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Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders

2011-04-27Journal article Restricted access
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dc.contributor.authorAnney, R.J.
dc.contributor.authorKenny, E.M.
dc.contributor.authorO'Dushlaine, C.
dc.contributor.authorParkhomenka, E.
dc.contributor.authorBuxbaum, J.D.
dc.contributor.authorSutcliffe, J.
dc.contributor.authorGill, M.
dc.contributor.authorGallagher, L.
dc.contributor.authorBailey, A.J.
dc.contributor.authorFernandez, B.A.
dc.contributor.authorSzatmari, P.
dc.contributor.authorNurnberger Jr, J.I.
dc.contributor.authorMcDougle, C.J.
dc.contributor.authorPosey, D.J.
dc.contributor.authorLord, C.
dc.contributor.authorCorsello, C.
dc.contributor.authorHus, V.
dc.contributor.authorBuxbaum, J.D.
dc.contributor.authorKolevzon, A.
dc.contributor.authorSoorya, L.
dc.contributor.authorParkhomenko, E.
dc.contributor.authorScherer, S.W.
dc.contributor.authorLeventhal, B.L.
dc.contributor.authorDawson, G.
dc.contributor.authorVieland, V.J.
dc.contributor.authorHakonarson, H.
dc.contributor.authorGlessner, J.T.
dc.contributor.authorKim, C.
dc.contributor.authorWang, K.
dc.contributor.authorSchellenberg, G.D.
dc.contributor.authorDevlin, B.
dc.contributor.authorKlei, L.
dc.contributor.authorPatterson, A.
dc.contributor.authorMinshew, N.
dc.contributor.authorSutcliffe, J.S.
dc.contributor.authorHaines, J.L.
dc.contributor.authorLund, S.C.
dc.contributor.authorThomson, S.
dc.contributor.authorYaspan, B.L.
dc.contributor.authorCoon, H.
dc.contributor.authorMiller, J.
dc.contributor.authorMcMahon, W.M.
dc.contributor.authorMunson, J.
dc.contributor.authorMarshall, C.R.
dc.contributor.authorEstes, A.
dc.contributor.authorWijsman, EM.
dc.contributor.authorThe Autism Genome Project
dc.contributor.authorPinto, D.
dc.contributor.authorVincent, J.B.
dc.contributor.authorFombonne, E.
dc.contributor.authorBetancur, C.
dc.contributor.authorDelorme, R.
dc.contributor.authorLeboyer, M.
dc.contributor.authorBourgeron, T.
dc.contributor.authorMantoulan, C.
dc.contributor.authorRoge, B.
dc.contributor.authorTauber, M.
dc.contributor.authorFreitag, C.M.
dc.contributor.authorPoustka, F.
dc.contributor.authorDuketis, E.
dc.contributor.authorKlauck, S.M.
dc.contributor.authorPoustka, A.
dc.contributor.authorPapanikolaou, K.
dc.contributor.authorTsiantis, J.
dc.contributor.authorGallagher, L.
dc.contributor.authorGill, M.
dc.contributor.authorAnney, R.
dc.contributor.authorBolshakova, N.
dc.contributor.authorBrennan, S.
dc.contributor.authorHughes, G.
dc.contributor.authorMcGrath, J.
dc.contributor.authorMerikangas, A.
dc.contributor.authorEnnis, S.
dc.contributor.authorGreen, A.
dc.contributor.authorCasey, J.P.
dc.contributor.authorConroy, J.M.
dc.contributor.authorRegan, R.
dc.contributor.authorShah, N.
dc.contributor.authorMaestrini, E.
dc.contributor.authorBacchelli, E.
dc.contributor.authorMinopoli, F.
dc.contributor.authorStoppioni, V.
dc.contributor.authorBattaglia, A.
dc.contributor.authorIgliozzi, R.
dc.contributor.authorParrini, B.
dc.contributor.authorTancredi, R.
dc.contributor.authorOliveira, G.
dc.contributor.authorAlmeida, J.
dc.contributor.authorDuque, F.
dc.contributor.authorVicente, A.M.
dc.contributor.authorCorreia, C.
dc.contributor.authorMagalhaes, T.R.
dc.contributor.authorGillberg, C.
dc.contributor.authorNygren, G.
dc.contributor.authorJonge, M.D.
dc.contributor.authorVan Engeland, H.
dc.contributor.authorVorstman, J.A.
dc.contributor.authorWittemeyer, K.
dc.contributor.authorBaird, G.
dc.contributor.authorBolton, P.F
dc.contributor.authorRutter, M.L.
dc.contributor.authorGreen, J.
dc.contributor.authorLamb, J.A.
dc.contributor.authorPickles, A.
dc.contributor.authorParr, J.R.
dc.contributor.authorCouteur, A.L.
dc.contributor.authorBerney, T.
dc.contributor.authorMcConachie, H.
dc.contributor.authorWallace, S.
dc.contributor.authorCoutanche, M.
dc.contributor.authorFoley, S.
dc.contributor.authorWhite, K.
dc.contributor.authorMonaco, A.P.
dc.contributor.authorHolt, R.
dc.contributor.authorFarrar, P.
dc.contributor.authorPagnamenta, A.T.
dc.contributor.authorMirza, G.K.
dc.contributor.authorRagoussis, J.
dc.contributor.authorSousa, I.
dc.contributor.authorSykes, N.
dc.contributor.authorWing, K.
dc.contributor.authorHallmayer, J.
dc.contributor.authorCantor, R.M.
dc.contributor.authorNelson, S.F.
dc.contributor.authorGeschwind, D.H.
dc.contributor.authorAbrahams, B.S.
dc.contributor.authorVolkmar, F.
dc.contributor.authorPericak-Vance, M.A.
dc.contributor.authorCuccaro, M.L.
dc.contributor.authorGilbert, J.
dc.contributor.authorCook, E.H.
dc.contributor.authorGuter, S.J.
dc.contributor.authorJacob, S.
dc.date.accessioned2011-09-12T16:21:21Z
dc.date.available2011-09-12T16:21:21Z
dc.date.issued2011-04-27
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.por
dc.identifier.citationEur J Hum Genet. 2011 Apr 27. doi:10.1038/ejhg.2011.75. [Epub ahead of print]por
dc.identifier.otherESSN 1476-5438
dc.identifier.urihttp://hdl.handle.net/10400.18/145
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherNature Publishing Grouppor
dc.relation.publisherversionhttp://www.nature.com/ejhg/journal/vaop/ncurrent/full/ejhg201175a.htmlpor
dc.subjectAutismpor
dc.subjectGenome-wide association analysispor
dc.subjectPathway analysispor
dc.subjectFamily-based association testpor
dc.subjectGene ontologypor
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpor
dc.titleGene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorderspor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage8por
oaire.citation.startPage1por
oaire.citation.titleEuropean Journal of Human Geneticspor
rcaap.rightsrestrictedAccesspor
rcaap.typearticlepor

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