rs4633, COMT;MIR4761

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leukemia, T-Cell
CUI: C0023492
Disease: Leukemia, T-Cell
0.010 GeneticVariation BEFREE We used polymerase chain reaction to genotype the rs4680 (Val158Met) and rs4633 (His62His) variants in the catechol-O-methyltransferase gene and rs2369049 (A > G) and rs7158782 (A > G) variants in the T-cell leukemia/lymphoma 1 A gene. 29912452 2019
Arm Pain
CUI: C0239377
Disease: Arm Pain
0.010 GeneticVariation BEFREE Compared with the no arm pain class, 3 single nucleotide polymorphisms and 1 haplotype, in 4 genes, were associated with membership in the mild arm pain class: COMT rs4633, HTR2A haplotype B02 (composed of rs1923886 and rs7330636), HTR3A rs1985242, and TH rs2070762. 30904518 2019
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE CONCLUSIONS Taken together, T-77C and Arg399Gln polymorphisms of the XRCC1 gene, as well as the 186C>T and Val158Met polymorphisms of the COMT gene, increased the risk of lung cancer in non-smoking women, with the factors of occupation type, cooking-oil fumes, and soot exposures representing key contributing factors. 30109864 2018
Prolapsed lumbar disc
CUI: C0281899
Disease: Prolapsed lumbar disc
0.010 GeneticVariation BEFREE We have identified a significant SNP of COMT, rs4633, which is associated with symptomatic LDH in a large Chinese Han-based sample of the study subjects. 30158547 2018
Affective Symptoms
CUI: C0001726
Disease: Affective Symptoms
0.010 GeneticVariation BEFREE However, there has been no study investigating whether a functional four-SNP (rs6269-rs4633-rs4818-rs4680) haplotype is associated with affective symptoms over the life course. 29331705 2018
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.010 GeneticVariation BEFREE CONCLUSIONS Taken together, T-77C and Arg399Gln polymorphisms of the XRCC1 gene, as well as the 186C>T and Val158Met polymorphisms of the COMT gene, increased the risk of lung cancer in non-smoking women, with the factors of occupation type, cooking-oil fumes, and soot exposures representing key contributing factors. 30109864 2018
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.010 GeneticVariation BEFREE CONCLUSIONS Taken together, T-77C and Arg399Gln polymorphisms of the XRCC1 gene, as well as the 186C>T and Val158Met polymorphisms of the COMT gene, increased the risk of lung cancer in non-smoking women, with the factors of occupation type, cooking-oil fumes, and soot exposures representing key contributing factors. 30109864 2018
Anorexia Nervosa
CUI: C0003125
Disease: Anorexia Nervosa
0.010 GeneticVariation BEFREE We concluded that rs1800497 and rs4633 play important roles in the AN susceptibility with respect to the Chinese Han population. 26808641 2016
Agnosia for Pain
CUI: C0563625
Disease: Agnosia for Pain
0.010 GeneticVariation BEFREE Statistically significant associations were found between COMT rs4633 and rs4680 genotypes and the amount of morphine self-administered through a patient-controlled analgesia pump. 25963335 2016
Fibromyalgia
CUI: C0016053
Disease: Fibromyalgia
0.010 GeneticVariation BEFREE Although allele and genotype frequencies did not differ among groups, the rs4633 CT genotype was not associated with the presence of FM following adjustment for age and sex (OR = 0.745; 95% CI: 0.558, 0.995; p = 0.046). 26849490 2016
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.010 GeneticVariation BEFREE The CC genotype of rs4633 was positively associated with the overall risk of NTDs (OR = 3.66, 95% CI, 1.05-12.83). 24382678 2014
Intervertebral Disc Degeneration
CUI: C0158266
Disease: Intervertebral Disc Degeneration
0.010 GeneticVariation BEFREE Analysis confirmed the previously association between COMT SNP rs4633 and disc degeneration. 24904231 2014
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.010 GeneticVariation BEFREE The CC genotype of rs4633 (C/T) and the GG genotype of rs4680 (G/A) showed a significantly higher degree of PAI and the association remained positive after adjustment for age, hypertension, diabetes, smoking and drinking (p=0.035 and p=0.031, respectively). 22790479 2012
Bulimia Nervosa
CUI: C2267227
Disease: Bulimia Nervosa
0.010 GeneticVariation BEFREE This study aimed to (1) examine if certain variants of the COMT genetic markers (rs6269, rs4633, rs4818 and rs4680) are more common in BN versus controls; (2) assess transmission of COMT alleles in BN families; and (3) explore the role of COMT genotypes and haplotypes in bulimic women with childhood ADHD history. 21300128 2011
Major Depressive Disorder
CUI: C1269683
Disease: Major Depressive Disorder
0.010 GeneticVariation BEFREE Although several haplotype combinations showed significance, the combinations of G-T-G-G haplotype for rs6269, rs4633, rs4818 and rs4680 were only present in the MDD group (G-T 4.5%, corrected sim P=0.0001; G-T-G 3.87%, corrected sim P=0.001; G-T-G-G 3.3% corrected sim P=0.0025). 20531207 2010
Hallucinations
CUI: C0018524
Disease: Hallucinations
0.010 GeneticVariation BEFREE The major findings of this study were that, among the individuals carrying the rs3751082 A allele in the ALDH3B1 gene, the rs4633 T allele in the COMT gene was associated with susceptibility to paranoid schizophrenia (p = .004), development of hallucination (p = 5.141 E-5), delay of P300 latency in both patients (p = .006) and control subjects (p = .02), and increased expression of the COMT gene in control subjects (p = .002). 19159868 2009
Paranoid Schizophrenia
CUI: C0036349
Disease: Paranoid Schizophrenia
0.010 GeneticVariation BEFREE The major findings of this study were that, among the individuals carrying the rs3751082 A allele in the ALDH3B1 gene, the rs4633 T allele in the COMT gene was associated with susceptibility to paranoid schizophrenia (p = .004), development of hallucination (p = 5.141 E-5), delay of P300 latency in both patients (p = .006) and control subjects (p = .02), and increased expression of the COMT gene in control subjects (p = .002). 19159868 2009
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.010 GeneticVariation BEFREE DNA samples from 150 cases of EC and healthy controls (n = 165) were analyzed by PCR-RFLP to determine the genotypic frequency of four different polymorphic loci on COMT [codon 62 (rs4633), 102 (rs5031015), 136 (rs4818), 158 (rs4680)]. 18324659 2008
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE DNA samples from 150 cases of EC and healthy controls (n = 165) were analyzed by PCR-RFLP to determine the genotypic frequency of four different polymorphic loci on COMT [codon 62 (rs4633), 102 (rs5031015), 136 (rs4818), 158 (rs4680)]. 18324659 2008
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.010 GeneticVariation BEFREE The Val/Met and rs4633 variants showed nominally significant associations with SZ (P<0.05), although neither of the individual SNPs remained significant after adjusting for multiple testing (most significant P=0.1174). 15505638 2005
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.020 GeneticVariation BEFREE The frequencies of rs4633 T carriers, rs4680 A carriers and the two linked rs4633-rs4680 T/A carriers were significantly higher in the early onset PD group than in the healthy controls (all <i>P</i> < 0.05). 28451382 2017
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.020 GeneticVariation BEFREE However, COMT: rs4680: A>G and rs4633: C>T polymorphisms were found to significantly affect PD risk, and the MTHFR 677C>T polymorphism helped determine plasma Hcy concentrations. 22890010 2012
Low Back Pain
CUI: C0024031
Disease: Low Back Pain
0.020 GeneticVariation BEFREE Association analysis of individual SNPs adjusted for covariates revealed association of rs4633 and rs4680 with post treatment improvement in VAS LBP (p = 0.02, mean difference (β) = 13.5 and p = 0.02, β = 14.2 respectively). 22612913 2012
Low Back Pain
CUI: C0024031
Disease: Low Back Pain
0.020 GeneticVariation BEFREE A nonsignificant trend was observed between SNP rs4633 and greater improvement in VAS score for LBP. 20863768 2010
Pain
CUI: C0030193
Disease: Pain
0.050 GeneticVariation BEFREE Pressure pain was significantly associated with rs6269 and rs4633 following butorphanol. 31806881 2019