Gene–environment interactions in human diseases
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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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”
From Statistical analysis strategies for association studies involving rare variants (2010) · cites this paper as [8]
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“As the field matures to consider the role of genetic modifiers, 62 as well as social and environmental interactions, 63 genotypes of diverse individuals are needed to consider the effects of genetic modifiers and the environment on variants.”
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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
- Licence
- www.springer.com/tdm (tdm)
- 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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