Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p
dc.date.accessioned | 2022-12-20T16:13:48Z | |
dc.date.available | 2022-12-20T16:13:48Z | |
dc.date.created | 2022-12-07T17:05:13Z | |
dc.date.issued | 2022 | |
dc.identifier.citation | Weiner, Daniel J. Ling, Emi Erdin, Serkan Tai, Derek J. C. Yadav, Rachita Grove, Jakob Fu, Jack M. Nadig, Ajay Carey, Caitlin E. Baya, Nikolas Bybjerg-Grauholm, Jonas Mortensen, Preben B. Werge, Thomas Demontis, Ditte Mors, Ole Nordentoft, Merete Als, Thomas D. Baekvad-Hansen, Marie Rosengren, Anders Havdahl, Alexandra Karoline Saasen Hedemand, Anne Palotie, Aarno Chakravarti, Aravinda Arking, Dan Sulovari, Arvis Starnawska, Anna Thiruvahindrapuram, Bhooma de Leeuw, Christiaan Carey, Caitlin Ladd-Acosta, Christine van der Merwe, Celia Devlin, Bernie Cook, Edwin H. Eichler, Evan Corfield, Elizabeth Claire Dieleman, Gwen Schellenberg, Gerard Hakonarson, Hakon Coon, Hilary Dziobek, Isabel Vorstman, Jacob Girault, Jessica Sutcliffe, James S. Duan, Jinjie Nurnberger, John Hallmayer, Joachim Buxbaum, Joseph Piven, Joseph Weiss, Lauren Davis, Lea Janecka, Magdalena Mattheisen, Manuel State, Matthew W. Gill, Michael Daly, Mark Uddin, Mohammed Andreassen, Ole Szatmari, Peter Lee, Phil Hyoun Anney, Richard Ripke, Stephan Satterstrom, Kyle Santangelo, Susan Kuo, Susan van Elst, Ludger Tebartz Rolland, Thomas Bougeron, Thomas Polderman, Tinca Turner, Tychele Underwood, Jack Manikandan, Veera Pillalamarri, Vamsee Warrier, Varun Philipsen, Alexandra Reif, Andreas Hinney, Anke Cormand, Bru Bau, Claiton H. D. Rovaris, Diego Luiz Sonuga-Barke, Edmund Grevet, Eugenio Horacio Salum, Giovanni Larsson, Henrik Bo W. Buitelaar, Jan Haavik, Jan McGough, James Kuntsi, Jonna Elia, Josephine Lesch, Klaus-Peter Klein, Marieke Bellgrove, Mark Tesli, Martin Steen Leung, Patrick W. L. Pan, Pedro M. Dalsgaard, Søren Loo, Sandra Medland, Sarah Faraone, Stephen Reichborn-Kjennerud, Ted Banaschewski, Tobias Hawi, Ziarih Berretta, Sabina Macosko, Evan Z. Sebat, Jonathan O’Connor, Luke J. Hougaard, David M. Børglum, Anders D. Talkowski, Michael E. McCarroll, Steven A. Robinson, Elise B. . Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p. Nature Genetics. 2022, 54(11), 1630-1639 | |
dc.identifier.uri | http://hdl.handle.net/10852/98230 | |
dc.description.abstract | Abstract The canonical paradigm for converting genetic association to mechanism involves iteratively mapping individual associations to the proximal genes through which they act. In contrast, in the present study we demonstrate the feasibility of extracting biological insights from a very large region of the genome and leverage this strategy to study the genetic influences on autism. Using a new statistical approach, we identified the 33-Mb p-arm of chromosome 16 (16p) as harboring the greatest excess of autism’s common polygenic influences. The region also includes the mechanistically cryptic and autism-associated 16p11.2 copy number variant. Analysis of RNA-sequencing data revealed that both the common polygenic influences within 16p and the 16p11.2 deletion were associated with decreased average gene expression across 16p. The transcriptional effects of the rare deletion and diffuse common variation were correlated at the level of individual genes and analysis of Hi-C data revealed patterns of chromatin contact that may explain this transcriptional convergence. These results reflect a new approach for extracting biological insight from genetic association data and suggest convergence of common and rare genetic influences on autism at 16p. | |
dc.language | EN | |
dc.publisher | Nature Portfolio | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p | |
dc.title.alternative | ENEngelskEnglishStatistical and functional convergence of common and rare genetic influences on autism at chromosome 16p | |
dc.type | Journal article | |
dc.creator.author | Weiner, Daniel J. | |
dc.creator.author | Ling, Emi | |
dc.creator.author | Erdin, Serkan | |
dc.creator.author | Tai, Derek J. C. | |
dc.creator.author | Yadav, Rachita | |
dc.creator.author | Grove, Jakob | |
dc.creator.author | Fu, Jack M. | |
dc.creator.author | Nadig, Ajay | |
dc.creator.author | Carey, Caitlin E. | |
dc.creator.author | Baya, Nikolas | |
dc.creator.author | Bybjerg-Grauholm, Jonas | |
dc.creator.author | Mortensen, Preben B. | |
dc.creator.author | Werge, Thomas | |
dc.creator.author | Demontis, Ditte | |
dc.creator.author | Mors, Ole | |
dc.creator.author | Nordentoft, Merete | |
dc.creator.author | Als, Thomas D. | |
dc.creator.author | Baekvad-Hansen, Marie | |
dc.creator.author | Rosengren, Anders | |
dc.creator.author | Havdahl, Alexandra Karoline Saasen | |
dc.creator.author | Hedemand, Anne | |
dc.creator.author | Palotie, Aarno | |
dc.creator.author | Chakravarti, Aravinda | |
dc.creator.author | Arking, Dan | |
dc.creator.author | Sulovari, Arvis | |
dc.creator.author | Starnawska, Anna | |
dc.creator.author | Thiruvahindrapuram, Bhooma | |
dc.creator.author | de Leeuw, Christiaan | |
dc.creator.author | Carey, Caitlin | |
dc.creator.author | Ladd-Acosta, Christine | |
dc.creator.author | van der Merwe, Celia | |
dc.creator.author | Devlin, Bernie | |
dc.creator.author | Cook, Edwin H. | |
dc.creator.author | Eichler, Evan | |
dc.creator.author | Corfield, Elizabeth Claire | |
dc.creator.author | Dieleman, Gwen | |
dc.creator.author | Schellenberg, Gerard | |
dc.creator.author | Hakonarson, Hakon | |
dc.creator.author | Coon, Hilary | |
dc.creator.author | Dziobek, Isabel | |
dc.creator.author | Vorstman, Jacob | |
dc.creator.author | Girault, Jessica | |
dc.creator.author | Sutcliffe, James S. | |
dc.creator.author | Duan, Jinjie | |
dc.creator.author | Nurnberger, John | |
dc.creator.author | Hallmayer, Joachim | |
dc.creator.author | Buxbaum, Joseph | |
dc.creator.author | Piven, Joseph | |
dc.creator.author | Weiss, Lauren | |
dc.creator.author | Davis, Lea | |
dc.creator.author | Janecka, Magdalena | |
dc.creator.author | Mattheisen, Manuel | |
dc.creator.author | State, Matthew W. | |
dc.creator.author | Gill, Michael | |
dc.creator.author | Daly, Mark | |
dc.creator.author | Uddin, Mohammed | |
dc.creator.author | Andreassen, Ole | |
dc.creator.author | Szatmari, Peter | |
dc.creator.author | Lee, Phil Hyoun | |
dc.creator.author | Anney, Richard | |
dc.creator.author | Ripke, Stephan | |
dc.creator.author | Satterstrom, Kyle | |
dc.creator.author | Santangelo, Susan | |
dc.creator.author | Kuo, Susan | |
dc.creator.author | van Elst, Ludger Tebartz | |
dc.creator.author | Rolland, Thomas | |
dc.creator.author | Bougeron, Thomas | |
dc.creator.author | Polderman, Tinca | |
dc.creator.author | Turner, Tychele | |
dc.creator.author | Underwood, Jack | |
dc.creator.author | Manikandan, Veera | |
dc.creator.author | Pillalamarri, Vamsee | |
dc.creator.author | Warrier, Varun | |
dc.creator.author | Philipsen, Alexandra | |
dc.creator.author | Reif, Andreas | |
dc.creator.author | Hinney, Anke | |
dc.creator.author | Cormand, Bru | |
dc.creator.author | Bau, Claiton H. D. | |
dc.creator.author | Rovaris, Diego Luiz | |
dc.creator.author | Sonuga-Barke, Edmund | |
dc.creator.author | Grevet, Eugenio Horacio | |
dc.creator.author | Salum, Giovanni | |
dc.creator.author | Larsson, Henrik Bo W. | |
dc.creator.author | Buitelaar, Jan | |
dc.creator.author | Haavik, Jan | |
dc.creator.author | McGough, James | |
dc.creator.author | Kuntsi, Jonna | |
dc.creator.author | Elia, Josephine | |
dc.creator.author | Lesch, Klaus-Peter | |
dc.creator.author | Klein, Marieke | |
dc.creator.author | Bellgrove, Mark | |
dc.creator.author | Tesli, Martin Steen | |
dc.creator.author | Leung, Patrick W. L. | |
dc.creator.author | Pan, Pedro M. | |
dc.creator.author | Dalsgaard, Søren | |
dc.creator.author | Loo, Sandra | |
dc.creator.author | Medland, Sarah | |
dc.creator.author | Faraone, Stephen | |
dc.creator.author | Reichborn-Kjennerud, Ted | |
dc.creator.author | Banaschewski, Tobias | |
dc.creator.author | Hawi, Ziarih | |
dc.creator.author | Berretta, Sabina | |
dc.creator.author | Macosko, Evan Z. | |
dc.creator.author | Sebat, Jonathan | |
dc.creator.author | O’Connor, Luke J. | |
dc.creator.author | Hougaard, David M. | |
dc.creator.author | Børglum, Anders D. | |
dc.creator.author | Talkowski, Michael E. | |
dc.creator.author | McCarroll, Steven A. | |
dc.creator.author | Robinson, Elise B. | |
cristin.unitcode | 185,17,5,7 | |
cristin.unitname | Helse-, utviklings- og personlighetspsyk | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 2 | |
dc.identifier.cristin | 2090321 | |
dc.identifier.bibliographiccitation | info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Nature Genetics&rft.volume=54&rft.spage=1630&rft.date=2022 | |
dc.identifier.jtitle | Nature Genetics | |
dc.identifier.volume | 54 | |
dc.identifier.issue | 11 | |
dc.identifier.startpage | 1630 | |
dc.identifier.endpage | 1639 | |
dc.identifier.doi | https://doi.org/10.1038/s41588-022-01203-y | |
dc.type.document | Tidsskriftartikkel | |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 1061-4036 | |
dc.type.version | PublishedVersion |
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