ArticleBMC medical genomics2017
High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder.
Article in BMC medical genomics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 35 citations in OpenAlex.
- The genetics of trichotillomania and excoriation disorder: A systematic review.Comprehensive psychiatry · 2024Pooled it
- Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.HGG advances · 2024Pooled it
- Chromosome Microarray Analysis of 3832 Patients over 15 Years Confirms Genome-Wide Copy Number Variation in Patients with Developmental Disabilities Including Autism.Current issues in molecular biology · 2026Article
- Brain functional abnormalities: a bridge between insulin signaling pathway gene polymorphisms and clinical cognition in early-onset obsessive-compulsive disorder.European child & adolescent psychiatry · 2026Article
- A burden of rare copy number variants in obsessive-compulsive disorder.Molecular psychiatry · 2025Article
- Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.Genes, brain, and behavior · 2024Article
- Article
- Identification of Key Genes Related to the Obesity Patients with Osteoarthritis Based on Weighted Gene Coexpression Network Analysis (WGCNA).Computational and mathematical methods in medicine · 2022Article
- Genetics of obsessive-compulsive disorder.Psychological medicine · 2021Review
- A dimensional perspective on the genetics of obsessive-compulsive disorder.Translational psychiatry · 2021Review
- High-resolution chromosomal microarray analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability.Journal of neural transmission (Vienna, Austria : 1996) · 2020Article
- Cutting-edge genetics in obsessive-compulsive disorder.Faculty reviews · 2020Review
- Nordic OCD & Related Disorders Consortium: Rationale, design, and methods.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020Article
- Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome.Nature communications · 2019Article
- ThePharmacogenomics · 2019Review
- Diagnostic Issues in Early-Onset Obsessive-Compulsive Disorder and their Treatment Implications.Current neuropharmacology · 2019Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundObsessive-Compulsive Disorder (OCD) is a common and chronic disorder in which a person has uncontrollable, reoccurring thoughts and behaviours. It is a complex genetic condition and, in case of early onset (EO), the patients manifest a more severe phenotype, and an increased heritability. Large (>500 kb) copy number variations (CNVs) previously associated with autism and schizophrenia have been reported in OCD. Recently, rare CNVs smaller than 500 kb overlapping risk loci for other neurodevelopmental conditions have also been reported in OCD, stressing the importance of examining CNVs of any size range. The aim of this study was to further investigate the role of rare and small CNVs in the aetiology of EO-OCD.
methodsWe performed high-resolution chromosomal microarray analysis in 121 paediatric OCD patients and in 124 random controls to identify rare CNVs (>50 kb) which might contribute to EO-OCD.
resultsThe frequencies and the size of the observed rare CNVs in the patients did not differ from the controls. However, we observed a significantly higher frequency of rare CNVs affecting brain related genes, especially deletions, in the patients (OR = 1.98, 95% CI 1.02-3.84; OR = 3.61, 95% CI 1.14-11.41, respectively). Similarly, enrichment-analysis of CNVs gene content, performed with three independent methods, confirmed significant clustering of predefined genes involved in synaptic/brain related functional pathways in the patients but not in the controls. In two patients we detected de-novo CNVs encompassing genes previously associated with different neurodevelopmental disorders (NRXN1, ANKS1B, UHRF1BP1).
conclusionsOur results further strengthen the role of small rare CNVs, particularly deletions, as susceptibility factors for paediatric OCD.
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