A case–control study of single-nucleotide variants in microRNA biogenesis genes (AGO1 and GEMIN4) in people with primary immune thrombocytopenia

Abstract

Abstract Background The role of microRNA (miRNA) is to regulate the translation of genes involved in a variety of diseases. Aim of the work This study investigated the relation between the rs636832 and rs2740348 single-nucleotide polymorphisms (SNPs) of the AGO1 gene and the GEMIN4 gene of miRNA biogenesis genes and the risk for primary ITP and the response to therapy. Patients and methods In this case–control study, 100 patients with immune thrombocytopenic purpura from the clinical hematology department and outpatient clinic were compared to 100 control subjects. Patients' blood samples are taken, and DNA extraction and PCR amplification of rs636832 A/G of AGO1 and rs2740348 G/C of GEMIN4 were done on sera and compared to the clinical status of the patients. Results According to statistical analysis, the genotype and allele frequencies of both variants did not differ significantly between cases and controls. The GG genotype was found to be more prevalent in the chronic phase of ITP than the AA and AG genotypes, with a significance level of p 0.05. The GG genotype was found to be more prevalent in the chronic phase of ITP than the AA and AG genotypes, with a significance level of p 0.05. In addition, the GG genotype was more prevalent in ITP patients who did not respond to treatment compared to the AA and AG genotypes, although this difference was not statistically significant. Concerning rs2740348: the CC genotype was more common than the GC genotype in ITP cases that did not respond to treatment and needed a second line of therapy like splenectomy or TPO-RA, but this did not reach statistical significance. Conclusion The rs636832 and rs2740348 SNPs did not appear to be risk factors for ITP; however, the rs636832:GG genotype was more prevalent in older patients, who tend to have the chronic phase of the disease. Although this distinction was not statistically significant, they were less responsive to therapy than the AA and AG genotypes. Concerning rs2740348: the CC genotype was more common than the GC genotype in ITP cases that did not respond to treatment and needed a second line of therapy like splenectomy or TPO-RA, but this did not reach statistical significance.