Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5273
rs5273
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE Prostaglandin H synthase 2 variant (Val511Ala) in African Americans may reduce the risk for colorectal neoplasia. 12433707

2002

dbSNP: rs2066826
rs2066826
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Variant alleles at two markers, rs20417 and rs2066826, which are located in the promoter and intron 6, respectively, were in strong linkage disequilibrium with each other (D'=0.97) and were associated with a higher prevalence of T2DM. 12920574

2003

dbSNP: rs20417
rs20417
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Variant alleles at two markers, rs20417 and rs2066826, which are located in the promoter and intron 6, respectively, were in strong linkage disequilibrium with each other (D'=0.97) and were associated with a higher prevalence of T2DM. 12920574

2003

dbSNP: rs367650109
rs367650109
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis
0.010 GeneticVariation BEFREE The presence of the D299G and T399I polymorphisms of the TLR-4 gene does not play a major role on the progression of carotid atherosclerosis. 15953129

2005

dbSNP: rs5273
rs5273
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 GeneticVariation BEFREE Our results suggest that the COX-2 Val511Ala SNP does not antagonize the effect of NSAIDs on colon cancer risk and provides support that NSAID use and the COX-2 Val511Ala SNP may contribute to a reduced risk of colon cancer among African Americans. 16489533

2006

dbSNP: rs5273
rs5273
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE Our results suggest that the COX-2 Val511Ala SNP does not antagonize the effect of NSAIDs on colon cancer risk and provides support that NSAID use and the COX-2 Val511Ala SNP may contribute to a reduced risk of colon cancer among African Americans. 16489533

2006

dbSNP: rs20417
rs20417
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.030 GeneticVariation BEFREE We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14: 50 764 013/uS10) gene polymorphisms among 600 Caucasian male participants of the Physicians' Health Study with incident myocardial infarction (MI) or ischemic stroke and 600 age- and smoking-matched controls who remained free of all reported cardiovascular disease. 16879213

2006

dbSNP: rs20417
rs20417
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.030 GeneticVariation BEFREE We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14: 50 764 013/uS10) gene polymorphisms among 600 Caucasian male participants of the Physicians' Health Study with incident myocardial infarction (MI) or ischemic stroke and 600 age- and smoking-matched controls who remained free of all reported cardiovascular disease. 16879213

2006

dbSNP: rs20417
rs20417
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.020 GeneticVariation BEFREE We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14: 50 764 013/uS10) gene polymorphisms among 600 Caucasian male participants of the Physicians' Health Study with incident myocardial infarction (MI) or ischemic stroke and 600 age- and smoking-matched controls who remained free of all reported cardiovascular disease. 16879213

2006

dbSNP: rs689470
rs689470
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.010 GeneticVariation BEFREE We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14: 50 764 013/uS10) gene polymorphisms among 600 Caucasian male participants of the Physicians' Health Study with incident myocardial infarction (MI) or ischemic stroke and 600 age- and smoking-matched controls who remained free of all reported cardiovascular disease. 16879213

2006

dbSNP: rs689470
rs689470
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 GeneticVariation BEFREE We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14: 50 764 013/uS10) gene polymorphisms among 600 Caucasian male participants of the Physicians' Health Study with incident myocardial infarction (MI) or ischemic stroke and 600 age- and smoking-matched controls who remained free of all reported cardiovascular disease. 16879213

2006

dbSNP: rs689470
rs689470
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 GeneticVariation BEFREE We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14: 50 764 013/uS10) gene polymorphisms among 600 Caucasian male participants of the Physicians' Health Study with incident myocardial infarction (MI) or ischemic stroke and 600 age- and smoking-matched controls who remained free of all reported cardiovascular disease. 16879213

2006

dbSNP: rs5275
rs5275
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE The rs5275 polymorphism in the 3' untranslated region of the PTGS2 gene was associated with a decrease in breast cancer risk. 17214885

2007

dbSNP: rs5275
rs5275
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation BEFREE The rs5275 polymorphism in the 3' untranslated region of the PTGS2 gene was associated with a decrease in breast cancer risk. 17214885

2007

dbSNP: rs4648298
rs4648298
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE We genotyped the five most common polymorphisms (rs20417, rs5277, rs20432, rs5275, and rs4648298) in the Nurses' Health Study (1,270 cases, 1,762 controls) to test the hypothesis that polymorphisms in PTGS2 are associated with breast cancer risk, using logistic regression analyses. 17214885

2007

dbSNP: rs4648298
rs4648298
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE We genotyped the five most common polymorphisms (rs20417, rs5277, rs20432, rs5275, and rs4648298) in the Nurses' Health Study (1,270 cases, 1,762 controls) to test the hypothesis that polymorphisms in PTGS2 are associated with breast cancer risk, using logistic regression analyses. 17214885

2007

dbSNP: rs2745557
rs2745557
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.030 GeneticVariation BEFREE Three SNPs demonstrated nominally statistically significant associations with prostate cancer risk, with the most compelling polymorphism (rs2745557) associated with a lower risk of disease (odds ratio (OR) GC vs GG=0.64; 95% confidence interval (CI): 0.49-0.84; P=0.002). 17609663

2007

dbSNP: rs2745557
rs2745557
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.030 GeneticVariation BEFREE Three SNPs demonstrated nominally statistically significant associations with prostate cancer risk, with the most compelling polymorphism (rs2745557) associated with a lower risk of disease (odds ratio (OR) GC vs GG=0.64; 95% confidence interval (CI): 0.49-0.84; P=0.002). 17609663

2007

dbSNP: rs5275
rs5275
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE In PLCO, the Ex10 +837 T>C marker (rs5275) was initially associated with prostate cancer risk (P-trend = 0.02) but became non-significant after adjustment for multiple comparisons (P = 0.08); this SNP showed no association with prostate cancer risk in the Nutrition Cohort (P-trend = 0.54) or in an analysis pooling the two cohorts (P-trend = 0.20). 17999989

2008

dbSNP: rs5275
rs5275
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.020 GeneticVariation BEFREE In PLCO, the Ex10 +837 T>C marker (rs5275) was initially associated with prostate cancer risk (P-trend = 0.02) but became non-significant after adjustment for multiple comparisons (P = 0.08); this SNP showed no association with prostate cancer risk in the Nutrition Cohort (P-trend = 0.54) or in an analysis pooling the two cohorts (P-trend = 0.20). 17999989

2008

dbSNP: rs2745557
rs2745557
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE We found that the A allele of rs2745557 was preferentially transmitted in ASDs (p < 0.01) and that the GAAA haplotype was significantly associated with ASDs (p < 0.01). 18579107

2008

dbSNP: rs5275
rs5275
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 GeneticVariation BEFREE We assessed two common genetic polymorphisms: of cyclooxygenase-2 (COX-2) (COX2.8473, rs5275) and prostaglandin EP2 receptor gene (uS5, rs708494) in patients with CAD. 18989535

2008

dbSNP: rs20417
rs20417
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.030 GeneticVariation BEFREE A secondary aim was to replicate the interaction of PTGS2 rs20417 (-765G to C) with aspirin use on coronary heart disease risk observed in the Atherosclerosis Risk in Communities Study (ARIC). 19046748

2009

dbSNP: rs20417
rs20417
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.020 GeneticVariation BEFREE We replicated the observation of the Atherosclerosis Risk in Communities Study and observed an interaction of rs20417 with aspirin use on myocardial infarction risk (p for interaction=0.03). 19046748

2009

dbSNP: rs20417
rs20417
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.020 GeneticVariation BEFREE A secondary aim was to replicate the interaction of PTGS2 rs20417 (-765G to C) with aspirin use on coronary heart disease risk observed in the Atherosclerosis Risk in Communities Study (ARIC). 19046748

2009