Association of polymorphic variants of miRNA processing genes DGCR8 and XPO5 with primary open‐angle glaucoma risk in a Polish population

Abstract

PurposeMany reports suggest the association between altered miRNA level and the pathogenesis of glaucoma. The single nucleotide polymorphisms in genes DGCR8 and XPO5, which are involved in microRNA biogenesis, may be the key factor in this process. The aim of this study was the analysis of the single nucleotide polymorphisms of DGCR8 and XPO5 genes, which are involved in miRNA processing pathway, in relations with primary open‐angle glaucoma (POAG).MethodsThe material used in the experiment was blood obtained from patients affected by primary open‐angle glaucoma and age matched controls. The control groups rs3757 DGCR8 and rs11077 XPO5 consisted of 135 and 140 subjects respectively. The rs3757 DGCR8 study group consisted of 137 patients, while rs11077 XPO5 number of patients was 138.The polymorphic variant frequencies of rs3757 and rs1107 were determined using DNA isolated from the peripheral blood lymphocytes in TaqMan® SNP Genotyping Assays.ResultsThe statistical analysis revealed that the genotype AG of DGCR8 rs3757 occurred more frequently in healthy individuals (p = 0.001), while homozygote GG was present mostly in people affected by primary open‐angle glaucoma (p = 0.003). No association between the risk of POAG and AC/CC genotypes of XPO5 was found.ConclusionsDuring the experiment it was evaluated that genotype AG in rs3757 DGCR8 exhibits protective effect, decreasing the risk of primary open angle glaucoma, while the homozygote GG probably is associated with increased risk of glaucoma. The analysis of polymorphic variants of the genes involved in miRNA biogenesis could enable people classification to high‐risk group. This work was supported by grant NCN no. 2012/05/B/NZ7/02502.