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rs20417

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C)
(C;G)
(G;G) 0 common/normal
ReferenceGRCh38 38.1/141
Chromosome1
Position186681189
GenePTGS2
is asnp
is mentioned by
dbSNPrs20417
ebirs20417
HLIrs20417
Exacrs20417
Varsomers20417
Maprs20417
PheGenIrs20417
hapmaprs20417
1000 genomesrs20417
hgdprs20417
ensemblrs20417
gopubmedrs20417
geneviewrs20417
scholarrs20417
googlers20417
pharmgkbrs20417
gwascentralrs20417
openSNPrs20417
23andMers20417
23andMe allrs20417
SNP Nexus

SNPshotrs20417
SNPdbers20417
MSV3drs20417
GWAS Ctlgrs20417
GMAF0.1731
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.

Neighborrs689465
Distance525
Neighborrs20415
Distance366


[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.


GET Evidence
rs20417
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.234375
summary



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


[PMID 25957909] 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 26884961] Prostaglandin-endoperoxide synthase 2 (PTGS2) rs20417 polymorphism and prostate cancer risk: a meta analysis.