COMT, catechol-O-methyltransferase, 1312

N. diseases: 622; N. variants: 47
Disease: Shprintzen syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 GeneticVariation disease BEFREE This paper reviews literature on the cognitive phenotype and its relationship with a polymorphism of the gene coding for catechol O-methyltransferase (COMT), a gene haploinsufficient in VCFS which modulates prefrontal dopamine levels. 21764255 2012
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 GeneticVariation disease BEFREE An association between severity of hearing loss in VCFS and the (158)Val/Met polymorphism of the catechol-O-methyltransferase gene (COMT) was explored. 20846670 2011
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 GeneticVariation disease BEFREE Our results suggest that in VCFS, the effect of the COMT Val108/158Met polymorphism is moderated by gender during the processing of emotional stimuli and could contribute to the understanding of the way in which this COMT polymorphism affects vulnerability to neuropsychiatric disorders. 20123031 2010
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 GeneticVariation disease BEFREE The COMT Val158Met polymorphism was genotyped for 26 adults with VCFS on whom DNA was available. 17493297 2008
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 GeneticVariation disease BEFREE Velocardiofacial syndrome is a genetic disorder associated with a microdeletion on the long arm of chromosome 22, and this segment is responsible for coding catechol-O-methyltransferase, an enzyme involved in dopamine degradation. 17244108 2007
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 Biomarker disease BEFREE Future longitudinal studies focusing on additional COMT polymorphic sites and other candidate genes from the deleted region will elucidate the molecular pathways leading to schizophrenia and other psychiatric disorders in VCFS. 16734939 2007
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 GeneticVariation disease BEFREE A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome). 16511839 2006
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 Biomarker disease BEFREE Several lines of evidence have implicated the catechol-O-methyltransferase (COMT) gene as a candidate for schizophrenia (SZ) susceptibility, not only because it encodes a key dopamine catabolic enzyme but also because it maps to the velocardiofacial syndrome region of chromosome 22q11 which has long been associated with SZ predisposition. 15505638 2005
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 GeneticVariation disease BEFREE The catechol-O-methyl transferase (COMT) gene has been a promising candidate in genetic research on schizophrenia because of its function in dopamine metabolism and its location on chromosome 22q11.2, which may be implicated in both schizophrenia and velocardiofacial syndrome (VCFS). 16109444 2005
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 Biomarker disease BEFREE The COMT gene has been suggested as a candidate gene for schizophrenia through linkage analyses and molecular studies of velo-cardio-facial syndrome. 15645182 2005
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 GeneticVariation disease BEFREE Of special interest is the role of this gene in major psychoses especially since a microdeletion (22q11) containing the COMT gene (velo-cardio-facial syndrome) also carries with it several types of behavioral disorders, including an increased prevalence of schizophrenia. 12707935 2003
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 Biomarker disease BEFREE The gene encoding catechol-O-methyltransferase (COMT) is a strong candidate for schizophrenia susceptibility, owing to the role of COMT in dopamine metabolism, and the location of the gene within the deleted region in velocardiofacial syndrome, a disorder associated with high rates of schizophrenia. 12802784 2003
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 Biomarker disease BEFREE The gene for COMT is located on chromosome 22q11, an area that has been implicated in the pathogenesis of schizophrenia through linkage studies and through the detection of deletions in schizophrenics and velocardiofacial syndrome patients that often present psychotic symptomatology. 12192614 2002
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 GeneticVariation disease BEFREE One of these is its biochemical function in metabolism of catecholamine neurotransmitters; another is the microdeletion, on chromosome 22q11, that includes the COMT gene and causes velocardiofacial syndrome, a syndrome associated with a high rate of psychosis, particularly schizophrenia. 12402217 2002
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 GeneticVariation disease BEFREE These data suggest that the COMT gene does not play a major role in the pathogenesis of schizophrenia, and the genotypic overlap between schizophrenia and velocardiofacial syndrome was rare in this cohort. 10450274 1999
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 GeneticVariation disease BEFREE We found no evidence that possession of the low-activity COMT allele was associated with schizophrenia in our sample of individuals with VCFS. 10530637 1999
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 GeneticVariation disease BEFREE Moreover, microdeletions including the COMT locus have been found in schizophrenics presenting typical features of the velo-cardio-facial syndrome. 10490696 1999
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 Biomarker disease BEFREE Between 85-90% of VCFS patients are hemizygous for COMT. 9702745 1998
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 GeneticVariation disease BEFREE A recent study in a small sample of patients with velo-cardio-facial syndrome who had bipolar affective disorder suggested that the Met (low activity) COMT allele might be associated with rapid-cycling in this population. 9702744 1998
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 GeneticVariation disease BEFREE Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome. 8886163 1996
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 Biomarker disease CTD_human Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome. 8886163 1996
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.600 ChromosomalRearrangement disease ORPHANET