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From SNPedia

Geno Mag Summary
(A;A) 0 normal
(A;G) 1.2 1.2x higher risk for inflammatory bowel diseases
(G;G) 1.4 1.4x higher risk for inflammatory bowel diseases
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs689466
23andMe allrs689466
SNP Nexus

GWAS Ctlgrs689466
Max Magnitude1.4
? (A;A) (A;G) (G;G) 28
rs689466 is a SNP in the COX-2 gene, also known as the prostaglandin-endoperoxide synthase 2 PTGS2 gene.

A Scottish and Danish case-control study including 732 Crohn's disease (CD) cases, 973 ulcerative colitis (UC) cases, and 1157 healthy controls found that the rs689466(G) allele was associated with higher risk for ulcerative colitis and inflammatory bowel disease, especially among those who never smoked. The reported odds ratios were 1.25 and 1.47, rspectively. This allele was also associated with younger age at diagnosis and with extensive ulcerative colitis.[PMID 20803508]

[PMID 19748095] Associations between COX-2 polymorphisms, blood cholesterol and risk of acute coronary syndrome

[PMID 20177132] COX-2 is Associated with Periodontitis in Europeans

[PMID 20431935OA-icon.png] Polymorphisms in inflammatory genes, plasma antioxidants, and prostate cancer risk

[PMID 21124790OA-icon.png] The Functional -765G?C Polymorphism of the COX-2 Gene May Reduce the Risk of Developing Crohn's Disease

[PMID 21283657OA-icon.png] Gallbladder Cancer Predisposition: A Multigenic Approach to DNA-Repair, Apoptotic and Inflammatory Pathway Genes

[PMID 17171651] Cyclooxygenase-2 polymorphisms in Parkinson's disease.

[PMID 18085997] Pyrosequencing of polymorphisms in the COX-2 gene (PTGS2) with reported clinical relevance.

[PMID 18768181OA-icon.png] Association of polymorphisms in cyclooxygenase (COX)-2 with coronary and carotid calcium in the Diabetes Heart Study.

[PMID 19223558OA-icon.png] Polymorphic variation in NFKB1 and other aspirin-related genes and risk of Hodgkin lymphoma.

[PMID 19318492OA-icon.png] Dietary omega-3 fatty acids, cyclooxygenase-2 genetic variation, and aggressive prostate cancer risk.

[PMID 19437564OA-icon.png] No association between cyclooxygenase-2 and uridine diphosphate glucuronosyltransferase 1A6 genetic polymorphisms and colon cancer risk.

[PMID 19930591OA-icon.png] Polymorphisms in the xenobiotic transporter Multidrug Resistance 1 (MDR1) and interaction with meat intake in relation to risk of colorectal cancer in a Danish prospective case-cohort study.

[PMID 21042835] Functional polymorphisms of cyclooxygenase-2 gene and risk for hepatocellular carcinoma.

[PMID 21168919] No influence of PTGS2 polymorphisms on response and remission to antidepressants in major depression.

[PMID 21304218] Cyclooxygenase-2 polymorphisms and susceptibility to esophageal cancer: a meta-analysis.

[PMID 21538574] Interaction of cyclooxygenase-2 promoter polymorphisms with Helicobacter pylori infection and risk of gastric cancer.

[PMID 21649724] Variation in human genetic polymorphisms, their association with Helicobacter pylori acquisition and gastric cancer in a multi-ethnic country.

[PMID 21848701] Functional genetic variations of cyclooxygenase-2 and susceptibility to acute myeloid leukemia in a Chinese population.

[PMID 21926110OA-icon.png] Population-specific genetic associations with oesophageal squamous cell carcinoma in South Africa.

[PMID 22037828] Polymorphisms in cycloxygenase-2 gene and breast cancer prognosis: association between PTGS2 haplotypes and histopathological features.

GET Evidence
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.171875

[PMID 23620771OA-icon.png] The Association between COX-2 Polymorphisms and Hematologic Toxicity in Patients with Advanced Non-Small-Cell Lung Cancer Treated with Platinum-Based Chemotherapy

[PMID 23907768] Cyclooxygenase-2 Genetic Polymorphism and Stroke Subtypes in Chinese

[PMID 24194923OA-icon.png] Interactions between Diet, Lifestyle and IL10, IL1B, and PTGS2/COX-2 Gene Polymorphisms in Relation to Risk of Colorectal Cancer in a Prospective Danish Case-Cohort Study

[PMID 23029430OA-icon.png] Prognostic role of host cyclooxygenase and cytokine genotypes in a Caucasian cohort of patients with gastric adenocarcinoma.

[PMID 23777936] Influence of Cyclooxygenase-2 (COX-2) gene promoter-1195 and allograft inflammatory factor-1 (AIF-1) polymorphisms on allograft outcome in Hispanic kidney transplant recipients.

[PMID 23852948] Cyclooxygenase 2 genetic polymorphism may increase the risk of developing leukoaraiosis in Chinese.

[PMID 24789723] Cyclooxygenase-2 Polymorphisms and Breast Cancer Associated Risk in Pakistani Patients

[PMID 25166592OA-icon.png] Intestinal PTGS2 mRNA Levels, PTGS2 Gene Polymorphisms, and Colorectal Carcinogenesis

[PMID 25214704OA-icon.png] Association of the Three Common SNPs of Cyclooxygenase-2 Gene (rs20417, rs689466, and rs5275) with the Susceptibility of Breast Cancer: An Updated Meta-Analysis Involving 34,590 Subjects

[PMID 26276523] Association between variants in inflammation and cancer-associated genes and risk and survival of cholangiocarcinoma

[PMID 26550156] Cyclooxygenase-2 -1195G>A (rs689466) polymorphism and cancer susceptibility: an updated meta-analysis involving 50,672 subjects

[PMID 26391267] Population, Epidemiological, and Functional Genetics of Gastric Cancer Candidate Genes in Peruvians with Predominant Amerindian Ancestry.