Candidate-gene approaches for studying complex genetic traits: practical considerations
Abstract
Association studies with candidate genes have been widely used for the study of complex diseases. However, this approach has been criticized because of non-replication of results and limits on its ability to include all possible causative genes and polymorphisms. These challenges have led to pessimism about the candidate-gene approach and about the genetic analysis of complex diseases in general. We believe that these criticisms can be usefully countered with an appeal to the principles of epidemiological investigation.
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Typically, candidate genes for AMD have been selected based on a priori knowledge of the biological pathways involved in disease or on investigator prejudices about the pathways likely to contribute to disease susceptibility.
“Typically, these genes have been selected based on a priori knowledge of the biological pathways involved in disease or on investigator prejudices about the pathways likely to contribute to disease susceptibility (7, 149).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [149]
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- Authors
- Tabor, H. K., Risch, N. J., & Myers, R. M.
- Affiliations
- Stanford Medicine (US)
- Kaiser Permanente (US)
- Corresponding author
- Myers, Richard M.
- Venue
- Nature Reviews Genetics
- Published
- 2002-05
- Volume
- 3
- Issue
- 5
- Pages
- 391-397
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W1969673534
- Cited by
- 1,076
- References
- 63
- Citations by year
- 2026: 5 · 2025: 12 · 2024: 26 · 2023: 21 · 2022: 24 · 2021: 28 · 2020: 34 · 2019: 36 · 2018: 37 · 2017: 47 · 2016: 40 · 2015: 57 · 2014: 39 · 2013: 54 · 2012: 53
- FWCI
- 8.17
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion, public-domain)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- 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
- Physical Sciences › Environmental Science › Health, Toxicology and Mutagenesis › Health, Environment, Cognitive Aging
- Keywords
- candidate gene association, complex traits, complex diseases, replication of results, genetic polymorphism, causal genes, epidemiological principles, genetic epidemiology
- MeSH terms
- Animals, Humans, Reproducibility of Results, Linkage Disequilibrium, Molecular Epidemiology, Multifactorial Inheritance, Polymorphism, Single Nucleotide
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