Common genetic variants on 5p14.1 associate with autism spectrum disorders

Kai Wang; Haitao Zhang; Deqiong Ma; Maja Bucan; Joseph T Glessner; Brett S Abrahams; Daria Salyakina; Marcin Imielinski; Jonathan P Bradfield; Patrick M. A Sleiman; Cecilia E Kim; Cuiping Hou; Edward Frackelton; Rosetta Chiavacci; Nagahide Takahashi; Takeshi Sakurai; Eric Rappaport; Clara M Lajonchere; Jeffrey Munson; Annette Estes; Olena Korvatska; Joseph Piven; Lisa I Sonnenblick; Ana I Alvarez Retuerto; Edward I Herman; Hongmei Dong; Ted Hutman; Marian Sigman; Sally Ozonoff; Ami Klin; Thomas Owley; John A Sweeney; Camille W Brune; Rita M Cantor; Raphael Bernier; John R Gilbert; Michael L Cuccaro; William M McMahon; Judith Miller; Matthew W State; Thomas H Wassink; Hilary Coon; Susan E Levy; Robert T Schultz; John I Nurnberger; Jonathan L Haines; James S Sutcliffe; Edwin H Cook; Nancy J Minshew; Joseph D Buxbaum; Geraldine Dawson; Struan F. A Grant; Daniel H Geschwind; Margaret A Pericak-Vance; Gerard D Schellenberg; Hakon Hakonarson

doi:10.1038/nature07999

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Common genetic variants on 5p14.1 associate with autism spectrum disorders

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Common genetic variants on 5p14.1 associate with autism spectrum disorders

Kai Wang, Haitao Zhang, Deqiong Ma, Maja Bucan, Joseph T Glessner, Brett S Abrahams, Daria Salyakina, Marcin Imielinski, Jonathan P Bradfield, Patrick M. A Sleiman, …

Nature (London), Vol.459(7246), pp.528-533

05/28/2009

DOI: 10.1038/nature07999

PMCID: PMC2943511

PMID: 19404256

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Abstract

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 (

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Title: Subtitle: Common genetic variants on 5p14.1 associate with autism spectrum disorders
Creators: Kai Wang - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Haitao Zhang - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Deqiong Ma - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Maja Bucan - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Joseph T Glessner - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Brett S Abrahams - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Daria Salyakina - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Marcin Imielinski - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Jonathan P Bradfield - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Patrick M. A Sleiman - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Cecilia E Kim - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Cuiping Hou - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Edward Frackelton - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Rosetta Chiavacci - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Nagahide Takahashi - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Takeshi Sakurai - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Eric Rappaport - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Clara M Lajonchere - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Jeffrey Munson - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Annette Estes - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Olena Korvatska - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Joseph Piven - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Lisa I Sonnenblick - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Ana I Alvarez Retuerto - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Edward I Herman - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Hongmei Dong - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Ted Hutman - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Marian Sigman - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Sally Ozonoff - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Ami Klin - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Thomas Owley - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
John A Sweeney - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Camille W Brune - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Rita M Cantor - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Raphael Bernier - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
John R Gilbert - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Michael L Cuccaro - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
William M McMahon - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Judith Miller - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Matthew W State - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Thomas H Wassink - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Hilary Coon - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Susan E Levy - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Robert T Schultz - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
John I Nurnberger - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Jonathan L Haines - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
James S Sutcliffe - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Edwin H Cook - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Nancy J Minshew - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Joseph D Buxbaum - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Geraldine Dawson - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Struan F. A Grant - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Daniel H Geschwind - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Margaret A Pericak-Vance - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Gerard D Schellenberg - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Hakon Hakonarson - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA
Resource Type: Journal article
Publication Details: Nature (London), Vol.459(7246), pp.528-533
DOI: 10.1038/nature07999
PMID: 19404256
PMCID: PMC2943511
NLM abbreviation: Nature
ISSN: 0028-0836
eISSN: 1476-4687
Language: English
Date published: 05/28/2009
Academic Unit: Psychiatry; Stead Family Department of Pediatrics
Record Identifier: 9984004094802771

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