Holmans, Peter Alan  ORCID: https://orcid.org/0000-0003-0870-9412, Green, Elaine Karen, Pahwa, Jaspreet Singh, Ferreira, Manuel A.R., Purcell, Shaun M., Sklar, Pamela, The Wellcome Trust Case-Control Consortium, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Craddock, Nicholas Johon ORCID: https://orcid.org/0000-0003-2171-0610
2009.
Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder.
American Journal of Human Genetics
85
(1)
, pp. 13-24.
10.1016/j.ajhg.2009.05.011
|
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.
| Item Type: | Article |
|---|---|
| Date Type: | Publication |
| Status: | Published |
| Schools: | Research Institutes & Centres > MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Schools > Medicine Research Institutes & Centres > Systems Immunity Research Institute (SIURI) Research Institutes & Centres > Neuroscience and Mental Health Research Institute (NMHII) |
| Subjects: | Q Science > QH Natural history > QH426 Genetics R Medicine > R Medicine (General) |
| Publisher: | Elsevier |
| ISSN: | 0002-9297 |
| Last Modified: | 19 Oct 2022 10:15 |
| URI: | https://orca.cardiff.ac.uk/id/eprint/23728 |
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