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