title: A genetic variant of HTR2C may play a role in the manifestation of Tourette syndrome.
abstract: Gilles de la Tourette syndrome (GTS) (MIM 137580) is a complex neuropsychiatric disorder probably originating from a disturbed interplay of several neurotransmitter systems in the prefrontal-limbic-basal ganglia loop. Polygenetic multifactorial inheritance has been postulated; nevertheless, no confirmed susceptible genes have been identified yet. As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls. We found a nominally significant association between both polymorphisms in the HTR2C and the GTS, which was more pronounced in male patients. Analysis of the further serotonergic polymorphisms did not reveal any significant result. A modified function of these promoter polymorphisms may contribute to the complex interplay of serotonin and dopamine and then to the manifestation of GTS.
authors.affiliation: Department of Psychiatry and Psychotherapy, Ludwig-Maximilians-University Munich, Germany. sandra.dehning@med.uni-muenchen.deReceived 7 May 2008 Revised 11 August 2009
authors.forename: Sandra
authors.initials: S
authors.lastname: Dehning
authors.forename: Norbert
authors.initials: N
authors.lastname: Müller
authors.forename: Judith
authors.initials: J
authors.lastname: Matz
authors.forename: Andreas
authors.initials: A
authors.lastname: Bender
authors.forename: Irina
authors.initials: I
authors.lastname: Kerle
authors.forename: Jens
authors.initials: J
authors.lastname: Benninghoff
authors.forename: Richard
authors.initials: R
authors.lastname: Musil
authors.forename: Ilja
authors.initials: I
authors.lastname: Spellmann
authors.forename: Brigitta
authors.initials: B
authors.lastname: Bondy
authors.forename: Hans-Juergen
authors.initials: HJ
authors.lastname: Möller
authors.forename: Michael
authors.initials: M
authors.lastname: Riedel
authors.forename: Peter
authors.initials: P
authors.lastname: Zill
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D044282:Receptor, Serotonin, 5-HT1A / Q000235:genetics; D044405:Receptor, Serotonin, 5-HT2C / Q000235:genetics*; D012737:Sex Factors; D005879:Tourette Syndrome / Q000235:genetics*; D055815:Young Adult
chemical_list: D044405:Receptor, Serotonin, 5-HT2C; D044282:Receptor, Serotonin, 5-HT1A