rs4938723

Case-control study of 366 POAG patients and 352 controls in a Chinese population found that rs4938723 C/T polymorphism in the miR-34b promoter is associated with reduced primary open-angle glaucoma (POAG) risk. CT/CC genotypes showed significantly decreased POAG risk (OR 1.89, 95% CI 1.40-2.54, p<0.0001), while CC homozygotes had the strongest protective effect (OR 2.28, p=0.0029). Functional studies demonstrated that the C allele increases miR-34b promoter activity and suppresses TP53 expression, reducing retinal ganglion cell apoptosis.

This comprehensive review analyzes microRNA-related single nucleotide polymorphisms (SNPs) in gastric cancer, focusing on the most commonly studied variants including pre-miR-146a rs2910164, pre-miR-196a2 rs11614913, pre-miR-149 rs2292832, and pre-miR-499 rs3746444. The paper reviews 45 studies examining associations between miRNA polymorphisms and gastric cancer risk, including 18 studies on rs2910164 showing conflicting results (OR range 0.81-1.58), 13 studies on rs11614913 with no overall significant association, and analysis of pri-miRNA, pre-miRNA, promoter, and 3'-UTR variants. Additional variants identified include rs712 in let-7 (OR = 3.05; 95% CI = 1.53-6.08), rs12904 in miR-200c (OR = 0.65; 95% CI = 0.50-0.85), and rs12537 in miR-181a (OR = 1.72; 95% CI = 1.36-2.16).

Case-control study of 286 HCC patients and 572 controls in a Chinese population found that the TC and CC genotypes of pri-miR-34b/c rs4938723 were significantly associated with increased hepatocellular carcinoma risk (TC: OR = 1.46, 95% CI = 1.06-2.01; CC: OR = 3.07, 95% CI = 1.77-5.34; recessive model CC: OR = 2.50, 95% CI = 1.49-4.22).

Literature review of non-coding RNAs (microRNAs and long non-coding RNAs) in hepatocellular carcinoma pathogenesis, covering their diagnostic, prognostic, and therapeutic potential. Reviews aberrant miRNA expression patterns including upregulation of miR-21, miR-155, miR-221/222 and downregulation of miR-26a, miR-29, miR-122, and discusses polymorphisms in miRNA genes associated with HCC risk in Chinese and Turkish populations.