rs3218625

This case-control association study identified rs10483032 in the CBR3 gene as associated with type 2 diabetes and insulin resistance in Chinese populations (combined OR = 1.29, 95% CI = 1.14-1.47, P < 0.0001). The association was replicated in multiple Chinese samples and validated in the FUSION GWAS. Functional studies demonstrated CBR3 expression increases during adipocyte differentiation, and CBR3 knockdown enhanced adipogenesis, suggesting the risk variant modulates type 2 diabetes susceptibility through effects on adipogenesis and insulin sensitivity.

This review examines COX-2 (PTGS2) genetic variants and their association with gastric cancer susceptibility. Key variants include rs689466 (OR=1.19, p=0.002), rs20417 (OR=1.26, p<0.001), rs3218625 (OR=1.62, p=0.039), and rs5275 (OR=1.14, p=0.030), which increase gastric cancer risk through enhanced transcriptional activity or mRNA stability. The paper synthesizes data from multiple case-control studies and the authors' own analyses in Chinese populations (296-660 cases each), establishing COX-2 polymorphisms as potential biomarkers for cancer risk stratification.

This case-control study identified a novel COX-2 exon 10 SNP (1759G>A, rs3218625) that causes a Gly587Arg amino acid substitution. Functional assays demonstrated that COX-2-587Arg has significantly higher enzymatic activity toward arachidonic acid (13.8 vs 11.2 U/mg, P=0.012). In 1,026 esophageal squamous-cell carcinoma patients and 1,270 controls, individuals carrying the 1759A allele had increased ESCC risk (OR=1.91, 95% CI=1.39-2.62, P<0.0001), with heterozygotes showing an OR of 1.87 (95% CI=1.36-2.57).