Lohmueller Kirk E, Mauney Matthew M, Reich David, Braverman John M
Department of Biology, Georgetown University, Washington, DC 20057-1229, USA.
Am J Hum Genet. 2006 Jan;78(1):130-6. doi: 10.1086/499287. Epub 2005 Nov 16.
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.
导致常见疾病风险的基因变异在不同人群中的频率差异可能比基因组中的随机变异更大，这或许是因为它们受到了特定人群的自然选择。为了通过实证评估这一假设，我们分析了两组单核苷酸多态性（SNP）的数据，这两组数据已显示出与常见疾病具有可重复的关联（n = 9）或已报道的关联（n = 39）。我们将与疾病相关的SNP在欧洲人和非洲人之间的频率分化与基因组中随机SNP的频率分化进行了比较。这些与常见疾病相关的SNP在不同人群中的分化程度并不比随机SNP显著更高。因此，对于此处所研究的数据，在许多与常见疾病相关的SNP上，种族并非基因型的良好预测指标，就如同在基因组中的随机SNP上种族很少是基因型的良好预测指标一样。
