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Genetic correlates of phenotypic heterogeneity in autism.
Warrier, Varun; Zhang, Xinhe; Reed, Patrick; Havdahl, Alexandra; Moore, Tyler M; Cliquet, Freddy; Leblond, Claire S; Rolland, Thomas; Rosengren, Anders; 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.
Afiliação
  • Warrier V; Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK. vw260@medschl.cam.ac.uk.
  • Zhang X; Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK.
  • Reed P; Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK.
  • Havdahl A; Nic Waals Institute, Lovisenberg Diaconal Hospital, Oslo, Norway.
  • Moore TM; Department of Mental Disorders, Norwegian Institute of Public Health, Oslo, Norway.
  • Cliquet F; PROMENTA Research Center, Department of Psychology, University of Oslo, Oslo, Norway.
  • Leblond CS; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA, USA.
  • Rolland T; Lifespan Brain Institute of the Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA, USA.
  • Rosengren A; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, Université de Paris Cité, Paris, France.
  • Rowitch DH; Institute of Biological Psychiatry, MHC Sct Hans, Copenhagen University Hospital, Copenhagen, Denmark.
  • Robinson EB; Department of Paediatrics, Cambridge University Clinical School, Cambridge, UK.
  • Grove J; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
  • Martin HC; Program in Neurobehavioral Genetics, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
  • Bourgeron T; Department of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
  • Baron-Cohen S; Department of Psychiatry, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Nat Genet ; 54(9): 1293-1304, 2022 09.
Article em En | MEDLINE | ID: mdl-35654973
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 (nmax = 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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Transtorno do Espectro Autista / Deficiência Intelectual Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Transtorno do Espectro Autista / Deficiência Intelectual Idioma: En Ano de publicação: 2022 Tipo de documento: Article