Colombo Sara, Rauch Andri, Rotger Margalida, Fellay Jacques, Martinez Raquel, Fux Christoph, Thurnheer Christine, Günthard Huldrych F, Goldstein David B, Furrer Hansjakob, Telenti Amalio
Institute of Microbiology, University Hospital Center and University of Lausanne, Lausanne, Switzerland.
J Infect Dis. 2008 Sep 15;198(6):864-7. doi: 10.1086/591184.
The HLA-B 5701 allele is predictive of hypersensitivity reaction to abacavir, a response herein termed "ABC-HSR." This study of 1,103 individuals infected with human immunodeficiency virus assessed the usefulness of genotyping a HCP5 single-nucleotide polymorphism (SNP), rs2395029, in relation to ABC-HSR. In populations with European ancestry, rs2395029 is in linkage disequilibrium with HLA-B 5701. The HCP5 SNP was present in all 98 HLA-B 5701-positive individuals and was absent in 999 of 1005 HLA-B 5701-negative individuals. rs2395029 was overrepresented in 25 individuals with clinically likely ABC-HSR, compared with its frequency in 175 ABC-tolerant individuals (80% vs. 2%, respectively; P < .0001). Therefore, HCP5 genotyping could serve as a simple screening tool for ABC-HSR, particularly in settings where sequence-based HLA typing is not available.
HLA - B 5701等位基因可预测对阿巴卡韦的超敏反应，本文将这种反应称为“ABC - HSR”。这项对1103名感染人类免疫缺陷病毒的个体进行的研究，评估了对一个HCP5单核苷酸多态性（SNP），即rs2395029进行基因分型与ABC - HSR的相关性。在具有欧洲血统的人群中，rs2395029与HLA - B 5701处于连锁不平衡状态。该HCP5 SNP在所有98名HLA - B 5701阳性个体中均存在，而在1005名HLA - B 5701阴性个体中的999名中不存在。与175名对阿巴卡韦耐受个体中的频率相比，rs2395029在25名临床疑似ABC - HSR个体中出现的比例过高（分别为80%和2%；P <.0001）。因此，HCP5基因分型可作为ABC - HSR的一种简单筛查工具，特别是在无法进行基于序列的HLA分型的情况下。
