Jul 27, 2014

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

Journal of the American Academy of Child and Adolescent Psychiatry
Lauren M McGrathJeremiah M Scharf

Abstract

Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date. The primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls. Parental data facilitated a de novo analysis in 348 OCD trios. Although no global CNV burden was detected in the cross-disorder analysis or in secondary, disease-specific analyses, there was a 3.3-fold increased burden of large deletions previously associated with other neurodevelopmental disorders (p = .09). Half of these neurodevelopmental deletions were located in a single locus, 16p13.11 (5 case patient deletions: 0 control deletions, p = .08 in the current study, p = .025 compared to published controls). Three 16p13.11 deletions were confirmed de novo, providing further support for the etiological significance of this region. The overall OCD de novo rate was 1.4%, which is intermediate between published rates in controls (0.7%) and in individuals with auti...Continue Reading

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Citations

Mentioned in this Paper

CALCA gene
Real-Time Polymerase Chain Reaction
Genome-Wide Association Study
22q11.21
CALCA wt Allele
Diagnostic and Statistical Manual of Mental Disorders
DNA Copy Number Changes
Genome
Schizophrenia
Pathogenic Organism

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