Polygenic Scores in Psychiatry: On the Road From Discovery to Implementation

Lewis and Vassos examine the polygenic scores in psychiatry. Genome-wide association studies (GWASs), which test genetic differences between case and control subjects for a psychiatric disorder, have now identified thousands of genetic variants associated with psychiatric disorders. These variants c...

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Bibliographic Details
Published in:The American journal of psychiatry 2022-11, Vol.179 (11), p.800-806
Main Authors: Lewis, Cathryn M., Vassos, Evangelos
Format: Article
Language:English
Subjects:
Genetic Predisposition to Disease
Genome-Wide Association Study
Genomes
Genomics
Humans
Meta-analysis
Multifactorial Inheritance - genetics
Psychiatry
Schizophrenia
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Summary:Lewis and Vassos examine the polygenic scores in psychiatry. Genome-wide association studies (GWASs), which test genetic differences between case and control subjects for a psychiatric disorder, have now identified thousands of genetic variants associated with psychiatric disorders. These variants can be combined into polygenic scores (PGSs), which provide an individual-level single measure of genetic loading. As a motivating example, they take the PGSs generated in the largest GWAS for schizophrenia from the Psychiatric Genomics Consortium (PGC), a meta-analysis of 76,755 individuals with schizophrenia and 243.649 control subjects without schizophrenia, with 25% of participants having non-European ancestry. This study identified 287 independent genetic variants associated with schizophrenia.
ISSN:0002-953X
1535-7228
DOI:10.1176/appi.ajp.20220795