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

Journal article
Authors Richard Anney
Lambertus Klei
Dalila Pinto
Regina Regan
Judith Conroy
Tiago R Magalhaes
Catarina Correia
Brett S Abrahams
Nuala Sykes
Alistair T Pagnamenta
Joana Almeida
Elena Bacchelli
Anthony J Bailey
Gillian Baird
Agatino Battaglia
Tom Berney
Nadia Bolshakova
Sven Bölte
Patrick F. Bolton
Thomas Bourgeron
Sean Brennan
Jessica Brian
Andrew R Carson
Guillermo Casallo
Jillian Casey
Su H Chu
Lynne Cochrane
Christina Corsello
Emily L Crawford
Andrew Crossett
Geraldine Dawson
Maretha de Jonge
Richard Delorme
Irene Drmic
Eftichia Duketis
Frederico Duque
Annette Estes
Penny Farrar
Bridget A Fernandez
Susan E Folstein
Eric Fombonne
Christine M Freitag
John Gilbert
Christopher Gillberg
Joseph T Glessner
Jeremy Goldberg
Jonathan Green
Stephen J Guter
Hakon Hakonarson
Elizabeth A Heron
Matthew Hill
Richard Holt
Jennifer L Howe
Gillian Hughes
Vanessa Hus
Roberta Igliozzi
Cecilia Kim
Sabine M Klauck
Alexander Kolevzon
Olena Korvatska
Vlad Kustanovich
Clara M Lajonchere
Janine A Lamb
Magdalena Laskawiec
Marion Leboyer
Ann Le Couteur
Bennett L Leventhal
Anath C Lionel
Xiao-Qing Liu
Catherine Lord
Linda Lotspeich
Sabata C Lund
Elena Maestrini
William Mahoney
Carine Mantoulan
Christian R Marshall
Helen McConachie
Christopher J McDougle
Jane McGrath
William M McMahon
Nadine M Melhem
Alison Merikangas
Ohsuke Migita
Nancy J Minshew
Ghazala K Mirza
Jeff Munson
Stanley F Nelson
Carolyn Noakes
Abdul Noor
Gudrun Nygren
Guiomar Oliveira
Katerina Papanikolaou
Jeremy R Parr
Barbara Parrini
Tara Paton
Andrew Pickles
Joseph Piven
David J Posey
Annemarie Poustka
Fritz Poustka
Aparna Prasad
Jiannis Ragoussis
Katy Renshaw
Jessica Rickaby
Wendy Roberts
Kathryn Roeder
Bernadette Roge
Michael L Rutter
Laura J Bierut
John P Rice
Jeff Salt
Katherine Sansom
Daisuke Sato
Ricardo Segurado
Lili Senman
Naisha Shah
Val C Sheffield
Latha Soorya
Inês Sousa
Vera Stoppioni
Christina Strawbridge
Raffaella Tancredi
Katherine Tansey
Bhooma Thiruvahindrapduram
Ann P Thompson
Susanne Thomson
Ana Tryfon
John Tsiantis
Herman Van Engeland
John B Vincent
Fred Volkmar
Simon Wallace
Kai Wang
Zhouzhi Wang
Thomas H Wassink
Kirsty Wing
Kerstin Wittemeyer
Shawn Wood
Brian L Yaspan
Danielle Zurawiecki
Lonnie Zwaigenbaum
Catalina Betancur
Joseph D Buxbaum
Rita M Cantor
Edwin H Cook
Hilary Coon
Michael L Cuccaro
Louise Gallagher
Daniel H Geschwind
Michael Gill
Jonathan L Haines
Judith Miller
Anthony P Monaco
John I Nurnberger
Andrew D Paterson
Margaret A Pericak-Vance
Gerard D Schellenberg
Stephen W Scherer
James S Sutcliffe
Peter Szatmari
Astrid M Vicente
Veronica J Vieland
Ellen M Wijsman
Bernie Devlin
Sean Ennis
Joachim Hallmayer
Published in Human Molecular Genetics
Volume 19
Issue 20
Pages 4072-4082
ISSN 0964-6906
Publication year 2010
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages 4072-4082
Language en
Keywords Alleles, Autistic Disorder, Genetics, DNA Copy Number Variations, Databases, Genetic, European Continental Ancestry Group, Genetics, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Genome-Wide Association Study, Genotype, Humans, Polymorphism, Single Nucleotide, Risk Factors
Subject categories Child and adolescent psychiatry


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.

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