title: Association between low-activity allele of cathecolamine-O-methyl-transferase (COMT) and Borderline Personality Disorder in an Italian population.
abstract: The objective of the present study was to test the association between Borderline Personality Disorder (BPD) and the cathecolamine-O-methyl-transferase (COMT) low-activity (Met158) single nucleotide polymorphism (SNP). In this case-control study, DNA was obtained from venous blood of 19 BPD patients and 36 healthy subjects. COMT-Val158Met single-nucleotide polymorphism was genotyped by predesigned SNP assay. The COMT Met158 allele was over-represented in patients with BPD in comparison to normal subjects (68.4% vs 44.4%, respectively; Fisher exact test, p = .02). In terms of genotype, the Met158Met subjects were more frequent in patients versus controls (47.4% vs 22.2%, respectively), whereas the high-activity genotype Val158Val was under-represented (10.5% vs 33.3%, respectively). The allele encoding for the COMT with low enzymatic efficiency was found to be over-represented in BPD, possibly resulting in excessive synaptic dopaminergic activity and ultimately affecting externalizing behaviours, such as impulsivity and aggressiveness.
authors.affiliation: Azienda Ospedaliera Ospedale di Circolo di Busto Arsizio.
authors.forename: Matteo
authors.initials: M
authors.lastname: Lazzaretti
authors.forename: Dora
authors.initials: D
authors.lastname: Fabbro
authors.forename: Michela
authors.initials: M
authors.lastname: Sala
authors.forename: Kether
authors.initials: K
authors.lastname: Del Toso
authors.forename: Giulia
authors.initials: G
authors.lastname: de Vidovich
authors.forename: Elisa
authors.initials: E
authors.lastname: Marraffini
authors.forename: Niccolò
authors.initials: N
authors.lastname: Morandotti
authors.forename: Francesca
authors.initials: F
authors.lastname: Gambini
authors.forename: Francesco
authors.initials: F
authors.lastname: Barale
authors.forename: Matteo
authors.initials: M
authors.lastname: Balestrieri
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Damante
authors.forename: Edgardo
authors.initials: E
authors.lastname: Caverzasi
authors.forename: Paolo
authors.initials: P
authors.lastname: Brambilla
mesh_terms: D000328:Adult; D000374:Aggression / Q000502:physiology; D000483:Alleles; D001883:Borderline Personality Disorder / Q000235:genetics*; D016022:Case-Control Studies; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D020641:Polymorphism, Single Nucleotide
chemical_list: D002394:Catechol O-Methyltransferase