rs689465

This functional study examined how PTGS2 gene variants in the promoter region and 3'-UTR modulate COX-2 gene expression using luciferase reporter assays in MCF-7 and HEK293FT cells. The rs689466 G variant showed consistent enhancing effects (~2-fold increase in transcriptional activity, P<0.001), while rs20417 C reduced activity by 40% in MCF-7 cells. The 3'-UTR rs5275 variant had variable effects depending on cell line, but the transcriptional effect of rs689466 remained detectable.

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.

A case-control study in Brazilian women investigating the association between PTGS2 (COX-2) gene polymorphisms and breast cancer risk. The study identified nine SNPs in the promoter and 3'-UTR regions, with four frequent SNPs (rs689465, rs689466, rs20417, rs5275) selected for analysis. While rs5275 TC heterozygotes showed increased frequency in cases (OR=1.44, P=0.043), the authors concluded there was no strong association between the most frequent PTGS2 SNPs and breast cancer risk.