Relying on Our Ancestors

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Science  12 Apr 2013:
Vol. 340, Issue 6129, pp. 121-123
DOI: 10.1126/science.340.6129.121-d

Human populations exhibit differences in linkage disequilbrium, the loss of association between alleles that are located close together on the same chromosome. These differences result in genome-wide association tests—which look for genetic markers associated with a phenotypic trait—finding few significant variants and requiring very large sample sizes. Diversity among linked alleles, such as in people of African descent who on average exhibit more genetic diversity than other populations, helps pinpoint genetic variants associated with traits. Wu et al. investigated the genetic architecture of loci associated with lipids in people of African, Asian, and European descent to elucidate functional variants in lipids among and between populations. Sequential conditional analyses identified complex patterns of variation in previously identified loci within and among populations, as well as novel genotypes associated with lipid levels. Thus, utilizing population structure helps identify the genetic underpinnings of human phenotypic variation.

PLoS Genet. 9, e1003379 (2013).

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