Association between serotonergic candidate genes and specific phenotypes of obsessive compulsive disorder
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Updated: Aug 13, 2026

Signal Attenuation as a Rat Model of Obsessive Compulsive Disorder
Published on: January 9, 2015
Damiaan Denys1, Filip Van Nieuwerburgh, Dieter Deforce
1Rudolf Magnus Institute of Neuroscience, Department of Psychiatry University Medical Center Utrecht, Utrecht, The Netherlands. D.A.J.P.denys@azu.nl
Background:
The successful use of serotonin reuptake inhibitors (SRIs) in obsessive-compulsive disorder (OCD) has led to the hypothesis that serotonin plays a pivotal role in the pathogenesis of OCD. The purpose of the present study was to investigate the role of the serotonin transporter (5-HTT) and serotonin 5-HT1B and 5-HT2A receptor genes in OCD.
Method:
The distribution of polymorphic variants was analyzed in 156 OCD cases and 134 control individuals by means of case-control association studies. Potential relevant OCD phenotypes founded on age of onset, positive family history for OCD, clinical subtypes, comorbidity and symptom severity were stratified according to 5-HTT, 5-HT1B and 5-HT2A genotypes.
Results:
Patients did not show significant differences in genotype distribution and allele frequency for polymorphisms investigated relative to controls. However, taking in account OCD phenotypes, we found indication towards an association of the 5-HTTLPR S-allele with female OCD patients, and the 5-HT2A G-allele and GG genotype with patients with a positive family history of OCD and an early onset of disease.
Conclusions:
Our data yields interesting preliminary results as regards the genetic underpinnings of OCD phenotypes that warrant further discussion and investigation.
Insights
Genetic variations in serotonin transporter (5-HTT) and serotonin receptor genes (5-HT1B, 5-HT2A) show potential links to specific obsessive-compulsive disorder (OCD) phenotypes, particularly in females and early-onset cases.
Area of Science:
- Neuroscience
- Genetics
- Psychiatry
Background:
- Serotonin reuptake inhibitors (SRIs) efficacy in OCD suggests a role for serotonin.
- Investigating specific serotonin transporter (5-HTT) and receptor (5-HT1B, 5-HT2A) genes in OCD pathogenesis.
Purpose of the Study:
- To examine the association between genetic variations in 5-HTT, 5-HT1B, and 5-HT2A genes and obsessive-compulsive disorder (OCD).
- To explore potential links between these genetic polymorphisms and specific OCD phenotypes.
Main Methods:
- Case-control association studies were conducted on 156 OCD patients and 134 controls.
- Genotype distributions and allele frequencies for 5-HTT, 5-HT1B, and 5-HT2A polymorphisms were analyzed.
- OCD phenotypes (age of onset, family history, subtypes, comorbidity, severity) were stratified by genotype.
Main Results:
- No significant overall differences in genotype or allele frequencies were found between OCD patients and controls.
- An association was observed between the 5-HTTLPR S-allele and female OCD patients.
- The 5-HT2A G-allele and GG genotype were linked to OCD patients with a positive family history and early disease onset.
Conclusions:
- Preliminary findings suggest specific genetic underpinnings for distinct OCD phenotypes.
- Further research is warranted to elucidate the genetic basis of OCD subtypes and familial patterns.
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