rs2910164

This case-control study of 458 neonates (216 with sepsis, 242 controls) identified an association between rs41274221 polymorphism in the seed sequence of microRNA-25 and neonatal sepsis risk (OR=1.48, 95% CI=1.03-2.14, p=0.03). Functional studies confirmed that CD69 is a direct target of miR-25, with the polymorphism affecting the miR-25/CD69 regulatory axis, which influences IFN-γ production and immune response in neonates.

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 association study of 50 Saudi women with recurrent pregnancy loss (RPL) and 50 healthy controls examined six microRNA gene polymorphisms. Significant associations were found for miR-146a C>G (rs2910164, OR=2.29, 95% CI: 1.02-5.18, p=0.046) and miR-149 T>C (rs2292832, OR=2.67, 95% CI: 1.08-6.61, p=0.034) in heterozygous genotypes, with higher frequency in RPL patients compared to controls. Other polymorphisms (miR-10, miR-125, miR-323b, miR-499) showed no significant association with RPL.

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.

Case-control study in Chinese Han population of 381 ESCC cases and 426 controls examining microRNA-related SNPs. Variant rs11614913 (TT genotype) in miR-196a-2 was associated with reduced ESCC risk (OR=0.62, 95% CI: 0.39-0.99), as was rs1595066 (AA genotype) in ErbB4 (OR=0.38, 95% CI: 0.24-0.61). Haplotype analysis identified protective and risk haplotypes in ErbB4 involving rs1595066 and rs16845990. Gene-environment interaction analysis identified family history and smoking as important ESCC risk factors.

A two-stage association study in Chinese Han populations found that the TT genotype and T allele of rs11614913 in pre-miRNA-196a2 confer increased risk for Behcet's disease (combined OR=1.53, p=6×10⁻⁵), particularly in patients with arthritis manifestations (OR=1.89, p=5.3×10⁻³). Functional validation showed decreased miR-196a expression and increased Bach1 expression in TT carriers, leading to enhanced pro-inflammatory cytokine production (IL-1β and MCP-1). The variant did not associate with Vogt-Koyanagi-Harada syndrome or acute anterior uveitis in ankylosing spondylitis.

This mini-review examines the role of EBV-encoded BART-miRNAs and dysregulated cellular miRNAs in nasopharyngeal carcinoma (NPC) development. EBV-encoded miRNAs suppress host immune responses and promote carcinogenesis by targeting genes controlling proliferation and apoptosis. Dysregulated cellular miRNAs function as oncogenes or tumor suppressors, affecting invasion, metastasis, and chemo-radiotherapy sensitivity. The SNP rs2910164 C>G in miR-146a is associated with NPC predisposition in Chinese populations, and rs4919510 C>G in miRNA-608 may predict locoregional recurrence in radiotherapy-treated patients.

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).

This case-control study examined the association between miR-146a rs2910164 polymorphism and colorectal cancer (CRC) susceptibility in a Chinese population of 1,147 cases and 1,203 controls. The study found that the GC/CC genotypes were significantly associated with reduced CRC risk (adjusted OR = 0.78, 95% CI = 0.66-0.93) compared to GG homozygotes. The protective effect was more pronounced in non-smokers, non-drinkers, older subjects, and those without family history of cancer. A meta-analysis of 29 studies (15,398 cases and 18,564 controls) found no significant overall association in the allelic model but showed ethnicity-specific effects.

This case-control study of 717 Han Chinese subjects (251 acute-on-chronic hepatitis B liver failure [ACLF-HBV] cases, 466 chronic hepatitis B controls) found that the rs2910164 GG genotype in the miR-146a gene is protective against ACLF-HBV (OR=0.496, 95% CI=0.309-0.797, P=0.004), while CG and CC genotypes increase risk (OR=2.127 and OR=1.878, respectively). The GG genotype is associated with higher mature miR-146a expression in peripheral blood mononuclear cells, lower serum TNFα levels, and higher 4-month survival rates (57.69% vs 27-34% for other genotypes).

This case-control study of 214 rheumatoid arthritis patients and 478 controls in a Chinese population found that the IRAK1 rs3027898 AA genotype was associated with significantly increased risk of RA (OR=1.91, 95% CI=1.12-3.26, p=0.017), with stronger effects in females, younger patients, and CRP-negative patients. The hsa-mir-499 rs3746444 T/C polymorphism showed no significant association with RA risk.

This case-control study of 353 Chinese colorectal cancer (CRC) patients and 540 healthy controls investigated associations between four pre-miRNA SNPs and CRC risk. rs11614913 T allele and CT/TT genotypes showed increased CRC risk (OR=1.99, 7.34, 13.66 respectively), while rs2910164 C allele was protective (OR=0.80). rs3746444 and rs2292832 showed no significant associations.

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 study evaluated whether the rs2910164:G>C SNP in the MIR146A gene is associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Analysis of 1,166 BRCA1 and 560 BRCA2 carriers found no significant association between rs2910164 genotype and breast cancer risk or age of onset (OR ~1.00 in both groups). The findings contradict earlier preliminary results suggesting the variant modifies cancer risk in BRCA carriers.

Meta-analysis of 24 case-control studies (7,591 cases, 9,677 controls) examining the association between miR-146a rs2910164 G>C polymorphism and autoimmune diseases susceptibility. In Caucasian populations, the heterozygous GC genotype and dominant GC+CC genotype showed increased risk (GC vs GG: OR=1.38, p=0.024; GC+CC vs GG: OR=1.37, p=0.041). In other disease subgroups, the C allele, CC genotype, and dominant model showed increased risk (C vs G: OR=1.16, p=0.010; CC vs GG: OR=1.42, p=0.006; GC+CC vs GG: OR=1.25, p=0.020).

Meta-analysis of 11 case-control studies examining microRNA polymorphisms and oral squamous cell cancer (OSCC) risk. The microRNA-499 rs3746444 G allele showed strong association with increased OSCC risk (allele model OR=1.57, 95% CI=1.318-1.871, P<0.001; recessive model OR=3.165, 95% CI=1.777-5.637, P<0.00001). microRNA-146a rs2910164 showed weak protective effect in recessive model (CC genotype OR=0.874, 95% CI=0.768-0.994, P=0.041). No significant associations found for microRNA-196a2 rs11614913 or microRNA-149 rs2292832.

This PhD thesis presents three case-control association studies of microRNA SNPs in Australian Caucasian breast cancer populations. Study 1 found rs2910164 (MIR146A) significantly associated with sporadic breast cancer risk (OR: 1.774; 95% CI: 1.402-2.237; p=0.000001 combined). Study 2 identified rs353291 (MIR145) as associated with breast cancer (allelic p=0.041 GRC-BC, p=0.023 GU-CCQ BB; OR: 1.37 and 1.25 respectively). Study 3 found rs4284505 (MIR17HG) associated with reduced breast cancer risk (p=0.01 GRC-BC, p=0.03 GU-CCQ BB; OR: 0.70 and 0.79), with the rs4284505/rs7336610 haplotype AC conferring 25% reduced risk (OR: 0.75; 95% CI: 0.60-0.94; p=0.012).

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.

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.

A G>C polymorphism (rs2910164) in the miR-146a precursor was found to be associated with prostate cancer risk in a southern Chinese Han population (251 cases, 280 controls). CC homozygotes had a 0.65-fold reduced risk (OR=0.65, 95% CI=0.43-0.99, P=0.03) compared to GG/GC carriers, and the C allele showed reduced prevalence of prostate cancer (OR=0.73, 95% CI=0.57-0.94, P=0.01). Expression analysis showed CC carriers had significantly decreased mature miR-146a levels in prostate cancer tissues.

Hospital-based case-control study of 1,109 SCCHN cases and 1,130 controls examining genetic variants in four pre-miRNA genes. The hsa-mir-499 A>G variant (rs3746444) showed protective associations with reduced head and neck cancer risk (AG genotype OR=0.80, p=0.023). A combined risk genotype analysis showed increased risk with 4 risk genotypes (OR=1.40, p=0.040). Other pre-miRNA variants (hsa-mir-146a, hsa-mir-149, hsa-mir-196a2) showed no significant associations.

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).

This cross-sectional study of 288 coke oven workers examined gene-environment interactions between FEN1 rs174538 polymorphism and polycyclic aromatic hydrocarbon (PAH) exposure, measured by urinary 1-OH-pyrene levels, on DNA damage in EGFR gene exons 19 and 21. The study found significant linear associations between PAH exposure and EGFR exon damage (P trend < 0.001 for both exons), which were modified by FEN1 rs174538 genotype—the associations were significant only in GA+AA carriers (P < 0.001) but not in GG carriers, suggesting genetic susceptibility influences PAH-induced DNA damage.