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Public Health Genomics Program Review

4.4 NHANES III Collaborative Genomics Project

Determination of the prevalence of genetic polymorphisms of public health importance in the U.S. population, and in subgroups of the population, is a critical first step in evaluating the genetic epidemiology of complex diseases. Such data would be an invaluable resource for: 1) investigations into U.S. population structure; 2) calculations of population attributable fraction(s) of the U.S. burden of disease associated with genetic variation and gene-environment interaction; and 3) assessment of the potential for screening population subgroups for genes that confer susceptibility to disease. In addition, population-based allele and genotype prevalence data would also serve as a reference for researchers to use in designing future association studies.

Genotyping of Gene Variants of Public Health Importance

In FY2007, NCI and CDC laboratories completed the genotyping of 90 variants in 50 genes, and successfully deposited the results at the National Center for Health Statistics (NCHS). Statistical analysis for each of the approximately 35 genotype-phenotype correlation studies is in progress at NCHS.

CDC/NCI NHANES Working Group

The CDC/NCI Working Group has written the first manuscript entitled “Prevalence in the United States of Variants in Genes of Public Health Importance: Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994.” OPHG statisticians and analysts are also preparing a second manuscript describing the statistical methods that have been developed for use in complex surveys including genetic data. The CDC/NCI Working Group are reviewing their preliminary data analyses and finalizing their analytic plans for genotype-phenotype association analyses of the NCHS genotype-phenotype correlation studies.

Manuscript in clearance:

Chang M, Lindegren ML, Butler MA, Chanock SJ, Dowling NF, Gallagher M, Moonesinghe R, Moore CA, Ned RM, Reichler M, Sanders CL, Welch R, Yesupriya A, and Khoury MJ. Prevalence in the United States of Variants in Genes of Public Health Importance: Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994.

Beyond Gene Discovery (BGD) Working Group

In FY2007, OPHG established a Beyond Gene Discovery (BGD) Working Group, with representation from all centers at CDC, which will use a whole-genome approach (approximately one million SNPs and copy number variants) to assess the prevalence of genetic polymorphisms in the NHANES III DNA Bank. Completion of this project will enhance the value of many ongoing gene discovery studies, helping to translate their findings into new targets for prevention, diagnosis, and treatment of common diseases, and will provide the basis for estimating the number of people who may benefit from particular genotype-based screening or diagnostic tests, drugs, or other preventive or therapeutic interventions.


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