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A genome-wide scan for common alleles affecting risk for autism

2010-10-15Artigo científico Acesso aberto
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dc.contributor.authorAnney, R.
dc.contributor.authorKlei, L.
dc.contributor.authorPinto, D.
dc.contributor.authorRegan, R.
dc.contributor.authorConroy, J.
dc.contributor.authorMagalhaes, T.R.
dc.contributor.authorCorreia, C.
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dc.contributor.authorSykes, N.
dc.contributor.authorPagnamenta, A.T.
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dc.contributor.authorBacchelli, E.
dc.contributor.authorBailey, A.J.
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dc.contributor.authorBrennan, S.
dc.contributor.authorBrian, J.
dc.contributor.authorCarson, A.R.
dc.contributor.authorCasallo, G.
dc.contributor.authorCasey, J.
dc.contributor.authorChu, S.H.
dc.contributor.authorCochrane, L.
dc.contributor.authorCorsello, C.
dc.contributor.authorCrawford, E.L.
dc.contributor.authorCrossett, A.
dc.contributor.authorDawson, G.
dc.contributor.authorde Jonge, M.
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dc.contributor.authorHakonarson, H.
dc.contributor.authorHeron, E.A.
dc.contributor.authorHill, M.
dc.contributor.authorHolt, R.
dc.contributor.authorHowe, J.L.
dc.contributor.authorHughes, G.
dc.contributor.authorHus, V.
dc.contributor.authorIgliozzi, R.
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dc.contributor.authorKlauck, S.M.
dc.contributor.authorKolevzon, A.
dc.contributor.authorKorvatska, O.
dc.contributor.authorKustanovich, V.
dc.contributor.authorLajonchere, C.M.
dc.contributor.authorLamb, J.A.
dc.contributor.authorLaskawiec, M.
dc.contributor.authorLeboyer, M.
dc.contributor.authorLe Couteur, A.
dc.contributor.authorLeventhal, B.L.
dc.contributor.authorLionel, A.C.
dc.contributor.authorLiu, X.Q.
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dc.contributor.authorTancredi, R.
dc.contributor.authorTansey, K.
dc.contributor.authorThiruvahindrapduram, B.
dc.contributor.authorThompson, A.P.
dc.contributor.authorThomson, S.
dc.contributor.authorTryfon, A.
dc.contributor.authorTsiantis, J.
dc.contributor.authorVan Engeland, H.
dc.contributor.authorVincent, J.B.
dc.contributor.authorVolkmar, F.
dc.contributor.authorWallace, S.
dc.contributor.authorWang, K.
dc.contributor.authorWang, Z.
dc.contributor.authorWassink, T.H.
dc.contributor.authorWing, K.
dc.contributor.authorWittemeyer, K.
dc.contributor.authorWood, S.
dc.contributor.authorYaspan, B.L.
dc.contributor.authorZurawiecki, D.
dc.contributor.authorZwaigenbaum, L.
dc.contributor.authorBetancur, C.
dc.contributor.authorBuxbaum, J.D.
dc.contributor.authorCantor, R.M.
dc.contributor.authorCook, E.H.
dc.contributor.authorCoon, H.
dc.contributor.authorCuccaro, M.L.
dc.contributor.authorGallagher, L.
dc.contributor.authorGeschwind, D.H.
dc.contributor.authorGill, M.
dc.contributor.authorHaines, J.L.
dc.contributor.authorMiller, J.
dc.contributor.authorMonaco, A.P.
dc.contributor.authorNurnberger Jr, J.I.
dc.contributor.authorPaterson, A.D.
dc.contributor.authorPericak-Vance, M.A.
dc.contributor.authorSchellenberg, G.D.
dc.contributor.authorScherer, S.W.
dc.contributor.authorSutcliffe, J.S.
dc.contributor.authorSzatmari, P.
dc.contributor.authorVicente, A.M.
dc.contributor.authorVieland, V.J.
dc.contributor.authorWijsman, E.M.
dc.contributor.authorDevlin, B.
dc.contributor.authorEnnis, S.
dc.contributor.authorHallmayer, J.
dc.date.accessioned2011-09-09T15:12:01Z
dc.date.available2011-09-09T15:12:01Z
dc.date.issued2010-10-15
dc.description.abstractAlthough autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.por
dc.identifier.citationHum Mol Genet. 2010 Oct 15;19(20):4072-82. Epub 2010 Jul 27por
dc.identifier.issn1460-2083
dc.identifier.otherdoi:10.1093/hmg/ddq307
dc.identifier.urihttp://hdl.handle.net/10400.18/141
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherOxford University Presspor
dc.relation.publisherversionhttp://hmg.oxfordjournals.org/content/19/20/4072.full.pdf+htmlpor
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpor
dc.titleA genome-wide scan for common alleles affecting risk for autismpor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage4082por
oaire.citation.startPage4072por
oaire.citation.titleHuman Molecular Geneticspor
rcaap.rightsopenAccesspor
rcaap.typearticlepor

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