Letter abstract
Nature Genetics 39, 226 - 231 (2007)
Published online: 7 January 2007 | doi:10.1038/ng1955
Common genetic variants account for differences in gene expression among ethnic groups
Richard S Spielman1, Laurel A Bastone2, Joshua T Burdick3, Michael Morley3, Warren J Ewens4 & Vivian G Cheung1,3,5
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.
- Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
- Department of Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
- The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
- Department of Biology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
- Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
Correspondence to: Vivian G Cheung1,3,5 e-mail: vcheung@mail.med.upenn.edu
Correspondence to: Richard S Spielman1 e-mail: spielman@pobox.upenn.edu
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