The genetic variation of CCR5, CXCR4 and SDF-1 in three Chinese ethnic populations

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• 作者：Yanyan Liu^a ; Feng-Liang Liu^b ; Yanqin He^c ; Liming Li^a ; Shilin Li^a ; Yong-Tang Zheng^b ; Hongyan Wang^a ; ^{wanghy@fudan.edu.cn} ; Xiaohong Gong^a ; ^{gongxh@fudan.edu.cn}
• 关键词：HIV ; CCR5 ; CXCR4 ; SDF-1 ; Polymorphism
• 刊名：Infection ; Genetics and Evolution
• 出版年：2012
• 期刊代码：119_15671348
• 类别：med
• 出版时间：July, 2012
• 卷：12
• 期：5
• 页码：1072-1078
• 文件大小：646 K

摘要

The chemokine receptors and ligand CCR5, CXCR4 and SDF-1 play important roles in the entry of HIV-1 into host cells. Genetic polymorphisms such as CCR5-螖32 and SDF-1 3鈥睞 have been reported to be associated with HIV-1 susceptibility and the progression of AIDS. Considering the remarkable difference in CCR5-螖32 allele frequency among worldwide populations, we aimed to survey the genetic variations in CCR5, CXCR4 and SDF-1 in different Chinese populations. The open reading frames and regulatory regions of CCR5, CXCR4 and SDF-1 were sequenced in 141 Chinese individuals from three ethnic groups: Han, Mongol and Uyghur. Ninety-six variants were identified, 41 of which were newly identified (NI) in Chinese populations. A novel non-synonymous variant c.459 C>T (Trp153Cys) within CCR5 was identified in one Han individual. Of NI variants, 11 were common polymorphisms with a minor allele frequency (MAF) >5%. The polymorphism CCR5-螖32 was found in three Uyghur individuals but was absent in Han and Mongol groups. The linkage disequilibrium (LD) analysis of CCR5 and SDF-1 and frequency of CCR5 haplotypes showed considerable divergence among three ethnic groups. Our results show the great genetic heterogeneity within CCR5, CXCR4 and SDF-1 in Chinese ethnic populations.