rs20417

minus

Geno	Mag	Summary
(C;C)
(C;G)
(G;G)	0	common/normal

Reference

GRCh38 38.1/141

Chromosome

1

Position

186681189

Gene	PACERR, PTGS2

is a	snp
is	mentioned by
dbSNP	rs20417
dbSNP (classic)	rs20417
ClinGen	rs20417
ebi	rs20417
HLI	rs20417
Exac	rs20417
Gnomad	rs20417
Varsome	rs20417
LitVar	rs20417
Map	rs20417
PheGenI	rs20417
Biobank	rs20417
1000 genomes	rs20417
hgdp	rs20417
ensembl	rs20417
geneview	rs20417
scholar	rs20417
google	rs20417
pharmgkb	rs20417
gwascentral	rs20417
openSNP	rs20417
23andMe	rs20417
SNPshot	rs20417
SNPdbe	rs20417
MSV3d	rs20417
GWAS Ctlg	rs20417

GMAF

0.1731

Max Magnitude

0

?

(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 21063235 ] 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 19046748 ] 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 21124790 ] The Functional -765G?C Polymorphism of the COX-2 Gene May Reduce the Risk of Developing Crohn's Disease

[PMID 21283657 ] 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 16046815 ] Data-mining analysis suggests an epigenetic pathogenesis for type 2 diabetes.

[PMID 16205694 ] 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 17181859 ] Genetic polymorphisms in the cyclooxygenase-2 gene, use of nonsteroidal anti-inflammatory drugs, and breast cancer risk.

[PMID 17214885 ] 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 18768181 ] Association of polymorphisms in cyclooxygenase (COX)-2 with coronary and carotid calcium in the Diabetes Heart Study.

[PMID 18787196 ] 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 19197984 ] Cyclooxygenase-2 gene polymorphisms reduce the risk of oral premalignant lesions.

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

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

[PMID 19437564 ] 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 19930591 ] 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 20406895 ] 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 20811626 ] 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 24022467 ] 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 24194923 ] 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 23029430 ] 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 25166592 ] Intestinal PTGS2 mRNA Levels, PTGS2 Gene Polymorphisms, and Colorectal Carcinogenesis

[PMID 25214704 ] 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 26041990 ] 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.