Show simple item record

dc.contributor.authorAnney, Richard J L
dc.contributor.authorKenny, Elaine M
dc.contributor.authorO'Dushlaine, Colm
dc.contributor.authorYaspan, Brian L
dc.contributor.authorParkhomenka, Elena
dc.contributor.authorBuxbaum, Joseph D
dc.contributor.authorSutcliffe, James
dc.contributor.authorGill, Michael
dc.contributor.authorGallagher, Louise
dc.contributor.authorBuxbaum, Joseph D
dc.contributor.authorSutcliffe, James
dc.contributor.authorGill, Michael
dc.contributor.authorGallagher, Louise
dc.date.accessioned2012-02-01T10:44:26Z
dc.date.available2012-02-01T10:44:26Z
dc.date.issued2012-02-01T10:44:26Z
dc.identifier.citationEur J Hum Genet. 2011 Oct;19(10):1082-9. doi: 10.1038/ejhg.2011.75. Epub 2011 Apr, 27.en_GB
dc.identifier.issn1476-5438 (Electronic)en_GB
dc.identifier.issn1018-4813 (Linking)en_GB
dc.identifier.pmid21522181en_GB
dc.identifier.doi10.1038/ejhg.2011.75en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207779
dc.description.abstractRecent 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.
dc.language.isoengen_GB
dc.subject.meshAutistic Disorder/diagnosis/*genetics/physiopathologyen_GB
dc.subject.meshChilden_GB
dc.subject.meshChild Development Disorders, Pervasive/diagnosis/*genetics/physiopathologyen_GB
dc.subject.meshFamilyen_GB
dc.subject.mesh*Genetic Predisposition to Diseaseen_GB
dc.subject.mesh*Genome-Wide Association Study/methodsen_GB
dc.subject.meshHumansen_GB
dc.subject.meshPolymorphism, Single Nucleotideen_GB
dc.subject.meshProteins/*genetics/metabolismen_GB
dc.subject.meshResearch Designen_GB
dc.titleGene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.en_GB
dc.contributor.departmentAutism Genetics Group, Department of Psychiatry, Trinity College Dublin,, Institute of Molecular Medicine, Trinity Centre for Health Sciences, St James', Hospital, Dublin, Ireland. anneyr@tcd.ieen_GB
dc.identifier.journalEuropean journal of human genetics : EJHGen_GB
dc.description.provinceLeinster
html.description.abstractRecent 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.


This item appears in the following Collection(s)

Show simple item record