Innovations in immunology: associations of genetic variations on the PTPRC gene with HIV-1 pathogenesis and AIDS

Modern research demonstrates that genetic variations can change everything from HIVsusceptibility and corporeal pathogenesis to treatment response. Studies of the human genomehave led to the development of large data banks for single nucleotide polymorphisms (SNPs)linked to various immune traits. In this experiment, genotyping by quantitative real-timepolymerase-chain-reaction (QRTPCR) is used to find associations between patient genotypes forindividual SNPs and their HIV/AIDS pathogenesis. This study examines SNPs rs17612648 andrs113116201 protein tyrosine phosphatase receptor type C (PTPRC). rs1761264 is associatedwith CD8+ memory cell differentiation and presentation of the CD45 protein intracellularly andis hypothesized to increase the time of initial HIV infection. rs113116201 is associated withEMRA T cell differentiation and increases the proportion of the isoform CD45RA and ishypothesized to decrease the number of white cells that are susceptible to HIV infection. Aftercontrolling for age, sex, and viral load, Kaplan Meier survival and Cox regression analyses wereperformed to examine the effects of the SNPs on patient progression rate to AIDS1993 (1992Center for Disease Control and Prevention definition of AIDS). No statistically significantresults have been produced for alleles corresponding to rs113116201 in Europeans nor AfricanAmericans, but results indicate that the heterozygous allele of rs17612648 inEuropean-Americans experiences accelerated progression to AIDS(HR=1.26,95%CI=0.714-2.246, P= 0.365 ), and additionally, African-Americans with said alleleexpressed experience a much faster progression to AIDS (HR=2.33,95%CI=0.688-7.916,P= 0.033 ). Owing to a P-value below an alpha of 0.05 but very high hazard values, upperintervals, and a lack of samples of heterozygous and homozygous mutant alleles (all n<50), nosignificant association can be made between the SNPs’ presences and altered pathogenesis. Dueto these factors, both SNPs warrant further research.