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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

2011-10-14Journal article Restricted access
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dc.contributor.authorCasey, J.P.
dc.contributor.authorMagalhaes, T.
dc.contributor.authorConroy, J.M.
dc.contributor.authorRegan, R.
dc.contributor.authorShah, N.
dc.contributor.authorAnney, R.
dc.contributor.authorShields, D.C.
dc.contributor.authorAbrahams, B.S.
dc.contributor.authorAlmeida, J.
dc.contributor.authorBacchelli, E.
dc.contributor.authorBailey, A.J.
dc.contributor.authorPiven, J.
dc.contributor.authorPosey, D.J.
dc.contributor.authorPoustka, A.
dc.contributor.authorPoustka, F.
dc.contributor.authorRagoussis, J.
dc.contributor.authorRoge, B.
dc.contributor.authorRutter, M.L.
dc.contributor.authorSequeira, A.F.
dc.contributor.authorSoorya, L.
dc.contributor.authorSousa, I.
dc.contributor.authorWittemeyer, K.
dc.contributor.authorSykes, N.
dc.contributor.authorStoppioni, V.
dc.contributor.authorTancredi, R.
dc.contributor.authorTauber, M.
dc.contributor.authorThompson, A.P.
dc.contributor.authorThomson, S.
dc.contributor.authorTsiantis, J.
dc.contributor.authorVan Engeland, H.
dc.contributor.authorVincent, J.B.
dc.contributor.authorVolkmar, F.
dc.contributor.authorYaspan, B.L.
dc.contributor.authorVorstman, J.A.
dc.contributor.authorWallace, S.
dc.contributor.authorWang, K.
dc.contributor.authorWassink, T.H.
dc.contributor.authorWhite, K.
dc.contributor.authorWing, K.
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.authorGeschwind, D.H.
dc.contributor.authorBaird, G.
dc.contributor.authorHaines, J.L.
dc.contributor.authorHallmayer, J.
dc.contributor.authorMonaco, A.P.
dc.contributor.authorNurnberger, J.I. Jr
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.authorVieland, V.J.
dc.contributor.authorBattaglia, A.
dc.contributor.authorWijsman, E.M.
dc.contributor.authorGreen, A.
dc.contributor.authorGill, M.
dc.contributor.authorGallagher, L.
dc.contributor.authorVicente, A.M.
dc.contributor.authorEnnis, S.
dc.contributor.authorBerney, T.
dc.contributor.authorBolshakova, N.
dc.contributor.authorBolton, P.F.
dc.contributor.authorBourgeron, T.
dc.contributor.authorBrennan, S.
dc.contributor.authorCali, P.
dc.contributor.authorCorreia, C.
dc.contributor.authorCorsello, C.
dc.contributor.authorCoutanche, M.
dc.contributor.authorDawson, G.
dc.contributor.authorde Jonge, M.
dc.contributor.authorDelorme, R.
dc.contributor.authorDuketis, E.
dc.contributor.authorDuque, F.
dc.contributor.authorEstes, A.
dc.contributor.authorFarrar, P.
dc.contributor.authorFernandez, B.A.
dc.contributor.authorFolstein, S.E.
dc.contributor.authorFoley, S.
dc.contributor.authorFombonne, E.
dc.contributor.authorFreitag, C.M.
dc.contributor.authorGilbert, J.
dc.contributor.authorGillberg, C.
dc.contributor.authorGlessner, J.T.
dc.contributor.authorGreen, J.
dc.contributor.authorGuter, S.J.
dc.contributor.authorHakonarson, H.
dc.contributor.authorHolt, R.
dc.contributor.authorHughes, G.
dc.contributor.authorHus, V.
dc.contributor.authorIgliozzi, R.
dc.contributor.authorKim, C.
dc.contributor.authorKlauck, S.M.
dc.contributor.authorKolevzon, A.
dc.contributor.authorLamb, J.A.
dc.contributor.authorLeboyer, M.
dc.contributor.authorLe Couteur, A.
dc.contributor.authorLeventhal, B.L.
dc.contributor.authorLord, C.
dc.contributor.authorLund, S.C.
dc.contributor.authorMaestrini, E.
dc.contributor.authorMantoulan, C.
dc.contributor.authorMarshall, C.R.
dc.contributor.authorMcConachie, H.
dc.contributor.authorMcDougle, C.J.
dc.contributor.authorMcGrath, J.
dc.contributor.authorMcMahon, W.M.
dc.contributor.authorMerikangas, A.
dc.contributor.authorMiller, J.
dc.contributor.authorMinopoli, F.
dc.contributor.authorMirza, G.K.
dc.contributor.authorMunson, J.
dc.contributor.authorNelson, S.F.
dc.contributor.authorNygren, G.
dc.contributor.authorOliveira, G.
dc.contributor.authorPagnamenta, A.T.
dc.contributor.authorPapanikolaou, K.
dc.contributor.authorParr, J.R.
dc.contributor.authorParrini, B.
dc.contributor.authorPickles, A.
dc.contributor.authorPinto, D.
dc.date.accessioned2011-11-07T14:26:38Z
dc.date.available2011-11-07T14:26:38Z
dc.date.issued2011-10-14
dc.description.abstractAutism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.por
dc.identifier.citationHum Genet. 2012 Apr;131(4):565-79. doi: 10.1007/s00439-011-1094-6. Epub 2011 Oct 14por
dc.identifier.otherESSN: 1432-1203
dc.identifier.otherdoi:10.1007/s00439-011-1094-6
dc.identifier.urihttp://hdl.handle.net/10400.18/312
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherSpringerpor
dc.relation.publisherversionhttp://www.springerlink.com/content/u48w844341025540/por
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpor
dc.titleA novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorderpor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleHuman Geneticspor
rcaap.rightsrestrictedAccesspor
rcaap.typearticlepor

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