rs20417

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. 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). 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 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. Data-mining analysis suggests an epigenetic pathogenesis for type 2 diabetes. Allellic variants in regulatory regions of cyclooxygenase-2: association with advanced colorectal adenoma. 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. Cyclooxygenase-2 polymorphisms in Parkinson's disease. Genetic polymorphisms in the cyclooxygenase-2 gene, use of nonsteroidal anti-inflammatory drugs, and breast cancer risk. 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. Association of prostaglandin-endoperoxide synthase 2 (PTGS2) polymorphisms and Alzheimer's disease in Chinese. Pyrosequencing of polymorphisms in the COX-2 gene (PTGS2) with reported clinical relevance. Association of polymorphisms in cyclooxygenase (COX)-2 with coronary and carotid calcium in the Diabetes Heart Study. Segment-specific genetic effects on carotid intima-media thickness: the Northern Manhattan study. COX-2 promoter polymorphisms and the association with prostate cancer risk in South African men. Cyclooxygenase-2 gene polymorphisms reduce the risk of oral premalignant lesions. Polymorphic variation in NFKB1 and other aspirin-related genes and risk of Hodgkin lymphoma. Dietary omega-3 fatty acids, cyclooxygenase-2 genetic variation, and aggressive prostate cancer risk. No association between cyclooxygenase-2 and uridine diphosphate glucuronosyltransferase 1A6 genetic polymorphisms and colon cancer risk. The influence of COX-2 single nucleotide polymorphisms on abdominal aortic aneurysm development and the associated inflammation. 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. Genetic variants in inflammation pathway genes and asthma in glioma susceptibility. Association of -765G>C polymorphism of the COX-2 gene with recurrent embryo implantation failure in Southern Chilean women. Cyclooxygenase-2 (COX-2) polymorphisms and risk of inflammatory bowel disease in a Scottish and Danish case-control study. Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer. Functional polymorphisms of cyclooxygenase-2 gene and risk for hepatocellular carcinoma. A polymorphism in the cyclooxygenase 2 gene in type 1 diabetic patients with nephropathy. Cyclooxygenase-2 polymorphisms and susceptibility to esophageal cancer: a meta-analysis. Interaction of cyclooxygenase-2 promoter polymorphisms with Helicobacter pylori infection and risk of gastric cancer. Functional genetic variations of cyclooxygenase-2 and susceptibility to acute myeloid leukemia in a Chinese population. Polymorphisms in COX-2 gene influence prostate cancer susceptibility in a northern Indian cohort. Polymorphisms in cycloxygenase-2 gene and breast cancer prognosis: association between PTGS2 haplotypes and histopathological features. Cyclooxygenase-2 -765G>C polymorphism is associated with C-reactive protein levels in resistant smokers but not in chronic obstructive pulmonary disease patients. Influence of COX-2 and OXTR polymorphisms on treatment outcome in treatment resistant depression.