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A comprehensive review of genetic association studies
Open accessAbstract
Most common diseases are complex genetic traits, with multiple genetic and environmental components contributing to susceptibility. It has been proposed that common genetic variants, including single nucleotide polymorphisms (SNPs), influence susceptibility to common disease. This proposal has begun to be tested in numerous studies of association between genetic variation at these common DNA polymorphisms and variation in disease susceptibility. We have performed an extensive review of such association studies. We find that over 600 positive associations between common gene variants and disease have been reported; these associations, if correct, would have tremendous importance for the prevention, prediction, and treatment of most common diseases. However, most reported associations are not robust: of the 166 putative associations which have been studied three or more times, only 6 have been consistently replicated. Interestingly, of the remaining 160 associations, well over half were observed again one or more times. We discuss the possible reasons for this irreproducibility and suggest guidelines for performing and interpreting genetic association studies. In particular, we emphasize the need for caution in drawing conclusions from a single report of an association between a genetic variant and disease susceptibility.
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Only about a dozen extensively reproduced associations of common variants outside the HLA locus were identified in the 20th century.
“Still, only about a dozen extensively reproduced associations of common variants (outside the HLA locus) were identified in the 20th century (24).”
From Genetic Mapping in Human Disease (2008) · cites this paper as [24]
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Metadata
- Authors
- Hirschhorn, J. N., Lohmueller, K., Byrne, E., & Hirschhorn, K.
- Affiliations
- Boston Children's Hospital (US)
- Massachusetts Institute of Technology (US)
- Icahn School of Medicine at Mount Sinai (US)
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2002-03
- Volume
- 4
- Issue
- 2
- Pages
- 45-61
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2143249342
- Cited by
- 1,674
- References
- 44
- Citations by year
- 2026: 4 · 2025: 13 · 2024: 15 · 2023: 16 · 2022: 32 · 2021: 51 · 2020: 35 · 2019: 27 · 2018: 44 · 2017: 29 · 2016: 51 · 2015: 77 · 2014: 79 · 2013: 78 · 2012: 84
- FWCI
- 12.05
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Howard Hughes Medical Institute
- Bristol-Myers Squibb
- Takeda Oncology
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Physical Performance
- Keywords
- genetic association studies, single nucleotide polymorphisms, common genetic variants, disease susceptibility, common complex diseases, replication of genetic associations, irreproducibility, genetic epidemiology
- MeSH terms
- Alleles, Disease Susceptibility, Environment, Genetics, Population, Humans, Genetic Variation, Linkage Disequilibrium, Genome, Human, Guidelines as Topic, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genetic Diseases, Inborn
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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