Minority Health and Health Equity Archive

Permanent URI for this collectionhttp://hdl.handle.net/1903/21769

Welcome to the Minority Health and Health Equity Archive (MHHEA), an electronic archive for digital resource materials in the fields of minority health and health disparities research and policy. It is offered as a no-charge resource to the public, academic scholars and health science researchers interested in the elimination of racial and ethnic health disparities.

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Author: search.filters.author.Boerwinkle, EricSubject: search.filters.subject.ethnicity

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    Genetic Structure, Self-Identified Race/Ethnicity, and Confounding in Case-Control Association Studies
    (2005) Tang, Hua; Quertermous, Tom; Rodriguez, Beatriz; Kardia, Sharon LR; Zhu, Xiaofeng; Brown, Andrew; Pankow, James S; Province, Michael A; Hunt, Steven C; Boerwinkle, Eric; Schork, Nicholas J; Risch, Neil J
    We have analyzed genetic data for 326 microsatellite markers that were typed uniformly in a large multiethnic population-based sample of individuals as part of a study of the genetics of hypertension (Family Blood Pressure Program). Subjects identified themselves as belonging to one of four major racial/ethnic groups (white, African American, East Asian, and Hispanic) and were recruited from 15 different geographic locales within the United States and Taiwan. Genetic cluster analysis of the microsatellite markers produced four major clusters, which showed near-perfect correspondence with the four self-reported race/ethnicity categories. Of 3,636 subjects of varying race/ethnicity, only 5 (0.14%) showed genetic cluster membership different from their self-identified race/ethnicity. On the other hand, we detected only modest genetic differentiation between different current geographic locales within each race/ethnicity group. Thus, ancient geographic ancestry, which is highly correlated with self-identified race/ethnicity—as opposed to current residence—is the major determinant of genetic structure in the U.S. population. Implications of this genetic structure for case-control association studies are discussed.
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    Ethnicity and Human Genetic Linkage Maps
    (2005) Jorgenson, Eric; Tang, Hua; Gadde, Maya; Province, Mike; Leppert, Mark; Kardia, Sharon; Schork, Nicholas; Cooper, Richard; Rao, DC; Boerwinkle, Eric; Risch, Neil
    Human genetic linkage maps are based on rates of recombination across the genome. These rates in humans vary by the sex of the parent from whom alleles are inherited, by chromosomal position, and by genomic features, such as GC content and repeat density.We have examined—for the first time, to our knowledge—racial/ethnic differences in genetic maps of humans. We constructed genetic maps based on 353 microsatellite markers in four racial/ethnic groups: whites, African Americans, Mexican Americans, and East Asians (Chinese and Japanese). These maps were generated using 9,291 subjects from 2,900 nuclear families who participated in the National Heart, Lung, and Blood Institute–funded Family Blood Pressure Program, the largest sample used for map construction to date. Although the maps for the different groups are generally similar, we did find regional and genomewide differences across ethnic groups, including a longer genome-wide map for African Americans than for other populations. Some of this variation was explained by genotyping artifacts—namely, null alleles (i.e., alleles with null phenotypes) at a number of loci—and by ethnic differences in null-allele frequencies. In particular, null alleles appear to be the likely explanation for the excess map length in African Americans. We also found that nonrandom missing data biases map results. However, we found regions on chromosome 8p and telomeric segments with significant ethnic differences and a suggestive interval on chromosome 12q that were not due to genotype artifacts. The difference on chromosome 8p is likely due to a polymorphic inversion in the region. The results of our investigation have implications for inferences of possible genetic influences on human recombination as well as for future linkage studies, especially those involving populations of nonwhite ethnicity.