rs1640299

Meta-analysis of 21 case-control studies examining associations between SNPs in five miRNA biogenesis pathway genes (DROSHA, DGCR8, XPO5, RAN, DICER1) and human cancer risk. Significant associations found with DGCR8 rs417309G>A (OR 1.22, 95% CI 1.04-1.42) and DICER1 rs1057035T>C (OR 1.13, 95% CI 1.05-1.22), with stronger effects in Asian populations. No significant associations observed for DROSHA rs10719, XPO5 rs11077, or RAN variants.

This systematic review and meta-analysis examined associations between SNPs in miRNA biosynthesis genes DROSHA and DGCR8 and cancer risk across 10 case-control studies (4,265 cases, 4,349 controls). The DGCR8 rs417309 SNP showed significant association with elevated overall cancer risk across all genetic models. DROSHA rs10719 and rs6877842 SNPs were associated with cancer risk in specific populations (Asian populations and laryngeal cancer, respectively).

A case-control study of 136 oral premalignant lesion (OPL) patients and 136 matched controls examined 31 SNPs in microRNA biogenesis pathway genes. The variant allele of rs7372209 in mir26a-1 increased OPL risk (OR 2.09, 95% CI 1.23-3.56), as did rs3742330 in DICER (OR 2.09, 95% CI 1.03-4.24), while rs197412 in GEMIN3 reduced risk (OR 0.58, 95% CI 0.33-0.99). A combined analysis of five SNPs with borderline significant associations showed a dramatic cumulative effect on OPL risk (P for trend <0.0001), with the high-risk group having 21-fold increased odds.

Meta-analysis of 10 case-control studies (4,265 cancer cases, 4,349 controls) examining seven SNPs in miRNA biosynthesis genes DROSHA and DGCR8 showed that DGCR8 rs417309 (G/A) was significantly associated with increased cancer risk (OR=3.169, 95%CI=1.63-6.146 for AA vs GG; OR=3.026, 95%CI=1.574-5.817 for recessive model), while DROSHA rs10719 and rs6877842 showed associations in Asian and laryngeal cancer subgroups.

This study evaluated 40 SNPs in microRNA-related genes for associations with colorectal cancer prognosis in 426 Korean patients. In univariate analysis, mir492 C>G (rs2289030) was significantly associated with progression-free survival (PFS 70.8% for C/C vs 62.6% for C/G vs 60.3% for G/G, P=0.0426), but no associations remained significant in multivariate analysis. The authors concluded that none of the 40 miRNA-related gene polymorphisms tested were independent prognostic markers for surgically resected colorectal cancer.