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American Journal of Epidemiology Advance Access originally published online on October 20, 2008
American Journal of Epidemiology 2009 169(1):54-66; doi:10.1093/aje/kwn286
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American Journal of Epidemiology Published by Oxford University Press 2008.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.


ORIGINAL CONTRIBUTIONS

Prevalence in the United States of Selected Candidate Gene Variants

Third National Health and Nutrition Examination Survey, 1991–1994

Man-huei Chang, Mary Lou Lindegren, Mary A. Butler, Stephen J. Chanock, Nicole F. Dowling, Margaret Gallagher, Ramal Moonesinghe, Cynthia A. Moore, Renée M. Ned, Mary R. Reichler, Christopher L. Sanders, Robert Welch, Ajay Yesupriya, Muin J. Khoury and for the CDC/NCI NHANES III Genomics Working Group

Correspondence to Man-huei Chang, National Office of Public Health Genomics, Centers for Disease Control and Prevention, 4770 Buford Highway, Mail Stop K89, Atlanta, GA 30341 (e-mail: mdc9{at}cdc.gov).

Received for publication December 11, 2007. Accepted for publication August 14, 2008.

Population-based allele frequencies and genotype prevalence are important for measuring the contribution of genetic variation to human disease susceptibility, progression, and outcomes. Population-based prevalence estimates also provide the basis for epidemiologic studies of gene–disease associations, for estimating population attributable risk, and for informing health policy and clinical and public health practice. However, such prevalence estimates for genotypes important to public health remain undetermined for the major racial and ethnic groups in the US population. DNA was collected from 7,159 participants aged 12 years or older in Phase 2 (1991–1994) of the Third National Health and Nutrition Examination Survey (NHANES III). Certain age and minority groups were oversampled in this weighted, population-based US survey. Estimates of allele frequency and genotype prevalence for 90 variants in 50 genes chosen for their potential public health significance were calculated by age, sex, and race/ethnicity among non-Hispanic whites, non-Hispanic blacks, and Mexican Americans. These nationally representative data on allele frequency and genotype prevalence provide a valuable resource for future epidemiologic studies in public health in the United States.

alleles; continental population groups; ethnic groups; genetics, population; genotype; nutrition surveys; polymorphism, genetic; prevalence


Abbreviations: CDC, Centers for Disease Control and Prevention; CI, confidence interval; NCHS, National Center for Health Statistics; NCI, National Cancer Institute; NHANES III, Third National Health and Nutrition Examination Survey; SNP, single nucleotide polymorphism


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