title: Cognitive intermediate phenotype and genetic risk for psychosis.
abstract: Intermediate phenotypes (IPs) are defined as measurable liability traits underlying complex phenotypes, posited to be more genetically tractable than the phenotypes themselves. Here we review evidence for cognition as an IP of psychosis, and highlight topical advances in the literature: first, heritability estimation of cognitive abilities using genomewide complex-trait analysis; second, evidence that cognition lies upstream to schizophrenia liability; third, use of polygenic risk scores rather than single genetic variants to examine genetic overlap between cognitive IPs and schizophrenia; and fourth, use of cognitive IPs for schizophrenia risk gene discovery and functional characterization. We end with future directions in using cognitive IPs to study genetic risk of psychosis, including methodological refinements and shifting research focus from identifying IPs to using them.
authors.affiliation: Department of Psychology, The University of Hong Kong, Hong Kong Special Administrative Region.
authors.forename: Winifred
authors.initials: W
authors.lastname: Mark
authors.affiliation: Department of Psychology, The University of Hong Kong, Hong Kong Special Administrative Region; The State Key Laboratory of Brain and Cognitive Sciences, The University of Hong Kong, Hong Kong Special Administrative Region; Department of Basic and Clinical Neuroscience, The Institute of Psychiatry, Psychology and Neuroscience, King's College London, UK. Electronic address: timothea@hku.hk.
authors.forename: Timothea
authors.initials: T
authors.lastname: Toulopoulou
mesh_terms: D003071:Cognition / Q000502:physiology; D003072:Cognition Disorders / Q000235:genetics* / Q000503:physiopathology; D058068:Endophenotypes; D020022:Genetic Predisposition to Disease; D006801:Humans; D008570:Memory, Short-Term / Q000502:physiology; D010641:Phenotype; D011618:Psychotic Disorders / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D012559:Schizophrenia / Q000235:genetics* / Q000503:physiopathology; D012565:Schizophrenic Psychology