rs6505162

This four-center case-control study examined associations between H19 gene polymorphisms and Wilms tumor risk in 355 Chinese children with Wilms tumor and 1,070 cancer-free controls. Three H19 polymorphisms (rs2839698 G>A, rs3024270 C>G, rs217727 G>A) were significantly associated with Wilms tumor susceptibility. The rs2839698 AA genotype showed OR=1.52 (p=0.027) for increased risk, rs3024270 CG showed protective effect OR=0.61 (p=0.0007), and carriers of multiple risk genotypes had OR=1.84 (p=0.001) for 2 risk genotypes.

This is a review of microRNA (miRNA) regulome dysregulation in atherosclerosis phenotypes. The paper summarizes studies on miRNA expression changes, DNA methylation in miRNA genes, and associations between single nucleotide polymorphisms (SNPs) in miRNA genes with atherosclerotic complications including coronary artery disease (CAD), myocardial infarction (MI), and ischemic stroke (IS). Key SNPs studied include rs2910164 (MIR146A) and rs3746444 (MIR499A/B), though results are often contradictory across different populations, with heterogeneous sample sizes ranging from 100-100K individuals.

A case-control study of 878 colorectal cancer patients and 884 controls in a Han Chinese population found that SNP rs2682818 (C>A) in the miR-618 gene was associated with decreased CRC susceptibility. The AA and AC/AA genotypes showed protective effects with OR=0.54 (95% CI=0.37-0.79) and OR=0.82 (95% CI=0.68-0.99), respectively, compared to the CC genotype.

Two miRNA genetic variants were identified as significantly associated with cardiometabolic phenotypes: rs11614913 in miR-196a2 associated with waist-to-hip ratio (P=1.7e-25), and rs174561 in miR-1908 associated with lipid and glucose traits. Functional analyses revealed these variants affect pre-miRNA processing and regulate target genes involved in fat distribution and lipid metabolism.

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).

Hospital-based case-control study in a Chinese Han population investigating SNPs in microRNA network genes and gastric cancer risk. The study genotyped 19 SNPs in 311 cases and 425 controls, identifying two significant associations: rs2071504 in POLR2A (OR=0.742, p=0.033) and rs895819 in miR-27a (OR=0.771, p=0.037), both showing protective effects against gastric cancer. The rs2071504 variant was additionally associated with lymph node metastasis (p=0.021) and TNM stage (p=0.021).

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.

This PhD thesis presents a comprehensive study of microRNA (miRNA) SNPs and their association with breast cancer risk in Australian Caucasian populations. The study identified three key findings: rs2910164 in MIR146A showed significant association (p=0.03 and p=0.00013 in two populations); rs353291 in MIR145 showed significant differences in allele frequencies (p=0.041 and p=0.023); and rs4284505/rs7336610 in the MIR17HG cluster showed significant association with protective effect (OR=0.75, 95% CI: 0.60-0.94, p=0.012).

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.