Purcell et al. analysed the exome sequences of 2,536 schizophrenia cases and 2,543 controls and identified a polygenic burden primarily arising from rare, disruptive mutations distributed across many genes. The genes encoding voltage-gated calcium ion channel and the signalling complex formed by the ARC protein of the postsynaptic density were particularly enriched.

A polygenic burden of rare disruptive mutations in schizophrenia. Purcell et al. Nature. 2014 Feb 13;506(7487):185-90. PMID: 24463508

Posted by Yannis Trakadis, MD