Investigating the Association of Host Regulatory Polymorphic Sites with HIV Infection

Abstract

The study investigated the possible association between two polymorphic sites in regulatory region of host genome with HIV-1 infection. Polymorphism was analyzed in Pakistani patent and control samples by allele specific PCR. All HIV positive individuals were either treatment naïve or failed to respond to antiretroviral therapy. The polymorphic sites rs6457282 and rs17064977 being analyzed were proxy SNPs of HIV-1 associated reported SNPs rs7756521 (chromosome 6, HIV-1 control causal variant) and rs8099014 (chromosome 18) respectively. Increased risk of HIV-1 infection was observed with the rs6457282 C/T genotype, as compared to healthy controls (OR = 9.5, 95% CI =1.3119-2.6088 and p = 0.0005). Results suggested that C allele confers susceptibility to HIV-1 infection (OR>1) whereas T allele might have a protective effect with OR<1. When rs17064977C/T polymorphic site was genotyped via allele specific PCR, results suggested its association with HIV susceptibility like rs6457282 T/C in our case-control study. The patient samples were found to be more heterozygous (CT) than control groups. The odd ratios suggested that rs17064977C/T heterozygous genotype may be a risk factor in HIV susceptibility (OR=8.1077, 95%CI=3.1125-21.119, P=0.0001) and the T allele may be a protective factor (OR<1) against HIV acquisition.