Topic
Catechol-O-methyl transferase
About: Catechol-O-methyl transferase is a research topic. Over the lifetime, 1646 publications have been published within this topic receiving 87360 citations.
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TL;DR: Results suggest a modest affective vulnerability conferred by this allele in psychosis, but will require replication, and suggest that phenotypic heterogeneity might be diluting the COMT effect.
Abstract: A functional polymorphism (Val-158-Met) at the Catechol-O-methyltransferase (COMT) locus has been identified as a potential etiological factor in schizophrenia. Yet the association has not been convincingly replicated across independent samples. We hypothesized that phenotypic heterogeneity might be diluting the COMT effect. To clarify the putative association, we performed an exploratory analysis to test for association between COMT and five psychosis symptom scales. These were derived through factor analysis of the Operational Criteria Checklist for Psychiatric Illness. Our sample was the Irish Study of High Density Schizophrenia Families, a large collection consisting of 268 multiplex families. This sample has previously shown a small but significant effect of the COMT Val allele in conferring risk for schizophrenia. We tested for preferential transmission of COMT alleles from parent to affected offspring (n = 749) for each of the five factor-derived scales (negative symptoms, delusions, hallucinations, mania, and depression). Significant overtransmission of the Val allele was found for mania (P < 0.05) and depression (P = 0.01) scales. Examination of odds ratios (ORs) revealed a heterogeneous effect of COMT, whereby it had no effect on Negative Symptoms, but largest impact on Depression (OR = 1.4). These results suggest a modest affective vulnerability conferred by this allele in psychosis, but will require replication.
29 citations
TL;DR: Individuals with the genotype COMT Met/Val and MTHFR C/T have more probability of suffering from MDD, however, there is no association between gene polymorphism and treatment response.
29 citations
TL;DR: Although the COMT polymorphism does not appear to be involved in predisposition to the development of MWOA, this genetic factor could be involvedin the phenotypic expression ofMWOA.
Abstract: Background: Recent genetic association studies have investigated the possible genetic role of the dopaminergic system in migraine. Catechol-O-methyltransferase (COMT) is an enzyme that plays a crucial role in the metabolism of dopamine and its genetic polymorphism is associated with three- to fourfold variation of enzymatic activity. Objectives: The objective of this study was to elucidate the role of the COMT polymorphism in the genetic susceptibility to migraine and its phenotypic expression in patients with migraine without aura (MWOA). Methods: Ninety-seven patients with MWOA and 94 healthy volunteers were included in the study. After amplifying COMT genes by the polymerase chain reaction, we assessed their genotype frequencies and allele distributions by based on restriction fragment length polymorphisms. We classified all MWOA patients into two groups according to their COMT genotype: with the L allele (N = 43), and without this allele (N = 54). Results: The genotype frequency and allele distribution of the COMT polymorphism did not differ between MWOA patients and the control group. During migraine attacks, MWOA patients with the L allele showed a higher pain intensity of headache (P = 0.001) and a higher incidence of the accompanying nausea/vomiting (94% vs 75%; P = 0.026) compared with MWOA patients without the L allele. Conclusions: Although the COMT polymorphism does not appear to be involved in predisposition to the development of MWOA, this genetic factor could be involved in the phenotypic expression of MWOA. J Clin Neurol 3(1):24-30, 2007
29 citations
TL;DR: The data suggest that COMT overexpression with subsequent increased level of 2-ME2 may lead to ovulatory dysfunction, and the regulation of catechol O-methyltransferase expression in granulosa cells was up-regulated by insulin, DHT, and ATRA.
29 citations
TL;DR: It is found that genetic variations severely reducing COMT result in detrimental cortical and cognitive development selectively in females after their sexual maturity, highlighting the importance of taking into account the combined effect of genetics, sex and developmental stage.
Abstract: The catechol-o-methyltransferase (COMT) genetic variations produce pleiotropic behavioral/neuroanatomical effects Some of these effects may vary among sexes However, the developmental trajectories of COMT-by-sex interactions are unclear Here we found that extreme COMT reduction, in both humans (22q112 deletion syndrome COMT Met) and mice (COMT-/-), was associated to cortical thinning only after puberty and only in females Molecular biomarkers, such as tyrosine hydroxylase, Akt and neuronal/cellular counting, confirmed that COMT-by-sex divergent effects started to appear at the cortical level during puberty These biochemical differences were absent in infancy Finally, developmental cognitive assessment in 22q11DS and COMT knockout mice established that COMT-by-sex-dichotomous effects in executive functions were already apparent in adolescence These findings uncover that genetic variations severely reducing COMT result in detrimental cortical and cognitive development selectively in females after their sexual maturity This highlights the importance of taking into account the combined effect of genetics, sex and developmental stage
29 citations