Common genetic variants account for differences in gene expression among ethnic groups
Common genetic variants account for differences in gene expression among ethnic groups
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DOI：
10.1038/ng1955
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发表时间：
2007-02-01
期刊：
影响因子：
30.8
通讯作者：
Cheung, Vivian G.
中科院分区：
文献类型：
--
作者：
Spielman, Richard S.;Bastone, Laurel A.;Cheung, Vivian G.
DNA序列的变异导致数量性状的个体差异，但在人类中，只有极少数性状的特定序列变异是已知的。我们对来自三个主要人群组个体的细胞中的基因表达变异进行了特征分析。在测试的4197个基因中，有1097个基因的这种数量表型在欧洲裔和亚洲裔人群之间存在显著差异。对于有最强顺式决定因素证据的表型，大部分变异是由于顺式连锁调节因子的等位基因频率差异所致。结果表明，人群之间的特定基因变异对基因表达表型的差异有显著贡献。人群在许多复杂遗传疾病（如糖尿病和心血管疾病）的患病率上存在差异。由于其中一些疾病可能受基因表达水平的影响，我们的结果表明，调节多态性的等位基因频率差异也是复杂疾病患病率人群差异的部分原因。
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.