The genetic background of an individual plays an important role in the progression of HIV infection to AIDS. Identifying previously unknown or uncharacterized single nucleotide polymorphisms (SNPs) that associate with disease progression may reveal important therapeutic targets and provide a greater understanding of disease pathogenesis. In the present study, we employed ultra-high multiplex PCR on an Ion Torrent next-generation sequencing platform to sequence 23 innate immune genes from 94 individuals with HIV/AIDS. This data was used to identify potential associations of SNPs with clinical parameters and disease progression. SNPs that associated with an increased viral load were identified in the genes for the interleukin 15 receptor (IL15RA), toll-like receptor 7 (TLR7), tripartite motif-containing protein 5 (TRIM5), and two killer-cell immunoglobulin-like receptors (KIR2DL1 and KIR2DL3). Additionally, SNPs that associated with progression from HIV infection to AIDS were identified in two 2′-5′-oligoadenylate synthetase genes (OAS2 and OAS3). In contrast, other SNPs identified in OAS2 and OAS3 genes, as well as in the TRIM5 and KIR2DS4 genes, were associated with a slower progression of disease. Taken together, our data demonstrates the utility of ultra-high multiplex PCR in identifying polymorphisms of potential clinical significance and further,identifies SNPs that may play a role in HIV pathogenesis.
The aim of the investigation was to assess the prognostic value of polymorphism of genes encoding 2',5'-oligoadenylate synthetase (OAS) synthesis in HIV infection.Materials and Methods. The DNA of 94 HIV infected patients have been sequenced using multiplex polymerase chain reaction. For molecular genetic testing we used DNA samples isolated from the scraping of oral epithelial cells. We studied interferon-induced genes, namely: OAS enzyme. It was a case-control study. Depending on the decrease rate of CD4-lymphocytes, the patients were divided into two groups: with typical disease progression and those with slow progression. We determined the frequencies of mutant alleles and genotypes in patients with different progression rates, and assessed genotype associations with different outcomes.Results. There have been found oligonucleotide polymorphisms of OAS genes of different enzyme forms: OAS2 rs2072137 (chr12:113440921) and OAS3 rs1859330 (chr12:113376388). The frequency of mutant allele C of OAS2 rs2072137 polymorphism appeared to be significantly higher in a group with a typical disease progression (p=0.03). The frequency of mutant allele А of OAS3 rs1859330 polymorphism had no difference in the groups. In a group with mutant genotypes ТС and СС of OAS2 rs2072137 polymorphism, the frequency of typical disease progression was significantly higher than that in the group with the main ("wild") genotype ТТ (p=0.0125). Logistic regression revealed typical HIV infection progression in patients to be significantly associated with OAS2 rs2072137 polymorphism and age.Conclusion. OAS2 rs2072137 polymorphism is associated with typical progressive HIV infection, and, probably, presents a new genetic prognostic marker of the disease.
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