title: The genetic variation of CCR5, CXCR4 and SDF-1 in three Chinese ethnic populations.
abstract: 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-Δ32 and SDF-1 3'A have been reported to be associated with HIV-1 susceptibility and the progression of AIDS. Considering the remarkable difference in CCR5-Δ32 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-Δ32 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.
authors.affiliation: The State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
authors.forename: Yanyan
authors.initials: Y
authors.lastname: Liu
authors.forename: Feng-Liang
authors.initials: FL
authors.lastname: Liu
authors.forename: Yanqin
authors.initials: Y
authors.lastname: He
authors.forename: Liming
authors.initials: L
authors.lastname: Li
authors.forename: Shilin
authors.initials: S
authors.lastname: Li
authors.forename: Yong-Tang
authors.initials: YT
authors.lastname: Zheng
authors.forename: Hongyan
authors.initials: H
authors.lastname: Wang
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Gong
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D054377:Chemokine CXCL12 / Q000235:genetics*; D002681:China; D005006:Ethnicity / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D054643:INDEL Mutation; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide; D019713:Receptors, CCR5 / Q000235:genetics*; D019718:Receptors, CXCR4 / Q000235:genetics*
chemical_list: C515255:CXCL12 protein, human; C527276:CXCR4 protein, human; D054377:Chemokine CXCL12; D019713:Receptors, CCR5; D019718:Receptors, CXCR4