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Genetic Epidemiology

A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601).

Deadline for manuscript submissions: closed (31 July 2014) | Viewed by 32908

Special Issue Editors

Dr. Catherine M. Stein

E-Mail Website
Guest Editor
Department of Epidemiology and Biostatistics, Case Western Reserve University, Wolstein Research Building, Room 1316, 2103 Cornell Rd., Cleveland, OH 44106, USA
Dr. Farren B. S. Briggs

E-Mail Website
Guest Editor
Department of Population and Quantitative Health Sciences, School of Medicine, Case Western Reserve University, Cleveland, OH 44106, USA
Interests: multiple sclerosis; complex diseases; complex disease genetics; gene-environment interactions; metabolomics; multi-omics; modelling complex phenotypes
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The field of genetic epidemiology has grown rapidly over the last decade. Genetic epidemiology has advanced from targeted candidate gene studies and genome-wide linkage scans, to genome-wide association studies (GWAS), the identification of copy number variants (CNVs), and most recently, whole genome and whole exome sequencing studies (WGS/WES). Through these advances in technology and analytical approaches, many discoveries have been made concerning the identification of the genes that contribute to susceptibility to complex traits. Despite the great success in identifying the major genetic risk factors underlying many traits, there are still many undiscovered genetic risk factors. These unidentified factors pose the problem of "missing heritability".

Potential contributors to the missing heritability problem are environmental background and gene-environment interaction. While most genetic epidemiological studies have taken cutting edge approaches to the identification of risk genes (eg. GWAS and WGS/WES), fewer studies have examined environmental impacts. Environmental conditions may broadly include factors such as socio-economic status, diet, smoking, or even infectious disease exposure. Recent research suggests that the microbiome should also be considered in human genetic research. Since some of these factors may be considered modifiable risk factors, it is imperative to examine the environment in the context of genetic epidemiological studies.

In addition, new discoveries in genomic medicine may have effects on risk assessment, personalized medicine, and public health. For example, newborn screening programs are continuously being updated. The identification of disease-causing genetic variants within whole genome studies may have both clinical applications as well as ethical ramifications.

"Genetic epidemiology" researches human genetic risk factors in the context of environmental risk factors and public health in general.

Dr. Catherine M. Stein
Dr. Farren Briggs
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Environmental Research and Public Health is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2500 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Gene-environment interaction
  • Incidental findings
  • Public health genomics
  • Personalized medicine
  • Newborn screening
  • Return of results
  • Methods for gene-environment interaction
  • Geographic variation and genetic risk
  • Infectious diseases
  • Autoimmune diseases
  • Diet and genetics
  • Pharmacogenetics
  • Microbiome
  • Environmental exposures and genomics
  • Environmental DNA

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Published Papers (4 papers)

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Research

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1081 KiB  
Article
On the Analysis of a Repeated Measure Design in Genome-Wide Association Analysis
by Young Lee, Suyeon Park, Sanghoon Moon, Juyoung Lee, Robert C. Elston, Woojoo Lee and Sungho Won
Int. J. Environ. Res. Public Health 2014, 11(12), 12283-12303; https://doi.org/10.3390/ijerph111212283 - 28 Nov 2014
Cited by 8 | Viewed by 5896
Abstract
Longitudinal data enables detecting the effect of aging/time, and as a repeated measures design is statistically more efficient compared to cross-sectional data if the correlations between repeated measurements are not large. In particular, when genotyping cost is more expensive than phenotyping cost, the [...] Read more.
Longitudinal data enables detecting the effect of aging/time, and as a repeated measures design is statistically more efficient compared to cross-sectional data if the correlations between repeated measurements are not large. In particular, when genotyping cost is more expensive than phenotyping cost, the collection of longitudinal data can be an efficient strategy for genetic association analysis. However, in spite of these advantages, genome-wide association studies (GWAS) with longitudinal data have rarely been analyzed taking this into account. In this report, we calculate the required sample size to achieve 80% power at the genome-wide significance level for both longitudinal and cross-sectional data, and compare their statistical efficiency. Furthermore, we analyzed the GWAS of eight phenotypes with three observations on each individual in the Korean Association Resource (KARE). A linear mixed model allowing for the correlations between observations for each individual was applied to analyze the longitudinal data, and linear regression was used to analyze the first observation on each individual as cross-sectional data. We found 12 novel genome-wide significant disease susceptibility loci that were then confirmed in the Health Examination cohort, as well as some significant interactions between age/sex and SNPs. Full article
(This article belongs to the Special Issue Genetic Epidemiology)
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2207 KiB  
Article
Longitudinal Trajectories of Cholesterol from Midlife through Late Life according to Apolipoprotein E Allele Status
by Brian Downer, Steven Estus, Yuriko Katsumata and David W. Fardo
Int. J. Environ. Res. Public Health 2014, 11(10), 10663-10693; https://doi.org/10.3390/ijerph111010663 - 16 Oct 2014
Cited by 27 | Viewed by 7553
Abstract
Background: Previous research indicates that total cholesterol levels increase with age during young adulthood and middle age and decline with age later in life. This is attributed to changes in diet, body composition, medication use, physical activity, and hormone levels. In the current [...] Read more.
Background: Previous research indicates that total cholesterol levels increase with age during young adulthood and middle age and decline with age later in life. This is attributed to changes in diet, body composition, medication use, physical activity, and hormone levels. In the current study we utilized data from the Framingham Heart Study Original Cohort to determine if variations in apolipoprotein E (APOE), a gene involved in regulating cholesterol homeostasis, influence trajectories of total cholesterol, HDL cholesterol, and total: HDL cholesterol ratio from midlife through late life. Methods: Cholesterol trajectories from midlife through late life were modeled using generalized additive mixed models and mixed-effects regression models. Results: APOE e2+ subjects had lower total cholesterol levels, higher HDL cholesterol levels, and lower total: HDL cholesterol ratios from midlife to late life compared to APOE e3 and APOE e4+ subjects. Statistically significant differences in life span cholesterol trajectories according to gender and use of cholesterol-lowering medications were also detected. Conclusion: The findings from this research provide evidence that variations in APOE modify trajectories of serum cholesterol from midlife to late life. In order to efficiently modify cholesterol through the life span, it is important to take into account APOE allele status. Full article
(This article belongs to the Special Issue Genetic Epidemiology)
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560 KiB  
Article
Practical Barriers and Ethical Challenges in Genetic Data Sharing
by Claire L. Simpson, Aaron J. Goldenberg, Rob Culverhouse, Denise Daley, Robert P. Igo, Jr., Gail P. Jarvik, Diptasri M. Mandal, Deborah Mascalzoni, Courtney Gray Montgomery, Brandon L. Pierce, Rosemarie Plaetke, Sanjay Shete, Katrina A. B. Goddard and Catherine M. Stein
Int. J. Environ. Res. Public Health 2014, 11(8), 8383-8398; https://doi.org/10.3390/ijerph110808383 - 15 Aug 2014
Cited by 20 | Viewed by 10675
Abstract
The underlying ethos of dbGaP is that access to these data by secondary data analysts facilitates advancement of science. NIH has required that genome-wide association study data be deposited in the Database of Genotypes and Phenotypes (dbGaP) since 2003. In 2013, a proposed [...] Read more.
The underlying ethos of dbGaP is that access to these data by secondary data analysts facilitates advancement of science. NIH has required that genome-wide association study data be deposited in the Database of Genotypes and Phenotypes (dbGaP) since 2003. In 2013, a proposed updated policy extended this requirement to next-generation sequencing data. However, recent literature and anecdotal reports suggest lingering logistical and ethical concerns about subject identifiability, informed consent, publication embargo enforcement, and difficulty in accessing dbGaP data. We surveyed the International Genetic Epidemiology Society (IGES) membership about their experiences. One hundred and seventy five (175) individuals completed the survey, a response rate of 27%. Of respondents who received data from dbGaP (43%), only 32% perceived the application process as easy but most (75%) received data within five months. Remaining challenges include difficulty in identifying an institutional signing official and an overlong application process. Only 24% of respondents had contributed data to dbGaP. Of these, 31% reported local IRB restrictions on data release; an additional 15% had to reconsent study participants before depositing data. The majority of respondents (56%) disagreed that the publication embargo period was sufficient. In response, we recommend longer embargo periods and use of varied data-sharing models rather than a one-size-fits-all approach. Full article
(This article belongs to the Special Issue Genetic Epidemiology)

Review

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330 KiB  
Review
Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies
by Piero C. Giordano, Cornelis L. Harteveld and Egbert Bakker
Int. J. Environ. Res. Public Health 2014, 11(6), 6136-6146; https://doi.org/10.3390/ijerph110606136 - 11 Jun 2014
Cited by 33 | Viewed by 7821 | Correction
Abstract
Healthy carriers of severe Hemoglobinopathies are usually asymptomatic and only efficiently detected through screening campaigns. Based upon epidemiological data, screenings have been offered for decades to populations of endemic Southern Europe for primary prevention of Thalassemia Major, while for many populations of the [...] Read more.
Healthy carriers of severe Hemoglobinopathies are usually asymptomatic and only efficiently detected through screening campaigns. Based upon epidemiological data, screenings have been offered for decades to populations of endemic Southern Europe for primary prevention of Thalassemia Major, while for many populations of the highly endemic African and Asian countries prevention for Sickle Cell Disease and Thalassemia Major is mainly unavailable. The massive migrations of the last decades have brought many healthy carriers of these diseases to live and reproduce in non-endemic immigration areas changing the epidemiological pattern of the local recessive diseases and bringing an urgent need for treatment and primary prevention in welfare countries. Nonetheless, no screening for an informed reproductive choice is actively offered by the healthcare systems of most of these welfare countries. As a consequence more children affected with severe Hemoglobinopathies are born today in the immigration countries of Northern Europe than in the endemic Southern European area. Following the Mediterranean example, some countries like the UK and The Netherlands have been offering early pregnancy carrier screening at different levels and/or in specific areas but more accessible measures need to be taken at the national level in all immigration countries. Identification of carriers using simple and inexpensive methods should be included in the Rhesus and infectious diseases screening which is offered early in pregnancy in most developed countries. This would allow identification of couples at risk in time for an informed choice and for prenatal diagnosis if required before the first affected child is born. Full article
(This article belongs to the Special Issue Genetic Epidemiology)
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