A new study published in the Journal of the American Academy of Child & Adolescent Psychiatry has made a significant breakthrough in understanding the genetic roots of obsessive-compulsive disorder (OCD). Researchers used advanced DNA sequencing technology to identify a rare type of genetic variation, known as copy number variants (CNVs), that is linked to the development of OCD.
The study found that children with OCD have significantly higher rates of CNVs than healthy children. Specifically, 7 out of every 100 patients with OCD had these variations, compared to only 0.5 out of every 100 healthy children. This suggests that genetic factors play a crucial role in the development of OCD.
CNVs are variations in the number of copies of a specific DNA segment among different individuals. These differences can arise through duplications or deletions and may be inherited or appear for the first time in an individual. The study found that 75% of the genetic variants identified in patients with OCD were considered potentially harmful, whereas none were identified in healthy controls.
The findings support previous studies by the same group and help build a more complete picture of how genetics contributes to and influences the development of OCD. The research paves the way for future studies into earlier diagnosis and targeted treatments.
The study used whole exome sequencing (WES) analysis on data from 183 families with OCD and 771 without the disorder. The researchers hope that the CNV detections will assist other groups with future integrated analyses.
This discovery is an important step forward in understanding the genetic roots of OCD, although it should be viewed as part of a larger puzzle. The research has significant implications for the development of better treatments and could eventually lead to improved quality of life for individuals with OCD.
Source: https://medicalxpress.com/news/2025-06-sequencing-reveals-rare-genetic-variation.html