Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/5624
Título: Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
Autor: Weiner, Daniel J.
Wigdor, Emilie M.
Ripke, Stephan
Walters, Raymond K.
Kosmicki, Jack A.
Grove, Jakob
Samocha, Kaitlin E.
Goldstein, Jacqueline I.
Okbay, Aysu
Bybjerg-Grauholm, Jonas
Werge, Thomas
Minshew, Nancy
Merikangas, Alison
McMahon, William M.
McGrew, Susan G.
Ladd-Acosta, Christine
Mattheisen, Manuel
Hougaard, David M.
Jacob, Suma
Bishop, Somer
Iliadou, Bozenna
Arking, Dan E.
Hultman, Christina M.
Hertz-Picciotto, Irva
Hendren, Robert
Hansen, Christine S.
Haines, Jonathan L.
Guter, Stephen J.
Grice, Dorothy E.
Green, Jonathan M.
Taylor, Jacob
Mortensen, Preben Bo
Skuse, David
Green, Andrew
Goldberg, Arthur P.
Gillberg, Christopher
Gilbert, John
Gallagher, Louise
Freitag, Christine M.
Fombonne, Eric
Folstein, Susan E.
Fernandez, Bridget
Fallin, M Daniele
Devlin, Bernie
Børglum, Anders D.
Bækvad-Hansen, Marie
Ercan-Sencicek, A Gulhan
Ennis, Sean
Duque, Frederico
Duketis, Eftichia
Delorme, Richard
De Rubeis, Silvia
De Jonge, Maretha V.
Dawson, Geraldine
Anney, Richard
Cuccaro, Michael L.
Smith, George Davey
Correia, Catarina T.
Dumont, Ashley
Conroy, Judith
Conceição, Inês C.
Chiocchetti, Andreas G.
Celestino-Soper, Patrícia B.S.
Casey, Jillian
Cantor, Rita M.
Mattheisen, Manuel
Café, Cátia
Brennan, Sean
Daly, Mark J.
Bourgeron, Thomas
Bolton, Patrick F.
Hansen, Christine
Bölte, Sven
Bolshakova, Nadia
Betancur, Catalina
Bernier, Raphael
Sanders, Stephan J.
Beaudet, Arthur L.
Battaglia, Agatino
Bal, Vanessa H.
Robinson, Elise B.
Baird, Gillian
Bailey, Anthony J.
Bækvad-Hansen, Marie
Hansen, Thomas F.
Bader, Joel S.
Bacchelli, Elena
Nordentoft, Merete
Anagnostou, Evdokia
Amaral, David
Almeida, Joana
Buxbaum, Joseph D.
Moran, Jennifer
Chakravarti, Aravinda
Cook, Edwin H.
Coon, Hilary
Geschwind, Daniel H.
Howrigan, Daniel
Nørgaard-Pedersen, Bent
Gill, Michael
Hakonarson, Hakon
Hallmayer, Joachim
Palotie, Aarno
Santangelo, Susan
Mors, Ole
Sutcliffe, James S.
Lowe, Jennifer K.
Poterba, Timothy
Martsenkovsky, Igor
Poulsen, Jesper
Stevens, Christine
Anttila, Verneri
Holmans, Peter
Huang, Hailiang
Klei, Lambertus
Lee, Phil H
Medland, Sarah E.
Neale, Benjamin
Lord, Catherine
Martin, Donna M.
Weiss, Lauren A.
Zwaigenbaum, Lonnie
Yu, Timothy W.
Wittemeyer, Kerstin
Willsey, A Jeremy
Wijsman, Ellen M
Wassink, Thomas H.
Waltes, Regina
Walsh, Christopher A.
Wallace, Simon
Mane, Shrikant M.
Levitt, Pat
Vorstman, Jacob A.S.
Vieland, Veronica J.
Vicente, Astrid M.
van Engeland, Herman
Tsang, Kathryn
Thompson, Ann P.
Szatmari, Peter
Svantesson, Oscar
Steinberg, Stacy
Magnusson, Pall
Stefansson, Kari
Martin, Christa Lese
Stefansson, Hreinn
State, Matthew W.
Soorya, Latha
Silagadze, Teimuraz
Scherer, Stephen W.
Schellenberg, Gerard D.
Sandin, Sven
Saemundsen, Evald
Magalhaes, Tiago
Rouleau, Guy A.
Rogé, Bernadette
Ledbetter, David H.
Roeder, Kathryn
Roberts, Wendy
Reichert, Jennifer
Reichenberg, Abraham
Rehnström, Karola
Regan, Regina
Poustka, Fritz
Maestrini, Elena
Poultney, Christopher S.
Piven, Joseph
Pinto, Dalila
Leboyer, Marion
Pericak-Vance, Margaret A.
Pejovic-Milovancevic, Milica
Pedersen, Marianne G.
Pedersen, Carsten B.
Paterson, Andrew D.
Parr, Jeremy R.
Kolevzon, Alexander
Pagnamenta, Alistair T.
Oliveira, Guiomar
Nurnberger, John I.
Nordentoft, Merete
Le Couteur, Ann S.
Murtha, Michael T.
Mouga, Susana
Mors, Ole
Morrow, Eric M.
De Luca, Daniel Moreno
Klauck, Sabine M.
Monaco, Anthony P.
Palavras-chave: Autism Spectrum Disorder
Genetic Predisposition to Disease
Autism
Perturbações do Desenvolvimento Infantil e Saúde Mental
Data: Jul-2017
Editora: Nature Publishing Group
Citação: Nat Genet. 2017 Jul;49(7):978-985. doi: 10.1038/ng.3863. Epub 2017 May 15.
Resumo: Autism 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.
Descrição: Psychiatric Genomics Consortium Autism Group, Astrid M. Vicente
Free PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5552240/
Peer review: yes
URI: http://hdl.handle.net/10400.18/5624
DOI: 10.1038/ng.3863
ISSN: 1061-4036
Versão do Editor: https://www.nature.com/articles/ng.3863
Aparece nas colecções:DPSPDNT - Artigos em revistas internacionais

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