Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder

Holmans, P., Green, E. K., Pahwa, J. S., Ferreira, M. A. R., Purcell, S. M., Sklar, P., Wellcome Trust Case Control Consortium, Brown, Matthew A., Bradbury, Linda, Owen, M. J., O'Donnovan, M. C. and Craddock, N. (2009) Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder. American Journal of Human Genetics, 85 1: 13-24. doi:10.1016/j.ajhg.2009.05.011

Author Holmans, P.
Green, E. K.
Pahwa, J. S.
Ferreira, M. A. R.
Purcell, S. M.
Sklar, P.
Wellcome Trust Case Control Consortium
Brown, Matthew A.
Bradbury, Linda
Owen, M. J.
O'Donnovan, M. C.
Craddock, N.
Title Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder
Journal name American Journal of Human Genetics   Check publisher's open access policy
ISSN 0002-9297
Publication date 2009-07-10
Year available 2009
Sub-type Article (original research)
DOI 10.1016/j.ajhg.2009.05.011
Volume 85
Issue 1
Start page 13
End page 24
Total pages 12
Editor C. C. Morton
Place of publication United States
Publisher Cell Press
Language eng
Subject C1
970111 Expanding Knowledge in the Medical and Health Sciences
970117 Expanding Knowledge in Psychology and Cognitive Sciences
060408 Genomics
060405 Gene Expression (incl. Microarray and other genome-wide approaches)
Abstract We present a method for testing overrepresentation of biological pathways, indexed by gene-ontology terms, in lists of significant SNPs from genome-wide association studies. This method corrects for linkage disequilibrium between SNPs, variable gene size, and multiple testing of nonindependent pathways. The method was applied to the Wellcome Trust Case-Control Consortium Crohn disease (CD) data set. At a general level, the biological basis of CD is relatively well known for a complex genetic trait, and it thus acted as a test of the method. The method, known as ALIGATOR (Association LIst Go AnnoTatOR), successfully detected biological pathways implicated in CD. The method was also applied to a meta-analysis of bipolar disorder, and it implicated the modulation of transcription and cellular activity, including that which occurs via hormonal action, as an important player in pathogenesis.
Keyword Genome-wide Association
Q-Index Code C1
Q-Index Status Confirmed Code

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2010 Higher Education Research Data Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 254 times in Thomson Reuters Web of Science Article | Citations
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Created: Wed, 14 Apr 2010, 21:32:13 EST by Kylie Hengst on behalf of UQ Diamantina Institute