Phenotypic effects of genetic variants associated with autism

  1. Rolland, Thomas ORCID logo
  2. Cliquet, Freddy ORCID logo
  3. Anney, Richard ORCID logo
  4. MOREAU, Clara A ORCID logo
  5. Traut, Nicolas
  6. Mathieu, Alexandre
  7. Huguet, Guillaume ORCID logo
  8. Duan, Jinjie
  9. Warrier, Varun ORCID logo
  10. Portalier, Swan
  11. Dry, Louise
  12. Leblond, Claire S.
  13. Elise, Douard ORCID logo
  14. Amsellem, Frédérique
  15. Malesys, Simon ORCID logo
  16. Maruani, Anna
  17. Toro, Roberto
  18. Børglum, Anders ORCID logo
  19. Grove, Jakob ORCID logo
  20. Baron-Cohen, Simon ORCID logo
  21. Packer, Alan ORCID logo
  22. Chung, Wendy ORCID logo
  23. Jacquemont, Sebastien ORCID logo
  24. Delorme, Richard
  25. Bourgeron, Thomas ORCID logo

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s41591-023-02408-2.pdf 6,74MB
WeightNameValue
1000 Titel
  • Phenotypic effects of genetic variants associated with autism
1000 Autor/in
  1. Rolland, Thomas |
  2. Cliquet, Freddy |
  3. Anney, Richard |
  4. MOREAU, Clara A |
  5. Traut, Nicolas |
  6. Mathieu, Alexandre |
  7. Huguet, Guillaume |
  8. Duan, Jinjie |
  9. Warrier, Varun |
  10. Portalier, Swan |
  11. Dry, Louise |
  12. Leblond, Claire S. |
  13. Elise, Douard |
  14. Amsellem, Frédérique |
  15. Malesys, Simon |
  16. Maruani, Anna |
  17. Toro, Roberto |
  18. Børglum, Anders |
  19. Grove, Jakob |
  20. Baron-Cohen, Simon |
  21. Packer, Alan |
  22. Chung, Wendy |
  23. Jacquemont, Sebastien |
  24. Delorme, Richard |
  25. Bourgeron, Thomas |
1000 Erscheinungsjahr 2023
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2023-06-26
1000 Erschienen in
1000 Quellenangabe
  • 29(7):1671-1680
1000 Copyrightjahr
  • 2023
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1038/s41591-023-02408-2 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10353945/ |
1000 Ergänzendes Material
  • https://www.nature.com/articles/s41591-023-02408-2#Sec29 |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • While over 100 genes have been associated with autism, little is known about the prevalence of variants affecting them in individuals without a diagnosis of autism. Nor do we fully appreciate the phenotypic diversity beyond the formal autism diagnosis. Based on data from more than 13,000 individuals with autism and 210,000 undiagnosed individuals, we estimated the odds ratios for autism associated to rare loss-of-function (LoF) variants in 185 genes associated with autism, alongside 2,492 genes displaying intolerance to LoF variants. In contrast to autism-centric approaches, we investigated the correlates of these variants in individuals without a diagnosis of autism. We show that these variants are associated with a small but significant decrease in fluid intelligence, qualification level and income and an increase in metrics related to material deprivation. These effects were larger for autism-associated genes than in other LoF-intolerant genes. Using brain imaging data from 21,040 individuals from the UK Biobank, we could not detect significant differences in the overall brain anatomy between LoF carriers and non-carriers. Our results highlight the importance of studying the effect of the genetic variants beyond categorical diagnosis and the need for more research to understand the association between these variants and sociodemographic factors, to best support individuals carrying these variants.
1000 Sacherschließung
lokal Autism spectrum disorders
lokal Genetics research
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
  1. http://orcid.org/0000-0001-6468-8391|http://orcid.org/0000-0002-9989-0685|http://orcid.org/0000-0002-6083-407X|http://orcid.org/0000-0001-6217-731X|https://frl.publisso.de/adhoc/uri/VHJhdXQsIE5pY29sYXM=|https://frl.publisso.de/adhoc/uri/TWF0aGlldSwgQWxleGFuZHJl|http://orcid.org/0000-0002-4746-6030|https://frl.publisso.de/adhoc/uri/RHVhbiwgSmluamll|http://orcid.org/0000-0003-4532-8571|https://frl.publisso.de/adhoc/uri/UG9ydGFsaWVyLCBTd2Fu|https://frl.publisso.de/adhoc/uri/RHJ5LCBMb3Vpc2U=|https://frl.publisso.de/adhoc/uri/TGVibG9uZCwgQ2xhaXJlIFMu|http://orcid.org/0000-0003-4205-8828|https://frl.publisso.de/adhoc/uri/QW1zZWxsZW0sIEZyw6lkw6lyaXF1ZQ==|http://orcid.org/0000-0003-1863-1970|https://frl.publisso.de/adhoc/uri/TWFydWFuaSwgQW5uYQ==|https://frl.publisso.de/adhoc/uri/VG9ybywgUm9iZXJ0bw==|http://orcid.org/0000-0001-8627-7219|http://orcid.org/0000-0003-2284-5744|http://orcid.org/0000-0001-9217-2544|http://orcid.org/0000-0002-3171-8192|http://orcid.org/0000-0003-3438-5685|http://orcid.org/0000-0001-6838-8767|https://frl.publisso.de/adhoc/uri/RGVsb3JtZSwgUmljaGFyZA==|http://orcid.org/0000-0001-8164-9220
1000 Label
1000 Förderer
  1. Simons Foundation Autism Research Initiative |
  2. UK Biobank Resource |
  3. Simons Foundation Autism Research Initiative |
  4. National Institutes of Health |
  5. Canadian Institutes of Health Research |
  6. Institut de Valorisation des Données |
  7. Horizon Europe programs CANDY and R2D2-MH |
  8. UK Research and Innovation under the UK government’s Horizon Europe funding guarantee |
  9. Lundbeck Foundation |
  10. Universities and University Hospitals of Aarhus and Copenhagen |
  11. Center for Genomics and Personalized Medicine and the Centre for Integrative Sequencing |
  12. Wellcome Trust |
  13. Autism Centre of Excellence |
  14. Medical Research Council and the National Institute for Health Research Cambridge Biomedical Research Centre |
  15. National Institute for Health Research Applied Research Collaboration East of England |
1000 Fördernummer
  1. -
  2. 18584
  3. 240059
  4. 1U01MH119690–01
  5. CIHR_400528
  6. -
  7. 847818;101057385
  8. 10039383
  9. R102-A9118;R155-2014-1724;R248-2017-2003
  10. -
  11. -
  12. 214322\Z\18\Z
  13. -
  14. -
  15. -
1000 Förderprogramm
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  2. -
  3. -
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1000 Dateien
  1. Phenotypic effects of genetic variants associated with autism
    Phenotypic effects of genetic variants associated with autism
1000 Förderung
  1. 1000 joinedFunding-child
    1000 Förderer Simons Foundation Autism Research Initiative |
    1000 Förderprogramm -
    1000 Fördernummer -
  2. 1000 joinedFunding-child
    1000 Förderer UK Biobank Resource |
    1000 Förderprogramm -
    1000 Fördernummer 18584
  3. 1000 joinedFunding-child
    1000 Förderer Simons Foundation Autism Research Initiative |
    1000 Förderprogramm -
    1000 Fördernummer 240059
  4. 1000 joinedFunding-child
    1000 Förderer National Institutes of Health |
    1000 Förderprogramm -
    1000 Fördernummer 1U01MH119690–01
  5. 1000 joinedFunding-child
    1000 Förderer Canadian Institutes of Health Research |
    1000 Förderprogramm -
    1000 Fördernummer CIHR_400528
  6. 1000 joinedFunding-child
    1000 Förderer Institut de Valorisation des Données |
    1000 Förderprogramm -
    1000 Fördernummer -
  7. 1000 joinedFunding-child
    1000 Förderer Horizon Europe programs CANDY and R2D2-MH |
    1000 Förderprogramm -
    1000 Fördernummer 847818;101057385
  8. 1000 joinedFunding-child
    1000 Förderer UK Research and Innovation under the UK government’s Horizon Europe funding guarantee |
    1000 Förderprogramm -
    1000 Fördernummer 10039383
  9. 1000 joinedFunding-child
    1000 Förderer Lundbeck Foundation |
    1000 Förderprogramm -
    1000 Fördernummer R102-A9118;R155-2014-1724;R248-2017-2003
  10. 1000 joinedFunding-child
    1000 Förderer Universities and University Hospitals of Aarhus and Copenhagen |
    1000 Förderprogramm -
    1000 Fördernummer -
  11. 1000 joinedFunding-child
    1000 Förderer Center for Genomics and Personalized Medicine and the Centre for Integrative Sequencing |
    1000 Förderprogramm -
    1000 Fördernummer -
  12. 1000 joinedFunding-child
    1000 Förderer Wellcome Trust |
    1000 Förderprogramm -
    1000 Fördernummer 214322\Z\18\Z
  13. 1000 joinedFunding-child
    1000 Förderer Autism Centre of Excellence |
    1000 Förderprogramm -
    1000 Fördernummer -
  14. 1000 joinedFunding-child
    1000 Förderer Medical Research Council and the National Institute for Health Research Cambridge Biomedical Research Centre |
    1000 Förderprogramm -
    1000 Fördernummer -
  15. 1000 joinedFunding-child
    1000 Förderer National Institute for Health Research Applied Research Collaboration East of England |
    1000 Förderprogramm -
    1000 Fördernummer -
1000 Objektart article
1000 Beschrieben durch
1000 @id frl:6465532.rdf
1000 Erstellt am 2023-11-16T14:38:46.382+0100
1000 Erstellt von 337
1000 beschreibt frl:6465532
1000 Bearbeitet von 317
1000 Zuletzt bearbeitet Fri Nov 17 10:38:11 CET 2023
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1000 Vgl. frl:6465532
1000 Oai Id
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