title: Genetic relationships between schizophrenia, bipolar disorder, and schizoaffective disorder.
abstract: 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.
authors.affiliation: *To whom correspondence should be addressed; Academic Unit of Psychiatry and Behavioural Sciences, Leeds Institute of Health Sciences, University of Leeds, Charles Thackrah Building, 101 Clarendon Road, Leeds LS2 9LJ, UK; tel: +44 113 3437260, fax: +44 113 3436997, e-mail: A.G.Cardno@leeds.ac.uk.
authors.forename: Alastair G
authors.initials: AG
authors.lastname: Cardno
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Owen
mesh_terms: D000300:Adoption; D001714:Bipolar Disorder / Q000235:genetics*; D056915:DNA Copy Number Variations; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D010641:Phenotype; D011618:Psychotic Disorders / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*; D014427:Twins / Q000235:genetics / Q000523:psychology
keywords: GWAS; adoption; copy number variants; family studies; twin