The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Population Stratification in Epidemiologic Studies of Common Genetic Variants and Cancer: Quantification of Bias
Abstract
BACKGROUND: Some critics argue that bias from population stratification (the mixture of individuals from heterogeneous genetic backgrounds) undermines the credibility of epidemiologic studies designed to estimate the association between a genotype and the risk of disease. We investigated the degree of bias likely from population stratification in U.S. studies of cancer among non-Hispanic Caucasians of European origin. METHODS: An expression of the confounding risk ratio-the ratio of the effect of the genetic factor on risk of disease with and without adjustment for ethnicity-is used to measure the potential relative bias from population stratification. We first use empirical data on the frequency of the N-acetyltransferase (NAT2) slow acetylation genotype and incidence rates of male bladder cancer and female breast cancer in non-Hispanic U.S. Caucasians with ancestries from eight European countries to assess the bias in a hypothetical population-based U.S. study that does not take ethnicity into consideration. Then, we provide theoretical calculations of the bias over a large range of allele frequencies and disease rates. RESULTS: Ignoring ethnicity leads to a bias of 1% or less in our empirical studies of NAT2. Furthermore, evaluation of a wide range of allele frequencies and representative ranges of cancer rates that exist across European populations shows that the risk ratio is biased by less than 10% in U.S. studies except under extreme conditions. We note that the bias decreases as the number of ethnic strata increases. CONCLUSIONS: There will be only a small bias from population stratification in a well-designed case-control study of genetic factors that ignores ethnicity among non-Hispanic U.S. Caucasians of European origin. Further work is needed to estimate the effect of population stratification within other populations.
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Self-citationGene–environment interactions in human diseases
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Limitations of GCTA as a solution to the missing heritability problem.
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Metadata
- Authors
- Wacholder, S.
- Venue
- Journal of the National Cancer Institute
- Publisher
- Oxford University Press (OUP)
- Published
- 2000-07-19
- Volume
- 92
- Issue
- 14
- Pages
- 1151-1158
- ISSN
- 0027-8874 (ISSN-L)
- 1460-2105
- OpenAlex
- W2098980155
- Cited by
- 440
- References
- 1
- FWCI
- 20.04
- Type
- journal article
- Language
- en
- Open access
- closed
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