Genetic correlates of phenotypic heterogeneity in autism
dc.date.accessioned | 2023-03-13T17:31:48Z | |
dc.date.available | 2023-03-13T17:31:48Z | |
dc.date.created | 2022-10-04T11:25:04Z | |
dc.date.issued | 2022 | |
dc.identifier.citation | Warrier, Varun Zhang, Xinhe Reed, Patrick Havdahl, Alexandra Moore, Tyler M. Cliquet, Freddy Leblond, Claire S. Rolland, Thomas Rosengren, Anders Caceres, Antonia San Jose Hayward, Hannah Crawley, Daisy Faulkner, Jessica Sabet, Jessica Ellis, Claire Oakley, Bethany Loth, Eva Charman, Tony Murphy, Declan Holt, Rosemary Waldman, Jack Upadhyay, Jessica Gunby, Nicola Lai, Meng-Chuan Renouf, Gwilym Ruigrok, Amber Taylor, Emily Ziauddeen, Hisham Deakin, Julia di Bruttopilo, Sara Ambrosino van Dijk, Sarai Rijks, Yvonne Koops, Tabitha Douma, Miriam Spaan, Alyssia Selten, Iris Steffers, Maarten van Themaat, Anna Ver Loren Bast, Nico Baumeister, Sarah O’Dwyer, Larry Bours, Carsten Rausch, Annika von Rhein, Daniel Cornelissen, Ineke de Bruin, Yvette Graauwmans, Maartje Kostrzewa, Elzbieta Cauvet, Elodie Tammimies, Kristiina Sitnikow, Rouslan Dumas, Guillaume Kim, Yang-Min Bourgeron, Thomas Hougaard, David M. Bybjerg-Grauholm, Jonas Werge, Thomas Mortensen, Preben Bo Mors, Ole Nordentoft, Merete Adhya, Dwaipayan Alamanza, Armandina Allison, Carrie Garvey, Isabelle Parsons, Tracey Smith, Paula Tsompanidis, Alex Burton, Graham J. Heazell, Alexander E. P. Gabis, Lidia V. Biron-Shental, Tal Lancaster, Madeline A. Srivastava, Deepak P. Mill, Jonathan Rowitch, David H. Hurles, Matthew E. Geschwind, Daniel H. Børglum, Anders D. Robinson, Elise B. Grove, Jakob Martin, Hilary C. Bourgeron, Thomas Baron-Cohen, Simon . Genetic correlates of phenotypic heterogeneity in autism. Nature Genetics. 2022, 54(9), 1293-1304 | |
dc.identifier.uri | http://hdl.handle.net/10852/101389 | |
dc.description.abstract | Abstract The substantial phenotypic heterogeneity in autism limits our understanding of its genetic etiology. To address this gap, here we investigated genetic differences between autistic individuals ( n max = 12,893) based on core and associated features of autism, co-occurring developmental disabilities and sex. We conducted a comprehensive factor analysis of core autism features in autistic individuals and identified six factors. Common genetic variants were associated with the core factors, but de novo variants were not. We found that higher autism polygenic scores (PGS) were associated with lower likelihood of co-occurring developmental disabilities in autistic individuals. Furthermore, in autistic individuals without co-occurring intellectual disability (ID), autism PGS are overinherited by autistic females compared to males. Finally, we observed higher SNP heritability for autistic males and for autistic individuals without ID. Deeper phenotypic characterization will be critical in determining how the complex underlying genetics shape cognition, behavior and co-occurring conditions in autism. | |
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 | Genetic correlates of phenotypic heterogeneity in autism | |
dc.title.alternative | ENEngelskEnglishGenetic correlates of phenotypic heterogeneity in autism | |
dc.type | Journal article | |
dc.creator.author | Warrier, Varun | |
dc.creator.author | Zhang, Xinhe | |
dc.creator.author | Reed, Patrick | |
dc.creator.author | Havdahl, Alexandra | |
dc.creator.author | Moore, Tyler M. | |
dc.creator.author | Cliquet, Freddy | |
dc.creator.author | Leblond, Claire S. | |
dc.creator.author | Rolland, Thomas | |
dc.creator.author | Rosengren, Anders | |
dc.creator.author | Caceres, Antonia San Jose | |
dc.creator.author | Hayward, Hannah | |
dc.creator.author | Crawley, Daisy | |
dc.creator.author | Faulkner, Jessica | |
dc.creator.author | Sabet, Jessica | |
dc.creator.author | Ellis, Claire | |
dc.creator.author | Oakley, Bethany | |
dc.creator.author | Loth, Eva | |
dc.creator.author | Charman, Tony | |
dc.creator.author | Murphy, Declan | |
dc.creator.author | Holt, Rosemary | |
dc.creator.author | Waldman, Jack | |
dc.creator.author | Upadhyay, Jessica | |
dc.creator.author | Gunby, Nicola | |
dc.creator.author | Lai, Meng-Chuan | |
dc.creator.author | Renouf, Gwilym | |
dc.creator.author | Ruigrok, Amber | |
dc.creator.author | Taylor, Emily | |
dc.creator.author | Ziauddeen, Hisham | |
dc.creator.author | Deakin, Julia | |
dc.creator.author | di Bruttopilo, Sara Ambrosino | |
dc.creator.author | van Dijk, Sarai | |
dc.creator.author | Rijks, Yvonne | |
dc.creator.author | Koops, Tabitha | |
dc.creator.author | Douma, Miriam | |
dc.creator.author | Spaan, Alyssia | |
dc.creator.author | Selten, Iris | |
dc.creator.author | Steffers, Maarten | |
dc.creator.author | van Themaat, Anna Ver Loren | |
dc.creator.author | Bast, Nico | |
dc.creator.author | Baumeister, Sarah | |
dc.creator.author | O’Dwyer, Larry | |
dc.creator.author | Bours, Carsten | |
dc.creator.author | Rausch, Annika | |
dc.creator.author | von Rhein, Daniel | |
dc.creator.author | Cornelissen, Ineke | |
dc.creator.author | de Bruin, Yvette | |
dc.creator.author | Graauwmans, Maartje | |
dc.creator.author | Kostrzewa, Elzbieta | |
dc.creator.author | Cauvet, Elodie | |
dc.creator.author | Tammimies, Kristiina | |
dc.creator.author | Sitnikow, Rouslan | |
dc.creator.author | Dumas, Guillaume | |
dc.creator.author | Kim, Yang-Min | |
dc.creator.author | Bourgeron, Thomas | |
dc.creator.author | Hougaard, David M. | |
dc.creator.author | Bybjerg-Grauholm, Jonas | |
dc.creator.author | Werge, Thomas | |
dc.creator.author | Mortensen, Preben Bo | |
dc.creator.author | Mors, Ole | |
dc.creator.author | Nordentoft, Merete | |
dc.creator.author | Adhya, Dwaipayan | |
dc.creator.author | Alamanza, Armandina | |
dc.creator.author | Allison, Carrie | |
dc.creator.author | Garvey, Isabelle | |
dc.creator.author | Parsons, Tracey | |
dc.creator.author | Smith, Paula | |
dc.creator.author | Tsompanidis, Alex | |
dc.creator.author | Burton, Graham J. | |
dc.creator.author | Heazell, Alexander E. P. | |
dc.creator.author | Gabis, Lidia V. | |
dc.creator.author | Biron-Shental, Tal | |
dc.creator.author | Lancaster, Madeline A. | |
dc.creator.author | Srivastava, Deepak P. | |
dc.creator.author | Mill, Jonathan | |
dc.creator.author | Rowitch, David H. | |
dc.creator.author | Hurles, Matthew E. | |
dc.creator.author | Geschwind, Daniel H. | |
dc.creator.author | Børglum, Anders D. | |
dc.creator.author | Robinson, Elise B. | |
dc.creator.author | Grove, Jakob | |
dc.creator.author | Martin, Hilary C. | |
dc.creator.author | Bourgeron, Thomas | |
dc.creator.author | Baron-Cohen, Simon | |
cristin.unitcode | 185,17,5,7 | |
cristin.unitname | Helse-, utviklings- og personlighetspsyk | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.fulltext | original | |
cristin.qualitycode | 2 | |
dc.identifier.cristin | 2058278 | |
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=1293&rft.date=2022 | |
dc.identifier.jtitle | Nature Genetics | |
dc.identifier.volume | 54 | |
dc.identifier.issue | 9 | |
dc.identifier.startpage | 1293 | |
dc.identifier.endpage | 1304 | |
dc.identifier.doi | https://doi.org/10.1038/s41588-022-01072-5 | |
dc.type.document | Tidsskriftartikkel | |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 1061-4036 | |
dc.type.version | PublishedVersion | |
dc.relation.project | HSØ/2020022 | |
dc.relation.project | NFR/274611 | |
dc.relation.project | NFR/288083 |
Files in this item
Appears in the following Collection
-
Psykologisk institutt [4403]
-
CRIStin høstingsarkiv [31446]