PTGS1, prostaglandin-endoperoxide synthase 1, 5742

N. diseases: 318; N. variants: 36
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200550102
rs200550102
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C1857355
Disease:
Leigh syndrome , French Canadian type
0.010 GeneticVariation BEFREE The levels of COX (cytochrome c oxidase) I and COX III mRNA visible on Northern blots were reduced in LSFC patients due to the common (A354V, Ala354-->Val) founder mutation. 15139850 2004
dbSNP: rs3842787
rs3842787
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0001430
Disease:
Adenoma
0.010 GeneticVariation BEFREE Whereas there was no appreciable difference in adenoma or hyperplastic polyp risk associated with R8W, P17L, and L237M, an increased risk was observed for individuals heterozygous for the L15-L16del polymorphism (OR = 3.6, 95% CI 1.2-11.2). 15159324 2004
dbSNP: rs5789
rs5789
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0001430
Disease:
Adenoma
0.010 GeneticVariation BEFREE Whereas there was no appreciable difference in adenoma or hyperplastic polyp risk associated with R8W, P17L, and L237M, an increased risk was observed for individuals heterozygous for the L15-L16del polymorphism (OR = 3.6, 95% CI 1.2-11.2). 15159324 2004
dbSNP: rs3842787
rs3842787
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0030920
Disease:
Peptic Ulcer
0.030 GeneticVariation BEFREE The adjusted risk for peptic ulcer bleeding among individuals who were </span>heterozygote for the A-842G/C50T polymorphism was 0.75 (range, 0.19-3.01) compared with wild type. 17078001 2006
dbSNP: rs3842787
rs3842787
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0333291
Disease:
Bleeding ulcer
0.010 GeneticVariation BEFREE The adjusted risk for peptic ulcer bleeding among individuals who were </span>heterozygote for the A-842G/C50T polymorphism was 0.75 (range, 0.19-3.01) compared with wild type. 17078001 2006
dbSNP: rs3842787
rs3842787
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C1302401
Disease:
Adenoma of large intestine
0.010 GeneticVariation BEFREE Homozygote carriers of variant alleles for the PTGS1 50C>T, PTGS2 -765G>C and IL-10 -592C>A polymorphisms did not have a significantly altered risk of CRA recurrence (relative risk [RR]=0.91; 95% confidence interval [CI]: 0.14-6.07, RR=1.32; 95% CI: 0.66-2.62 and RR=1.24; 95% CI: 0.74-2.07, respectively). 17640058 2007
dbSNP: rs1216603398
rs1216603398
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE On the contrary, two other SNPs, PLA2G2A c.435+230C>T and PPARG c.1431C>T (p.His477His), were associated with a decrease in CRC risk. 18992148 2008
dbSNP: rs5788
rs5788
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and MTHFR c.1286A>C (p.Ala429Glu). 18992148 2008
dbSNP: rs771287763
rs771287763
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and MTHFR c.1286A>C (p.Ala429Glu). 18992148 2008
dbSNP: rs10306135
rs10306135
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE Furthermore, individuals homozygote for the variant allele rs10306135 had lower prevalence of CVD, compared to the common allele (0% versus 30%, P=0.0047). 19091535 2009
dbSNP: rs1300938986
rs1300938986
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C1561643
Disease:
Chronic Kidney Diseases
0.010 GeneticVariation BEFREE Subsequent multivariable logistic regression analysis with adjustment for covariates as well as a stepwise forward selection procedure revealed that the T --> C (Val591Ala) polymorphism of APOB (rs679899), the -681C --> G polymorphism of PPARG (rs10865710), the T --> C (Cys1367Arg) polymorphism of WRN (rs1346044), the -850C --> T polymorphism of TNF (rs1799724), the -219G --> T polymorphism of APOE (rs405509), the C --> T polymorphism of PTGS1 (rs883484) and the 41A --> G (Glu14Gly) polymorphism of ACAT2 (rs9658625) were significantly (P<0.05) associated with the prevalence of CKD. 19282863 2009
dbSNP: rs3842787
rs3842787
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0030920
Disease:
Peptic Ulcer
0.030 GeneticVariation BEFREE Two single nucleotide polymorphisms (SNP) of cyclooxygenase-1 (COX-1), A-842G and C50T, exhibited increased sensitivity to aspirin and had lower prostaglandin synthesis capacity, lacking statistical significance in the association with bleeding peptic ulcer. 20586862 2010
dbSNP: rs1440603985
rs1440603985
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Carriage of the minor allele of UBD I68T was significantly associated with advanced stages of CRC and with CRC below 65 years of age (OR, 1.23; 95% CI, 1.04-1.45; p = 0.02 and OR, 1.32; 95% CI, 1.05-1.67; p = 0.02, respectively). 21351261 2010
dbSNP: rs3842788
rs3842788
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0948008
Disease:
Ischemic stroke
0.020 GeneticVariation BEFREE To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are associated with intracerebral hemorrhage (ICH) and ischemic stroke (IS), seven SNPs in the coding or promoter regions were selected: ALOX12 (rs434473, Asn322Ser), ALOX5 (rs2228064, Thr90Thr), ALOX5AP (rs17222919, -1316T/G), PTGES (rs7872802, -404A/G), PTGIS (rs5628, Leu256Leu), PTGS1 (rs3842788, Gln41Gln) and PTGS2 (rs5275, 3'UTR). 21816595 2011
dbSNP: rs1160235906
rs1160235906
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0578870
Disease:
Chronic idiopathic urticaria
0.010 GeneticVariation BEFREE A multiple regression model was found to show that COX-2 5'UTR T/G, COX-2 Exon 10 T/C, and FLAP -336 G/A polymorphisms were significantly associated with CSU, with the minor allele more represented in CSU group. 21227888 2011
dbSNP: rs1213266
rs1213266
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE One, G>A intron 9 (rs1213266), was associated with approximately 50% lower CRC mortality (HR(AA/AG vs. GG) = 0.48; 95% CI, 0.25-0.93). 21976545 2011
dbSNP: rs1256318228
rs1256318228
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0013395
Disease:
Dyspepsia
0.010 GeneticVariation BEFREE On the other hand, the association between T allele of GNB3 C825T polymorphism and dyspepsia was reported from Japan and Netherlands. 21443717 2011
dbSNP: rs1378013115
rs1378013115
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0948008
Disease:
Ischemic stroke
0.010 GeneticVariation BEFREE To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are associated with intracerebral hemorrhage (ICH) and ischemic stroke (IS), seven SNPs in the coding or promoter regions were selected: ALOX12 (rs434473, Asn322Ser), ALOX5 (rs2228064, Thr90Thr), ALOX5AP (rs17222919, -1316T/G), PTGES (rs7872802, -404A/G), PTGIS (rs5628, Leu256Leu), PTGS1 (rs3842788, Gln41Gln) and PTGS2 (rs5275, 3'UTR). 21816595 2011
dbSNP: rs200028534
rs200028534
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0578870
Disease:
Chronic idiopathic urticaria
0.010 GeneticVariation BEFREE A multiple regression model was found to show that COX-2 5'UTR T/G, COX-2 Exon 10 T/C, and FLAP -336 G/A polymorphisms were significantly associated with CSU, with the minor allele more represented in CSU group. 21227888 2011
dbSNP: rs3842787
rs3842787
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE The cyclooxygenase-1 C50T polymorphism is not associated with aspirin responsiveness status in stable coronary artery disease in Tunisian patients. 21434767 2011
dbSNP: rs3842787
rs3842787
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE Our study did not demonstrate any association between the Cox-1 gene C50T polymorphism and aspirin nonresponsiveness status in stable CAD patients. 21434767 2011
dbSNP: rs3842787
rs3842787
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE The cyclooxygenase-1 C50T polymorphism is not associated with aspirin responsiveness status in stable coronary artery disease in Tunisian patients. 21434767 2011
dbSNP: rs4836884
rs4836884
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0013395
Disease:
Dyspepsia
0.010 GeneticVariation BEFREE On the other hand, the association between T allele of GNB3 C825T polymorphism and dyspepsia was reported from Japan and Netherlands. 21443717 2011
dbSNP: rs5789
rs5789
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Three variants, including L237M, resulted in significantly elevated CRC mortality risk, with HRs ranging from approximately 1.5 to 2.0. 21976545 2011
dbSNP: rs10306121
rs10306121
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
CUI: C0428474
Disease:
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012