Новое исследование связывает генетические маркеры с обсессивно-компульсивным расстройством

Obsessive-compulsive disorder (OCD) remains a challenging mental health condition, with unclear causes and varying symptoms among individuals. Recent research led by a team from the University of Florida has made strides in understanding the genetic factors associated with OCD, analyzing the DNA of over 53,000 individuals with the disorder compared to more than 2 million without it. This represents the largest genetic study of OCD to date.

OCD affects approximately 1 in 50 people worldwide, making it one of the leading causes of disability. The disorder is characterized by obsessions—intrusive thoughts, fears, or mental images—and compulsions, which are repetitive behaviors performed to alleviate the anxiety caused by these obsessions. Common compulsions include excessive handwashing or avoiding certain places to prevent triggering anxiety.

While environmental factors play a role, genetic factors are significant, accounting for 40% to 65% of OCD cases, especially when the disorder begins in childhood. Unlike single-gene disorders such as cystic fibrosis, OCD is influenced by hundreds to thousands of genes, each contributing a small risk.

The researchers identified 30 genomic regions associated with OCD, highlighting 249 genes of interest. Notably, 25 genes were identified as likely contributors to OCD development, with three of them also linked to other mental health conditions like depression and schizophrenia. Several genes were found in areas associated with immunity, suggesting a potential link between OCD and immune system functioning.

The study employed genome-wide association studies (GWAS), which compare the genetic material of those with OCD to those without to identify genetic markers related to the disorder. This method helps researchers pinpoint areas in the brain that may malfunction in individuals with OCD, including regions involved in planning, decision-making, and emotion regulation.

Specific brain cells, particularly medium spiny neurons in the striatum, showed strong associations with the identified OCD genes. These neurons are critical in habit formation, a key aspect of compulsive behaviors in OCD. The findings indicate that certain medication targets, commonly used in treating OCD, interact with these neurons.

Additionally, the research uncovered genetic links between OCD and other psychiatric disorders such as anxiety, depression, and Tourette syndrome. Interestingly, individuals with OCD exhibited a lower genetic risk for conditions like alcohol dependence, which aligns with clinical observations of OCD patients being more cautious.

The study also revealed connections between OCD and immune-related conditions. While it suggested increased risks for asthma and migraines in those with OCD, it also indicated a reduced risk for inflammatory bowel disease, hinting at the immune system’s potential role in OCD.

As the study advances our understanding of OCD’s genetic landscape, researchers aim to develop more precise diagnostic tools and personalized treatment options. By linking specific biological markers to individual symptoms, there is hope for improved outcomes for the millions affected by OCD worldwide. Carol Mathews, a professor at the University of Florida and a lead researcher, emphasizes the importance of continued research to enhance the lives of those living with this condition.