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Nat Genet. 2007 Feb;39(2):226-31. Epub 2007 Jan 7.

Common genetic variants account for differences in gene expression among ethnic groups.

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  • 1Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA. spielman@pobox.upenn.edu

Abstract

Variation in DNA sequence contributes to individual differences in quantitative traits, but in humans the specific sequence variants are known for very few traits. We characterized variation in gene expression in cells from individuals belonging to three major population groups. This quantitative phenotype differs significantly between European-derived and Asian-derived populations for 1,097 of 4,197 genes tested. For the phenotypes with the strongest evidence of cis determinants, most of the variation is due to allele frequency differences at cis-linked regulators. The results show that specific genetic variation among populations contributes appreciably to differences in gene expression phenotypes. Populations differ in prevalence of many complex genetic diseases, such as diabetes and cardiovascular disease. As some of these are probably influenced by the level of gene expression, our results suggest that allele frequency differences at regulatory polymorphisms also account for some population differences in prevalence of complex diseases.

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PMID:
17206142
[PubMed - indexed for MEDLINE]
PMCID:
PMC3005333
Free PMC Article
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