International research consortia have analyzed common and rare DNA variants in hundreds of thousands of people, revealing clearest genetic signals yet for schizophrenia risk.
Two landmark genetic studies on schizophrenia have just appeared together in the journal Nature.
The first study of more than 121,000 people, from an international consortium called SCHEMA, identified extremely rare protein-disrupting mutations in 10 genes that strongly increase an individual's risk of developing schizophrenia. A second, complementary study in a larger but overlapping group of 320,400 people, conducted by the Psychiatric Genomics Consortium (PGC), brings to 287 the number of regions of the genome associated with schizophrenia risk.
Together, these studies underscore an emerging view of schizophrenia as a breakdown in communication at the synapse (the junction between neurons), and illustrate how different kinds of genetic variation affecting the same genes can influence the risk for different psychiatric and neurodevelopmental disorders.
The SCHEMA and PGC findings are the fruit of a decade-long push led by researchers in the Stanley Center, Broad Institute of MIT and Harvard, and nearly fifty other institutions around the world, including the University of Helsinki and the Finnish Institute for Health and Welfare.
By working together, investigators across the PGC have built a dataset that now includes more than 320,400 people from collections across the world. The SCHEMA cohort comprises a subset of that, representing more than 121,000 people, including almost 1000 Finnish schizophrenia patients and more than 8000 controls.
