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The female protective effect against autism spectrum disorder.
Wigdor, Emilie M; Weiner, Daniel J; Grove, Jakob; Fu, Jack M; Thompson, Wesley K; Carey, Caitlin E; Baya, Nikolas; van der Merwe, Celia; Walters, Raymond K; Satterstrom, F Kyle; Palmer, Duncan S; Rosengren, Anders; Bybjerg-Grauholm, Jonas; Hougaard, David M; Mortensen, Preben Bo; Daly, Mark J; Talkowski, Michael E; Sanders, Stephan J; Bishop, Somer L; Børglum, Anders D; Robinson, Elise B.
Afiliação
  • Wigdor EM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Weiner DJ; Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.
  • Grove J; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Fu JM; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Thompson WK; Center for Genomics and Personalized Medicine (CGPM), Aarhus University, 8000 Aarhus, Denmark.
  • Carey CE; Department of Biomedicine (Human Genetics) and iSEQ Center, Aarhus University, 8000 Aarhus, Denmark.
  • Baya N; Bioinformatics Research Centre, Aarhus University, 8000 Aarhus, Denmark.
  • van der Merwe C; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, 8210 Aarhus, Denmark.
  • Walters RK; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Satterstrom FK; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Palmer DS; Laureate Institute for Brain Research, Tulsa, OK 74136, USA.
  • Rosengren A; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Bybjerg-Grauholm J; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Hougaard DM; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Mortensen PB; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Daly MJ; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Talkowski ME; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Sanders SJ; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Bishop SL; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Børglum AD; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Robinson EB; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Cell Genom ; 2(6): 100134, 2022 Jun 08.
Article em En | MEDLINE | ID: mdl-36778135
Autism spectrum disorder (ASD) is diagnosed three to four times more frequently in males than in females. Genetic studies of rare variants support a female protective effect (FPE) against ASD. However, sex differences in common inherited genetic risk for ASD are less studied, particularly within families. Leveraging the Danish iPSYCH resource, we found siblings of female ASD cases (n = 1,707) had higher rates of ASD than siblings of male ASD cases (n = 6,270; p < 1.0 × 10-10). In the Simons Simplex and SPARK collections, mothers of ASD cases (n = 7,436) carried more polygenic risk for ASD than fathers of ASD cases (n = 5,926; 0.08 polygenic risk score [PRS] SD; p = 7.0 × 10-7). Further, male unaffected siblings under-inherited polygenic risk (n = 1,519; p = 0.03). Using both epidemiologic and genetic approaches, our findings strongly support an FPE against ASD's common inherited influences.
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Cell Genom Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Cell Genom Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos