rs895819

This case-control study of 409 DLBCL patients and 477 controls in a Chinese population found that rs895819 AG/GG genotypes in pre-miR-27a were associated with significantly reduced DLBCL risk (adjusted OR=0.70-0.73, P=0.0044). The G allele reduced mature miR-27a expression, leading to elevated TGFBR1 levels and inhibition of DLBCL development. Functional studies confirmed miR-27a targets TGFBR1 and regulates DLBCL cell proliferation, migration, and apoptosis.

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.

This case-control association study of 508 colorectal cancer cases and 562 healthy controls in a Han Chinese population found that the GG genotype of rs895819 within miR-27a was significantly associated with increased CRC risk (adjusted OR = 1.546, 95% CI = 1.070-2.236), while allele A carriers (AA/AG) showed decreased risk (adjusted OR = 0.63, 95% CI = 0.446-0.893). The GG genotype was also associated with larger tumor size (>5 cm) and higher TNM stage III.

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.

A two-stage case-control study in a Chinese Han population examined 820 Behçet's disease (BD) and 900 VKH syndrome patients versus 1,800 controls. The miR-182/rs76481776 SNP showed significantly decreased CC genotype and C allele frequencies in BD (OR=0.55-0.58, P=3.36×10⁻⁴ to 3.25×10⁻⁷) and VKH patients (OR=0.53-0.57, P=1.11×10⁻⁴ to 7.89×10⁻⁸). Other SNPs in miR-27a, FoxO1, and IL2RA showed no significant associations. Functional analysis revealed increased miR-182 expression in TT/CT genotypes compared to CC in anti-CD3/CD28 antibody-stimulated CD4+ T cells (P=2.1×10⁻²).

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).

A cohort study of 940 gastric adenocarcinoma patients examined the association between TP53 codon 72 polymorphism (rs1042522, Arg72Pro) and MDM2 SNP309 (rs2279744) with survival outcomes. TP53 codon 72 polymorphism was significantly associated with poor survival in patients receiving 5-fluorouracil-based postoperative chemotherapy (adjusted HR=1.63, 95% CI=1.08-2.44), with particularly strong associations in the FOLFOX regimen (adjusted HR=4.47, 95% CI=1.21-16.55). MDM2 SNP309 showed no significant association with survival.

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).

This comprehensive review examines genetic association studies on prostate cancer, discussing GWASs that have identified over 75 variants associated with PCa risk (as of February 2016), with major susceptibility regions at 8q24, 17q12, 17q24, 10q11, and 19q13. The paper also reviews candidate gene-based approaches targeting genes involved in androgen signaling, carcinogen metabolism, DNA repair, vitamin D signaling, inflammation, angiogenesis, and cellular adhesion, as well as regulatory RNA genes.

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).

A case-control study in an Iranian population (100 cases, 100 controls) found that the rs2682818 polymorphism in miR-618 is associated with increased breast cancer risk, with the A allele showing significantly elevated frequency in patients (56% vs. 30% in controls) and an odds ratio of 2.97 (P=0.0003).