Transcriptome outlier analysis implicates schizophrenia susceptibility genes and enriches putatively functional rare genetic variants

Duan, Jubao, Sanders, Alan R., Moy, Winton, Drigalenko, Eugene I., Brown, Eric C., Freda, Jessica, Leites, Catherine, Goering, Harald H. H., Gejman, Pablo V., Molecular Genetics of Schizophrenia Consortium and Mowry, Bryan (2015) Transcriptome outlier analysis implicates schizophrenia susceptibility genes and enriches putatively functional rare genetic variants. Human Molecular Genetics, 24 16: 4674-4685. doi:10.1093/hmg/ddv199


Author Duan, Jubao
Sanders, Alan R.
Moy, Winton
Drigalenko, Eugene I.
Brown, Eric C.
Freda, Jessica
Leites, Catherine
Goering, Harald H. H.
Gejman, Pablo V.
Molecular Genetics of Schizophrenia Consortium
Mowry, Bryan
Title Transcriptome outlier analysis implicates schizophrenia susceptibility genes and enriches putatively functional rare genetic variants
Journal name Human Molecular Genetics   Check publisher's open access policy
ISSN 1460-2083
0964-6906
Publication date 2015-04-01
Sub-type Article (original research)
DOI 10.1093/hmg/ddv199
Open Access Status Not yet assessed
Volume 24
Issue 16
Start page 4674
End page 4685
Total pages 12
Place of publication Oxford, United Kingdom
Publisher Oxford University Press
Language eng
Abstract We searched a gene expression dataset comprised of 634 schizophrenia (SZ) cases and 713 controls for expression outliers (i.e., extreme tails of the distribution of transcript expression values) with SZ cases overrepresented compared with controls. These outlier genes were enriched for brain expression and for genes known to be associated with neurodevelopmental disorders. SZ cases showed higher outlier burden (i.e., total outlier events per subject) than controls for genes within copy number variants (CNVs) associated with SZ or neurodevelopmental disorders. Outlier genes were enriched for CNVs and for rare putative regulatory variants, but this only explained a small proportion of the outlier subjects, highlighting the underlying presence of additional genetic and potentially, epigenetic mechanisms.
Q-Index Code CX
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Queensland Brain Institute Publications
 
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