Center for Human Genome Variation, Duke University Medical School, Durham, North Carolina, USA.
J Infect Dis. 2010 Apr 15;201(8):1141-9. doi: 10.1086/651382.
We performed a whole-genome association study of human immunodeficiency virus type 1 (HIV-1) set point among a cohort of African Americans (n = 515), and an intronic single-nucleotide polymorphism (SNP) in the HLA-B gene showed one of the strongest associations. We use a subset of patients to demonstrate that this SNP reflects the effect of the HLA-B5703 allele, which shows a genome-wide statistically significant association with viral load set point (P = 5.6 x 10(-10)). These analyses therefore confirm a member of the HLA-B57 group of alleles as the most important common variant that influences viral load variation in African Americans, which is consistent with what has been observed for individuals of European ancestry, among whom the most important common variant is HLA-B*5701.
我们对一个非裔美国人队列中的人类免疫缺陷病毒 1 型（HIV-1）设定点进行了全基因组关联研究（n = 515），结果显示 HLA-B 基因中的一个内含子单核苷酸多态性（SNP）与 HIV-1 设定点具有最强的相关性之一。我们使用了一组患者来证明该 SNP 反映了 HLA-B5703 等位基因的作用，该等位基因与病毒载量设定点之间存在全基因组统计学显著关联（P = 5.6 x 10(-10)）。因此，这些分析证实了 HLA-B57 等位基因组的一个成员是影响非裔美国人病毒载量变化的最重要常见变异，这与在欧洲血统个体中观察到的情况一致，在欧洲血统个体中，最重要的常见变异是 HLA-B*5701。
