rs10719

A case-control study of 237 Brazilian women with endometriosis found that the LEPR rs1137100 A>G polymorphism is significantly associated with increased risk of chronic pelvic pain (OR=1.75; 95% CI=1.05-2.89) and dyspareunia (OR=1.78; 95% CI=1.01-3.12). The LEP rs7799039 G>A polymorphism showed no significant association with endometriosis-related painful symptoms.

This PhD thesis investigated pharmacogenetics of microRNAs and immune system genes in locally advanced rectal cancer (LARC) patients treated with neoadjuvant chemoradiotherapy. In 265 LARC patients, five SNPs were identified as predictive biomarkers of pathological response: DROSHA-rs10719 (OR=1.87, p=0.0274) and SMAD3-rs17228212 (OR=2.01, p=0.0049) were unfavorable, while SMAD3-rs744910 (OR=0.45, p=0.0153), SMAD3-rs745103 (OR=0.48, p=0.0471), and TRBP-rs6088619 (OR=0.39, p=0.0125) were protective. In 235 LARC patients, three prognostic biomarkers for 2-year disease-free survival were identified: IL17F-rs641701 (HR=3.23, p=0.003), IL17F-rs9463772 (HR=2.89, p=0.002), and STAT3-rs8069645 (HR=0.50, p=0.044).

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).

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.