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Distribution of human chemokine (C‐X 3 ‐C) receptor 1 (CX 3 CR1) gene polymorphisms and haplotypes of the CC chemokine receptor 5 (CCR5) promoter in Chinese people, and the effects of CCR5 haplotypes on CCR5 expression
Author(s) -
Li C.,
Lu S. C.,
Hsieh P. S.,
Huang Y. H.,
Huang H. I.,
Ying T. H.,
Shieh B.
Publication year - 2005
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.2005.00498.x
Subject(s) - haplotype , linkage disequilibrium , biology , genotype , chemokine receptor ccr5 , genotyping , allele , genetics , chemokine receptor , cc chemokine receptors , ccr2 , gene , promoter , chemokine , microbiology and biotechnology , receptor , gene expression
Summary Two chemokine (C‐X 3 ‐C) receptor 1 (CX 3 CR1) gene polymorphisms, V249I and T280M, and 10 CC chemokine receptor 5 (CCR5) promoter haplotypes, P1–P10, have recently been reported to influence the progression of acquired immune‐deficiency syndrome (AIDS). As these studies were performed mainly with Caucasian and African‐American subjects, we determined the distribution of these alleles in Chinese people for the purpose of predicting possible clinical responses to the human immunodeficiency virus type 1 (HIV) epidemics in countries with significant Chinese populations, as well as to establish their effects on the expression of surface CCR5. Ninety‐six HIV‐negative Chinese individuals in Taiwan were subjected to genotyping, and we thus determined that the allelic frequencies of CX 3 CR1 V249I and T280M changes were 2.6% and 2.1%, respectively, which were lower than found in Caucasians (25.5% and 14.0%, respectively). Unlike the previous reports, we only detected CCR5 P1 and P4 haplotypes in Taiwanese people, and the P1/P1, P1/P4 and P4/P4 genotype frequencies were 21.0%, 41.1% and 37.9%, respectively. The sequencing data confirmed the results of previous studies, showing that CCR5 P1 exhibited a complete linkage disequilibrium with a polymorphic allele 59029A present in the CCR5 promoter. Furthermore, fluorescence‐activated cell sorter analysis revealed that, in the absence of the CCR2– 64I mutation, individuals carrying CCR5 P1 tended to express more surface CCR5 on monocytes and CD4 + cells. Therefore, this study not only reports the frequencies for the CX 3 CR1 and CCR5 promoter haplotypes in a Chinese population living in Taiwan, but also identifies a statistical link between the P1/P1 haplotype and the elevated CCR5 expression levels in the study group.