Increased rare duplication burden genomewide in patients with treatment-resistant schizophrenia

Martin, A. K. and Mowry, B. (2016) Increased rare duplication burden genomewide in patients with treatment-resistant schizophrenia. Psychological Medicine, 46 3: 469-476. doi:10.1017/S0033291715001701

Author Martin, A. K.
Mowry, B.
Title Increased rare duplication burden genomewide in patients with treatment-resistant schizophrenia
Journal name Psychological Medicine   Check publisher's open access policy
ISSN 0033-2917
Publication date 2016-09-09
Year available 2015
Sub-type Article (original research)
DOI 10.1017/S0033291715001701
Open Access Status Not Open Access
Volume 46
Issue 3
Start page 469
End page 476
Total pages 8
Place of publication Cambridge, United Kingdom
Publisher Cambridge University Press
Language eng
Formatted abstract
Background A significant number of patients with schizophrenia fail to respond to antipsychotic medication. Although several studies have investigated associated patient characteristics, the emerging findings from genetic studies offer further scope for study.

Method In 612 schizophrenia patients with detailed clinical information, common genetic variants indexed by polygenic risk scores, and rare variants indexed by deletion and duplication burden genomewide, we explored potential genetic predictors alongside other established risk factors for treatment resistance. Clinical outcomes of treatment resistance were also calculated using lifetime measures of positive, negative/disorganized and mood symptoms as well as number of hospitalizations and suicide attempts.

Results Logistic regression models identified a significant relationship between treatment resistance and total duplication burden genomewide, years of formal schooling and age at onset. Clinically, treatment-resistant patients were characterized by greater negative/disorganized and positive symptoms and greater number of hospitalizations.

Conclusions Taken together, these findings suggest genetic information, specifically the genomewide burden of rare copy number variants, may increase our understanding and clinical management of patients with treatment-resistant schizophrenia.
Keyword Age at onset
Copy number variants
Predictive models
Q-Index Code C1
Q-Index Status Provisional Code
Grant ID 631671
RO1 MH59588
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Queensland Brain Institute Publications
Faculty of Medicine
Official 2016 Collection
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Citation counts: TR Web of Science Citation Count  Cited 7 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 8 times in Scopus Article | Citations
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