rs769223
This variant is located in the COMT gene.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Direct molecular haplotyping of multiple polymorphisms within exon 4 of the human catechol-O-methyltransferase gene by liquid chromatography–electrospray ionization time-of-flight mass spectrometryMethodsN=101Herbert Oberacher et al.(2006)· Analytical and Bioanalytical Chemistry
This paper demonstrates the application of ion-pair reversed-phase HPLC-electrospray ionization time-of-flight mass spectrometry (ICEMS) for haplotyping five SNPs (rs769223, rs4818, rs4986871, rs8192488, rs4680) in exon 4 of the human COMT gene. Using two differently sized PCR amplicons analyzed simultaneously, the authors genotyped 101 Austrian individuals and obtained haplotype frequency distributions for reference in future association studies. Two previously unknown polymorphic sites within the COMT gene were also detected and characterized.
▶Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in KoreansAssociationN=699Seong-Gene Lee et al.(2005)· Human Genetics
A case-control study of 320 Korean schizophrenic patients and 379 controls found that the rs6267 (Ala72Ser) polymorphism in the COMT gene is associated with increased schizophrenia risk (adjusted OR=1.82, 95% CI=1.19-2.76; P=0.005), with a stronger effect in females (OR=1.93; P=0.018). The 72Ser allele was correlated with reduced COMT enzyme activity in red blood cells. In contrast, the commonly studied Val158Met polymorphism (rs4680) showed no significant association with schizophrenia in this Korean population.
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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