title: An association study between 5-HTTLPR polymorphism, COMT polymorphism, and Tourette's syndrome.
abstract: Several lines of evidence suggest that a genetic component underlies Tourette's syndrome (TS). We investigated both the role of the insertion/deletion polymorphism in the promoter region of the serotonin transporter gene (5-HTTLPR) and that of the Val-158-Met substitution in the catechol-O-methyl-transferase (COMT) gene in conferring susceptibility to TS. Fifty-two TS patients were recruited and compared with a control group of 63 healthy subjects. Neither a genotypic nor an allelic association was found; subdividing TS patients according to clinical variables, such as a co-diagnosis of obsessive-compulsive disorder (OCD) and a positive family history for obsessive compulsive disorder or tics, also failed to reveal a significant association. The lack of significance for 5-HTTLPR and COMT polymorphisms in conferring liability to TS does not exclude a role of different functional polymorphisms in genes coding for serotonergic or dopaminergic structures in the etiology of TS. In fact, TS is a complex disorder and these genes most likely have only a minor genetic effect in its etiology.
authors.affiliation: Istituto Scientifico H San Raffaele, Department of Neuroscience, University of Milan Medical School, Via L. Prinetti, 29, 20127, Milan, Italy. cavallini.cristina@hsr.it
authors.forename: M C
authors.initials: MC
authors.lastname: Cavallini
authors.forename: D
authors.initials: D
authors.lastname: Di Bella
authors.forename: M
authors.initials: M
authors.lastname: Catalano
authors.forename: L
authors.initials: L
authors.lastname: Bellodi
mesh_terms: D000328:Adult; D000483:Alleles; D002352:Carrier Proteins / Q000235:genetics*; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D015870:Gene Expression / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; D009771:Obsessive-Compulsive Disorder / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D012701:Serotonin / Q000235:genetics*; D050486:Serotonin Plasma Membrane Transport Proteins; D005879:Tourette Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D017931:DNA Primers; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins; D012701:Serotonin; D002394:Catechol O-Methyltransferase