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Cognitive intermediate phenotype and genetic risk for psychosis
Winifred Mark1, Timothea Toulopoulou2
1Department of Psychology, The University of Hong Kong, Hong Kong Special Administrative Region.
Current Opinion in Neurobiology
|September 13, 2015
Summary
Cognition serves as an intermediate phenotype (IP) for psychosis, offering a more genetically tractable target. Research increasingly uses cognitive IPs and polygenic risk scores to understand schizophrenia genetics.
Area of Science:
- Neuroscience
- Psychiatry
- Genetics
Background:
- Complex phenotypes like psychosis are difficult to study genetically.
- Intermediate phenotypes (IPs) are measurable traits linked to complex conditions.
- Cognitive abilities are proposed as IPs for psychosis.
Purpose of the Study:
- To review evidence supporting cognition as an IP of psychosis.
- To highlight advances in using cognitive IPs for schizophrenia research.
- To discuss future directions in studying psychosis genetics via IPs.
Main Methods:
- Heritability estimation of cognitive abilities using genomewide complex-trait analysis.
- Examining genetic overlap between cognitive IPs and schizophrenia using polygenic risk scores.
- Utilizing cognitive IPs for schizophrenia risk gene discovery and functional characterization.
Main Results:
- Cognitive abilities show significant heritability.
- Evidence suggests cognition precedes schizophrenia liability.
- Polygenic risk scores reveal genetic overlap between cognition and schizophrenia.
- Cognitive IPs aid in identifying and characterizing schizophrenia risk genes.
Conclusions:
- Cognition is a valuable intermediate phenotype for studying psychosis.
- Advanced genetic methods like polygenic risk scores enhance IP utility.
- Future research should focus on leveraging cognitive IPs for genetic discoveries in psychosis.
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