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

被引:361
作者
Spielman, Richard S.
Bastone, Laurel A.
Burdick, Joshua T.
Morley, Michael
Ewens, Warren J.
Cheung, Vivian G. [1 ]
机构
[1] Univ Penn, Sch Med, Dept Genet, Philadelphia, PA 19104 USA
[2] Univ Penn, Sch Med, Dept Epidemiol & Biostat, Philadelphia, PA 19104 USA
[3] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA
[4] Univ Penn, Dept Biol, Philadelphia, PA 19104 USA
[5] Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA
关键词
D O I
10.1038/ng1955
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:226 / 231
页数:6
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