دورية أكاديمية
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
| العنوان: | Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders |
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| المؤلفون: | 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, Hougaard, David M, Taylor, Jacob, Skuse, David, Devlin, Bernie, Anney, Richard, Sanders, Stephan J, Bishop, Somer, Mortensen, Preben Bo, Bà ̧rglum, Anders D, Smith, George Davey, Daly, Mark J, Robinson, Elise B., Bækvad-Hansen, Marie, Dumont, Ashley, Hansen, Christine, Hansen, Thomas F., Howrigan, Daniel, Mattheisen, Manuel, Moran, Jennifer, Mors, Ole, Nordentoft, Merete, Nà ̧rgaard-Pedersen, Bent, Poterba, Timothy, Poulsen, Jesper, Stevens, Christine, Anttila, Verneri, Holmans, Peter, Huang, Hailiang, Klei, Lambertus, Lee, Phil H., Medland, Sarah E., Neale, Benjamin, 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, Vorstman, Jacob A. S., Vieland, Veronica J., Vicente, Astrid M., Van Engeland, Herman, Tsang, Kathryn, Thompson, Ann P., Szatmari, Peter, Svantesson, Oscar, Steinberg, Stacy, Stefansson, Kari, Stefansson, Hreinn, State, Matthew W., Soorya, Latha, Silagadze, Teimuraz, Scherer, Stephen W., Schellenberg, Gerard D., Sandin, Sven, Saemundsen, Evald, Rouleau, Guy A., Rogé, Bernadette, Roeder, Kathryn, Roberts, Wendy, Reichert, Jennifer, Reichenberg, Abraham, Rehnström, Karola, Regan, Regina, Poustka, Fritz, Poultney, Christopher S., Piven, Joseph, Pinto, Dalila, Pericak-Vance, Margaret A., Pejovic-Milovancevic, Milica, Pedersen, Marianne G., Pedersen, Carsten B., Paterson, Andrew D., Parr, Jeremy R., Pagnamenta, Alistair T., Oliveira, Guiomar, Nurnberger, John I., Murtha, Michael T., Mouga, Susana, Morrow, Eric M., DeLuca, Daniel Moreno, Monaco, Anthony P., Minshew, Nancy, Merikangas, Alison, McMahon, William M., McGrew, Susan G., Martsenkovsky, Igor, Martin, Donna M., Mane, Shrikant M., Magnusson, Pall, Magalhaes, Tiago, Maestrini, Elena, Lowe, Jennifer K., Lord, Catherine, Levitt, Pat, Martin, Christa Lese, Ledbetter, David H., Leboyer, Marion, LeCouteur, Ann S., Ladd-Acosta, Christine, Kolevzon, Alexander, Klauck, Sabine M., Jacob, Suma, Iliadou, Bozenna, Hultman, Christina M., Hertz-Picciotto, Irva, Hendren, Robert, Hansen, Christine S., Haines, Jonathan L., Guter, Stephen J., Grice, Dorothy E., Green, Jonathan M., Green, Andrew, Goldberg, Arthur P., Gillberg, Christopher, Gilbert, John, Gallagher, Louise, Freitag, Christine M., Fombonne, Eric, Folstein, Susan E., Fernandez, Bridget, Fallin, M. Daniele, Ercan-Sencicek, A. Gulhan, Ennis, Sean, Duque, Frederico, Duketis, Eftichia, Delorme, Richard, DeRubeis, Silvia, DeJonge, Maretha V., Dawson, Geraldine, Cuccaro, Michael L., Correia, Catarina T., Conroy, Judith, Conceição, InÃas C., Chiocchetti, Andreas G., Celestino-Soper, PatrÃcia B. S., Casey, Jillian, Cantor, Rita M., Cafe, Cátia, Brennan, Sean, Bourgeron, Thomas, Bolton, Patrick F., Bölte, Sven, Bolshakova, Nadia, Betancur, Catalina, Bernier, Raphael, Beaudet, Arthur L., Battaglia, Agatino, Bal, Vanessa H., Baird, Gillian, Bailey, Anthony J., Bader, Joel S., Bacchelli, Elena, Anagnostou, Evdokia, Amaral, David, Almeida, Joana, Buxbaum, Joseph D., Chakravarti, Aravinda, Cook, Edwin H., Coon, Hilary, Geschwind, Daniel H., Gill, Michael, Hakonarson, Hakon, Hallmayer, Joachim, Palotie, Aarno, Santangelo, Susan, Sutcliffe, James S., Arking, Dan E. |
| المساهمون: | 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, Jona, Werge, Thoma, Hougaard, David M, Taylor, Jacob, Skuse, David, Devlin, Bernie, Anney, Richard, Sanders, Stephan J, Bishop, Somer, Mortensen, Preben Bo, Bã ̧rglum, Anders D, Smith, George Davey, Daly, Mark J, Robinson, Elise B., Bækvad-Hansen, Marie, Dumont, Ashley, Hansen, Christine, Hansen, Thomas F., Howrigan, Daniel, Mattheisen, Manuel, Moran, Jennifer, Mors, Ole, Nordentoft, Merete, Nà ̧rgaard-Pedersen, Bent, Poterba, Timothy, Poulsen, Jesper, Stevens, Christine, Anttila, Verneri, Holmans, Peter, Huang, Hailiang, Klei, Lambertu, Lee, Phil H., Medland, Sarah E., Neale, Benjamin, 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, Vorstman, Jacob A. S., Vieland, Veronica J., Vicente, Astrid M., Van Engeland, Herman, Tsang, Kathryn, Thompson, Ann P., Szatmari, Peter, Svantesson, Oscar, Steinberg, Stacy, Stefansson, Kari, Stefansson, Hreinn, State, Matthew W., Soorya, Latha, Silagadze, Teimuraz, Scherer, Stephen W., Schellenberg, Gerard D., Sandin, Sven, Saemundsen, Evald, Rouleau, Guy A., Rogã©, Bernadette, Roeder, Kathryn, Roberts, Wendy, Reichert, Jennifer, Reichenberg, Abraham, Rehnstrã¶m, Karola, Regan, Regina, Poustka, Fritz, Poultney, Christopher S., Piven, Joseph, Pinto, Dalila, Pericak-Vance, Margaret A., Pejovic-Milovancevic, Milica, Pedersen, Marianne G., Pedersen, Carsten B., Paterson, Andrew D., Parr, Jeremy R., Pagnamenta, Alistair T., Oliveira, Guiomar, Nurnberger, John I., Murtha, Michael T., Mouga, Susana, Morrow, Eric M., Deluca, Daniel Moreno, Monaco, Anthony P., Minshew, Nancy, Merikangas, Alison, Mcmahon, William M. |
| سنة النشر: | 2017 |
| المجموعة: | IRIS Università degli Studi di Bologna (CRIS - Current Research Information System) |
| مصطلحات موضوعية: | Adult, Autism Spectrum Disorder, Child, Cohort Studie, Educational Statu, Ethnic Group, Family Health, Female, Genetic Association Studie, Genetic Predisposition to Disease, Genetics, Behavioral, Human, Intellectual Disability, Intelligence, Male, Phenotype, Risk Factor, Schizophrenia, Sequence Deletion, Genetic Variation, Multifactorial Inheritance |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | STAMPA |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/28504703; info:eu-repo/semantics/altIdentifier/wos/WOS:000404253300005; volume:49; issue:7; firstpage:978; lastpage:985; numberofpages:8; journal:NATURE GENETICS; info:eu-repo/grantAgreement/EC/H2020/647648; http://hdl.handle.net/11585/615185Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85021757773; http://www.nature.com/ng/index.htmlTest |
| DOI: | 10.1038/ng.3863 |
| الإتاحة: | https://doi.org/10.1038/ng.3863Test http://hdl.handle.net/11585/615185Test http://www.nature.com/ng/index.htmlTest |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.D8918283 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/ng.3863 |
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