rs4648298
This is a 3 prime utr variant variant in the PTGS2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (2)
▶Interaction of Cyclooxygenase‐2 promoter polymorphisms with Helicobacter pylori infection and risk of gastric cancerReviewN=1,320Xuemei Zhang et al.(2011)· Molecular Carcinogenesis
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.
▶Cyclooxygenase‐2 polymorphisms in Parkinson's diseaseAssociationN=591Anna Håkansson et al.(2007)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
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.
About PTGS2
Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis. [provided by RefSeq, Feb 2009]
View all PTGS2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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