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From SNPedia

Geno Mag Summary
(C;C) normal
(C;T) 2 higher risk for endometrial cancer
(T;T) 2 higher risk for endometrial cancer
ReferenceGRCh38 38.1/141
GeneCOMT, MIR4761
is asnp
is mentioned by
1000 genomesrs4633
23andMe allrs4633
SNP Nexus

GWAS Ctlgrs4633
Max Magnitude2
? (C;C) (C;T) (T;T) 28
rs4633 is a variant at codon 62 of the COMT gene, however, it does not change the amino acid sequence of the COMT protein.

In a study of 150 (Caucasian) cases of endometrial cancer, a significant increase in rs4633(T;T) genotype was observed in patients compared to controls (OR = 2.39, CI: 1.31-4.37, p = 0.004). Furthemore, the frequency of the C-G haplotype of rs4633-rs4680 was significantly higher in controls (p < 0.0001) than in patients. This correlated with lower expression levels of the COMT protein in carriers of these alleles.[PMID 18324659]

pubmed 1180576 Schizophrenia Susceptibility

[PMID 15537663] Genetic basis for individual variations in pain perception and the development of a chronic pain condition


[PMID 19290789] Association studies of catechol-O-methyltransferase (COMT) gene with schizophrenia and response to antipsychotic treatment


[PMID 19159868] Evidence of epistasis between the catechol-O-methyltransferase and aldehyde dehydrogenase 3B1 genes in paranoid schizophrenia

[PMID 20570835] No evidence for a role of the catechol-O-methyltransferase pain sensitivity haplotypes in chronic widespread pain

[PMID 21300128] COMT Val158met variant and functional haplotypes associated with childhood ADHD history in women with bulimia nervosa

[PMID 21570824] Clinical and genetic factors associated with nausea and vomiting in cancer patients receiving opioids

[PMID 21884617OA-icon.png] Association of COMT genotypes with S-COMT promoter methylation in growth-discordant monozygotic twins and healthy adults

[PMID 21940152] The impact of COMT gene polymorphisms on suicidality in treatment resistant major depressive disorder - A European Multicenter Study

[PMID 22451510] Catechol-O-Methyltransferase Gene and Executive Function in Children With ADHD

[PMID 22528689] Pain sensitivity in fibromyalgia is associated with catechol-O-methyltransferase (COMT) gene

[PMID 22178088OA-icon.png] Catechol-O-methyltransferase (COMT) single nucleotide polymorphisms and haplotypes are not major risk factors for polycystic ovary syndrome

[PMID 12802784OA-icon.png] A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain.

[PMID 15505638] Separate and interacting effects within the catechol-O-methyltransferase (COMT) are associated with schizophrenia.

[PMID 16380905OA-icon.png] Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios.

[PMID 16848906OA-icon.png] Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans.

[PMID 17363961] Clinical involvement of catechol-O-methyltransferase polymorphisms in schizophrenia spectrum disorders: influence on the severity of psychotic symptoms and on the response to neuroleptic treatment.

[PMID 17961261OA-icon.png] Catechol-O-methyltransferase gene haplotypes in Mexican and Spanish patients with fibromyalgia.

[PMID 18064318] Catechol-O-methyltransferase genotype is associated with plasma total homocysteine levels and may increase venous thrombosis risk.

[PMID 18389087OA-icon.png] Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing.

[PMID 18574484OA-icon.png] The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase.

[PMID 18698231OA-icon.png] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.

[PMID 18698234] The association of functional catechol-O-methyltransferase haplotypes with risk of Parkinson's disease, levodopa treatment response, and complications.

[PMID 18802928] Association between catechol O-methyltransferase (COMT) haplotypes and severity of hyperactivity symptoms in adults.

[PMID 19015200OA-icon.png] Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.

[PMID 19094200OA-icon.png] Genetic variation in the catechol-O-methyltransferase (COMT) gene and morphine requirements in cancer patients with pain.

[PMID 19168589OA-icon.png] Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.

[PMID 19365560OA-icon.png] Low enzymatic activity haplotypes of the human catechol-O-methyltransferase gene: enrichment for marker SNPs.

[PMID 19693267OA-icon.png] Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.

[PMID 19772600OA-icon.png] A comparison of classification methods for predicting Chronic Fatigue Syndrome based on genetic data.

[PMID 19852950] The association of catechol-O-methyltransferase genotype with the phenotype of women with eating disorders.

[PMID 20483479] Analysis of association between the catechol-O-methyltransferase (COMT) gene and negative symptoms in chronic schizophrenia.

[PMID 20531207] The impact of catechol-O-methyltransferase SNPs and haplotypes on treatment response phenotypes in major depressive disorder: a case-control association study.

[PMID 20627703] The association of single nucleotide polymorphisms in the catechol-O-methyltransferase gene and pain scores in female patients with major depressive disorder.

[PMID 20667552] Catechol-o-methyltransferase gene modulation on suicidal behavior and personality traits: review, meta-analysis and association study.

[PMID 20863768] Association of catechol-O-methyltransferase genetic variants with outcome in patients undergoing surgical treatment for lumbar degenerative disc disease.

[PMID 21304959OA-icon.png] Epistasis between COMT and MTHFR in maternal-fetal dyads increases risk for preeclampsia.

[PMID 21423693OA-icon.png] Effect sizes in experimental pain produced by gender, genetic variants and sensitization procedures.

[PMID 21462137] [An association study of COMT gene polymorphisms with schizophrenia].

[PMID 21680027] Influence and interaction of genetic polymorphisms in catecholamine neurotransmitter systems and early life stress on antidepressant drug response.

[PMID 22253202] Catechol-O-methyltransferase polymorphisms do not play a significant role in pain perception in male Chinese Han population.

GET Evidence
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.457318

[PMID 22790479] Association of COMT gene polymorphisms with systemic atherosclerosis in elderly Japanese

[PMID 22612913OA-icon.png] Genetic contribution of catechol-O-methyltransferase variants in treatment outcome of low back pain: a prospective genetic association study

[PMID 24382678] Association between maternal COMT gene polymorphisms and fetal neural tube defects risk in a Chinese population

[PMID 24448899] Metabolic syndrome in patients taking clozapine: prevalence and influence of catechol-O-methyltransferase genotype

[PMID 22890010] Association of COMT, MTHFR, and SLC19A1(RFC-1) polymorphisms with homocysteine blood levels and cognitive impairment in Parkinson's disease.

[PMID 22939719] Oxytocin and catechol-O-methyltransferase receptor genotype predict the length of the first stage of labor.

[PMID 24593143OA-icon.png] Genetic polymorphisms of catechol-O-methyltransferase modify the neurobehavioral effects of mercury in children

[PMID 24904231OA-icon.png] A Novel Catechol-O-Methyltransferase Variant Associated with Human Disc Degeneration

[PMID 26849490] Association between catechol-O-methyl transferase gene polymorphisms and fibromyalgia in a Korean population: A case-control study.

[PMID 27228319] A Tetra-Primer Amplification Refractory System Technique for the Cost-Effective and Novel Genotyping of Eight Single-Nucleotide Polymorphisms of the Catechol-O-Methyltransferase Gene.