The emerging spectrum of allelic variation in schizophrenia: current evidence and strategies for the identification and functional characterization of common and rare variants

Mowry, B. J. and Gratten, J. (2012) The emerging spectrum of allelic variation in schizophrenia: current evidence and strategies for the identification and functional characterization of common and rare variants. Molecular Psychiatry, 18 1: 38-52. doi:10.1038/mp.2012.34

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Author Mowry, B. J.
Gratten, J.
Title The emerging spectrum of allelic variation in schizophrenia: current evidence and strategies for the identification and functional characterization of common and rare variants
Journal name Molecular Psychiatry   Check publisher's open access policy
ISSN 1476-5578
1359-4184
Publication date 2012-05-01
Year available 2013
Sub-type Article (original research)
DOI 10.1038/mp.2012.34
Open Access Status Not yet assessed
Volume 18
Issue 1
Start page 38
End page 52
Total pages 15
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Subject 1312 Molecular Biology
2804 Cellular and Molecular Neuroscience
2738 Psychiatry and Mental health
Abstract After decades of halting progress, recent large genome-wide association studies (GWAS) are finally shining light on the genetic architecture of schizophrenia. The picture emerging is one of sobering complexity, involving large numbers of risk alleles across the entire allelic spectrum. The aims of this article are to summarize the key genetic findings to date and to compare and contrast methods for identifying additional risk alleles, including GWAS, targeted genotyping and sequencing. A further aim is to consider the challenges and opportunities involved in determining the functional basis of genetic associations, for instance using functional genomics, cellular models, animal models and imaging genetics. We conclude that diverse approaches will be required to identify and functionally characterize the full spectrum of risk variants for schizophrenia. These efforts should adhere to the stringent standards of statistical association developed for GWAS and are likely to entail very large sample sizes. Nonetheless, now more than any previous time, there are reasons for optimism and the ultimate goal of personalized interventions and therapeutics, although still distant, no longer seems unattainable.
Keyword CNV
Functional genomics
GWAS
Schizophrenia
Sequencing
SNP
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID 631406
Institutional Status UQ
Additional Notes Advance online publication 1 May 2012 ; "Expert Review"

Document type: Journal Article
Sub-type: Article (original research)
Collections: Queensland Brain Institute Publications
Official 2013 Collection
 
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Citation counts: TR Web of Science Citation Count  Cited 46 times in Thomson Reuters Web of Science Article | Citations
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Created: Wed, 11 Jul 2012, 02:45:10 EST by Debra McMurtrie on behalf of Queensland Brain Institute