Journal article
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Nature genetics, Vol.39(3), pp.319-328
03/2007
DOI: 10.1038/ng1985
PMCID: PMC4867008
PMID: 17322880
Abstract
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
Details
- Title: Subtitle
- Mapping autism risk loci using genetic linkage and chromosomal rearrangements
- Creators
- Autism Genome Project ConsortiumAndrew Paterson - The Centre for Applied Genomics, TorontoLonnie Zwaigenbaum - Department of PediatricsWendy Roberts - Autism Research UnitJessica Brian - Autism Research UnitXiao-Qing Liu - The Centre for Applied Genomics, TorontoJohn Vincent - Department of PsychiatryJennifer Skaug - The Centre for Applied Genomics, TorontoAnn Thompson - Department of Psychiatry and Behavioural NeurosciencesLili Senman - Autism Research UnitLars Feuk - The Centre for Applied Genomics, TorontoCheng Qian - The Centre for Applied Genomics, TorontoSusan Bryson - Departments of Pediatrics and PsychologyMarshall Jones - Department of Neural and Behavioral SciencesChristian Marshall - The Centre for Applied Genomics, TorontoStephen Scherer - The Centre for Applied Genomics, TorontoVeronica Vieland - Battelle Center for Mathematical MedicineChristopher Bartlett - Department of Pathology and Laboratory MedicineLa Vonne Mangin - Battelle Center for Mathematical MedicineRhinda Goedken - Department of Computer ScienceAlberto Segre - Department of Computer ScienceMargaret Pericak-Vance - John P. Hussman Institute for Human GenomicsMichael Cuccaro - John P. Hussman Institute for Human GenomicsJohn Gilbert - John P. Hussman Institute for Human GenomicsHarry Wright - W.S. Hall Psychiatric InstituteRuth Abramson - W.S. Hall Psychiatric InstituteCatalina Betancur - Physiopathologie des Maladies du Système Nerveux CentralThomas Bourgeron - Génétique Humaine et Fonctions CognitivesChristopher Gillberg - Gillberg Neuropsychiatry Centre [Göteborg, Sueden]Marion Leboyer - Institut Mondor de Recherche BiomédicaleJoseph Buxbaum - Friedman Brain Institute, Mount SinaiKenneth Davis - Friedman Brain Institute, Mount SinaiEric Hollander - Friedman Brain Institute, Mount SinaiJeremy Silverman - Department of Psychiatry [Pittsburgh]Joachim Hallmayer - Stanford University School of Medicine [Stanford]Linda Lotspeich - Department of PsychiatryJames Sutcliffe - Vanderbilt Brain InstituteJonathan Haines - Vanderbilt Brain InstituteSusan Folstein - John P. Hussman Institute for Human GenomicsJoseph Piven - Carolina Institute for Developmental DisabilitiesThomas Wassink - Department of PsychiatryVal Sheffield - Department of PediatricsDaniel Geschwind - Department of NeurologyMaja Bucan - Department of GeneticsTed Brown - N.Y.S. Institute for Basic Research in Developmental DisabilitiesRita Cantor - Department of Human Genetics, UCLAJohn Constantino - Department of PsychiatryConrad Gilliam - University of ChicagoMartha Herbert - Harvard Medical School [Boston]Clara Lajonchere - Autism Genetic Resource ExchangeDavid Ledbetter - Department of GeneticsChrista Lese-Martin - Department of GeneticsJanet Miller - Cure Autism NowStan Nelson - Institute of Human GeneticsCarol Samango-Sprouse - Children's National Medical CenterSarah Spence - Department of Human Genetics, UCLAMatthew State - Institute of Human GeneticsRudolph Tanzi - Massachusetts General HospitalHilary Coon - Department of Developmental NeuroscienceGeraldine Dawson - Autism Speaks and the Department of PsychiatryBernie Devlin - Department of Psychiatry [Pittsburgh]Annette Estes - Department of Speech and Hearing Sciences [Washington]Pamela Flodman - Department of PediatricsLambertus Klei - Department of Psychiatry [Pittsburgh]William Mcmahon - Department of Developmental NeuroscienceNancy Minshew - Department of Psychiatry [Pittsburgh]Jeff Munson - Department of Psychiatry and Behavioral SciencesElena Korvatska - Department of PediatricsPatricia Rodier - Department of OB/GYNGerard Schellenberg - Pathology and Laboratory MedicineMoyra Smith - Department of PediatricsAnne Spence - Department of PediatricsChris Stodgell - Department of OB/GYNPing Guo Tepper - Department of EpidemiologyEllen Wijsman - Departments of Biostatistics and MedicineChang-En Yu - Department of MedicineBernadette Rogé - Octogone Unité de Recherche InterdisciplinaireCarine Mantoulan - Centre de Référence du Syndrome de Prader-WilliKerstin Wittemeyer - Department of PsychiatryAnnemarie Poustka - Division of Molecular Genome AnalysisBärbel Felder - Division of Molecular Genome AnalysisSabine Klauck - Division of Molecular Genome AnalysisClaudia Schuster - Division of Molecular Genome AnalysisFritz Poustka - Department of Child and Adolescent Psychiatry, Psychosomatics and PsychotherapySven Bölte - Department of Child and Adolescent Psychiatry, Psychosomatics and PsychotherapySabine Feineis-Matthews - Department of Child and Adolescent Psychiatry, Psychosomatics and PsychotherapyEvelyn Herbrecht - Department of Child and Adolescent Psychiatry, Psychosomatics and PsychotherapyGabi Schmötzer - Department of Child and Adolescent Psychiatry, Psychosomatics and PsychotherapyJohn Tsiantis - University Department of Child PsychiatryKaterina Papanikolaou - University Department of Child PsychiatryElena Maestrini - Department of Pharmacy and BiotechnologyElena Bacchelli - Department of Pharmacy and BiotechnologyFrancesca Blasi - Department of Pharmacy and BiotechnologySimona Carone - Medical Genetics LaboratoryClaudio Toma - Department of Pharmacy and BiotechnologyHerman Van Engeland - Department of PsychiatryMaretha De Jonge - Department of PsychiatryChantal Kemner - Department of NeurocognitionFrederieke Koop - Department of PsychiatryMarjolein Langemeijer - Department of Psychiatry
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.39(3), pp.319-328
- DOI
- 10.1038/ng1985
- PMID
- 17322880
- PMCID
- PMC4867008
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Publisher
- Nature Publishing Group
- Language
- English
- Date published
- 03/2007
- Academic Unit
- Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Nursing; Fraternal Order of Eagles Diabetes Research Center; Computer Science; Ophthalmology and Visual Sciences
- Record Identifier
- 9984004075802771
Metrics
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