rs2075507

This is a regulatory region variant variant in the COMT gene.

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Research that mentions this SNP (2)

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Association between COMT gene rs165599 SNP and schizophrenia: A meta‐analysis of case‐control studies
Meta-analysisN=9,634Harika Gozde Gozukara Bag et al.(2018)· Molecular Genetics & Genomic Medicine

Meta-analysis of 20 case-control studies examining the association between COMT gene rs165599 SNP and schizophrenia. Found no statistically significant overall association under four genetic models (OR ranged 0.955-0.985), though sex-specific analysis showed G allele carriers had increased schizophrenia risk in females (OR=1.366, 95% CI=1.094-1.706) compared to AA homozygotes.

Traits studied:Schizophrenia
PubMedDOIMetascience Observatory
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Association of RANBP1 haplotype with smooth pursuit eye movement abnormality
ReviewHyun Sub Cheong et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This comprehensive review examines the genomics of schizophrenia and pharmacogenomics of antipsychotic drugs, synthesizing evidence on over 200 genes associated with psychotic disorders. The authors discuss five categories of genes relevant to antipsychotic response: disease-associated genes, mechanism-of-action genes, drug metabolism genes (particularly CYP2D6, CYP2C19, CYP2C9, CYP3A4), drug transporter genes, and pleiotropic genes. The review details pharmacogenomic profiles of 20+ antipsychotic drugs and demonstrates significant ethnic and interindividual variation in drug metabolism phenotypes, with examples including CYP2D6 extensive metabolizers (55.71% of population), intermediate metabolizers (34.7%), poor metabolizers (2.28%), and ultra-rapid metabolizers (7.31%).

Traits studied:Alzheimer diseaseAntipsychotic drug responseAntipsychotic drug side effectsAnxiety disordersBipolar disorderCNS disordersDepressive disorderParkinson's diseasePsychotic disordersSchizoaffective disorderSchizophreniaTardive dyskinesiaVascular dementia
PubMedDOIMetascience Observatory

About COMT

Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008]

View all COMT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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