Cited by 1,132Genetic Associations and EpidemiologyHealth, Environment, Cognitive AgingNutrition, Genetics, and Disease

Gene–environment interactions in human diseases

Hunter, David J.·2005·Nature Reviews Genetics

Abstract

Studies of gene-environment interactions aim to describe how genetic and environmental factors jointly influence the risk of developing a human disease. Gene-environment interactions can be described by using several models, which take into account the various ways in which genetic effects can be modified by environmental exposures, the number of levels of these exposures and the model on which the genetic effects are based. Choice of study design, sample size and genotyping technology influence the analysis and interpretation of observed gene-environment interactions. Current systems for reporting epidemiological studies make it difficult to assess whether the observed interactions are reproducible, so suggestions are made for improvements in this area.

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Crossref · 10.1038/nrg1578

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  • Many genetic and epigenetic factors, including multiple rare single nucleotide variants, copy number variations, and other structural variation, likely contribute to common complex diseases.

    “It is now widely believed that many genetic and epigenetic factors are likely to contribute to common complex diseases, including multiple rare SNVs (defined by convention as those that have frequencies < 1%), copy number variations (CNVs), and other forms of structural variation. 3–12”

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Authors
Hunter, D. J.
Affiliations
Brigham and Women's Hospital (US)
Corresponding author
Hunter, David J.
Venue
Nature Reviews Genetics
Published
2005-04
Volume
6
Issue
4
Pages
287-298
ISSN
  • 1471-0056 (ISSN-L)
  • 1471-0064
OpenAlex
W1998977949
Cited by
1,132
References
72
Citations by year
2026: 41 · 2025: 51 · 2024: 46 · 2023: 57 · 2022: 60 · 2021: 58 · 2020: 58 · 2019: 68 · 2018: 49 · 2017: 66 · 2016: 71 · 2015: 53 · 2014: 64 · 2013: 54 · 2012: 58
FWCI
5.17
Type
journal article
Language
en
Open access
closed
Locations
  • Nature Reviews Genetics (publishedVersion)
  • PubMed (publishedVersion)
Funders
National Cancer Institute
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Physical Sciences › Environmental Science › Health, Toxicology and Mutagenesis › Health, Environment, Cognitive Aging
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Nutrition, Genetics, and Disease
Keywords
gene-environment interaction, disease risk, genetic susceptibility, environmental exposure, interaction model, research design, genotyping technologies, reproducibility
MeSH terms
Environment, Genotype, Humans, Models, Genetic, Prospective Studies, Risk Factors, Reproducibility of Results, Epidemiologic Studies, Sample Size, Genetic Predisposition to Disease

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