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Obsessive-Compulsive Disorder

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Obsessive-compulsive disorder (OCD) is a mental health condition characterized by recurrent obsessions, compulsions, or both, which consume significant time and interfere with daily functioning. Obsessions involve persistent, intrusive, and unwanted thoughts, images, or urges that evoke anxiety. Common examples include irrational fears of contamination or harm. Compulsions are repetitive behaviors or mental acts performed to reduce the anxiety caused by obsessions. For instance, individuals...

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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

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Published on: February 21, 2015

High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder.

Edna Grünblatt^1,2,3,4,5, Beatrice Oneda⁶, Arif B Ekici⁷

¹Department of Child and Adolescent Psychiatry and Psychotherapy, University Hospital of Psychiatry Zurich, University of Zurich, Neumünsterallee 9, 8032, Zürich, Switzerland. edna.gruenblatt@kjpd.uzh.ch.

BMC Medical Genomics

|November 29, 2017

Summary

This summary is machine-generated.

Small rare copy number variations (CNVs) are linked to early-onset obsessive-compulsive disorder (OCD). Deletions affecting brain-related genes were more frequent in pediatric OCD patients, suggesting a role in susceptibility.

Keywords:

CNV De-novo Early-onset Enrichment analysis OCD

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Area of Science:

Genetics
Neuroscience
Pediatrics

Background:

Obsessive-Compulsive Disorder (OCD) is a chronic mental health condition with a significant genetic component.
Early-onset OCD (EO-OCD) presents with a more severe phenotype and increased heritability.
Previous research identified large copy number variations (CNVs) associated with OCD, autism, and schizophrenia.

Purpose of the Study:

To investigate the role of rare and small CNVs in the etiology of early-onset OCD.
To identify specific genetic factors contributing to pediatric OCD.

Main Methods:

High-resolution chromosomal microarray analysis was performed on 121 pediatric OCD patients and 124 controls.
Identified rare CNVs greater than 50 kb.
Utilized enrichment analysis with three independent methods to assess gene content of CNVs.

Main Results:

No significant difference in the overall frequency or size of rare CNVs between patients and controls.
A significantly higher frequency of rare CNVs affecting brain-related genes, particularly deletions, was observed in pediatric OCD patients.
Enrichment analysis confirmed significant clustering of genes involved in synaptic/brain pathways in patients.
De novo CNVs encompassing known neurodevelopmental disorder genes (NRXN1, ANKS1B, UHRF1BP1) were identified in two patients.

Conclusions:

Small rare CNVs, especially deletions, are implicated as susceptibility factors for pediatric OCD.
These findings highlight the importance of examining CNVs of all sizes in OCD research.
The study underscores the genetic overlap between OCD and other neurodevelopmental conditions.