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Assessment of cognition and personality as potential endophenotypes in the Western Australian Family Study of Schizophrenia

Citation

McCarthy, NS and Badcock, JC and Clark, ML and Knowles, EEM and Cadby, G and Melton, PE and Morgan, VA and Blangero, J and Moses, EK and Glahn, DC and Jablensky, A, Assessment of cognition and personality as potential endophenotypes in the Western Australian Family Study of Schizophrenia, Schizophrenia Bulletin, 44, (4) pp. 908-921. ISSN 0586-7614 (2018) [Refereed Article]

Copyright Statement

Copyright 2017 The Author(s). Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center.

DOI: doi:10.1093/schbul/sbx141

Abstract

Phenotypic heterogeneity is a major barrier to understanding the genetic architecture underlying schizophrenia. Incorporating endophenotypes is one way to reduce heterogeneity and facilitate more powerful genetic analysis. Candidate endophenotypes require systematic assessment against endophenotype criteria, and a ranking of their potential utility for genetic analysis. In this study we assess 20 cognitive and personality measures in a sample of 127 families with at least 2 cases of schizophrenia per family (n = 535) plus a set of 30 control families (n = 121) against 4 endophenotype criteria: (a) be associated with the illness but not be a part of its diagnosis, (b) be heritable, (c) co-segregate with the illness in families, and (d) be found in unaffected relatives at a higher rate than in the general population. The endophenotype ranking score (endophenotype ranking variable [ERV]) was used to rank candidate endophenotypes based on their heritability and genetic correlation with schizophrenia. Finally, we used factor analysis to explore latent factors underlying the cognitive and personality measures. Evidence for personality measures as endophenotypes was at least equivalent to that of the cognitive measures. Factor analysis indicated that personality and cognitive traits contribute to independent latent dimensions. The results suggest for this first time that a number of cognitive and personality measures are independent and informative endophenotypes. Use of these endophenotypes in genetic studies will likely improve power and facilitate novel aetiological insights.

Item Details

Item Type:Refereed Article
Keywords:schizophrenia, hertiability, endophenotypes, genetic architecture, Western Australia family study of schizophrenia
Research Division:Health Sciences
Research Group:Health services and systems
Research Field:Mental health services
Objective Division:Expanding Knowledge
Objective Group:Expanding knowledge
Objective Field:Expanding knowledge in psychology
UTAS Author:Melton, PE (Dr Phillip Melton)
ID Code:142272
Year Published:2018
Web of Science® Times Cited:5
Deposited By:Menzies Institute for Medical Research
Deposited On:2021-01-05
Last Modified:2021-03-23
Downloads:0

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