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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

2017-07Journal article Restricted access
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dc.contributor.authorWeiner, Daniel J.
dc.contributor.authorWigdor, Emilie M.
dc.contributor.authorRipke, Stephan
dc.contributor.authorWalters, Raymond K.
dc.contributor.authorKosmicki, Jack A.
dc.contributor.authorGrove, Jakob
dc.contributor.authorSamocha, Kaitlin E.
dc.contributor.authorGoldstein, Jacqueline I.
dc.contributor.authorOkbay, Aysu
dc.contributor.authorBybjerg-Grauholm, Jonas
dc.contributor.authorWerge, Thomas
dc.contributor.authorMinshew, Nancy
dc.contributor.authorMerikangas, Alison
dc.contributor.authorMcMahon, William M.
dc.contributor.authorMcGrew, Susan G.
dc.contributor.authorLadd-Acosta, Christine
dc.contributor.authorMattheisen, Manuel
dc.contributor.authorHougaard, David M.
dc.contributor.authorJacob, Suma
dc.contributor.authorBishop, Somer
dc.contributor.authorIliadou, Bozenna
dc.contributor.authorArking, Dan E.
dc.contributor.authorHultman, Christina M.
dc.contributor.authorHertz-Picciotto, Irva
dc.contributor.authorHendren, Robert
dc.contributor.authorHansen, Christine S.
dc.contributor.authorHaines, Jonathan L.
dc.contributor.authorGuter, Stephen J.
dc.contributor.authorGrice, Dorothy E.
dc.contributor.authorGreen, Jonathan M.
dc.contributor.authorTaylor, Jacob
dc.contributor.authorMortensen, Preben Bo
dc.contributor.authorSkuse, David
dc.contributor.authorGreen, Andrew
dc.contributor.authorGoldberg, Arthur P.
dc.contributor.authorGillberg, Christopher
dc.contributor.authorGilbert, John
dc.contributor.authorGallagher, Louise
dc.contributor.authorFreitag, Christine M.
dc.contributor.authorFombonne, Eric
dc.contributor.authorFolstein, Susan E.
dc.contributor.authorFernandez, Bridget
dc.contributor.authorFallin, M Daniele
dc.contributor.authorDevlin, Bernie
dc.contributor.authorBørglum, Anders D.
dc.contributor.authorBækvad-Hansen, Marie
dc.contributor.authorErcan-Sencicek, A Gulhan
dc.contributor.authorEnnis, Sean
dc.contributor.authorDuque, Frederico
dc.contributor.authorDuketis, Eftichia
dc.contributor.authorDelorme, Richard
dc.contributor.authorDe Rubeis, Silvia
dc.contributor.authorDe Jonge, Maretha V.
dc.contributor.authorDawson, Geraldine
dc.contributor.authorAnney, Richard
dc.contributor.authorCuccaro, Michael L.
dc.contributor.authorSmith, George Davey
dc.contributor.authorCorreia, Catarina T.
dc.contributor.authorDumont, Ashley
dc.contributor.authorConroy, Judith
dc.contributor.authorConceição, Inês C.
dc.contributor.authorChiocchetti, Andreas G.
dc.contributor.authorCelestino-Soper, Patrícia B.S.
dc.contributor.authorCasey, Jillian
dc.contributor.authorCantor, Rita M.
dc.contributor.authorMattheisen, Manuel
dc.contributor.authorCafé, Cátia
dc.contributor.authorBrennan, Sean
dc.contributor.authorDaly, Mark J.
dc.contributor.authorBourgeron, Thomas
dc.contributor.authorBolton, Patrick F.
dc.contributor.authorHansen, Christine
dc.contributor.authorBölte, Sven
dc.contributor.authorBolshakova, Nadia
dc.contributor.authorBetancur, Catalina
dc.contributor.authorBernier, Raphael
dc.contributor.authorSanders, Stephan J.
dc.contributor.authorBeaudet, Arthur L.
dc.contributor.authorBattaglia, Agatino
dc.contributor.authorBal, Vanessa H.
dc.contributor.authorRobinson, Elise B.
dc.contributor.authorBaird, Gillian
dc.contributor.authorBailey, Anthony J.
dc.contributor.authorBækvad-Hansen, Marie
dc.contributor.authorHansen, Thomas F.
dc.contributor.authorBader, Joel S.
dc.contributor.authorBacchelli, Elena
dc.contributor.authorNordentoft, Merete
dc.contributor.authorAnagnostou, Evdokia
dc.contributor.authorAmaral, David
dc.contributor.authorAlmeida, Joana
dc.contributor.authorBuxbaum, Joseph D.
dc.contributor.authorMoran, Jennifer
dc.contributor.authorChakravarti, Aravinda
dc.contributor.authorCook, Edwin H.
dc.contributor.authorCoon, Hilary
dc.contributor.authorGeschwind, Daniel H.
dc.contributor.authorHowrigan, Daniel
dc.contributor.authorNørgaard-Pedersen, Bent
dc.contributor.authorGill, Michael
dc.contributor.authorHakonarson, Hakon
dc.contributor.authorHallmayer, Joachim
dc.contributor.authorPalotie, Aarno
dc.contributor.authorSantangelo, Susan
dc.contributor.authorMors, Ole
dc.contributor.authorSutcliffe, James S.
dc.contributor.authorLowe, Jennifer K.
dc.contributor.authorPoterba, Timothy
dc.contributor.authorMartsenkovsky, Igor
dc.contributor.authorPoulsen, Jesper
dc.contributor.authorStevens, Christine
dc.contributor.authorAnttila, Verneri
dc.contributor.authorHolmans, Peter
dc.contributor.authorHuang, Hailiang
dc.contributor.authorKlei, Lambertus
dc.contributor.authorLee, Phil H
dc.contributor.authorMedland, Sarah E.
dc.contributor.authorNeale, Benjamin
dc.contributor.authorLord, Catherine
dc.contributor.authorMartin, Donna M.
dc.contributor.authorWeiss, Lauren A.
dc.contributor.authorZwaigenbaum, Lonnie
dc.contributor.authorYu, Timothy W.
dc.contributor.authorWittemeyer, Kerstin
dc.contributor.authorWillsey, A Jeremy
dc.contributor.authorWijsman, Ellen M
dc.contributor.authorWassink, Thomas H.
dc.contributor.authorWaltes, Regina
dc.contributor.authorWalsh, Christopher A.
dc.contributor.authorWallace, Simon
dc.contributor.authorMane, Shrikant M.
dc.contributor.authorLevitt, Pat
dc.contributor.authorVorstman, Jacob A.S.
dc.contributor.authorVieland, Veronica J.
dc.contributor.authorVicente, Astrid M.
dc.contributor.authorvan Engeland, Herman
dc.contributor.authorTsang, Kathryn
dc.contributor.authorThompson, Ann P.
dc.contributor.authorSzatmari, Peter
dc.contributor.authorSvantesson, Oscar
dc.contributor.authorSteinberg, Stacy
dc.contributor.authorMagnusson, Pall
dc.contributor.authorStefansson, Kari
dc.contributor.authorMartin, Christa Lese
dc.contributor.authorStefansson, Hreinn
dc.contributor.authorState, Matthew W.
dc.contributor.authorSoorya, Latha
dc.contributor.authorSilagadze, Teimuraz
dc.contributor.authorScherer, Stephen W.
dc.contributor.authorSchellenberg, Gerard D.
dc.contributor.authorSandin, Sven
dc.contributor.authorSaemundsen, Evald
dc.contributor.authorMagalhaes, Tiago
dc.contributor.authorRouleau, Guy A.
dc.contributor.authorRogé, Bernadette
dc.contributor.authorLedbetter, David H.
dc.contributor.authorRoeder, Kathryn
dc.contributor.authorRoberts, Wendy
dc.contributor.authorReichert, Jennifer
dc.contributor.authorReichenberg, Abraham
dc.contributor.authorRehnström, Karola
dc.contributor.authorRegan, Regina
dc.contributor.authorPoustka, Fritz
dc.contributor.authorMaestrini, Elena
dc.contributor.authorPoultney, Christopher S.
dc.contributor.authorPiven, Joseph
dc.contributor.authorPinto, Dalila
dc.contributor.authorLeboyer, Marion
dc.contributor.authorPericak-Vance, Margaret A.
dc.contributor.authorPejovic-Milovancevic, Milica
dc.contributor.authorPedersen, Marianne G.
dc.contributor.authorPedersen, Carsten B.
dc.contributor.authorPaterson, Andrew D.
dc.contributor.authorParr, Jeremy R.
dc.contributor.authorKolevzon, Alexander
dc.contributor.authorPagnamenta, Alistair T.
dc.contributor.authorOliveira, Guiomar
dc.contributor.authorNurnberger, John I.
dc.contributor.authorNordentoft, Merete
dc.contributor.authorLe Couteur, Ann S.
dc.contributor.authorMurtha, Michael T.
dc.contributor.authorMouga, Susana
dc.contributor.authorMors, Ole
dc.contributor.authorMorrow, Eric M.
dc.contributor.authorDe Luca, Daniel Moreno
dc.contributor.authorKlauck, Sabine M.
dc.contributor.authorMonaco, Anthony P.
dc.date.accessioned2018-11-07T16:37:24Z
dc.date.available2018-11-07T16:37:24Z
dc.date.issued2017-07
dc.descriptionPsychiatric Genomics Consortium Autism Group, Astrid M. Vicentept_PT
dc.descriptionFree PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5552240/
dc.description.abstractAutism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways.pt_PT
dc.description.sponsorshipE. Robinson and D. Weiner were funded by National Institute of Mental Health grant 1K01MH099286-01A1 and Brain Behavior Research Foundation (NARSAD) Young Investigator grant 22379. E. Wigdor was funded by the Stanley Center for Psychiatric Research at the Broad Institute. A. Okbay was funded by ERC Consolidator Grant (647648 EdGe). We thank the families who took part in the Simons Simplex Collection study and the clinicians who collected data at each of the study sites. The iPSYCH project is funded by the Lundbeck Foundation and the universities and university hospitals of Aarhus and Copenhagen. Genotyping of iPSYCH and PGC samples was supported by grants from the Stanley Foundation, the Simons Foundation (SFARI 311789 to M. Daly) and the National Institute of Mental Health (5U01MH094432-02 to M. Daly). This work was also supported by a grant from the Simons Foundation (SFARI 402281 to S. Sanders).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationNat Genet. 2017 Jul;49(7):978-985. doi: 10.1038/ng.3863. Epub 2017 May 15.pt_PT
dc.identifier.doi10.1038/ng.3863pt_PT
dc.identifier.issn1061-4036
dc.identifier.urihttp://hdl.handle.net/10400.18/5624
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherNature Publishing Grouppt_PT
dc.relation.publisherversionhttps://www.nature.com/articles/ng.3863pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectAutism Spectrum Disorderpt_PT
dc.subjectGenetic Predisposition to Diseasept_PT
dc.subjectAutismpt_PT
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpt_PT
dc.titlePolygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorderspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage985pt_PT
oaire.citation.issue7pt_PT
oaire.citation.startPage978pt_PT
oaire.citation.titleNature Geneticspt_PT
oaire.citation.volume49pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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