title: Lack of association of catechol-O-methyltransferase (COMT) functional polymorphism in bipolar affective disorder.
abstract: Abnormal catecholamine transmission has been implicated in the pathogenesis of mood disorders. Consequently, alterations in genes that are involved in catecholamine metabolism could be potential candidates for bipolar affective disorder (BPD) vulnerability. One such candidate is catechol-O-methyltransferase (COMT). A functional polymorphism has recently been characterized that is responsible for substantial variability in COMT enzymatic activity. A relatively low activity allele is associated with a methionine residue at amino acid 158 of membrane bound COMT whereas a high activity variant has a valine at this site. We have now screened 63 unrelated patients with BPD for this functional polymorphism. However, no significant association was detected. This suggests that the codon 158 COMT polymorphism is not a susceptibility gene in BPD.
authors.affiliation: Department of Medicine, Albert Einstein College of Medicine, Bronx, New York 10461, USA. lachman@aecom.yu.edu
authors.forename: H M
authors.initials: HM
authors.lastname: Lachman
authors.forename: J
authors.initials: J
authors.lastname: Kelsoe
authors.forename: L
authors.initials: L
authors.lastname: Moreno
authors.forename: S
authors.initials: S
authors.lastname: Katz
authors.forename: D F
authors.initials: DF
authors.lastname: Papolos
mesh_terms: D000483:Alleles; D001714:Bipolar Disorder / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D002394:Catechol O-Methyltransferase / Q000235:genetics* / Q000502:physiology; D002395:Catecholamines / Q000378:metabolism; D003062:Codon / Q000235:genetics; D004198:Disease Susceptibility; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D009519:New York City / Q000453:epidemiology; D011110:Polymorphism, Genetic; D044465:White People / Q000235:genetics
chemical_list: D002395:Catecholamines; D003062:Codon; D002394:Catechol O-Methyltransferase