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Association between rs4938723 polymorphism and the risk of primary open‐angle glaucoma (POAG) in a Chinese population

In this study, we aimed to investigate the association between rs4938723 single‐nucleotide polymorphism (SNP) and the risk of primary open‐angle glaucoma (POAG) in a Chinese population to clarify the molecular mechanism underlying the pathogenesis of POAG. Taqman assays and statistical analyses were utilized to analysis the associations between rs4938723 SNP/rs1042522 SNP and the risk of POAG. Luciferase assays, in‐silicon analyses, real‐time PCR, Western Blot, 3‐[4,5‐dimethylthiazol‐2‐yl]‐2,5 diphenyl tetrazolium bromide (MTT) assay, and flow cytometry were conducted to establish a molecular pathway underlying the protective effect of rs4938723 T > C SNP against the risk of POAG. The maximum intraocular pressure (IOP) was evidently higher in the case group compared with that in the control group. The risk of POAG was evidently decreased among carriers of the CT/CC genotypes under a dominant model. In addition, the risk of POAG was also significantly decreased in the carriers of the CC genotype. In contrary, no significant association was found between the risk of POAG and the rs1042522 SNP in TP53 gene. In addition, rs4938723 (especially rs4938723 T > C) SNP could elevate the transcription efficiency of miR‐34b promoter and the suppression of TP53, a virtual target of miR‐34b. Therefore, the presence of anti‐miR‐34b suppressed cell proliferation and promoted cell apoptosis, thus establishing a molecular mechanism underlying the protective effect of rs4938723 polymorphism T > C against the risk of POAG. Rs4938723 polymorphism T > C could reduce the incidence of POAG by downregulating TP53 expression, thus leading to suppressed cell apoptosis and enhanced cell proliferation.