COMT, catechol-O-methyltransferase, 1312

N. diseases: 622; N. variants: 47
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.090 GeneticVariation disease BEFREE Patients with EH (n = 89), EH concurrent with ECa (n = 76), ECa (n = 186), and healthy controls (n = 1110) were genotyped for five polymorphic variants in the genes involved in metabolism of lipoproteins (APOE Cys112Arg and Arg158Cys), iron (HFE Cys282Tyr and His63Asp), and catecholamines (COMT Val158Met). 25741405 2015
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.090 GeneticVariation disease BEFREE Fourteen studies on the association of COMT (catechol-O-methyltransferase) Val158Met, CYP1B1 Leu432Val, and CYP1B1 Asn453Ser polymorphisms with endometrial cancer risk were identified, enrolling a total of 4283 cancer cases and 7094 controls. 23370603 2013
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.090 GeneticVariation disease BEFREE Further studies are needed to investigate the interactions between COMT Val158Met polymorphism and endometrial cancer in a specific population. 24390993 2013
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.090 AlteredExpression disease BEFREE Disturbed expression of phase I and phase II estrogen-metabolizing enzymes in endometrial cancer: lower levels of CYP1B1 and increased expression of S-COMT. 20887769 2011
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.090 AlteredExpression disease BEFREE The expression level of COMT protein in EC tissues was significantly lower in COMT codon 62 variant TT and codon 158 variant AA genotype carriers. 18324659 2008
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.090 AlteredExpression disease BEFREE To the best of our knowledge, this is the first study to (i) demonstrate the potential capacity of estrogen and its catechol metabolites to induce neoplastic transformation of immortalized human endometrial glandular cells; and (ii) illustrate the important role of COMT gene expression in protecting against E(2)-induced endometrial cancer. 18566989 2008
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.090 GeneticVariation disease BEFREE DNA samples from 150 cases of endometrial cancer and healthy controls (n = 165) were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to determine the genotypic frequency of 13 different polymorphic loci on the CYP1A1 (m1, m2, m3, m4), CYP1A2 1F, CYP1B1 codon432, COMT codon158, CYP17, SULT1A1 (Arg213His, 14A/G, 85C/T in the 3' flanking region), SULT1E1-64G/A promoter region, and SHBG genes. 18318428 2008
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.090 GeneticVariation disease BEFREE Compared with the COMT Val/Val wildtype genotype, the adjusted OR of endometrial cancer for women with the COMT Val/Met or COMT Met/Met genotype was 0.96 (95% CI, 0.65-1.43). 14656940 2004
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.090 PosttranslationalModification disease BEFREE Multiple promoters of catechol-O-methyltransferase gene are selectively inactivated by CpG hypermethylation in endometrial cancer. 12810635 2003