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A genome-wide scan for common alleles affecting risk for autism.

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  • معلومة اضافية
    • Contributors:
      Division of Mental Health and Addiction; Oslo University Hospital Oslo; Department of Psychiatry Pittsburgh; University of Pittsburgh School of Medicine; Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE); Program in Genetics and Genomic Biology; Hospital for Sick Children-University of Toronto McLaughlin Centre; Academic Centre on Rare Diseases (ACoRD); University College Dublin Dublin (UCD); Instituto Nacional de Saùde Dr Ricardo Jorge Portugal (INSA); BioFIG; Center for Biodiversity, Functional and Integrative Genomics; Department of Neurology; University of California Los Angeles (UCLA); University of California (UC)-University of California (UC)-David Geffen School of Medicine Los Angeles; University of California (UC)-University of California (UC); The Wellcome Trust Centre for Human Genetics Oxford; University of Oxford; Unidade de Neurodesenvolvimento e Autismo (UNDA); Hospital Pediatrico de Coimbra; Department of Pharmacy and Biotechnology; Alma Mater Studiorum Università di Bologna = University of Bologna (UNIBO); Department of Psychiatry; University of Oxford-Warneford Hospital Oxford (WH); Newcomen Centre; Guy's Hospital London; Department of Psychiatry and Behavioral Sciences Stanford; Stanford Medicine; Stanford University-Stanford University; Child and Adolescent Mental Health; Newcastle University Newcastle; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy; Goethe-Universität Frankfurt am Main; Department of Child and Adolescent Psychiatry; Institute of psychiatry; Génétique Humaine et Fonctions Cognitives; Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS); Autism Research Unit; The Hospital for sick children Toronto (SickKids)-University of Toronto; Autism and Communicative Disorders Centre; University of Michigan Ann Arbor; University of Michigan System-University of Michigan System; Department of Molecular Physiology & Biophysics and Psychiatry; Vanderbilt University Nashville -Centers for Human Genetics Research and Molecular Neuroscience; Department of Statistics; Carnegie Mellon University Pittsburgh (CMU); Scientific Affairs; Autism Speaks; University of North Carolina Chapel Hill (UNC); University of North Carolina System (UNC)-University of North Carolina System (UNC); University Medical Center Utrecht (UMCU)-Brain Center Rudolf Magnus; Service de psychopathologie de l'enfant et de l'adolescent; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7); Department of Speech and Hearing Sciences Washington; University of Washington Seattle; Disciplines of Genetics and Medicine; Memorial University of Newfoundland = Université Memorial de Terre-Neuve St. John's, Canada (MUN); John P. Hussman Institute for Human Genomics; University of Miami Coral Gables; Department of Child Psychiatry; McGill University = Université McGill Montréal, Canada -Montreal Children's Hospital; McGill University Health Center Montreal (MUHC)-McGill University Health Center Montreal (MUHC); Göteborgs Universitet = University of Gothenburg (GU); The Center for Applied Genomics; Children’s Hospital of Philadelphia (CHOP ); Department of Psychiatry and Behavioural Neurosciences; McMaster University Hamilton, Ontario; Manchester Academic Health Sciences Centre; Institute for Juvenile Research-University of Illinois Chicago (UIC); University of Illinois System-University of Illinois System; Department of Pediatrics; Perelman School of Medicine; University of Pennsylvania-University of Pennsylvania-Children’s Hospital of Philadelphia (CHOP ); Division of Molecular Genome Analysis; German Cancer Research Center - Deutsches Krebsforschungszentrum Heidelberg (DKFZ); Human Genetics Center; The University of Texas Health Science Center at Houston (UTHealth); Department of Medicine; Autism Genetic Resource Exchange; Centre for Integrated Genomic Medical Research, Manchester; University of Manchester Manchester; Institut Universitaire d'Hématologie (IUH); Université Paris Diderot - Paris 7 (UPD7); Institut Mondor de Recherche Biomédicale (IMRB); Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12); Nathan Kline Institute for Psychiatric Research (NKI); Nathan Kline Institute for Psychiatric Research; New York University New York (NYU); NYU System (NYU)-NYU System (NYU)-NYU Child Study Center
    • بيانات النشر:
      HAL CCSD
      Oxford University Press (OUP)
    • الموضوع:
      2010
    • نبذة مختصرة :
      International audience ; Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
    • Relation:
      info:eu-repo/semantics/altIdentifier/pmid/20663923; inserm-00521391; https://inserm.hal.science/inserm-00521391; https://inserm.hal.science/inserm-00521391/document; https://inserm.hal.science/inserm-00521391/file/hmg.ddq307.full.pdf; PUBMED: 20663923
    • الرقم المعرف:
      10.1093/hmg/ddq307
    • Rights:
      info:eu-repo/semantics/OpenAccess
    • الرقم المعرف:
      edsbas.953576A1