The association of polymorphisms (rs2227981 and rs10204525) of PDCD1 gene with susceptibility to human T-cell leukemia virus type 1.

Human T-cell leukemia virus type 1 (HTLV-1) is the first retrovirus as the causative agent of two serious diseases in human is known. Programmed cell death-1 (PD-1) is a regulatory protein that has an important role in immune system response and created exhaustion phenotype in T cells at chronic infections; therefore, it can impair anti-viral responses. Since the single nucleotide polymorphisms (SNP) in PD-1gene may influence infection with HTLV-1virus, so in this research, association between SNPs in exon 5 of PD-1 gene with susceptibility to HTLV-1 infection and proviral load (PVL) in Iran's population studied. In this case-control study, PD-1 rs2227981 and rs10204525 polymorphisms were evaluated in 81 HTLV-1 asymptomatic carriers (ACs) and 162 healthy individuals (control groups). These polymorphisms were genotyped by Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Moreover, PVL was detected by quantitative real-time PCR (Q-RT-PCR). The results indicated that frequency of GA and AA genotypes in rs10204525 polymorphism was higher in ACs group (82.7%) than control group (26.5%) significantly; and GA + AA genotypes were significantly associated with HTLV-1 infection (OR = 13.244, 95%CI = 6.755-25.968, p = 0.000); but CT + TT genotypes in rs2227981 polymorphism, were as a protective factor against HTLV-1 infection (OR = 0.473, 95%CI = 0.279-0.813, P = 0.009). However, there was no significant difference between these polymorphisms and HTLV-1 PVL.