Article

Association analysis of the catechol-o-methyltransferase (COMT), serotonin transporter (5-HTT) and serotonin 2A receptor (5HT2A) gene polymorphisms with obsessive-compulsive disorder.

Department of Psychiatry, University of São Paulo Medical School, São Paulo, Brazil.
Genes Brain and Behavior (impact factor: 3.48). 05/2004; 3(2):75-9.
Source: PubMed

ABSTRACT Family and twin studies have supported a strong genetic factor in the etiology of obsessive-compulsive disorder (OCD), although the precise mechanism of inheritance is unclear. Clinical and pharmacological studies have implicated the serotonergic and dopaminergic systems in disease pathogenesis. In this cross-sectional study, we have examined the allelic and genotypic frequencies of a Val-158-Met substitution in the COMT gene, a 44-base pair (bp) length variation in the regulatory region of the serotonin transporter gene (5-HTTLPR) and the T102C and C516T variants in the serotonin receptor type 2A (5HT2A) gene in 79 OCD patients and 202 control subjects. There were no observed differences in the frequencies of allele and genotype between patients and control groups for the COMT, the 5HTTLPR and the T102C 5HT2A gene polymorphisms. In contrast, a statistically significant difference between OCD patients and controls was observed on the genotypic distribution (chi(2) = 16.7, 2df, P = 0.0002) and on the allelic frequencies (chi(2) = 15.8, 1df, P = 0.00007) for the C516T 5HT2A gene polymorphism. The results suggest that the C516T variant of the 5HT2A gene may be one of the genetic risk factors for OCD in our sample. However, further studies using larger samples and family based methods are recommended to confirm these findings.

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Keywords

202 control subjects
 
5HT2A gene
 
79 OCD patients
 
allelic frequencies
 
C516T 5HT2A gene polymorphism
 
COMT gene
 
control groups
 
cross-sectional study
 
disease pathogenesis
 
genetic risk factors
 
genotypic distribution
 
genotypic frequencies
 
larger samples
 
precise mechanism
 
regulatory region
 
serotonin receptor type 2A
 
serotonin transporter gene
 
statistically significant difference
 
strong genetic factor
 
T102C 5HT2A gene polymorphisms