Study by Purcell and collaborators. 2500 cases and 2500 controls were exome-sequenced and analyzed for rare, disruptive variants. The authors find neither an exome-wide enrichment nor a significant enrichment of single genes. However, when focusing on schizophrenia-related gene set, they find a significant enrichment. Even the most comprehensive gene set only provides excess of 0.07 variants per case, i.e. on average an excess variant in 1:15 patient with schizophrenia.
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany