High-Density SNP Association Study and Copy Number Variation Analysis of the AUTS1 and AUTS5 Loci Implicate the IMMP2L–DOCK4 Gene Region in Autism Susceptibility
Molecular Psychiatry (2010) 15, 954–968 & 2010 Macmillan Publishers Limited All rights reserved 1359-4184/10 www.nature.com/mp ORIGINAL ARTICLE High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility E Maestrini1,11, AT Pagnamenta2,11, JA Lamb2,3,11, E Bacchelli1, NH Sykes2, I Sousa2, C Toma1, G Barnby2, H Butler2, L Winchester2, TS Scerri2, F Minopoli1, J Reichert4, G Cai4, JD Buxbaum4, O Korvatska5, GD Schellenberg6, G Dawson7,8, A de Bildt9, RB Minderaa9, EJ Mulder9, AP Morris2, AJ Bailey10 and AP Monaco2, IMGSAC12 1Department of Biology, University of Bologna, Bologna, Italy; 2The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK; 3Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, UK; 4Department of Psychiatry, Seaver Autism Research Center, Mount Sinai School of Medicine, New York, NY, USA; 5Geriatric Research Education and Clinical Centre, Veterans Affairs Puget Sound Health Care System, Seattle Division, Seattle, WA, USA; 6Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA; 7Autism Speaks, New York, NY, USA; 8Department of Psychology, University of Washington, Seattle, WA, USA; 9Department of Psychiatry, Child and Adolescent Psychiatry, University Medical Center Groningen, Groningen, The Netherlands and 10University Department of Psychiatry, Warneford Hospital, Oxford, UK Autism spectrum disorders are a group of highly heritable neurodevelopmental disorders with a complex genetic etiology. The International Molecular Genetic Study of Autism Consortium previously identified linkage loci on chromosomes 7 and 2, termed AUTS1 and AUTS5, respectively. In this study, we performed a high-density association analysis in AUTS1 and AUTS5, testing more than 3000 single nucleotide polymorphisms (SNPs) in all known genes in each region, as well as SNPs in non-genic highly conserved sequences.
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