Study uses polygenic risk scores to determine schizophrenia risk in patients with chromosome deletion syndrome

A new study involving researchers from Children’s Hospital of Philadelphia (CHOP) has uncovered genetic clues that may help identify which patients with chromosome 22q11.2 deletion syndrome (22q11.2DS) might develop schizophrenia. The findings, published in Nature Medicine, highlight the potential of polygenic scores, which account for the effects of numerous common genetic variants across the genome, to determine whether a patient is at high or low risk of developing the psychiatric condition.

22q11.2DS results from a missing segment of approximately 45 genes on one copy of chromosome 22 and is the most common genetic cause of schizophrenia, occurring in nearly 30% of patients with the deletion. However, not all patients with the condition go on to develop schizophrenia, which prompted the researchers to explore the potential contributions of other genetic variants across the genome.

Using genetic data from the International 22q11.2 Brain and Behavior Consortium (IBBC), a large NIH-funded consortium led by CHOP and the Perelman School of Medicine at the University of Pennsylvania, the researchers analyzed 965 patients with 22q11DS and evaluated genetic associations using polygenic risk scores for schizophrenia and cognitive ability. The research team found polygenic risk scores were key in assessing the probability of a given patient developing schizophrenia or cognitive decline.

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