A professor participates in complementary studies linking genes and increasing the risk of schizophrenia | UCI News

Marquis Vawter, Ph.D., a research professor in the Department of Psychiatry and Human Behavior at the UCI School of Medicine, participated in complementary studies published in Nature, analyze regions of the human genome associated with an increased risk of schizophrenia. The researchers knew that the disease had a 60-80% heritability and wanted to determine common and rare risk factors involving one or more genes. Both studies were conducted by researchers from Cardiff University in Wales and the Broad Institute of MIT and Harvard. Vawter’s role was to confirm the diagnosis of schizophrenia according to strict criteria accepted in the psychiatric genetic community, while his laboratory extracted and purified high-quality DNA and forwarded the samples to the National Institute of Mental Health Repository & Genomics Resource. . The team located 287 regions of the genome and identified more than 120 genes significantly associated with risk. In the complementary study, extremely rare protein-disrupting mutations in 10 genes were discovered, which increase the risk of developing schizophrenia by up to 50%. “Protein modifications are ultra-rare and therefore unlikely to represent more than a small percentage of individuals with the disease,” says Vawter. “However, both studies attribute genes in neurons with synaptic biology functions as increasing the lifetime risk of developing schizophrenia.” The studies were funded by NIMH grants and involved more than 460,000 participants.

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