rs4633
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 2 | higher risk for endometrial cancer |
| (T;T) | 2 | higher risk for endometrial cancer |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 19962712 |
| Gene | COMT, MIR4761 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4633 |
| dbSNP (classic) | rs4633 |
| ClinGen | rs4633 |
| ebi | rs4633 |
| HLI | rs4633 |
| Exac | rs4633 |
| Gnomad | rs4633 |
| Varsome | rs4633 |
| LitVar | rs4633 |
| Map | rs4633 |
| PheGenI | rs4633 |
| Biobank | rs4633 |
| 1000 genomes | rs4633 |
| hgdp | rs4633 |
| ensembl | rs4633 |
| geneview | rs4633 |
| scholar | rs4633 |
| rs4633 | |
| pharmgkb | rs4633 |
| gwascentral | rs4633 |
| openSNP | rs4633 |
| 23andMe | rs4633 |
| SNPshot | rs4633 |
| SNPdbe | rs4633 |
| MSV3d | rs4633 |
| GWAS Ctlg | rs4633 |
| GMAF | 0.3903 |
| Max Magnitude | 2 |
| ? | (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 21884617
] 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 22178088] Catechol-O-methyltransferase (COMT) single nucleotide polymorphisms and haplotypes are not major risk factors for polycystic ovary syndrome
[PMID 12802784] 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 16380905] Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios.
[PMID 16848906] 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 17961261] 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 18389087] Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing.
[PMID 18574484] The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase.
[PMID 18698231] 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 19015200] Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.
[PMID 19094200] Genetic variation in the catechol-O-methyltransferase (COMT) gene and morphine requirements in cancer patients with pain.
[PMID 19168589] Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.
[PMID 19365560] Low enzymatic activity haplotypes of the human catechol-O-methyltransferase gene: enrichment for marker SNPs.
[PMID 19693267] Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.
[PMID 19772600] 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 21304959] Epistasis between COMT and MTHFR in maternal-fetal dyads increases risk for preeclampsia.
[PMID 21423693] 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.
[PMID 22790479] Association of COMT gene polymorphisms with systemic atherosclerosis in elderly Japanese
[PMID 22612913] 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 24593143] Genetic polymorphisms of catechol-O-methyltransferase modify the neurobehavioral effects of mercury in children
[PMID 24904231] 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.
| ClinVar | |
|---|---|
| Risk | Rs4633(T;T) |
| Alt | Rs4633(T;T) |
| Reference | Rs4633(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | COMT MIR4761 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000022.10:g.19950235C>T |
| CLNSRC | |
| CLNACC | RCV000249561.1, |
[PMID 28451382] Roles of functional catechol-O-methyltransferase genotypes in Chinese patients with Parkinson's disease.
[PMID 29559808] Association of genetic variation in COMT gene with pain related to sickle cell disease in patients from the walk-PHaSST study.
[PMID 29330410] The Impact of COMT and Childhood Maltreatment on Suicidal Behaviour in Affective Disorders.
- Is a snp
- In dbSNP
- SNPs on chromosome 22
- Has genotype
- Has population
- Uses omim
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip 23andMe v5
- On chip Affy GenomeWide 6
- On chip Ancestry v2
- On chip FTDNA2
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip Ancestry v2c
- On chip Ancestry v2d
