{"PubmedArticle":{"MedlineCitation":{"@attributes":{"Status":"MEDLINE","Owner":"NLM","IndexingMethod":"Manual"},"PMID":{"@attributes":{"Version":"1"},"@text":"19404256"},"DateCompleted":{"Year":"2009","Month":"07","Day":"20"},"DateRevised":{"Year":"2025","Month":"05","Day":"29"},"Article":{"@attributes":{"PubModel":"Print-Electronic"},"Journal":{"ISSN":{"@attributes":{"IssnType":"Electronic"},"@text":"1476-4687"},"JournalIssue":{"@attributes":{"CitedMedium":"Internet"},"Volume":"459","Issue":"7246","PubDate":{"Year":"2009","Month":"May","Day":"28"}},"Title":"Nature","ISOAbbreviation":"Nature"},"ArticleTitle":"Common genetic variants on 5p14.1 associate with autism spectrum disorders.","Pagination":{"StartPage":"528","EndPage":"533","MedlinePgn":"528-33"},"ELocationID":[{"@attributes":{"EIdType":"doi","ValidYN":"Y"},"@text":"10.1038\/nature07999"}],"Abstract":{"AbstractText":["Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental and neuropsychiatric disorders characterized by deficits in verbal communication, impairment of social interaction, and restricted and repetitive patterns of interests and behaviour. To identify common genetic risk factors underlying ASDs, here we present the results of genome-wide association studies on a cohort of 780 families (3,101 subjects) with affected children, and a second cohort of 1,204 affected subjects and 6,491 control subjects, all of whom were of European ancestry. Six single nucleotide polymorphisms between cadherin 10 (CDH10) and cadherin 9 (CDH9)-two genes encoding neuronal cell-adhesion molecules-revealed strong association signals, with the most significant SNP being rs4307059 (P = 3.4 x 10(-8), odds ratio = 1.19). These signals were replicated in two independent cohorts, with combined P values ranging from 7.4 x 10(-8) to 2.1 x 10(-10). Our results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to our knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs."]},"AuthorList":{"@attributes":{"CompleteYN":"Y"},"Author":[{"@attributes":{"ValidYN":"Y"},"LastName":"Wang","ForeName":"Kai","Initials":"K","AffiliationInfo":[{"Affiliation":"Center for Applied Genomics, Children's Hospital of Philadelphia, Pennsylvania 19104, USA."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Zhang","ForeName":"Haitao","Initials":"H"},{"@attributes":{"ValidYN":"Y"},"LastName":"Ma","ForeName":"Deqiong","Initials":"D"},{"@attributes":{"ValidYN":"Y"},"LastName":"Bucan","ForeName":"Maja","Initials":"M"},{"@attributes":{"ValidYN":"Y"},"LastName":"Glessner","ForeName":"Joseph T","Initials":"JT"},{"@attributes":{"ValidYN":"Y"},"LastName":"Abrahams","ForeName":"Brett S","Initials":"BS"},{"@attributes":{"ValidYN":"Y"},"LastName":"Salyakina","ForeName":"Daria","Initials":"D"},{"@attributes":{"ValidYN":"Y"},"LastName":"Imielinski","ForeName":"Marcin","Initials":"M"},{"@attributes":{"ValidYN":"Y"},"LastName":"Bradfield","ForeName":"Jonathan P","Initials":"JP"},{"@attributes":{"ValidYN":"Y"},"LastName":"Sleiman","ForeName":"Patrick M A","Initials":"PM"},{"@attributes":{"ValidYN":"Y"},"LastName":"Kim","ForeName":"Cecilia E","Initials":"CE"},{"@attributes":{"ValidYN":"Y"},"LastName":"Hou","ForeName":"Cuiping","Initials":"C"},{"@attributes":{"ValidYN":"Y"},"LastName":"Frackelton","ForeName":"Edward","Initials":"E"},{"@attributes":{"ValidYN":"Y"},"LastName":"Chiavacci","ForeName":"Rosetta","Initials":"R"},{"@attributes":{"ValidYN":"Y"},"LastName":"Takahashi","ForeName":"Nagahide","Initials":"N"},{"@attributes":{"ValidYN":"Y"},"LastName":"Sakurai","ForeName":"Takeshi","Initials":"T"},{"@attributes":{"ValidYN":"Y"},"LastName":"Rappaport","ForeName":"Eric","Initials":"E"},{"@attributes":{"ValidYN":"Y"},"LastName":"Lajonchere","ForeName":"Clara M","Initials":"CM"},{"@attributes":{"ValidYN":"Y"},"LastName":"Munson","ForeName":"Jeffrey","Initials":"J"},{"@attributes":{"ValidYN":"Y"},"LastName":"Estes","ForeName":"Annette","Initials":"A"},{"@attributes":{"ValidYN":"Y"},"LastName":"Korvatska","ForeName":"Olena","Initials":"O"},{"@attributes":{"ValidYN":"Y"},"LastName":"Piven","ForeName":"Joseph","Initials":"J"},{"@attributes":{"ValidYN":"Y"},"LastName":"Sonnenblick","ForeName":"Lisa I","Initials":"LI"},{"@attributes":{"ValidYN":"Y"},"LastName":"Alvarez Retuerto","ForeName":"Ana I","Initials":"AI"},{"@attributes":{"ValidYN":"Y"},"LastName":"Herman","ForeName":"Edward I","Initials":"EI"},{"@attributes":{"ValidYN":"Y"},"LastName":"Dong","ForeName":"Hongmei","Initials":"H"},{"@attributes":{"ValidYN":"Y"},"LastName":"Hutman","ForeName":"Ted","Initials":"T"},{"@attributes":{"ValidYN":"Y"},"LastName":"Sigman","ForeName":"Marian","Initials":"M"},{"@attributes":{"ValidYN":"Y"},"LastName":"Ozonoff","ForeName":"Sally","Initials":"S"},{"@attributes":{"ValidYN":"Y"},"LastName":"Klin","ForeName":"Ami","Initials":"A"},{"@attributes":{"ValidYN":"Y"},"LastName":"Owley","ForeName":"Thomas","Initials":"T"},{"@attributes":{"ValidYN":"Y"},"LastName":"Sweeney","ForeName":"John A","Initials":"JA"},{"@attributes":{"ValidYN":"Y"},"LastName":"Brune","ForeName":"Camille W","Initials":"CW"},{"@attributes":{"ValidYN":"Y"},"LastName":"Cantor","ForeName":"Rita M","Initials":"RM"},{"@attributes":{"ValidYN":"Y"},"LastName":"Bernier","ForeName":"Raphael","Initials":"R"},{"@attributes":{"ValidYN":"Y"},"LastName":"Gilbert","ForeName":"John R","Initials":"JR"},{"@attributes":{"ValidYN":"Y"},"LastName":"Cuccaro","ForeName":"Michael L","Initials":"ML"},{"@attributes":{"ValidYN":"Y"},"LastName":"McMahon","ForeName":"William M","Initials":"WM"},{"@attributes":{"ValidYN":"Y"},"LastName":"Miller","ForeName":"Judith","Initials":"J"},{"@attributes":{"ValidYN":"Y"},"LastName":"State","ForeName":"Matthew W","Initials":"MW"},{"@attributes":{"ValidYN":"Y"},"LastName":"Wassink","ForeName":"Thomas H","Initials":"TH"},{"@attributes":{"ValidYN":"Y"},"LastName":"Coon","ForeName":"Hilary","Initials":"H"},{"@attributes":{"ValidYN":"Y"},"LastName":"Levy","ForeName":"Susan E","Initials":"SE"},{"@attributes":{"ValidYN":"Y"},"LastName":"Schultz","ForeName":"Robert T","Initials":"RT"},{"@attributes":{"ValidYN":"Y"},"LastName":"Nurnberger","ForeName":"John I","Initials":"JI"},{"@attributes":{"ValidYN":"Y"},"LastName":"Haines","ForeName":"Jonathan L","Initials":"JL"},{"@attributes":{"ValidYN":"Y"},"LastName":"Sutcliffe","ForeName":"James S","Initials":"JS"},{"@attributes":{"ValidYN":"Y"},"LastName":"Cook","ForeName":"Edwin H","Initials":"EH"},{"@attributes":{"ValidYN":"Y"},"LastName":"Minshew","ForeName":"Nancy J","Initials":"NJ"},{"@attributes":{"ValidYN":"Y"},"LastName":"Buxbaum","ForeName":"Joseph D","Initials":"JD"},{"@attributes":{"ValidYN":"Y"},"LastName":"Dawson","ForeName":"Geraldine","Initials":"G"},{"@attributes":{"ValidYN":"Y"},"LastName":"Grant","ForeName":"Struan F A","Initials":"SF"},{"@attributes":{"ValidYN":"Y"},"LastName":"Geschwind","ForeName":"Daniel H","Initials":"DH"},{"@attributes":{"ValidYN":"Y"},"LastName":"Pericak-Vance","ForeName":"Margaret A","Initials":"MA"},{"@attributes":{"ValidYN":"Y"},"LastName":"Schellenberg","ForeName":"Gerard D","Initials":"GD"},{"@attributes":{"ValidYN":"Y"},"LastName":"Hakonarson","ForeName":"Hakon","Initials":"H"}]},"Language":["eng"],"GrantList":{"@attributes":{"CompleteYN":"Y"},"Grant":[{"GrantID":"MH0666730","Acronym":"MH","Agency":"NIMH NIH HHS","Country":"United States"},{"GrantID":"NS049261","Acronym":"NS","Agency":"NINDS NIH HHS","Country":"United States"},{"GrantID":"1U24MH081810","Acronym":"MH","Agency":"NIMH NIH HHS","Country":"United States"},{"GrantID":"N01-HD-4-3368","Acronym":"HD","Agency":"NICHD NIH HHS","Country":"United States"},{"GrantID":"R01 NS036768","Acronym":"NS","Agency":"NINDS NIH HHS","Country":"United States"},{"GrantID":"P50 HD055748","Acronym":"HD","Agency":"NICHD NIH HHS","Country":"United States"},{"GrantID":"P50 HD055784","Acronym":"HD","Agency":"NICHD NIH HHS","Country":"United States"},{"GrantID":"R01 MH064547","Acronym":"MH","Agency":"NIMH NIH HHS","Country":"United States"},{"GrantID":"UL1-RR024134-03","Acronym":"RR","Agency":"NCRR NIH HHS","Country":"United States"},{"GrantID":"MH69359","Acronym":"MH","Agency":"NIMH NIH HHS","Country":"United States"},{"GrantID":"U54 MH066673","Acronym":"MH","Agency":"NIMH NIH HHS","Country":"United States"},{"GrantID":"U24 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States"},{"GrantID":"UL1 RR024134","Acronym":"RR","Agency":"NCRR NIH HHS","Country":"United States"},{"GrantID":"HD055751","Acronym":"HD","Agency":"NICHD NIH HHS","Country":"United States"}]},"PublicationTypeList":{"PublicationType":[{"@attributes":{"UI":"D016428"},"@text":"Journal Article"},{"@attributes":{"UI":"D052061"},"@text":"Research Support, N.I.H., Extramural"},{"@attributes":{"UI":"D013485"},"@text":"Research Support, Non-U.S. Gov't"},{"@attributes":{"UI":"D013486"},"@text":"Research Support, U.S. Gov't, Non-P.H.S."}]},"ArticleDate":[{"@attributes":{"DateType":"Electronic"},"Year":"2009","Month":"04","Day":"28"}]},"MedlineJournalInfo":{"Country":"England","MedlineTA":"Nature","NlmUniqueID":"0410462","ISSNLinking":"0028-0836"},"ChemicalList":{"Chemical":[{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"C107751"},"@text":"CDH10 protein, human"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"C430712"},"@text":"CDH9 protein, human"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D015820"},"@text":"Cadherins"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D015816"},"@text":"Cell Adhesion Molecules, Neuronal"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D005819"},"@text":"Genetic Markers"}}]},"CitationSubset":["IM"],"MeshHeadingList":{"MeshHeading":[{"DescriptorName":{"@attributes":{"UI":"D001321","MajorTopicYN":"N"},"@text":"Autistic Disorder"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"Y"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D001921","MajorTopicYN":"N"},"@text":"Brain"},"QualifierName":[{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"}]},{"DescriptorName":{"@attributes":{"UI":"D015820","MajorTopicYN":"N"},"@text":"Cadherins"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D016022","MajorTopicYN":"N"},"@text":"Case-Control Studies"}},{"DescriptorName":{"@attributes":{"UI":"D002448","MajorTopicYN":"N"},"@text":"Cell Adhesion"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D015816","MajorTopicYN":"N"},"@text":"Cell Adhesion Molecules, Neuronal"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D002895","MajorTopicYN":"N"},"@text":"Chromosomes, Human, Pair 5"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"Y"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D015331","MajorTopicYN":"N"},"@text":"Cohort Studies"}},{"DescriptorName":{"@attributes":{"UI":"D005819","MajorTopicYN":"N"},"@text":"Genetic Markers"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D020022","MajorTopicYN":"N"},"@text":"Genetic Predisposition to Disease"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"Y"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D014644","MajorTopicYN":"N"},"@text":"Genetic 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Results"}}]}},"PubmedData":{"History":{"PubMedPubDate":[{"@attributes":{"PubStatus":"received"},"Year":"2008","Month":"11","Day":"28"},{"@attributes":{"PubStatus":"accepted"},"Year":"2009","Month":"3","Day":"18"},{"@attributes":{"PubStatus":"entrez"},"Year":"2009","Month":"5","Day":"1","Hour":"9","Minute":"0"},{"@attributes":{"PubStatus":"pubmed"},"Year":"2009","Month":"5","Day":"1","Hour":"9","Minute":"0"},{"@attributes":{"PubStatus":"medline"},"Year":"2009","Month":"7","Day":"21","Hour":"9","Minute":"0"},{"@attributes":{"PubStatus":"pmc-release"},"Year":"2010","Month":"9","Day":"21"}]},"PublicationStatus":"ppublish","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"19404256"},{"@attributes":{"IdType":"mid"},"@text":"NIHMS140827"},{"@attributes":{"IdType":"pmc"},"@text":"PMC2943511"},{"@attributes":{"IdType":"doi"},"@text":"10.1038\/nature07999"},{"@attributes":{"IdType":"pii"},"@text":"nature07999"}]},"ReferenceList":[{"Reference":[{"Citation":"Abrahams BS, 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