Abstract
Copy number variations (CNVs) have been previously associated with several different neurodevelopmental psychiatric disorders, such as autism, schizophrenia, and attention deficit hyperactivity disorder (ADHD). The present study consisted of a pilot genome-wide screen for CNVs in a cohort of 16 patients with early-onset obsessive-compulsive disorder (OCD) and 12 mentally healthy individuals, using array-based comparative genomic hybridization (aCGH) on 44K arrays. A small rare paternal inherited microdeletion (∼64 kb) was identified in chromosome 15q13.3 of one male patient with very early onset OCD. The father did not have OCD. The deletion encompassed part of the FMN1 gene, which is involved with the glutamatergic system. This finding supports the hypothesis of a complex network of several genes expressed in the brain contributing for the genetic risk of OCD, and also supports the glutamatergic involvement in OCD, which has been previously reported in the literature.
Highlights
Twin and family studies provide strong evidence of the importance of genetic factors for the expression of obsessivecompulsive disorder (OCD) and other disorders in the obsessivecompulsive spectrum [1]
A recent meta-analysis of all genetic association studies of OCD, which provided sufficient information for data extraction, found that the disorder was associated with serotonin-related polymorphisms (5-HTTLPR and HTR2A) and that there may be significant sex differences in the genetic bases of the disease, with only male OCD patients carrying polymorphisms involved in catecholamine modulation (COMT and MAOA) [3]
The results showed evidence for an increased burden of pathogenic neurodevelopmental deletions in OCD/Tourette Syndrome (TS) patients compared with controls
Summary
Twin and family studies provide strong evidence of the importance of genetic factors for the expression of obsessivecompulsive disorder (OCD) and other disorders in the obsessivecompulsive spectrum [1]. The first Genome-Wide Association Study (GWAS) of OCD, which was recently published, analyzed 400 trios, 1,465 cases and 5,557 controls having found no associations between any SNPs (single nucleotide polymorphisms) and OCD at a genome-wide significant level in the combined trio-case-control sample. It is worth mentioning, that the top-ranked SNPs were related to transcriptional regulation and to glutamatergic neurotransmission and signaling [4]
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