad of leadership and management activities in their work. The practices they use to navigate these responsibilities ultimately influence the quality and integrity of research. However, leadership and management roles in research have received scant empirical examination. Semi-structured interviews with 32 National Institutes of Health (NIH)-funded genetic researchers revealed that they considered leadership and management essential for effective research, but their scientific training inadequately prepared them. We also report management practices that the researchers described using in their labs, as well as their perceptions of a proposed intervention to enhance laboratory leadership. These findings suggest best practices for the research community, future directions for scientific training, and implications for research on leadership and management in science.

Psychiatric genetic research at the National Institute of Mental Health

Energy Technology Data Exchange (ETDEWEB)

Berg, K.; Mullican, C.; Maestri, N. [NIMH/NIH, Rockville, MD (United States)] [and others

1994-12-15

For some time it has been known through the results of family, twin, and adoption studies that hereditary appears to play a significant casual role in many mental disorders, including schizophrenia, bipolar disorder, and other mood disorders, Alzheimer`s Disease, panic disorder, obsessive compulsive disorder, autism, dyslexia, and Tourette`s syndrome. The precise patterns of inheritance of these complex disorders have not been determined, nor have the relevant genes been localized or cloned. Because the genetics are complex and because there is also clearly an environmental contribution to behavior, we expect the analysis of the genetics of mental illness to be arduous and not quickly resolved. There are several compelling reasons to continue to focus our attention on uncovering the genetic factors for severe mental illness. Prominent among these are the implications for better treatment of mental disorders. The National Institute of Mental Health supports a wide range of studies on psychiatric genetic research. 16 refs.

Intra-species diversity and epidemiology varies among coagulase-negative Staphylococcus species causing bovine intramammary infections.

Science.gov (United States)

Piessens, V; De Vliegher, S; Verbist, B; Braem, G; Van Nuffel, A; De Vuyst, L; Heyndrickx, M; Van Coillie, E

2012-02-24

Although many studies report coagulase-negative staphylococci (CNS) as the predominant cause of subclinical bovine mastitis, their epidemiology is poorly understood. In the current study, the genetic diversity within four CNS species frequently associated with bovine intramammary infections, Staphylococcus haemolyticus, S. simulans, S. chromogenes, and S. epidermidis, was determined. For epidemiological purposes, CNS genotypes recovered from bovine milk collected on six Flemish dairy farms were compared with those from the farm environment, and their distribution within the farms was investigated. Genetic diversity was assessed by two molecular typing techniques, amplification fragment length polymorphism (AFLP) and random amplification of polymorphic DNA (RAPD) analysis. Subtyping revealed the highest genetic heterogeneity among S. haemolyticus isolates. A large variety of genotypes was found among environmental isolates, of which several could be linked with intramammary infection, indicating that the environment could act as a potential source for infection. For S. simulans, various genotypes were found in the environment, but a link with IMI was less obvious. For S. epidermidis and S. chromogenes, genetic heterogeneity was limited and the sporadic isolates from environment displayed largely the same genotypes as those from milk. The higher clonality of the S. epidermidis and S. chromogenes isolates from milk suggests that specific genotypes probably disseminate within herds and are more udder-adapted. Environmental sources and cow-to-cow transmission both seem to be involved in the epidemiology of CNS, although their relative importance might substantially vary between species. Copyright © 2011 Elsevier B.V. All rights reserved.

The epidemiological characteristics and genetic diversity of dengue virus during the third largest historical outbreak of dengue in Guangdong, China, in 2014.

Science.gov (United States)

Sun, Jiufeng; Wu, De; Zhou, Huiqiong; Zhang, Huan; Guan, Dawei; He, Xiang; Cai, Songwu; Ke, Changwen; Lin, Jinyan

2016-01-01

The third largest historical outbreak of dengue occurred during July to December 2014, in 20 of 21 cities of Guangdong, China. The epidemiological and molecular characteristics of the introduction, expansion and phylogeny of the DENV isolates involved in this outbreak were investigated. A combination analyses of epidemiological characteristics and genetic diversity of dengue virus was performed in this study. In total, 45,236 cases and 6 fatalities were reported. Unemployed individuals, retirees and retailers were the most affected populations. A total of 6024 cases were verified to have DENV infections by nucleic acid detection, of which 5947, 74 and 3 were confirmed to have DENV-1, -2, and -3 infections, respectively. Phylogenetic analyses of DENV-1 isolates were assigned into three genotypes (I, IV, and V). Genotype V was the predominant genotype that likely originated from Singapore. The DENV-2 isolates were assigned to the Cosmopolitan and Asian I genotypes. A unique DENV-3 isolate (genotype III) shared high similarity with isolates obtained from Guangdong in 2013. A combination analyses demonstrated the multiple geographical origins of this outbreak, and highlight the importance of early detection, the case management and vector surveillance for preventing further dengue epidemics in Guangdong. Copyright © 2015 The British Infection Association. Published by Elsevier Ltd. All rights reserved.

Invited commentary: genetic variants and individual- and societal-level risk factors.

Science.gov (United States)

Coughlin, Steven S

2010-01-01

Over the past decade, leading epidemiologists have noted the importance of social factors in studying and understanding the distribution and determinants of disease in human populations; but to what extent are epidemiologic studies integrating genetic information and other biologic variables with information about individual-level risk factors and group-level or societal factors related to the broader residential, behavioral, or cultural context? There remains a need to consider ways to integrate genetic information with social and contextual information in epidemiologic studies, partly to combat the overemphasis on the importance of genetic factors as determinants of disease in human populations. Even in genome-wide association studies of coronary heart disease and other common complex diseases, only a small proportion of heritability is explained by the genetic variants identified to date. It is possible that familial clustering due to genetic factors has been overestimated and that important environmental or social influences (acting alone or in combination with genetic variants) have been overlooked. The accompanying article by Bressler et al. (Am J Epidemiol. 2010;171(1):14-23) highlights some of these important issues.

The NHLBI Retrovirus Epidemiology Donor Studies (REDS and REDS-II): Twenty years of research to advance blood product safety and availability

Science.gov (United States)

Kleinman, Steven; King, Melissa R; Busch, Michael P; Murphy, Edward L; Glynn, Simone A.

2012-01-01

The Retrovirus Epidemiology Donor Study (REDS), conducted from 1989–2001, and the Retrovirus Epidemiology Donor Study-II (REDS-II), conducted from 2004–2012, were National Heart Lung and Blood Institute (NHLBI) funded multicenter programs focused on improving blood safety and availability in the United States. REDS-II also included international study sites in Brazil and China. The three major research domains of REDS/REDS-II have been infectious disease risk evaluation, blood donation availability, and blood donor characterization. Both programs have made significant contributions to transfusion medicine research methodology by the use of mathematical modeling, large-scale donor surveys, innovative methods of repository sample storage, and establishing an infrastructure that responded to potential emerging blood safety threats such as XMRV. Blood safety studies have included protocols evaluating epidemiologic and/or laboratory aspects of HIV, HTLV I/II, HCV, HBV, WNV, CMV, HHV-8, B19V, malaria, CJD, influenza, and T. cruzi infections. Other analyses have characterized: blood donor demographics, motivations to donate, factors influencing donor return, behavioral risk factors, donors’ perception of the blood donation screening process, and aspects of donor deferral. In REDS-II, two large-scale blood donor protocols examined iron deficiency in donors and the prevalence of leukocyte antibodies. This review describes the major study results from over 150 peer-reviewed articles published by these two REDS programs. In 2011, a new seven year program, the Recipient Epidemiology and Donor Evaluation Study-III (REDS-III), was launched. REDS-III expands beyond donor-based research to include studies of blood transfusion recipients in the hospital setting, and adds a third country, South Africa, to the international program. PMID:22633182

An Introduction to Thinking about Trustworthy Research into the Genetics of Intelligence.

Science.gov (United States)

Parens, Erik; Appelbaum, Paul S

2015-01-01

The advent of new technologies has rekindled some hopes that it will be possible to identify genetic variants that will help to explain why individuals are different with respect to complex traits. At least one leader in the development of "whole genome sequencing"-the Chinese company BGI-has been quite public about its commitment to using the technique to investigate the genetics of intelligence in general and high intelligence in particular. Because one needs large samples to detect the small effects associated with small genetic differences in the sequence of those base pairs, to make headway with the new sequencing technologies, one also needs to enlist much larger numbers of study participants than geneticists have enrolled before. In an effort to increase the size of a sample, one team of researchers approached the Center for Talented Youth at Johns Hopkins University. They wanted to gain access to records concerning participants in CTY's ongoing Study of Exceptional Talent, and they wanted to approach those individuals to see if they would be willing to share samples of their DNA. We agreed that CTY's dilemma about whether to give the researchers access to those records raised larger questions about the ethics of research into the genetics of intelligence, and we decided to hold a workshop at The Hastings Center that could examine those questions. Our purpose was to create what, borrowing from Sarah Richardson, we came to call a "transformative conversation" about research into the genetics of general cognitive ability-a conversation that would take a wide and long view and would involve a diverse group of stakeholders, including both people who have been highly critical of the research and people who engage in it. This collection of essays, which grew out of that workshop, is intended to provide an introduction to and exploration of this complex and important area. © 2015 The Hastings Center.

Clinical epidemiology in the era of big data: new opportunities, familiar challenges

OpenAIRE

Ehrenstein,Vera; Nielsen,Henrik; Pedersen,Alma B; Johnsen,Søren P; Pedersen,Lars

2017-01-01

Vera Ehrenstein, Henrik Nielsen, Alma B Pedersen, Søren P Johnsen, Lars Pedersen Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus N, Denmark Abstract: Routinely recorded health data have evolved from mere by-products of health care delivery or billing into a powerful research tool for studying and improving patient care through clinical epidemiologic research. Big data in the context of epidemiologic research means large interlinkable data s...

Current knowledge on the genetics of autism and propositions for future research.

Science.gov (United States)

Bourgeron, Thomas

2016-01-01

Autism spectrum disorders (ASD) are a heterogeneous group of neuropsychiatric disorders characterized by problems in social communication, as well as by the presence of restricted interests, stereotyped and repetitive behaviours. In the last 40years, genetic studies have provided crucial information on the causes of ASD and its diversity. In this article, I will first review the current knowledge on the genetics of ASD and then suggest three propositions to foster research in this field. Twin and familial studies estimated the heritability of ASD to be 50%. While most of the inherited part of ASD is captured by common variants, our current knowledge on the genetics of ASD comes almost exclusively from the identification of highly penetrant de novo mutations through candidate gene or whole exome/genome sequencing studies. Approximately 10% of patients with ASD, especially those with intellectual disability, are carriers of de novo copy-number (CNV) or single nucleotide variants (SNV) affecting clinically relevant genes for ASD. Given the function of these genes, it was hypothesized that abnormal synaptic plasticity and failure of neuronal/synaptic homeostasis could increase the risk of ASD. In addition to these discoveries, three propositions coming from institutions, researchers and/or communities of patients and families can be made to foster research on ASD: (i) to use more dimensional and quantitative data than diagnostic categories; (ii) to increase data sharing and research on genetic and brain diversity in human populations; (iii) to involve patients and relatives as participants for research. Hopefully, this knowledge will lead to a better diagnosis, care and integration of individuals with ASD. Copyright © 2016 Académie des sciences. Published by Elsevier SAS. All rights reserved.

The Assessment of Psychopathology and Behavioral Problems in Children: A Review of Scales Suitable for Epidemiological and Clinical Research (1967-1979). Mental Health Service System Reports, Series AN: Epidemiology, No. 1.

Science.gov (United States)

Orvaschel, Helen; And Others

Forty-four scales are described that access psychopathology and/or behavior problems in children (under 18 years of age). Excluded are tests of intelligence, intellectual functioning, brain development, cognitive development, perception, and projective tests. Scales included in this review are suitable for clinical and epidemiological research,…

Local Genetic Correlation Gives Insights into the Shared Genetic Architecture of Complex Traits.

Science.gov (United States)

Shi, Huwenbo; Mancuso, Nicholas; Spendlove, Sarah; Pasaniuc, Bogdan

2017-11-02

Although genetic correlations between complex traits provide valuable insights into epidemiological and etiological studies, a precise quantification of which genomic regions disproportionately contribute to the genome-wide correlation is currently lacking. Here, we introduce ρ-HESS, a technique to quantify the correlation between pairs of traits due to genetic variation at a small region in the genome. Our approach requires GWAS summary data only and makes no distributional assumption on the causal variant effect sizes while accounting for linkage disequilibrium (LD) and overlapping GWAS samples. We analyzed large-scale GWAS summary data across 36 quantitative traits, and identified 25 genomic regions that contribute significantly to the genetic correlation among these traits. Notably, we find 6 genomic regions that contribute to the genetic correlation of 10 pairs of traits that show negligible genome-wide correlation, further showcasing the power of local genetic correlation analyses. Finally, we report the distribution of local genetic correlations across the genome for 55 pairs of traits that show putative causal relationships. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

A genetic-epidemiologic study of Alzheimer’s disease

NARCIS (Netherlands)

A. Arias-Vásquez (Alejandro)

2006-01-01

textabstractAlzheimer's disease (AD) is the most frequent cause of dementia and thus is a major public-health problem. Age and genetic predisposition to the disease are the most important risk factors. In 2001 more than 24 million people in the western world had dementia. This number is expected to

Cultural epidemiology: An introduction and overview

OpenAIRE

Weiss, Mitchell Gralnick

2001-01-01

Although the value of interdisciplinary collaboration between epidemiology and anthropology is both widely acknowledged and hotly contested, effective international health policy and multicultural health programmes require it. The EMIC framework for cultural studies of illness was developed in response to such needs, and a cultural epidemiology emerged from that framework as an interdisciplinary field of research on locally valid representations of illness and their distributions in cultural ...

Investigation of genetic diversity and epidemiological characteristics of Pasteurella multocida isolates from poultry in southwest China by population structure, multi-locus sequence typing and virulence-associated gene profile analysis.

Science.gov (United States)

Li, Zhangcheng; Cheng, Fangjun; Lan, Shimei; Guo, Jianhua; Liu, Wei; Li, Xiaoyan; Luo, Zeli; Zhang, Manli; Wu, Juan; Shi, Yang

2018-04-25

Fowl cholera caused by Pasteurella multocida has always been a disease of global importance for poultry production. The aim of this study was to obtain more information about the epidemiology of avian P. multocida infection in southwest China and the genetic characteristics of clinical isolates. P. multocida isolates were characterized by biochemical and molecular-biological methods. The distributions of the capsular serogroups, the phenotypic antimicrobial resistance profiles, lipopolysaccharide (LPS) genotyping and the presence of 19 virulence genes were investigated in 45 isolates of P. multocida that were associated with clinical disease in poultry. The genetic diversity of P. multocida strains was performed by 16S rRNA and rpoB gene sequence analysis as well as multilocus sequence typing (MLST). The results showed that most (80.0%) of the P. multocida isolates in this study represented special P. multocida subspecies, and 71.1% of the isolates showed multiple-drug resistance. 45 isolates belonged to capsular types: A (100%) and two LPS genotypes: L1 (95.6%) and L3 (4.4%). MLST revealed two new alleles (pmi77 and gdh57) and one new sequence type (ST342). ST129 types dominated in 45 P. multocida isolates. Isolates belonging to ST129 were with the genes ompH+plpB+ptfA+tonB, whereas ST342 included isolates with fur+hgbA+tonB genes. Population genetic analysis and the MLST results revealed that at least one new ST genotype was present in the avian P. multocida in China. These findings provide novel insights into the epidemiological characteristics of avian P. multocida isolates in southwest China.

Provenance research: investigation of genetic diversity associated with geography

Science.gov (United States)

Robert Z. Callaham

1963-01-01

Provenance in forestry refers to the population of trees growing at n particular place of origin. Provenance research defines the genetic and environmental components of phenotypic variation associated with geographic source. Information on provenance is important in assuring sources of seed to give well-adapted, productive trees and in directing breeding of...

Global epidemiology of hyperthyroidism and hypothyroidism.

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Taylor, Peter N; Albrecht, Diana; Scholz, Anna; Gutierrez-Buey, Gala; Lazarus, John H; Dayan, Colin M; Okosieme, Onyebuchi E

2018-05-01

Thyroid hormones are essential for growth, neuronal development, reproduction and regulation of energy metabolism. Hypothyroidism and hyperthyroidism are common conditions with potentially devastating health consequences that affect all populations worldwide. Iodine nutrition is a key determinant of thyroid disease risk; however, other factors, such as ageing, smoking status, genetic susceptibility, ethnicity, endocrine disruptors and the advent of novel therapeutics, including immune checkpoint inhibitors, also influence thyroid disease epidemiology. In the developed world, the prevalence of undiagnosed thyroid disease is likely falling owing to widespread thyroid function testing and relatively low thresholds for treatment initiation. However, continued vigilance against iodine deficiency remains essential in developed countries, particularly in Europe. In this report, we review the global incidence and prevalence of hyperthyroidism and hypothyroidism, highlighting geographical differences and the effect of environmental factors, such as iodine supplementation, on these data. We also highlight the pressing need for detailed epidemiological surveys of thyroid dysfunction and iodine status in developing countries.

Concerted Uranium Research in Europe (CURE): toward a collaborative project integrating dosimetry, epidemiology and radiobiology to study the effects of occupational uranium exposure.

Science.gov (United States)

Laurent, Olivier; Gomolka, Maria; Haylock, Richard; Blanchardon, Eric; Giussani, Augusto; Atkinson, Will; Baatout, Sarah; Bingham, Derek; Cardis, Elisabeth; Hall, Janet; Tomasek, Ladislav; Ancelet, Sophie; Badie, Christophe; Bethel, Gary; Bertho, Jean-Marc; Bouet, Ségolène; Bull, Richard; Challeton-de Vathaire, Cécile; Cockerill, Rupert; Davesne, Estelle; Ebrahimian, Teni; Engels, Hilde; Gillies, Michael; Grellier, James; Grison, Stephane; Gueguen, Yann; Hornhardt, Sabine; Ibanez, Chrystelle; Kabacik, Sylwia; Kotik, Lukas; Kreuzer, Michaela; Lebacq, Anne Laure; Marsh, James; Nosske, Dietmar; O'Hagan, Jackie; Pernot, Eileen; Puncher, Matthew; Rage, Estelle; Riddell, Tony; Roy, Laurence; Samson, Eric; Souidi, Maamar; Turner, Michelle C; Zhivin, Sergey; Laurier, Dominique

2016-06-01

The potential health impacts of chronic exposures to uranium, as they occur in occupational settings, are not well characterized. Most epidemiological studies have been limited by small sample sizes, and a lack of harmonization of methods used to quantify radiation doses resulting from uranium exposure. Experimental studies have shown that uranium has biological effects, but their implications for human health are not clear. New studies that would combine the strengths of large, well-designed epidemiological datasets with those of state-of-the-art biological methods would help improve the characterization of the biological and health effects of occupational uranium exposure. The aim of the European Commission concerted action CURE (Concerted Uranium Research in Europe) was to develop protocols for such a future collaborative research project, in which dosimetry, epidemiology and biology would be integrated to better characterize the effects of occupational uranium exposure. These protocols were developed from existing European cohorts of workers exposed to uranium together with expertise in epidemiology, biology and dosimetry of CURE partner institutions. The preparatory work of CURE should allow a large scale collaborative project to be launched, in order to better characterize the effects of uranium exposure and more generally of alpha particles and low doses of ionizing radiation.

Some aspects of cancer epidemiology

International Nuclear Information System (INIS)

Lilienfeld, A.M.

1982-01-01

Epidemiolgic studies have strongly suggested that a vast majority (80-90%) of cancers are caused by radiation, chemical and biologic agents; the remainder result from endogenous or genetic factors. Biologically, cancer is most probably the end result of a complex multistage process and therefore may be due to a sequence of exposures to different agents at each of these stages. This emphasizes the need to stress the study of interactions in epidemiologic studies to a greater extent than has been done thus far. Examples of the importance of interactions in several types of cancer are presented

HIV-TRACE (Transmission Cluster Engine): a tool for large scale molecular epidemiology of HIV-1 and other rapidly evolving pathogens.

Science.gov (United States)

Kosakovsky Pond, Sergei L; Weaver, Steven; Leigh Brown, Andrew J; Wertheim, Joel O

2018-01-31

In modern applications of molecular epidemiology, genetic sequence data are routinely used to identify clusters of transmission in rapidly evolving pathogens, most notably HIV-1. Traditional 'shoeleather' epidemiology infers transmission clusters by tracing chains of partners sharing epidemiological connections (e.g., sexual contact). Here, we present a computational tool for identifying a molecular transmission analog of such clusters: HIV-TRACE (TRAnsmission Cluster Engine). HIV-TRACE implements an approach inspired by traditional epidemiology, by identifying chains of partners whose viral genetic relatedness imply direct or indirect epidemiological connections. Molecular transmission clusters are constructed using codon-aware pairwise alignment to a reference sequence followed by pairwise genetic distance estimation among all sequences. This approach is computationally tractable and is capable of identifying HIV-1 transmission clusters in large surveillance databases comprising tens or hundreds of thousands of sequences in near real time, i.e., on the order of minutes to hours. HIV-TRACE is available at www.hivtrace.org and from github.com/veg/hivtrace, along with the accompanying result visualization module from github.com/veg/hivtrace-viz. Importantly, the approach underlying HIV-TRACE is not limited to the study of HIV-1 and can be applied to study outbreaks and epidemics of other rapidly evolving pathogens. © The Author 2018. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Genetic effects of radiation in atomic-bomb survivors and their children. Past, present and future

International Nuclear Information System (INIS)

Nakamura, Nori

2006-01-01

Genetic studies in the offspring of atomic bomb survivors have been conducted since 1948 at the Atomic Bomb Casualty Commission and its successor, the Radiation Effects Research Foundation, in Hiroshima and Nagasaki. Past studies include analysis of birth defects (untoward pregnancy outcome; namely, malformation, stillbirth, and perinatal death), chromosome aberrations, alterations of plasma and erythrocyte proteins as well as epidemiologic study on mortality (any cause) and cancer incidence (the latter study is still ongoing). There is, thus far, no indication of genetic effects in the offspring of survivors. Recently, the development of molecular biological techniques and human genome sequence databases made it possible to analyze DNA from parents and their offspring (trio-analysis). In addition, a clinical program is underway to establish the frequency of adult-onset multi-factorial diseases (diabetes mellitus, high blood pressure, and cardiovascular disease etc) in the offspring. The complementary kinds of data that will emerge from this three-pronged approach (clinical, epidemiologic, and molecular aspects) promise to shed light on health effects in the offspring of radiation-exposed people. (author)

Molecular epidemiology of Plum pox virus in Japan.

Science.gov (United States)

Maejima, Kensaku; Himeno, Misako; Komatsu, Ken; Takinami, Yusuke; Hashimoto, Masayoshi; Takahashi, Shuichiro; Yamaji, Yasuyuki; Oshima, Kenro; Namba, Shigetou

2011-05-01

For a molecular epidemiological study based on complete genome sequences, 37 Plum pox virus (PPV) isolates were collected from the Kanto region in Japan. Pair-wise analyses revealed that all 37 Japanese isolates belong to the PPV-D strain, with low genetic diversity (less than 0.8%). In phylogenetic analysis of the PPV-D strain based on complete nucleotide sequences, the relationships of the PPV-D strain were reconstructed with high resolution: at the global level, the American, Canadian, and Japanese isolates formed their own distinct monophyletic clusters, suggesting that the routes of viral entry into these countries were independent; at the local level, the actual transmission histories of PPV were precisely reconstructed with high bootstrap support. This is the first description of the molecular epidemiology of PPV based on complete genome sequences.

Estimates of genetic parameters, genetic trends, and inbreeding in a crossbred dairy sheep research flock in the United States.

Science.gov (United States)

Murphy, T W; Berger, Y M; Holman, P W; Baldin, M; Burgett, R L; Thomas, D L

2017-10-01

For the past 2 decades, the Spooner Agriculture Research Station (ARS) of the University of Wisconsin-Madison operated the only dairy sheep research flock in North America. The objectives of the present study were to 1) obtain estimates of genetic parameters for lactation and reproductive traits in dairy ewes, 2) estimate the amount of genetic change in these traits over time, and 3) quantify the level of inbreeding in this flock over the last 20 yr. Multiple-trait repeatability models (MTRM) were used to analyze ewe traits through their first 6 parities. The first MTRM jointly analyzed milk (180-d-adjusted milk yield [180d MY]), fat (180-d-adjusted fat yield [180d FY]), and protein (180-d-adjusted protein yield [180d PY]) yields adjusted to 180 d of lactation; number of lambs born per ewe lambing (NLB); and lactation average test-day somatic cell score (LSCS). A second MTRM analyzed 180d MY, NLB, LSCS, and percentage milk fat (%F) and percentage milk protein (%P). The 3 yield traits were moderately heritable (0.26 to 0.32) and strongly genetically correlated (0.91 to 0.96). Percentage milk fat and %P were highly heritable (0.53 and 0.61, respectively) and moderately genetically correlated (0.61). Milk yield adjusted to 180 d was negatively genetically correlated with %F and %P (-0.31 and -0.34, respectively). Ewe prolificacy was not significantly ( > 0.67) genetically correlated with yield traits, %P, or LSCS but lowly negatively correlated with %F (-0.26). Lactation somatic cell score was unfavorably genetically correlated with yield traits (0.28 to 0.39) but not significantly ( > 0.09) correlated with %F, %P, and NLB. Within-trait multiple-trait models through the first 4 parities revealed that 180d MY, 180d FY, 180d PY, %F, and %P were strongly genetically correlated across parity (0.67 to 1.00). However, the genetic correlations across parity for NLB and LSCS were somewhat lower (0.51 to 0.96). Regressing predicted breeding values for 180d MY, without and with

Genetics and caries: prospects

Directory of Open Access Journals (Sweden)

Alexandre Rezende Vieira

2012-01-01

Full Text Available Caries remains the most prevalent non-contagious infectious disease in humans. It is clear that the current approaches to decrease the prevalence of caries in human populations, including water fluoridation and school-based programs, are not enough to protect everyone. The scientific community has suggested the need for innovative work in a number of areas in cariology, encompassing disease etiology, epidemiology, definition, prevention, and treatment. We have pioneered the work on genetic studies to identify genes and genetic markers of diagnostic, prognostic, and therapeutic value. This paper summarizes a presentation that elaborated on these initial findings.

Radon epidemiology: A guide to the literature

International Nuclear Information System (INIS)

Marks, S.

1988-12-01

This document was written as a comprehensive overview of the voluminous literature on both uranium miner and residential radon epidemiology studies. This document provides the reader with a fairly complete list of radon epidemiology publications and key features of each, so that readers may further pursue only those publications of interest in the vast body of radon literature. A companion document, exploring all on-going residential radon epidemiology studies will be published by the Office of Health and Environmental Research (OHER), the Department of Energy (DOE) in the spring of 1989

Progress and Prospects in Human Genetic Research into Age-Related Hearing Impairment

Directory of Open Access Journals (Sweden)

Yasue Uchida

2014-01-01

Full Text Available Age-related hearing impairment (ARHI is a complex, multifactorial disorder that is attributable to confounding intrinsic and extrinsic factors. The degree of impairment shows substantial variation between individuals, as is also observed in the senescence of other functions. This individual variation would seem to refute the stereotypical view that hearing deterioration with age is inevitable and may indicate that there is ample scope for preventive intervention. Genetic predisposition could account for a sizable proportion of interindividual variation. Over the past decade or so, tremendous progress has been made through research into the genetics of various forms of hearing impairment, including ARHI and our knowledge of the complex mechanisms of auditory function has increased substantially. Here, we give an overview of recent investigations aimed at identifying the genetic risk factors involved in ARHI and of what we currently know about its pathophysiology. This review is divided into the following sections: (i genes causing monogenic hearing impairment with phenotypic similarities to ARHI; (ii genes involved in oxidative stress, biologic stress responses, and mitochondrial dysfunction; and (iii candidate genes for senescence, other geriatric diseases, and neurodegeneration. Progress and prospects in genetic research are discussed.

The epidemiology of endometriosis.

Science.gov (United States)

Cramer, Daniel W; Missmer, Stacey A

2002-03-01

Advances in understanding the epidemiology of endometriosis have lagged behind other diseases because of methodologic problems related to disease definition and control selection. Nevertheless, a better picture of the epidemiology of endometriosis has emerged over the past few decades. Prevalence estimates of the disease in clinic populations vary from about a 4% occurrence of largely asymptomatic endometriosis found in women undergoing tubal ligation to 50% of teenagers with intractable dysmenorrhea. General population incidence during the 1970s in this country has been suggested to be 1.6 per 1000 white females aged 15-49, while a more current study based upon hospital discharges finds endometriosis as a first listed diagnosis in 1.3 per 1000 discharges in women aged 15-44. There is a clinical impression that blacks have lower rates of endometriosis and Orientals have higher rates than whites. A variety of personal risk factors for endometriosis have also been described. Women with endometriosis may be taller and thinner. Menstrual factors reported to increase risk include dysmenorrhea, early menarche, and shorter cycle lengths. There is support for the idea that lifestyle exposures that might raise or lower estrogen levels could affect risk, including a decreased risk associated with smoking and exercise and an increased risk associated with caffeine or alcohol use. These risk factors appear to be compatible with the central importance of retrograde menstruation influenced by outflow obstruction that might affect its amount, immune factors that might affect its ability to be cleared, or hormonal stimuli that might affect its growth. In this model, dysmenorrhea could be either a disease symptom or a manifestation of outflow obstruction. Nulliparity could be either a consequence of disease or a cause since nulliparous women would not have the benefit of cervical dilation associated with labor and delivery. Since there is evidence that family history is a risk

Molecular Epidemiology of Yellow Fever in Bolivia from 1999 to 2008

Science.gov (United States)

Baronti, Cécile; Goitia, Norma Janeth Velasquez; Cook, Shelley; Roca, Yelin; Revollo, Jimmy; Flores, Jorge Vargas

2011-01-01

Abstract Yellow fever (YF) is a serious public health problem in Bolivia since at least the 19th century. Surprisingly, very limited information has been made available to date regarding the genetic characterisation and epidemiology of Bolivian YF virus (YFV) strains. Here, we conducted the genetic characterization of 12 human isolates of YFV collected in Bolivia between 1999 and 2008, by sequencing and analysis of two regions of the viral genome: a fragment encoding structural proteins “PrM” (premembrane and envelope) and a distal region “EMF,” spanning the end of the virus genome. Our study reveals a high genetic diversity of YFV strains circulating in Bolivia during the last decade: we identified not only “Peruvian-like” genotype II viruses (related to previously characterized Bolivian strains), but also, for the fist time, “Brazilian-like” genotype I viruses. During the complete period of the study, only cases of “jungle” YF were detected (i.e., circulation of YFV via a sylvatic cycle) with no cluster of urban cases. However, the very significant spread of the Aedes aegypti mosquito across Bolivian cities threatens the country with the reappearance of an urban YFV transmission cycle and thus is required a sustained epidemiological surveillance. PMID:20925524

Identifying genetic variants that affect viability in large cohorts.

Directory of Open Access Journals (Sweden)

Hakhamanesh Mostafavi

2017-09-01

Full Text Available A number of open questions in human evolutionary genetics would become tractable if we were able to directly measure evolutionary fitness. As a step towards this goal, we developed a method to examine whether individual genetic variants, or sets of genetic variants, currently influence viability. The approach consists in testing whether the frequency of an allele varies across ages, accounting for variation in ancestry. We applied it to the Genetic Epidemiology Research on Adult Health and Aging (GERA cohort and to the parents of participants in the UK Biobank. Across the genome, we found only a few common variants with large effects on age-specific mortality: tagging the APOE ε4 allele and near CHRNA3. These results suggest that when large, even late-onset effects are kept at low frequency by purifying selection. Testing viability effects of sets of genetic variants that jointly influence 1 of 42 traits, we detected a number of strong signals. In participants of the UK Biobank of British ancestry, we found that variants that delay puberty timing are associated with a longer parental life span (P~6.2 × 10-6 for fathers and P~2.0 × 10-3 for mothers, consistent with epidemiological studies. Similarly, variants associated with later age at first birth are associated with a longer maternal life span (P~1.4 × 10-3. Signals are also observed for variants influencing cholesterol levels, risk of coronary artery disease (CAD, body mass index, as well as risk of asthma. These signals exhibit consistent effects in the GERA cohort and among participants of the UK Biobank of non-British ancestry. We also found marked differences between males and females, most notably at the CHRNA3 locus, and variants associated with risk of CAD and cholesterol levels. Beyond our findings, the analysis serves as a proof of principle for how upcoming biomedical data sets can be used to learn about selection effects in contemporary humans.

Risks assessment - role of pre-existing genetic variation

International Nuclear Information System (INIS)

Unrau, P.; Doerffer, K.

1996-01-01

Previously published research on the epidemiology and molecular basis of genetic or congenital diseases and their occurrence in certain 'ethnic' or isolated populations is discussed to show the significance of consanguinity and 'ethnicity' as contributing factors. A statistical study aiming to correlate malformations with absolutely any environmental factor may miss the significance of defects in a gene pool. This consideration has an obvious significance for the nuclear industry. For example, carriers of Fanconi's anemia appear to have an increased tendency to develop acute myelogenous leukemia. The authors indicate the difficulty in finding a definite molecular basis even for simple Mendelian monogenic disorders such as Tay-Sachs disease. 12 refs., 4 tabs

Molecular epidemiology of Corynebacterium pseudotuberculosis isolated from horses in California.

Science.gov (United States)

Haas, Dionei J; Dorneles, Elaine M S; Spier, Sharon J; Carroll, Scott P; Edman, Judy; Azevedo, Vasco A; Heinemann, Marcos B; Lage, Andrey P

2017-04-01

Corynebacterium pseudotuberculosis biovar Equi is an important pathogen of horses. It is increasing in frequency in the United States, and is responsible for various clinical forms of infection, including external abscesses, internal abscesses of the abdominal or thoracic cavities, and ulcerative lymphangitis. The host/pathogen factors dictating the form or severity of infection are currently unknown. Our recent investigations have shown that genotyping C. pseudotuberculosis isolates using enterobacterial repetitive intergenic consensus (ERIC)-PCR is useful for understanding the evolutionary genetics of the species as well for molecular epidemiology studies. The aims of the present study were to assess (i) the genetic diversity of C. pseudotuberculosis strains isolated from horses in California, United States and (ii) the epidemiologic relationships among isolates. One hundred and seven C. pseudotuberculosis biovar Equi isolates from ninety-five horses, and two C. pseudotuberculosis biovar Ovis strains, C. pseudotuberculosis ATCC 19410 T type strain and C. pseudotuberculosis 1002 vaccine strain, were fingerprinted using the ERIC 1+2-PCR. C. pseudotuberculosis isolated from horses showed a high genetic diversity, clustering in twenty-seven genotypes with a diversity index of 0.91. Minimal spanning tree showed four major clonal complexes with a pattern of temporal clustering. Strains isolated from the same horse showed identical ERIC 1+2-PCR genotype, with the exception of two strains isolated from the same animal that showed distinct genotypes, suggesting a co-infection. We found no strong genetic signals related to clinical form (including internal versus external infections). However, temporal clustering of genotypes was observed. Copyright © 2016. Published by Elsevier B.V.

MARKETING RESEARCH OF ATTITUDES TOWARDS GENETICALLY MODIFIED CROPS BY GEORGIAN FARMERS

Directory of Open Access Journals (Sweden)

NUGZAR TODUA

2017-02-01

Full Text Available Although, genetically modified (GM crops have to be a broadly debated topic in different countries, there has been much less attention devoted to farmer attitudes towards GM crops. This paper attempts to research farmers’ insights on GM crops in Georgia through February-March 2014. An in-depth survey of 611 farmers revealed that respondents lack sufficient knowledge about genetic engineering. They tend to have a negative attitude towards GM crops and are strongly against of import and adoption of GM seeds. An empirical examination based on analysis of variance and Pearson’s correlation coefficient verified that both education and age were significant determinants of awareness of farmers about genetically engineered crops, while income used to have no significant influence on the farmers’ decision to adopt GM crops. In addition, relationship between awareness about genetic engineering and farmers’ decision to adopt GM crops has to be insignificant, as well.

Psoriasis: epidemiology, natural history, and differential diagnosis

Directory of Open Access Journals (Sweden)

Basko-Plluska JL

2012-09-01

Full Text Available Juliana L Basko-Plluska, Vesna Petronic-RosicDepartment of Medicine, Section of Dermatology, University of Chicago, Chicago, IL, USAAbstract: Psoriasis is a chronic, immune-mediated, inflammatory disease which affects primarily the skin and joints. It occurs worldwide, but its prevalence varies considerably between different regions of the world. Genetic susceptibility as well as environmental factors play an important role in determining the development and prognosis of psoriasis. Genome-wide association studies have identified many genetic loci as potential psoriasis susceptibility regions, including PSORS1 through PSORS7. Histocompatibility antigen (HLA studies have also identified several HLA antigens, with HLA-Cw6 being the most frequently associated antigen. Epidemiological studies identified several modifiable risk factors that may predispose individuals to developing psoriasis or exacerbate pre-existing disease. These include smoking, obesity, alcohol consumption, diet, infections, medications and stressful life events. The exact mechanism by which they trigger psoriasis remains to be elucidated; however, existing data suggest that they are linked through Th1-mediated immunological pathways. The natural history of psoriasis varies depending on the clinical subtype as well as special circumstances, including pregnancy and HIV infection. In general, psoriasis is a chronic disease with intermittent remissions and exacerbations. The differential diagnosis is vast and includes many other immune-mediated, inflammatory disorders.Keywords: psoriasis, epidemiology, natural history, differential diagnosis

Ethical issues in identifying and recruiting participants for familial genetic research.

Science.gov (United States)

Beskow, Laura M; Botkin, Jeffrey R; Daly, Mary; Juengst, Eric T; Lehmann, Lisa Soleymani; Merz, Jon F; Pentz, Rebecca; Press, Nancy A; Ross, Lainie Friedman; Sugarman, Jeremy; Susswein, Lisa R; Terry, Sharon F; Austin, Melissa A; Burke, Wylie

2004-11-01

Family-based research is essential to understanding the genetic and environmental etiology of human disease. The success of family-based research often depends on investigators' ability to identify, recruit, and achieve a high participation rate among eligible family members. However, recruitment of family members raises ethical concerns due to the tension between protecting participants' privacy and promoting research quality, and guidelines for these activities are not well established. The Cancer Genetics Network Bioethics Committee assembled a multidisciplinary group to explore the scientific and ethical issues that arise in the process of family-based recruitment. The group used a literature review as well as expert opinion to develop recommendations about appropriate approaches to identifying, contacting, and recruiting family members. We conclude that there is no single correct approach, but recommend a balanced approach that takes into account the nature of the particular study as well as its recruitment goals. Recruitment of family members should be viewed as part of the research protocol and should require appropriate informed consent of the already-enrolled participant. Investigators should inform prospective participants why they are being contacted, how information about them was obtained, and what will happen to that information if they decide not to participate. The recruitment process should also be sensitive to the fact that some individuals from families at increased genetic risk will have no prior knowledge of their risk status. These recommendations are put forward to promote further discussion about the advantages and disadvantages of various approaches to family-based recruitment. They suggest a framework for considering alternative recruitment strategies and their implications, as well as highlight areas in need of further empirical research. (c) 2004 Wiley-Liss, Inc.

Size matters: the ethical, legal, and social issues surrounding large-scale genetic biobank initiatives

Directory of Open Access Journals (Sweden)

Klaus Lindgaard Hoeyer

2012-04-01

Full Text Available During the past ten years the complex ethical, legal and social issues (ELSI typically surrounding large-scale genetic biobank research initiatives have been intensely debated in academic circles. In many ways genetic epidemiology has undergone a set of changes resembling what in physics has been called a transition into Big Science. This article outlines consequences of this transition and suggests that the change in scale implies challenges to the roles of scientists and public alike. An overview of key issues is presented, and it is argued that biobanks represent not just scientific endeavors with purely epistemic objectives, but also political projects with social implications. As such, they demand clever maneuvering among social interests to succeed.

Epidemiology, Etiology, and Treatment of Isolated Cleft Palate

Science.gov (United States)

Burg, Madeleine L.; Chai, Yang; Yao, Caroline A.; Magee, William; Figueiredo, Jane C.

2016-01-01

Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher in females compared to males. Approximately fifty percent of cases born with cleft palate occur as part of a known genetic syndrome or with another malformation (e.g., congenital heart defects) and the other half occur as solitary defects, referred to often as non-syndromic clefts. The etiology of CPO is multifactorial involving genetic and environmental risk factors. Several animal models have yielded insight into the molecular pathways responsible for proper closure of the palate, including the BMP, TGF-β, and SHH signaling pathways. In terms of environmental exposures, only maternal tobacco smoke has been found to be strongly associated with CPO. Some studies have suggested that maternal glucocorticoid exposure may also be important. Clearly, there is a need for larger epidemiologic studies to further investigate both genetic and environmental risk factors and gene-environment interactions. In terms of treatment, there is a need for long-term comprehensive care including surgical, dental and speech pathology. Overall, five main themes emerge as critical in advancing research: (1) monitoring of the occurrence of CPO (capacity building); (2) detailed phenotyping of the severity (biology); (3) understanding of the genetic and environmental risk factors (primary prevention); (4) access to early detection and multidisciplinary treatment (clinical services); and (5) understanding predictors of recurrence and possible interventions among families with a child with CPO (secondary prevention). PMID:26973535

Design and Implementation of the International Genetics and Translational Research in Transplantation Network.

Science.gov (United States)

2015-11-01

Genetic association studies of transplantation outcomes have been hampered by small samples and highly complex multifactorial phenotypes, hindering investigations of the genetic architecture of a range of comorbidities which significantly impact graft and recipient life expectancy. We describe here the rationale and design of the International Genetics & Translational Research in Transplantation Network. The network comprises 22 studies to date, including 16494 transplant recipients and 11669 donors, of whom more than 5000 are of non-European ancestry, all of whom have existing genomewide genotype data sets. We describe the rich genetic and phenotypic information available in this consortium comprising heart, kidney, liver, and lung transplant cohorts. We demonstrate significant power in International Genetics & Translational Research in Transplantation Network to detect main effect association signals across regions such as the MHC region as well as genomewide for transplant outcomes that span all solid organs, such as graft survival, acute rejection, new onset of diabetes after transplantation, and for delayed graft function in kidney only. This consortium is designed and statistically powered to deliver pioneering insights into the genetic architecture of transplant-related outcomes across a range of different solid-organ transplant studies. The study design allows a spectrum of analyses to be performed including recipient-only analyses, donor-recipient HLA mismatches with focus on loss-of-function variants and nonsynonymous single nucleotide polymorphisms.

Molecular epidemiology of human rhinoviruses

OpenAIRE

Savolainen-Kopra, Carita

2006-01-01

The first part of this work investigates the molecular epidemiology of a human enterovirus (HEV), echovirus 30 (E-30). This project is part of a series of studies performed in our research team analyzing the molecular epidemiology of HEV-B viruses. A total of 129 virus strains had been isolated in different parts of Europe. The sequence analysis was performed in three different genomic regions: 420 nucleotides (nt) in the VP4/VP2 capsid protein coding region, the entire VP1 capsid protein cod...

Population health and status of epidemiology in Western European, Balkan and Baltic countries.

Science.gov (United States)

Seniori Costantini, Adele; Gallo, Federica; Pega, Frank; Saracci, Rodolfo; Veerus, Piret; West, Robert

2015-02-01

This article is part of a series commissioned by the International Epidemiological Association, aimed at describing population health and epidemiological resources in the six World Health Organization (WHO) regions. It covers 32 of the 53 WHO European countries, namely the Western European countries, the Balkan countries and the Baltic countries. The burdens of mortality and morbidity and the patterns of risk factors and inequalities have been reviewed in order to identify health priorities and challenges. Literature and internet searches were conducted to stock-take epidemiological teaching, research activities, funding and scientific productivity. These countries have among the highest life expectancies worldwide. However, within- and between-country inequalities persist, which are largely due to inequalities in distribution of main health determinants. There is a long tradition of epidemiological research and teaching in most countries, in particular in the Western European countries. Cross-national networks and collaborations are increasing through the support of the European Union which fosters procedures to standardize educational systems across Europe and provides funding for epidemiological research through framework programmes. The number of Medline-indexed epidemiological research publications per year led by Western European countries has been increasing. The countries accounts for nearly a third of the global epidemiological publication. Although population health has improved considerably overall, persistent within- and between-country inequalities continue to challenge national and European health institutions. More research, policy and action on the social determinants of health are required in the region. Epidemiological training, research and workforce in the Baltic and Balkan countries should be strengthened. European epidemiologists can play pivotal roles and must influence legislation concerning production and access to high-quality data. © The

Metabolomics and Epidemiology Working Group

Science.gov (United States)

The Metabolomics and Epidemiology (MetEpi) Working Group promotes metabolomics analyses in population-based studies, as well as advancement in the field of metabolomics for broader biomedical and public health research.

Monkey-based research on human disease: the implications of genetic differences.

Science.gov (United States)

Bailey, Jarrod

2014-11-01

Assertions that the use of monkeys to investigate human diseases is valid scientifically are frequently based on a reported 90-93% genetic similarity between the species. Critical analyses of the relevance of monkey studies to human biology, however, indicate that this genetic similarity does not result in sufficient physiological similarity for monkeys to constitute good models for research, and that monkey data do not translate well to progress in clinical practice for humans. Salient examples include the failure of new drugs in clinical trials, the highly different infectivity and pathology of SIV/HIV, and poor extrapolation of research on Alzheimer's disease, Parkinson's disease and stroke. The major molecular differences underlying these inter-species phenotypic disparities have been revealed by comparative genomics and molecular biology - there are key differences in all aspects of gene expression and protein function, from chromosome and chromatin structure to post-translational modification. The collective effects of these differences are striking, extensive and widespread, and they show that the superficial similarity between human and monkey genetic sequences is of little benefit for biomedical research. The extrapolation of biomedical data from monkeys to humans is therefore highly unreliable, and the use of monkeys must be considered of questionable value, particularly given the breadth and potential of alternative methods of enquiry that are currently available to scientists. 2014 FRAME.

Importance and pitfalls of molecular analysis to parasite epidemiology.

Science.gov (United States)

Constantine, Clare C

2003-08-01

Molecular tools are increasingly being used to address questions about parasite epidemiology. Parasites represent a diverse group and they might not fit traditional population genetic models. Testing hypotheses depends equally on correct sampling, appropriate tool and/or marker choice, appropriate analysis and careful interpretation. All methods of analysis make assumptions which, if violated, make the results invalid. Some guidelines to avoid common pitfalls are offered here.

Radiation carcinogenesis: Epidemiology and biological significance

International Nuclear Information System (INIS)

Boice, J.D.; Fraumeni, J.F.

1984-01-01

Epidemiologic studies of populations exposed to radiation have led to the identification of a preventable cause of cancer, but in the long run perhaps the most important contribution of radiation studies will be to provide insights into the basic processes of human carcinogenesis. In this volume, key investigators of major epidemiologic projects summarize their observations to date, including information to help assess the effects of low-level exposures. Experimentalists and theorists emphasize the relevance of laboratory and epidemiologic data in elucidating carcinogenic risks and mechanisms in man. This volume was prepared with several objectives in mind: (a) organize and synthesize knowledge on radiation carcinogenesis through epidemiologic and experimental approaches; (b) illustrate and explore ways of utilizing this information to gain insights into the fundamental mechanisms of cancer development; (c) stimulate the formation of hypotheses suited to experimental or epidemiologic testing, theoretical modeling, and multidisciplinary approaches; and (d) identify recent advances that clarify dose-response relationships and the influence of low-dose exposures, provide leads to carcinogenic mechanisms and host-environmental interactions, and suggest strategies for future research and preventive action

Ethics of genetic testing and research in sport: a position statement from the Australian Institute of Sport

Science.gov (United States)

Vlahovich, Nicole; Fricker, Peter A; Brown, Matthew A; Hughes, David

2017-01-01

As Australia's peak high-performance sport agency, the Australian Institute of Sport (AIS) has developed this position statement to address the implications of recent advances in the field of genetics and the ramifications for the health and well-being of athletes. Genetic testing has proven of value in the practice of clinical medicine. There are, however, currently no scientific grounds for the use of genetic testing for athletic performance improvement, sport selection or talent identification. Athletes and coaches should be discouraged from using direct-to-consumer genetic testing because of its lack of validation and replicability and the lack of involvement of a medical practitioner in the process. The transfer of genetic material or genetic modification of cells for performance enhancement is gene doping and should not be used on athletes. There are, however, valid roles for genetic research and the AIS supports genetic research which aims to enhance understanding of athlete susceptibility to injury or illness. Genetic research is only to be conducted after careful consideration of a range of ethical concerns which include the provision of adequate informed consent. The AIS is committed to providing leadership in delivering an ethical framework that protects the well-being of athletes and the integrity of sport, in the rapidly changing world of genomic science. PMID:27899345

Epidemiology & social costs of haemophilia in India

Directory of Open Access Journals (Sweden)

Anita Kar

2014-01-01

Full Text Available India lacks a national policy on the prevention and control of genetic disorders. Although the haemoglobinopathies have received some attention, there are scarce data on the epidemiology of other genetic disorders in India. Haemophilia, an inherited single gene disorder with an incidence of 1 per 10,000 births, manifests as spontaneous or trauma-induced haemorrhagic episodes in patients, progressing to chronic disability and premature mortality in untreated patients or patients with sub-optimal treatment. Although the genetic basis of this disorder has been well studied in India, data on the number of patients, trends of the disorder in India, social costs of the condition and opportunities and competencies for offering genetic counselling through a public health programme have not been reported. This review article summarizes the available Indian data, which show that the country harbours the second highest number of global patients with haemophilia A. The reported number of patients with haemophilia A is 11,586 while the estimated prevalence could be around 50,000 patients. This review also identifies the need to immediately initiate a national programme for haemophilia, with components of prevention, care for patients, surveillance and education and support for families.

Knowledge sharing in infection prevention in routine and outbreak situations: a survey of the Society for Healthcare Epidemiology of America Research Network

Directory of Open Access Journals (Sweden)

Rami Sommerstein

2017-08-01

Full Text Available Abstract In this cross-sectional Society for Healthcare Epidemiology of America Research Network survey on knowledge sharing in infection prevention we identified a rudimentary understanding of how to communicate and share knowledge within healthcare institutions. Our data support the need of further research in this important field.

Immunology and Genetic of Preeclampsia

Directory of Open Access Journals (Sweden)

Norma C. Serrano

2006-01-01

Full Text Available Preeclampsia is a disease characterized by hypertension and proteinuria in the third trimester of pregnancy. Preeclampsia is a major cause of maternal mortality, and fetal death, especially in developing countries, but its aetiology remains unclear. Key findings support a causal role of superficial placentation driven by immune mal maladaptation, which then lead to reduced concentrations of angiogenic growth factors and to an increase in placental debris in the maternal circulation resulting in a maternal inflammatory response. Epidemiological research has consistently demonstrated a substantial familial predisposition to preeclampsia. Unfortunately, the conquest of the genes explaining such a individual susceptibility has been proved to be a hard task. However, genetics will also inform us about causality of environmental factors, and then serve as a tool to prioritize therapeutic targets for preventive strategies.

Enterprising or altruistic selves? Making up research subjects in genetics research.

Science.gov (United States)

Tutton, Richard; Prainsack, Barbara

2011-11-01

The emergence of direct-to-consumer (DTC) personal genomics companies in 2007 was accompanied by considerable media attention and criticism from clinical geneticists and other health professionals, regulators, policy advisors, and ethicists. As well as offering genetic testing services, some firms are also engaged in building their own databases and conducting research with the data obtained from their customers. In this paper, we examine how one of these companies, 23andMe, is creating a certain kind of 'research subject' in opposition to that constituted in conventional forms of disease research. Drawing on debates about neoliberalism, contemporary health discourses and subjectivity, we consider two kinds of subjectivities produced through the discursive and material practices of 23andMe and UK Biobank, namely, 'enterprising' and 'altruistic' selves. We argue that the 23andMe model promotes the idea that curiosity about one's genome on the one hand, and participation in research on the other, are not only compatible but complementary aspects of being an entrepreneurial subject of contemporary health and medicine framed by the technologies of web 2.0. © 2011 The Authors. Sociology of Health & Illness © 2011 Foundation for the Sociology of Health & Illness/Blackwell Publishing Ltd.

Exploring Asian Indian and Pakistani views about cancer and participation in cancer genetics research: toward the development of a community genetics intervention.

Science.gov (United States)

Leader, Amy E; Mohanty, Salini; Selvan, Preethi; Lum, Ray; Giri, Veda N

2018-01-01

Cancer is a leading cause of mortality among the three million Asian Indian/Pakistanis (AIPs) in the USA. AIPs have traditionally been underrepresented in cancer-related research, although reasons remain largely unexplored. We sought to understand AIP's awareness and perceptions of cancer to improve their participation in risk assessment and cancer genetics research. Four focus groups, stratified by gender and birthplace (US-born vs. foreign-born), were held at an AIP cultural center. Discussions focused on knowledge and awareness of cancer risk; how AIP culture influences cancer perceptions; access to health care services for cancer screening, diagnosis, or treatment; and willingness to or experiences with participating in cancer genetics research. Sessions were audio-recorded, transcribed verbatim, and content analyzed using NVivo ® 11 for dominant themes. Thirty-two AIP adults participated in a focus group. Information on family cancer history is challenging to obtain due to the desire for privacy, cancer stigma, and loss of medical records. Interest in genetic testing for cancer risk was mixed: some were in favor of knowing their personal risk, yet many noted that future generations in their family would benefit more by knowing their risk. Participants felt that the AIP community has largely been overlooked in recruitment efforts for research studies. Recommendations for improving recruitment efforts included partnering with community events and festivities, posting culturally and linguistically relevant recruitment materials, and focusing on population-wide health improvement. Understanding the culture and perceptions of AIPs, separate from Asian Americans at large, will allow for more tailored approaches for including this population in cancer genetics research.

Human health effects of radium: an epidemiologic perspective of research at Argonne National Laboratory

International Nuclear Information System (INIS)

Stebbings, J.H.

1982-01-01

The topic of health effects of radium has recently been considerably broadened by the identification of multiple myeloma as a specific outcome of bone-seeking radionuclides, and by evidence that the incidence of breast cancer may be significantly increased by radium exposure. All soft-tissue tumors are now suspect, especially leukemias. Concepts of dose-response need to be broadened to include the concept of risk factors, or, if one prefers, of susceptible subgroups. Biological factors relating to radium uptake and retention require study, as do risk factors modifying risk of both the classical tumors, osteosarcoma and nasal sinus/mastoid, and the more recently suspect soft-tissue tumors. The history, organization, and current research activities in epidemiology at Argonne National Laboratory are described, and findings of the last decade and a half reviewed. Plans for future research are briefly discussed

International Veterinary Epilepsy Task Force's current understanding of idiopathic epilepsy of genetic or suspected genetic origin in purebred dogs

DEFF Research Database (Denmark)

Hülsmeyer, Velia-Isabel; Fischer, Andrea; Mandigers, Paul J. J.

2015-01-01

Canine idiopathic epilepsy is a common neurological disease affecting both purebred and crossbred dogs. Various breed-specific cohort, epidemiological and genetic studies have been conducted to date, which all improved our knowledge and general understanding of canine idiopathic epilepsy, and in ...

Epidemiological links between tuberculosis cases identified twice as efficiently by whole genome sequencing than conventional molecular typing: A population-based study.

Science.gov (United States)

Jajou, Rana; de Neeling, Albert; van Hunen, Rianne; de Vries, Gerard; Schimmel, Henrieke; Mulder, Arnout; Anthony, Richard; van der Hoek, Wim; van Soolingen, Dick

2018-01-01

Patients with Mycobacterium tuberculosis isolates sharing identical DNA fingerprint patterns can be epidemiologically linked. However, municipal health services in the Netherlands are able to confirm an epidemiological link in only around 23% of the patients with isolates clustered by the conventional variable number of tandem repeat (VNTR) genotyping. This research aims to investigate whether whole genome sequencing (WGS) is a more reliable predictor of epidemiological links between tuberculosis patients than VNTR genotyping. VNTR genotyping and WGS were performed in parallel on all Mycobacterium tuberculosis complex isolates received at the Netherlands National Institute for Public Health and the Environment in 2016. Isolates were clustered by VNTR when they shared identical 24-loci VNTR patterns; isolates were assigned to a WGS cluster when the pair-wise genetic distance was ≤ 12 single nucleotide polymorphisms (SNPs). Cluster investigation was performed by municipal health services on all isolates clustered by VNTR in 2016. The proportion of epidemiological links identified among patients clustered by either method was calculated. In total, 535 isolates were genotyped, of which 25% (134/535) were clustered by VNTR and 14% (76/535) by WGS; the concordance between both typing methods was 86%. The proportion of epidemiological links among WGS clustered cases (57%) was twice as common than among VNTR clustered cases (31%). When WGS was applied, the number of clustered isolates was halved, while all epidemiologically linked cases remained clustered. WGS is therefore a more reliable tool to predict epidemiological links between tuberculosis cases than VNTR genotyping and will allow more efficient transmission tracing, as epidemiological investigations based on false clustering can be avoided.

[Epidemiologic and medical sociological aspects of hypertension].

Science.gov (United States)

Siegrist, J

1995-10-01

Cardiovascular diseases are a major determinant of overall and premature mortality in advanced and in rapidly developing societies. In view of their importance it is mandatory to identify underlying risk factors and to guide preventive and therapeutic actions accordingly. Hypertension is one of the most prevalent and well-established cardiovascular risk factors. This paper briefly summarizes some major determinants of high blood pressure from an epidemiologic and sociomedical point of view. Determinants include age, overweight, physical inactivity, salt and alcohol intake, family history of hypertension, race and socio-economic status. The complexity of these influences is discussed by pointing to interactions between genetic and socio-environmental influences, e.g. in the case of age, bodyweight and salt intake. Based on experimental animal research there is now solid evidence on direct links between psychosocial stress, patterns of neuroendocrine activation and elevation of blood pressure. Four theoretical concepts are described which identify conditions of chronic psychosocial vulnerability or protection in man, and their role in explaining the prevalence of hypertension in epidemiologic studies is discussed. The four concepts are labelled "socioemotional support", "lifestyle incongruity", "job strain" and "effort-reward-imbalance at work". Special emphasis is given to the two latter concepts in view of the potential role of occupational life in triggering high blood pressure during middle adulthood. For instance, Table 1 indicates that high job strain, i.e. high demands in combination with low control at work, is associated with a relative risk of 3 of being hypertensive, after adjusting for important confounders.(ABSTRACT TRUNCATED AT 250 WORDS)

Amostragem domiciliar contínua em estudos epidemiológicos e no ensino Continuous household sampling for epidemiological research and for teaching purposes

Directory of Open Access Journals (Sweden)

José da Rocha Carvalheiro

1979-09-01

Full Text Available Descreve-se um sistema contínuo de levantamento de condições de saúde, por entrevistas domiciliárias, operando em Ribeirão Preto (SP desde 1974. Comentam-se as vantagens quanto à sua utilização na investigação de problemas específicos surgidos nesse período, bem como a sua utilização no ensino.The use of adequate populational-base survey is frequently impossible in epidemiological studies. Special studies are made among particular groups of individuals to investigate simultaneously the presence of both the factor and the disease. In these studies it is obviously important to use adequate sampling techniques. A system of continuous household sampling is described, designed to perform, simultaneously, epidemiological research, health system monitoring and to serve as a basis for courses on sampling techniques and epidemiological methods. In the municipality of Ribeirão Preto, S. Paulo, Brazil a household sampling system has been in operation since 1974, using a master sample of 8500 households. Every two weeks, 380 households are visited and information is gathered about diseases, accidents, and the use of health services. Special epidemiological research is introduced when necessary. Future development includes the use of standardized questionnaires and physical and laboratory examinations of the people interviewed.

DisEpi: Compact Visualization as a Tool for Applied Epidemiological Research.

Science.gov (United States)

Benis, Arriel; Hoshen, Moshe

2017-01-01

Outcomes research and evidence-based medical practice is being positively impacted by proliferation of healthcare databases. Modern epidemiologic studies require complex data comprehension. A new tool, DisEpi, facilitates visual exploration of epidemiological data supporting Public Health Knowledge Discovery. It provides domain-experts a compact visualization of information at the population level. In this study, DisEpi is applied to Attention-Deficit/Hyperactivity Disorder (ADHD) patients within Clalit Health Services, analyzing the socio-demographic and ADHD filled prescription data between 2006 and 2016 of 1,605,800 children aged 6 to 17 years. DisEpi's goals facilitate the identification of (1) Links between attributes and/or events, (2) Changes in these relationships over time, and (3) Clusters of population attributes for similar trends. DisEpi combines hierarchical clustering graphics and a heatmap where color shades reflect disease time-trends. In the ADHD context, DisEpi allowed the domain-expert to visually analyze a snapshot summary of data mining results. Accordingly, the domain-expert was able to efficiently identify that: (1) Relatively younger children and particularly youngest children in class are treated more often, (2) Medication incidence increased between 2006 and 2011 but then stabilized, and (3) Progression rates of medication incidence is different for each of the 3 main discovered clusters (aka: profiles) of treated children. DisEpi delivered results similar to those previously published which used classical statistical approaches. DisEpi requires minimal preparation and fewer iterations, generating results in a user-friendly format for the domain-expert. DisEpi will be wrapped as a package containing the end-to-end discovery process. Optionally, it may provide automated annotation using calendar events (such as policy changes or media interests), which can improve discovery efficiency, interpretation, and policy implementation.

Methodological considerations in observational comparative effectiveness research for implantable medical devices: an epidemiologic perspective.

Science.gov (United States)

Jalbert, Jessica J; Ritchey, Mary Elizabeth; Mi, Xiaojuan; Chen, Chih-Ying; Hammill, Bradley G; Curtis, Lesley H; Setoguchi, Soko

2014-11-01

Medical devices play a vital role in diagnosing, treating, and preventing diseases and are an integral part of the health-care system. Many devices, including implantable medical devices, enter the market through a regulatory pathway that was not designed to assure safety and effectiveness. Several recent studies and high-profile device recalls have demonstrated the need for well-designed, valid postmarketing studies of medical devices. Medical device epidemiology is a relatively new field compared with pharmacoepidemiology, which for decades has been developed to assess the safety and effectiveness of medications. Many methodological considerations in pharmacoepidemiology apply to medical device epidemiology. Fundamental differences in mechanisms of action and use and in how exposure data are captured mean that comparative effectiveness studies of medical devices often necessitate additional and different considerations. In this paper, we discuss some of the most salient issues encountered in conducting comparative effectiveness research on implantable devices. We discuss special methodological considerations regarding the use of data sources, exposure and outcome definitions, timing of exposure, and sources of bias. © The Author 2014. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Epidemiological data and radiation risk estimates

International Nuclear Information System (INIS)

Cardis, E.

2002-01-01

The results of several major epidemiology studies on populations with particular exposure to ionizing radiation should become available during the first years of the 21. century. These studies are expected to provide answers to a number of questions concerning public health and radiation protection. Most of the populations concerned were accidentally exposed to radiation in ex-USSR or elsewhere or in a nuclear industrial context. The results will complete and test information on risk coming from studies among survivors of the Hiroshima and Nagasaki atomic bombs, particularly studies on the effects of low dose exposure and prolonged low-dose exposure, of different types of radiation, and environmental and host-related factors which could modify the risk of radiation-induced effects. These studies are thus important to assess the currently accepted scientific evidence on radiation protection for workers and the general population. In addition, supplementary information on radiation protection could be provided by formal comparisons and analyses combining data from populations with different types of exposure. Finally, in order to provide pertinent information for public health and radiation protection, future epidemiology studies should be targeted and designed to answer specific questions, concerning, for example, the risk for specific populations (children, patients, people with genetic predisposition). An integrated approach, combining epidemiology and studies on the mechanisms of radiation induction should provide particularly pertinent information. (author)

Epidemiology in wonderland: Big Data and precision medicine.

Science.gov (United States)

Saracci, Rodolfo

2018-03-01

Big Data and precision medicine, two major contemporary challenges for epidemiology, are critically examined from two different angles. In Part 1 Big Data collected for research purposes (Big research Data) and Big Data used for research although collected for other primary purposes (Big secondary Data) are discussed in the light of the fundamental common requirement of data validity, prevailing over "bigness". Precision medicine is treated developing the key point that high relative risks are as a rule required to make a variable or combination of variables suitable for prediction of disease occurrence, outcome or response to treatment; the commercial proliferation of allegedly predictive tests of unknown or poor validity is commented. Part 2 proposes a "wise epidemiology" approach to: (a) choosing in a context imprinted by Big Data and precision medicine-epidemiological research projects actually relevant to population health, (b) training epidemiologists, (c) investigating the impact on clinical practices and doctor-patient relation of the influx of Big Data and computerized medicine and (d) clarifying whether today "health" may be redefined-as some maintain in purely technological terms.

Genetic epidemiology of coronary artery disease: an Asian Indian ...

Indian Academy of Sciences (India)

The present review aims to consolidate the available literature on the genetics of. CAD in Asian Indians ... India and the US who were participating in the Sikh Diabetes ..... to undertake systematic large-scale studies in order to under- stand the ...

Characterization of Microsatellites in Pseudogymnoascus destructans for White-nose Syndrome Genetic Analysis.

Science.gov (United States)

Drees, Kevin P; Parise, Katy L; Rivas, Stephanie M; Felton, Lindsey L; Puechmaille, Sébastien J; Keim, Paul; Foster, Jeffrey T

2017-10-01

Despite only emerging in the past decade, white-nose syndrome has become among the most devastating wildlife diseases known. The pathogenic fungus Pseudogymnoascus destructans infects hibernating bats and typically leads to high rates of mortality at hibernacula during winter in North America. We developed a set of genetic markers to better differentiate P. destructans isolates. We designed and successfully characterized these 23 microsatellite markers of P. destructans for use in disease ecology and epidemiology research. We validated these loci with DNA extracted from a collection of P. destructans isolates from the US and Canada, as well as from Europe (the likely introduction source based on currently available data). Genetic diversity calculated for each locus and for the multilocus panel as a whole indicates sufficient allelic diversity to differentiate among and between samples from both Europe and North America. Indices of genetic diversity indicate a loss of allelic diversity that is consistent with the recent introduction and rapid spread of an emerging pathogen.