{{Rsnum
|rsid=4633
|Gene=COMT
|Chromosome=22
|position=19962712
|Orientation=plus
|ReferenceAllele=C
|GMAF=0.3903
|Gene_s=COMT,MIR4761
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 28.8 | 45.9 | 25.2
| HCB | 53.3 | 37.2 | 9.5
| JPT | 50.4 | 43.4 | 6.2
| YRI | 47.6 | 40.1 | 12.2
| ASW | 52.6 | 31.6 | 15.8
| CHB | 53.3 | 37.2 | 9.5
| CHD | 52.3 | 43.1 | 4.6
| GIH | 36.6 | 41.6 | 21.8
| LWK | 48.2 | 40.0 | 11.8
| MEX | 39.7 | 48.3 | 12.1
| MKK | 45.5 | 44.9 | 9.6
| TSI | 29.4 | 50.0 | 20.6
| HapMapRevision=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}}

[http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1180576 pubmed 1180576] Schizophrenia Susceptibility

{{PMID|15537663}} Genetic basis for individual variations in pain perception and the development of a chronic pain condition

{{ neighbor
| rsid = 6267
| distance = 28
}}

{{PMID Auto
|PMID=19290789
|Title=Association studies of catechol-O-methyltransferase (COMT) gene with schizophrenia and response to antipsychotic treatment
}}

{{omim
|desc=CATECHOL-O-METHYLTRANSFERASE; COMT
|id=116790
|rsnum=4633
}}
{{PMID Auto
|PMID=19159868
|Title=Evidence of epistasis between the catechol-O-methyltransferase and aldehyde dehydrogenase 3B1 genes in paranoid schizophrenia
}}

{{PharmGKB
|RSID=rs4633
|Name_s=COMT: His62His
|Gene_s=COMT
|Feature=Exon/Syn
|Evidence=PubMed ID:15537663
|Annotation=On the basis of subjects' pain responsiveness, haplotypes involving rs6269 (A/G), rs4633 (C/T), rs4818 (C/G), and rs4680 (G/A) were designated as low (low pain sensitivity (LPS) haplotype; GCGG), average (average pain sensitivity (APS) haplotype; ATCA), or high (high pain sensitivity (HPS) haplotype; ACCG) pain sensitive.
|Drugs=
|Drug Classes=
|Diseases=Pain
|Curation Level=Curated
|PharmGKB Accession ID=PA164944060
}}

{{PMID Auto
|PMID=20570835
|Title=No evidence for a role of the catechol-O-methyltransferase pain sensitivity haplotypes in chronic widespread pain
}}

{{PMID Auto
|PMID=21300128
|Title=COMT Val158met variant and functional haplotypes associated with childhood ADHD history in women with bulimia nervosa
}}

{{PMID Auto
|PMID=21570824
|Title=Clinical and genetic factors associated with nausea and vomiting in cancer patients receiving opioids
}}

{{PMID Auto
|PMID=21884617
|Title=Association of COMT genotypes with S-COMT promoter methylation in growth-discordant monozygotic twins and healthy adults
|OA=1
}}

{{PMID Auto
|PMID=21940152
|Title=The impact of COMT gene polymorphisms on suicidality in treatment resistant major depressive disorder - A European Multicenter Study
}}

{{PMID Auto
|PMID=22451510
|Title=Catechol-O-Methyltransferase Gene and Executive Function in Children With ADHD
}}

{{PMID Auto
|PMID=22528689
|Title=Pain sensitivity in fibromyalgia is associated with catechol-O-methyltransferase (COMT) gene
}}

{{PMID Auto
|PMID=22178088
|Title=Catechol-O-methyltransferase (COMT) single nucleotide polymorphisms and haplotypes are not major risk factors for polycystic ovary syndrome
|OA=1
}}

{{PMID Auto
|PMID=12802784
|Title=A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain.
|OA=1
}}

{{PMID Auto
|PMID=15505638
|Title=Separate and interacting effects within the catechol-O-methyltransferase (COMT) are associated with schizophrenia.
}}

{{PMID Auto
|PMID=16380905
|Title=Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios.
|OA=1
}}

{{PMID Auto
|PMID=16848906
|Title=Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans.
|OA=1
}}

{{PMID Auto
|PMID=17363961
|Title=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 Auto
|PMID=17961261
|Title=Catechol-O-methyltransferase gene haplotypes in Mexican and Spanish patients with fibromyalgia.
|OA=1
}}

{{PMID Auto
|PMID=18064318
|Title=Catechol-O-methyltransferase genotype is associated with plasma total homocysteine levels and may increase venous thrombosis risk.
}}

{{PMID Auto
|PMID=18389087
|Title=Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing.
|OA=1
}}

{{PMID Auto
|PMID=18574484
|Title=The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase.
|OA=1
}}

{{PMID Auto
|PMID=18698231
|Title=Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
|OA=1
}}

{{PMID Auto
|PMID=18698234
|Title=The association of functional catechol-O-methyltransferase haplotypes with risk of Parkinson's disease, levodopa treatment response, and complications.
}}

{{PMID Auto
|PMID=18802928
|Title=Association between catechol O-methyltransferase (COMT) haplotypes and severity of hyperactivity symptoms in adults.
}}

{{PMID Auto
|PMID=19015200
|Title=Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.
|OA=1
}}

{{PMID Auto
|PMID=19094200
|Title=Genetic variation in the catechol-O-methyltransferase (COMT) gene and morphine requirements in cancer patients with pain.
|OA=1
}}

{{PMID Auto
|PMID=19168589
|Title=Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.
|OA=1
}}

{{PMID Auto
|PMID=19365560
|Title=Low enzymatic activity haplotypes of the human catechol-O-methyltransferase gene: enrichment for marker SNPs.
|OA=1
}}

{{PMID Auto
|PMID=19693267
|Title=Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.
|OA=1
}}

{{PMID Auto
|PMID=19772600
|Title=A comparison of classification methods for predicting Chronic Fatigue Syndrome based on genetic data.
|OA=1
}}

{{PMID Auto
|PMID=19852950
|Title=The association of catechol-O-methyltransferase genotype with the phenotype of women with eating disorders.
}}

{{PMID Auto
|PMID=20483479
|Title=Analysis of association between the catechol-O-methyltransferase (COMT) gene and negative symptoms in chronic schizophrenia.
}}

{{PMID Auto
|PMID=20531207
|Title=The impact of catechol-O-methyltransferase SNPs and haplotypes on treatment response phenotypes in major depressive disorder: a case-control association study.
}}

{{PMID Auto
|PMID=20627703
|Title=The association of single nucleotide polymorphisms in the catechol-O-methyltransferase gene and pain scores in female patients with major depressive disorder.
}}

{{PMID Auto
|PMID=20667552
|Title=Catechol-o-methyltransferase gene modulation on suicidal behavior and personality traits: review, meta-analysis and association study.
}}

{{PMID Auto
|PMID=20863768
|Title=Association of catechol-O-methyltransferase genetic variants with outcome in patients undergoing surgical treatment for lumbar degenerative disc disease.
}}

{{PMID Auto
|PMID=21304959
|Title=Epistasis between COMT and MTHFR in maternal-fetal dyads increases risk for preeclampsia.
|OA=1
}}

{{PMID Auto
|PMID=21423693
|Title=Effect sizes in experimental pain produced by gender, genetic variants and sensitization procedures.
|OA=1
}}

{{PMID Auto
|PMID=21462137
|Title=[An association study of COMT gene polymorphisms with schizophrenia].
}}

{{PMID Auto
|PMID=21680027
|Title=Influence and interaction of genetic polymorphisms in catecholamine neurotransmitter systems and early life stress on antidepressant drug response.
}}

{{PMID Auto
|PMID=22253202
|Title=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
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4633
|overall_frequency_n=4918
|overall_frequency_d=10754
|overall_frequency=0.457318
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=41
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=22790479
|Title=Association of COMT gene polymorphisms with systemic atherosclerosis in elderly Japanese
}}

{{PMID Auto
|PMID=22612913
|Title=Genetic contribution of catechol-O-methyltransferase variants in treatment outcome of low back pain: a prospective genetic association study
|OA=1
}}

{{PMID Auto
|PMID=24382678
|Title=Association between maternal COMT gene polymorphisms and fetal neural tube defects risk in a Chinese population
}}

{{PMID Auto
|PMID=24448899
|Title=Metabolic syndrome in patients taking clozapine: prevalence and influence of catechol-O-methyltransferase genotype
}}

{{PMID Auto
|PMID=22890010
|Title=Association of COMT, MTHFR, and SLC19A1(RFC-1) polymorphisms with homocysteine blood levels and cognitive impairment in Parkinson's disease.
}}

{{PMID Auto
|PMID=22939719
|Title=Oxytocin and catechol-O-methyltransferase receptor genotype predict the length of the first stage of labor.
}}

{{PMID Auto
|PMID=24593143
|Title=Genetic polymorphisms of catechol-O-methyltransferase modify the neurobehavioral effects of mercury in children
|OA=1
}}

{{PMID Auto
|PMID=24904231
|Title=A Novel Catechol-O-Methyltransferase Variant Associated with Human Disc Degeneration
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}