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rs4633

From SNPedia

Orientationplus
Stabilizedplus
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
Chromosome22
Position19962712
GeneCOMT, MIR4761
is asnp
is mentioned by
dbSNPrs4633
ebirs4633
HLIrs4633
Exacrs4633
Varsomers4633
Maprs4633
PheGenIrs4633
hapmaprs4633
1000 genomesrs4633
hgdprs4633
ensemblrs4633
gopubmedrs4633
geneviewrs4633
scholarrs4633
googlers4633
pharmgkbrs4633
gwascentralrs4633
openSNPrs4633
23andMers4633
23andMe allrs4633
SNP Nexus

SNPshotrs4633
SNPdbers4633
MSV3drs4633
GWAS Ctlgrs4633
GMAF0.3903
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

Neighborrs6267
Distance28


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

OMIM116790
DescCATECHOL-O-METHYLTRANSFERASE; COMT
Variant
Relatedalso

[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
rs4633
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.457318
summary



[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.