In the first analysis of its kind, researchers at Columbia University Vagelos College of Physicians and Surgeons and several other institutions have linked distinct patterns of genetic mutations with obsessive-compulsive disorder (OCD) in humans.
The work, published online June 28 in Nature Neuroscience, confirms the validity of targeting specific genes to develop new OCD treatments and points toward novel avenues for studying this often debilitating condition.
OCD, which affects 1% to 2% of the population, often runs in families and genes are known to play a large role in determining who develops the disease. However, the identity of many OCD genes remains unknown.
“Many neurological diseases are influenced by strongly acting mutations which can cause disease by themselves,” says David Goldstein, Ph.D., director of the Institute for Genomic Medicine at Columbia and a senior author on the new paper. “These mutations are individually very rare but important to find because they can provide a starting point for the development of therapeutics that target precise underlying causes of disease.”
Although strongly acting mutations have been hypothesized to exist in OCD, statistically reliable evidence has been difficult to obtain. Most previous studies on the genetics of OCD have used a “candidate gene” approach, in which researchers focus on plausible genes that might be involved in pathogenesis and look for genetic signatures of risk. Although that approach has had some successes, it can lead to challenges in statistical interpretation and can miss unexpected genes. As a result, both funding agencies and the pharmaceutical industry increasingly focus on genome-wide analyses that can securely implicate genes in disease risk.
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