A genetic variant of HTR2C may play a role in the manifestation of Tourette syndrome.
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.
Dehning
Sandra
S
Department of Psychiatry and Psychotherapy, Ludwig-Maximilians-University Munich, Germany. sandra.dehning@med.uni-muenchen.deReceived 7 May 2008 Revised 11 August 2009
Müller
Norbert
N
Matz
Judith
J
Bender
Andreas
A
Kerle
Irina
I
Benninghoff
Jens
J
Musil
Richard
R
Spellmann
Ilja
I
Bondy
Brigitta
B
Möller
Hans-Juergen
HJ
Riedel
Michael
M
Zill
Peter
P
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
D044405:Receptor, Serotonin, 5-HT2C; D044282:Receptor, Serotonin, 5-HT1A