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A Burden of Rare Copy Number Variants in Obsessive-Compulsive Disorder
Matthew Halvorsen1, Elles de Schipper, Julia Boberg
1University of North Carolina at Chapel Hill.
Research Square
|January 23, 2024
Summary
Large, rare copy number variants (CNVs) contribute to obsessive-compulsive disorder (OCD) risk, particularly deletions in intolerant genes. These genetic variations also correlate with comorbid autism and reduced treatment response in OCD patients.
Area of Science:
- Genetics
- Neuroscience
- Psychiatry
Background:
- Previous genetic research on obsessive-compulsive disorder (OCD) has identified contributions from common single nucleotide variants (SNVs), rare coding SNVs, and small insertion-deletions (indels).
- The role of large, rare copy number variants (CNVs) in OCD risk has not been extensively studied at scale.
Conclusions:
- Large, rare CNVs represent a significant genetic risk factor for OCD.
- CNVs overlapping neurodevelopmental genes are associated with specific clinical features, including autism comorbidity and reduced treatment efficacy.
- Incorporating analysis of rare CNVs can enhance the power of genetic studies to identify OCD risk genes.
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