Scientists have long puzzled over the cause of schizophrenia, but important new clues about the genetic basis of this devastating psychiatric disorder have emerged in a landmark study led by investigators at the Analytic and Translational Genetics Unit (ATGU) at MGH and the Broad Institute of MIT and Harvard, according to a news release.
In the study, published in the journal Nature, researchers performed whole exome sequencing—which scans the portion of the genome that encodes proteins—for 24,248 people with schizophrenia and 97,322 who don’t have the disorder. The analysis identified very rare variants in 10 genes that dramatically increase the risk for schizophrenia, by as much as 52-fold.
This study, conducted by members of the global SCHEMA (Schizophrenia Exome Meta-Analysis) Consortium, has been published in Nature with a complementary investigation of a larger group of subjects that identified dozens more common gene variants associated with schizophrenia.
In most cases, the increased risk for the disorder caused by these common variants is very small. However, both studies linked similar groups of genes to schizophrenia, which could help researchers better understand the biology of this disorder and serve the long-term goal of developing safer and more effective treatments.
