Journal article
Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders
European journal of human genetics : EJHG, Vol.19(10), pp.1082-1089
10/2011
DOI: 10.1038/ejhg.2011.75
PMCID: PMC3190264
PMID: 21522181
Abstract
Recent genome-wide association studies (GWAS) have implicated a range of genes from discrete biological pathways in the aetiology of autism. However, despite the strong influence of genetic factors, association studies have yet to identify statistically robust, replicated major effect genes or SNPs. We apply the principle of the SNP ratio test methodology described by O'Dushlaine et al to over 2100 families from the Autism Genome Project (AGP). Using a two-stage design we examine association enrichment in 5955 unique gene-ontology classifications across four groupings based on two phenotypic and two ancestral classifications. Based on estimates from simulation we identify excess of association enrichment across all analyses. We observe enrichment in association for sets of genes involved in diverse biological processes, including pyruvate metabolism, transcription factor activation, cell-signalling and cell-cycle regulation. Both genes and processes that show enrichment have previously been examined in autistic disorders and offer biologically plausibility to these findings.
Details
- Title: Subtitle
- Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders
- Creators
- Richard J L Anney - Autism Genetics Group, Department of Psychiatry, Trinity College Dublin, Institute of Molecular Medicine, Trinity Centre for Health Sciences, St James' Hospital, Dublin, Ireland. anneyr@tcd.ieElaine M KennyColm O'DushlaineBrian L YaspanElena ParkhomenkaJoseph D BuxbaumJames SutcliffeMichael GillLouise GallagherAutism Genome Project
- Contributors
- Kai Wang (Contributor) - University of Iowa, Biostatistics
- Resource Type
- Journal article
- Publication Details
- European journal of human genetics : EJHG, Vol.19(10), pp.1082-1089
- Publisher
- England
- DOI
- 10.1038/ejhg.2011.75
- PMID
- 21522181
- PMCID
- PMC3190264
- ISSN
- 1018-4813
- eISSN
- 1476-5438
- Grant note
- P50 HD055782 / NICHD NIH HHS Medical Research Council U10 MH066766 / NIMH NIH HHS MH52708 / NIMH NIH HHS G0601030 / Medical Research Council MH080647 / NIMH NIH HHS AS7462 / Autism Speaks 090532 / Wellcome Trust Canadian Institutes of Health Research R01 MH081754 / NIMH NIH HHS MH55284 / NIMH NIH HHS P50 HD055784 / NICHD NIH HHS R01 MH061009 / NIMH NIH HHS NS042165 / NINDS NIH HHS HD055784 / NICHD NIH HHS NS026630 / NINDS NIH HHS R01 NS042165 / NINDS NIH HHS P50 HD055751 / NICHD NIH HHS R01 NS049261 / NINDS NIH HHS MH06359 / NIMH NIH HHS P01 NS026630 / NINDS NIH HHS HD055782 / NICHD NIH HHS MH081754 / NIMH NIH HHS HD055751 / NICHD NIH HHS MH066673 / NIMH NIH HHS 075491/Z/04 / Wellcome Trust R01 MH080647 / NIMH NIH HHS U54 MH066673 / NIMH NIH HHS R01 MH055284 / NIMH NIH HHS NS049261 / NINDS NIH HHS MH061009 / NIMH NIH HHS MH66766 / NIMH NIH HHS
- Language
- English
- Date published
- 10/2011
- Academic Unit
- Biostatistics
- Record Identifier
- 9983997358202771
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