Copy number variant risk loci for schizophrenia converge on the BDNF pathway.
Friederike EhrhartAna Isabel SilvaTherese A M J van AmelsvoortEmma N M M von ScheiblerChris T A EveloDavid E J LindenPublished in: The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry (2024)
Our findings suggest that specific pathways - BDNF signalling - are critical contributors to schizophrenia risk conferred by rare CNVs. Our approach highlights the importance of not only investigating deleted or duplicated genes within pathogenic CNV loci, but also study their direct interaction partners, which may explain pleiotropic effects of CNVs on schizophrenia risk and offer a broader field for interventions.