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From SNPedia

Geno Mag Summary
(G;G) 0 common/normal
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs20417
1000 genomesrs20417
23andMe allrs20417
GWAS Ctlgrs20417
Max Magnitude0
? (C;C) (C;G) (G;G) 28

rs20417, also known as -765G>C (and -899G >C in some older publications), is a SNP in the Prostaglandin endoperoxidase synthase 2 PTGS2 gene on chromosome 1.

[PMID 21063235OA-icon.png] A 2012 review of three of the most studied PTGS2 gene variants concluded the following about rs20417:

  • The C variant is associated with lower promoter activity compared with the G variant;
  • The C variant is found in a haplotype with -1195G>A (rs689466) in Pima Indians, Chinese Asians, and Australian Caucasians, and with -1290A>G (rs689465) in a Caucasian Australian population;
  • The epidemiological relevance of rs20417 is unclear and/or conflicting despite numerous studies (and this includes studies of myocardial infarction, diabetes, asthma, various cancers, and the use of NSAIDs to reduce coronary heart disease risk).

[PMID 12920574] In a group of Pima Indians, individuals with the variant PTGS2 rs20417 CC genotype had a 30% higher Type 2 diabetes prevalence compared with subjects with the GG genotype

[PMID 19488068] rs20417 was not found to be associated with prostate cancer in a large case-control study (n(cases)=1608, n(controls)=3058), nor in a meta-analysis of 3 other studies.

[PMID 19455278] Functional polymorphisms of the cyclooxygenase (PTGS2) gene and risk for gallbladder cancer in a North Indian population

[PMID 19468846] Effect of COX2 -765G>C and c.3618A>G polymorphisms on the risk and survival of sporadic colorectal cancer

[PMID 19488068] PTGS2-899G>C and prostate cancer risk: a population-based nested case-control study (ProtecT) and a systematic review with meta-analysis

[PMID 19046748OA-icon.png] Variation in eicosanoid genes, non-fatal myocardial infarction and ischemic stroke

[PMID 20033767] Current evidence on the relationship between polymorphisms in the COX-2 gene and breast cancer risk: a meta-analysis

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

[PMID 20299798] Functional rs20417 SNP (-765G>C) of Cyclooxygenase-2 Gene Does Not Predict the Risk of Recurrence of Ischemic Events in Coronary Patients: Results of a 7-Year Prospective Study

[PMID 20378913] The (-765 G->C) promoter variant of the COX-2/PTGS2 gene is associated with a lower risk for end-stage hip and knee osteoarthritis

[PMID 20472470] Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 Polymorphisms on 90-Day Ischemic Stroke Functional Outcome: A Novel Finding

[PMID 20686383] Cyclooxygenase-2 gene polymorphisms and risk of cervical cancer in a North Indian population

[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 22763923] Association of COX-2 rs20417 with aspirin resistance

[PMID 16046815OA-icon.png] Data-mining analysis suggests an epigenetic pathogenesis for type 2 diabetes.

[PMID 16205694OA-icon.png] Allellic variants in regulatory regions of cyclooxygenase-2: association with advanced colorectal adenoma.

[PMID 16879213] Polymorphisms of prostaglandin-endoperoxide synthase 2 gene, and prostaglandin-E receptor 2 gene, C-reactive protein concentrations and risk of atherothrombosis: a nested case-control approach.

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

[PMID 17181859OA-icon.png] Genetic polymorphisms in the cyclooxygenase-2 gene, use of nonsteroidal anti-inflammatory drugs, and breast cancer risk.

[PMID 17214885OA-icon.png] A polymorphism in the 3' untranslated region of the gene encoding prostaglandin endoperoxide synthase 2 is not associated with an increase in breast cancer risk: a nested case-control study.

[PMID 17234302] Association of prostaglandin-endoperoxide synthase 2 (PTGS2) polymorphisms and Alzheimer's disease in Chinese.

[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 18787196OA-icon.png] Segment-specific genetic effects on carotid intima-media thickness: the Northern Manhattan study.

[PMID 18974063] COX-2 promoter polymorphisms and the association with prostate cancer risk in South African men.

[PMID 19197984OA-icon.png] Cyclooxygenase-2 gene polymorphisms reduce the risk of oral premalignant lesions.

[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 19625268] The influence of COX-2 single nucleotide polymorphisms on abdominal aortic aneurysm development and the associated inflammation.

[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 20406895OA-icon.png] Genetic variants in inflammation pathway genes and asthma in glioma susceptibility.

[PMID 20599859] Association of -765G>C polymorphism of the COX-2 gene with recurrent embryo implantation failure in Southern Chilean women.

[PMID 20803508] Cyclooxygenase-2 (COX-2) polymorphisms and risk of inflammatory bowel disease in a Scottish and Danish case-control study.

[PMID 20811626OA-icon.png] Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.

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

[PMID 21114363] A polymorphism in the cyclooxygenase 2 gene in type 1 diabetic patients with nephropathy.

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

[PMID 22023987] Polymorphisms in COX-2 gene influence prostate cancer susceptibility in a northern Indian cohort.

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

[PMID 22100366] Cyclooxygenase-2 -765G>C polymorphism is associated with C-reactive protein levels in resistant smokers but not in chronic obstructive pulmonary disease patients.

[PMID 22487732] Influence of COX-2 and OXTR polymorphisms on treatment outcome in treatment resistant depression.

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

[PMID 24022467OA-icon.png] COX-1 (PTGS1) and COX-2 (PTGS2) polymorphisms, NSAID interactions, and risk of colon and rectal cancers in two independent populations

[PMID 23765972] Interaction between ALOX5AP-SG13S114A/T and COX-2-765G/C increases susceptibility to cerebral infarction in a Chinese population

[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 24324075] Associations of Cyclooxygenase 2 Polymorphic Genotypes with Bladder Cancer Risk in Taiwan

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

[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 25721048OA-icon.png] Genetic variants in TNFα, TGFB1, PTGS1 and PTGS2 genes are associated with diisocyanate-induced asthma

[PMID 25957909OA-icon.png] COX-2 rs20417 Polymorphism Is Associated with Stroke and White Matter Disease

[PMID 26041990OA-icon.png] Evaluation of inflammation-related genes polymorphisms in Mexican with Alzheimer's disease: a pilot study

[PMID 26535654] Lack of association between the cyclooxygenase 2 -765G>C polymorphism and prostate cancer risk: a meta-analysis

[PMID 26884961OA-icon.png] Prostaglandin-endoperoxide synthase 2 (PTGS2) rs20417 polymorphism and prostate cancer risk: a meta analysis.