Genetic relationships between schizophrenia, bipolar disorder, and schizoaffective disorder

• Published in: Schizophrenia bulletin Vol. 40; no. 3; pp. 504 - 515
• Main Authors: Cardno, Alastair G, Owen, Michael J
• Format: Journal Article
• Language: English
• Published: United States Oxford University Press 01.05.2014
• Subjects: Adoption; Bipolar Disorder - genetics; DNA Copy Number Variations; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Invited Themed; Phenotype; Psychotic Disorders - genetics; Schizophrenia - genetics; Twins - genetics; Twins - psychology; copy number variants; GWAS; adoption; twin; family studies
• ISSN: 0586-7614; 1745-1701
• DOI: 10.1093/schbul/sbu016

There is substantial evidence for partial overlap of genetic influences on schizophrenia and bipolar disorder, with family, twin, and adoption studies showing a genetic correlation between the disorders of around 0.6. Results of genome-wide association studies are consistent with commonly occurring genetic risk variants, contributing to both the shared and nonshared aspects, while studies of large, rare chromosomal structural variants, particularly copy number variants, show a stronger influence on schizophrenia than bipolar disorder to date. Schizoaffective disorder has been less investigated but shows substantial familial overlap with both schizophrenia and bipolar disorder. A twin analysis is consistent with genetic influences on schizoaffective episodes being entirely shared with genetic influences on schizophrenic and manic episodes, while association studies suggest the possibility of some relatively specific genetic influences on broadly defined schizoaffective disorder, bipolar subtype. Further insights into genetic relationships between these disorders are expected as studies continue to increase in sample size and in technical and analytical sophistication, information on phenotypes beyond clinical diagnoses are increasingly incorporated, and approaches such as next-generation sequencing identify additional types of genetic risk variant.