查看文章

Background: Psychiatric disorders, particularly in psychotic disorders like schizophrenia, have seen significant progress in loci discovery, with common regulatory variants and ultra-rare coding variants in individual genes identified at genome-wide significance. Despite this success, the degree to which clinical presentation is influenced by different types of genetic risk has not been fully explored, with such efforts hampered by limited data in current studies and exacerbated by the imprecision of diagnostic criteria across disorders.

Methods: Here, we present the SUPER psychosis study, a comprehensive nation-wide effort in Finland to recruit 10,417 individuals diagnosed with schizophrenia, bipolar disorder or major depressive disorder with psychotic features. All individuals underwent standardized psychiatric interviews and questionnaires with accessible electronic health record data from a national registry …