Objective: To detect the single nucleotide polymorphism (SNP) of chemokine regulated upon activation, normal T cell expressed and secreted (RANTES) promoter and first intron of asymptomatic, human immunodeficiency virus 1 (HIV-1) infected individuals of in Han Chinese and evaluate the influence on HIV-1 infection by variants.
Methods: Case-control study was adopted, Genotypes of RANTES promoter -403 and -28 from 538 samples and RANTES first intron In1.1 from 300 samples of Han Chinese were detected by DNA sequencing or by polymerase chain reaction-restriction fragment length polymorphism.
Results: There were six genotypes of RANTES promoter -403 and -28 found in Han Chinese group. The distribution of genotypes was AC/AC 12.4%, AC/AG 3.5%, AC/GC 29.2%, AG/GC 10.9%, GC/GC 42.1%, AG/AG 1.5%. The haplotypes was GC 62.7%, AC 28.7%, AG 8.6%. Compared with AC/AC, Odd ratio (OR) of RANTES genotypes AC/AG, AC/GC, AG/GC, GC/GC was associated with weaker reduced susceptibility to HIV-1 infection. However, there were no significant contents of the allele frequencies between people living with HIV-1 and healthy individuals. The distribution of RANTES In1.1 alleles were T/T 71.0%, C/T 19.9%, C/C 9.1% and haplotypes were RANTES In1.1T 81%, In1.1C 19%, respectively; There were significant differences of RANTES In1.1 between people with HIV-1 infection and healthy individuals in males. The In1.1C-bearing genotypes would increase susceptibility to HIV-1 infection but no significant differences in females were found. Strong linkage disequilibrium was observed between all of the three RANTES SNPs.
Conclusion: The two -403A/G, -28C/G variants in RANTES promoter region and intron In1.1 T/C mutation genotype were found to be associated with the genetic susceptibility to HIV-1 infection among the Han Chinese. However, the In1.1C allele or its haplotypes in RANTES intron 1 displayed a stronger dominant association with HIV-1 infection in males.