title: Obsessive-compulsive disorder and a novel polymorphism adjacent to the oestrogen response element (ERE 6) upstream from the COMT gene.
abstract: Family and twin studies have consistently provided evidence for involvement of genetic mechanisms in obsessive-compulsive disorder (OCD). This has given rise to association studies involving several candidate genes in an endeavour to identify susceptibility factors. One of the more promising candidate genes appears to be the catecol-O-methyltransferase (COMT) gene. Recent association studies in North American and Afrikaner populations have reported a likely association between a functional polymorphism of COMT (linked with COMT enzyme activity levels) and OCD. COMT expression has been demonstrated to be regulated by oestrogen through the oestrogen-response elements (EREs) in the promoter region of the gene. In the light of this association, the authors tested for an association between a novel polymorphism (C --> T transition) adjacent to ERE 6 in the promoter area of COMT and OCD in 48 Afrikaners and 48 ethnically matched controls. The C --> T transition was not significantly associated with OCD (P = 0.93) or gender (P = 0.67). These findings, although limited by a small sample size, suggest that the novel polymorphism adjacent to ERE 6 in the promoter area of COMT does not play a major role in the genetic predisposition to OCD.
authors.affiliation: MRC/US Centre for Molecular and Cellular Biology, University of Stellenbosch, Tygerberg, South Africa.
authors.forename: C
authors.initials: C
authors.lastname: Kinnear
authors.forename: D J
authors.initials: DJ
authors.lastname: Niehaus
authors.forename: S
authors.initials: S
authors.lastname: Seedat
authors.forename: J C
authors.initials: JC
authors.lastname: Moolman-Smook
authors.forename: V A
authors.initials: VA
authors.lastname: Corfield
authors.forename: G
authors.initials: G
authors.lastname: Malherbe
authors.forename: A
authors.initials: A
authors.lastname: Potgieter
authors.forename: C
authors.initials: C
authors.lastname: Lombard
authors.forename: D J
authors.initials: DJ
authors.lastname: Stein
mesh_terms: D002394:Catechol O-Methyltransferase / Q000235:genetics*; D004252:DNA Mutational Analysis; D004967:Estrogens / Q000494:pharmacology; D005006:Ethnicity / Q000235:genetics; D005786:Gene Expression Regulation / Q000187:drug effects; D020022:Genetic Predisposition to Disease; D006801:Humans; D009426:Netherlands / Q000208:ethnology; D009771:Obsessive-Compulsive Disorder / Q000453:epidemiology / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic / Q000235:genetics*; D013019:South Africa / Q000453:epidemiology
chemical_list: D004967:Estrogens; D002394:Catechol O-Methyltransferase