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Title: Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders
Author: Anney, R.J.
Kenny, E.M.
O'Dushlaine, C.
Parkhomenka, E.
Buxbaum, J.D.
Sutcliffe, J.
Gill, M.
Gallagher, L.
Bailey, A.J.
Fernandez, B.A.
Szatmari, P.
Nurnberger Jr, J.I.
McDougle, C.J.
Posey, D.J.
Lord, C.
Corsello, C.
Hus, V.
Buxbaum, J.D.
Kolevzon, A.
Soorya, L.
Parkhomenko, E.
Scherer, S.W.
Leventhal, B.L.
Dawson, G.
Vieland, V.J.
Hakonarson, H.
Glessner, J.T.
Kim, C.
Wang, K.
Schellenberg, G.D.
Devlin, B.
Klei, L.
Patterson, A.
Minshew, N.
Sutcliffe, J.S.
Haines, J.L.
Lund, S.C.
Thomson, S.
Yaspan, B.L.
Coon, H.
Miller, J.
McMahon, W.M.
Munson, J.
Marshall, C.R.
Estes, A.
Wijsman, EM.
The Autism Genome Project
Pinto, D.
Vincent, J.B.
Fombonne, E.
Betancur, C.
Delorme, R.
Leboyer, M.
Bourgeron, T.
Mantoulan, C.
Roge, B.
Tauber, M.
Freitag, C.M.
Poustka, F.
Duketis, E.
Klauck, S.M.
Poustka, A.
Papanikolaou, K.
Tsiantis, J.
Gallagher, L.
Gill, M.
Anney, R.
Bolshakova, N.
Brennan, S.
Hughes, G.
McGrath, J.
Merikangas, A.
Ennis, S.
Green, A.
Casey, J.P.
Conroy, J.M.
Regan, R.
Shah, N.
Maestrini, E.
Bacchelli, E.
Minopoli, F.
Stoppioni, V.
Battaglia, A.
Igliozzi, R.
Parrini, B.
Tancredi, R.
Oliveira, G.
Almeida, J.
Duque, F.
Vicente, A.M.
Correia, C.
Magalhaes, T.R.
Gillberg, C.
Nygren, G.
Jonge, M.D.
Van Engeland, H.
Vorstman, J.A.
Wittemeyer, K.
Baird, G.
Bolton, P.F
Rutter, M.L.
Green, J.
Lamb, J.A.
Pickles, A.
Parr, J.R.
Couteur, A.L.
Berney, T.
McConachie, H.
Wallace, S.
Coutanche, M.
Foley, S.
White, K.
Monaco, A.P.
Holt, R.
Farrar, P.
Pagnamenta, A.T.
Mirza, G.K.
Ragoussis, J.
Sousa, I.
Sykes, N.
Wing, K.
Hallmayer, J.
Cantor, R.M.
Nelson, S.F.
Geschwind, D.H.
Abrahams, B.S.
Volkmar, F.
Pericak-Vance, M.A.
Cuccaro, M.L.
Gilbert, J.
Cook, E.H.
Guter, S.J.
Jacob, S.
Keywords: Autism
Genome-wide association analysis
Pathway analysis
Family-based association test
Gene ontology
Perturbações do Desenvolvimento Infantil e Saúde Mental
Issue Date: 27-Apr-2011
Publisher: Nature Publishing Group
Citation: Eur J Hum Genet. 2011 Apr 27. doi:10.1038/ejhg.2011.75. [Epub ahead of print]
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.
Peer review: yes
Publisher Version:
Appears in Collections:DPSPDNT - Artigos em revistas internacionais

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