A new study by UCLA scientists adds to the understanding of the genetic architecture of schizophrenia. Past research has shown the impact of commonly occurring genetic variants on a person’s risk of developing schizophrenia. This new study focused instead on rare coding mutations that affect protein function. It found that people with schizophrenia have a higher-than-normal share of these mutations. “While we cannot point to specific mutations that play a causal role in schizophrenia, we show that schizophrenia patients, collectively, have more of these mutations than unaffected individuals,” said Dr. Loes Olde Loohuis, the study’s first author and a postdoctoral fellow at UCLA’s Center for Neurobehavioral Genetics. The Center is part of the UCLA’s Jane and Terry Semel Institute for Neuroscience and Human Behavior. The findings were published online on July 9, 2015 in an open-access article in Nature Communications. The article is titled “Genome-Wide Burden of Deleterious Coding Variants Increased in Schizophrenia.” “Genes that are affected by these mutations play a key role in fetal brain development,” said Dr. Roel Ophoff, the study’s senior author and a principal investigator at the Center for Neurobehavioral Genetics. “Our finding further supports the hypothesis that schizophrenia is a disorder that may originate during the early stages of brain development.” A professor of psychiatry and human genetics, Dr. Ophoff has conducted research on the genetic basis of schizophrenia for the past decade. He is also one of the founding members of the Psychiatric Genomics Consortium’s schizophrenia study group. The consortium is an international collaboration of researchers investigating the genetics of schizophrenia and related disorders.
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