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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Gene Expression Omnibus
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We thank T. Weber for carrying out the microarray hybridizations, V. Mancuso for processing samples and data analysis and H. H. Kazazian and K. Ewens for comments on the manuscript. This work was supported by US National Institutes of Health grants (to R.S.S, V.G.C) and by the W.W. Smith Chair (V.G.C.).
The authors declare no competing financial interests.
Genes whose expression differs significantly between CEU and CHB+JPT samples. (PDF 89 kb)
Four genes with evidence for differences in mean expression between CEU and CHB+JPT due to different regulatory mechanisms. (PDF 67 kb)
Four genes with evidence for differences in mean expression between CEU and CHB+JPT due to different regulatory mechanisms. (PDF 69 kb)
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Spielman, R., Bastone, L., Burdick, J. et al. Common genetic variants account for differences in gene expression among ethnic groups. Nat Genet 39, 226–231 (2007). https://doi.org/10.1038/ng1955
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