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Variants Associated with Common Disease Are Not Unusually Differentiated in Frequency across Populations

机译:与常见疾病相关的变异在人群中的频率没有异常的区别

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摘要

Genetic variants that contribute to risk of common disease may differ in frequency across populations more than random variants in the genome do, perhaps because they have been exposed to population-specific natural selection. To assess this hypothesis empirically, we analyzed data from two groups of single-nucleotide polymorphisms (SNPs) that have shown reproducible (n=9) or reported (n=39) associations with common diseases. We compared the frequency differentiation (between Europeans and Africans) of the disease-associated SNPs with that of random SNPs in the genome. These common-disease–associated SNPs are not significantly more differentiated across populations than random SNPs. Thus, for the data examined here, ethnicity will not be a good predictor of genotype at many common-disease–associated SNPs, just as it is rarely a good predictor of genotype at random SNPs in the genome.
机译:导致常见疾病风险的遗传变异与基因组中的随机变异相比,在各个种群中的频率差异可能更大,这可能是因为它们已经经历了特定于种群的自然选择。为了凭经验评估此假设,我们分析了来自两组单核苷酸多态性(SNP)的数据,这些数据已显示出可重复性(n = 9)或已报道(n = 39)与常见疾病的关联。我们比较了与疾病相关的SNP与基因组中随机SNP的频率差异(在欧洲人和非洲人之间)。这些常见疾病相关的SNP在人群中的分化没有比随机SNP显着更高。因此,对于此处检查的数据,种族将不是许多常见疾病相关SNP的基因型的良好预测器,就像它很少是基因组中随机SNP的基因型的良好预测器一样。

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