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

Richard Anney; Sean Brennan; Vanessa Hus; Lambertus Klei; Dalila Pinto; Regina Regan; Judith Conroy; Tiago Magalhaes; Catarina Correia; Brett Abrahams; Nuala Sykes; Alistair Pagnamenta; Joana Almeida; Elena Bacchelli; Anthony Bailey; Gillian Baird; Agatino Battaglia; Tom Berney; Nadia Bolshakova; Sven Bölte; Patrick Bolton; Thomas Bourgeron; Jessica Brian; Andrew Carson; Guillermo Casallo; Jillian Casey; Su Chu; Lynne Cochrane; Christina Corsello; Emily Crawford; Andrew Crossett; Geraldine Dawson; Maretha De Jonge; Richard Delorme; Irene Drmic; Eftichia Duketis; Frederico Duque; Annette Estes; Penny Farrar; Bridget Fernandez; Susan Folstein; Eric Fombonne; Christine Freitag; John Gilbert; Christopher Gillberg; Joseph Glessner; Jeremy Goldberg; Jonathan Green; Stephen Guter; Hakon Hakonarson; Elizabeth Heron; Matthew Hill; Richard Holt; Jennifer Howe; Gillian Hughes; Roberta Igliozzi; Cecilia Kim; Sabine Klauck; Alexander Kolevzon; Olena Korvatska; Vlad Kustanovich; Clara Lajonchere; Janine Lamb; Magdalena Laskawiec; Marion Leboyer; Ann Le Couteur; Bennett Leventhal; Anath Lionel; Xiao-Qing Liu; Catherine Lord; Linda Lotspeich; Sabata Lund; Elena Maestrini; William Mahoney; Carine Mantoulan; Christian Marshall; Helen Mcconachie; Christopher Mcdougle; Jane Mcgrath; William Mcmahon; Nadine Melhem; Alison Merikangas; Ohsuke Migita; Nancy Minshew; Ghazala Mirza; Jeff Munson; Stanley Nelson; Carolyn Noakes; Abdul Noor; Gudrun Nygren; Guiomar Oliveira; Katerina Papanikolaou; Jeremy Parr; Barbara Parrini; Tara Paton; Andrew Pickles; Joseph Piven; David Posey; Annemarie Poustka; Fritz Poustka; Sahlgrenska akademin

doi:10.1093/hmg/ddq307

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

Journal article

Open access

Peer reviewed

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

Richard Anney, Sean Brennan, Vanessa Hus, Lambertus Klei, Dalila Pinto, Regina Regan, Judith Conroy, Tiago Magalhaes, Catarina Correia, Brett Abrahams, …

Human molecular genetics, Vol.19(20), pp.4072-4082

10/15/2010

DOI: https://doi.org/10.1093/hmg/ddq307

PMCID: PMC2947401

PMID: 20663923

Abstract

Alleles

Autistic Disorder

Databases, Genetic

DNA Copy Number Variations

European Continental Ancestry Group

Genetic Predisposition to Disease

Genetic Variation

Genome, Human

Genome-Wide Association Study

Genotype

Humans

Polymorphism, Single Nucleotide

Risk Factors

Genetics

Life Sciences

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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Title: A genome-wide scan for common alleles affecting risk for autism
Creators: Richard Anney - Division of Mental Health and Addiction
Sean Brennan - Division of Mental Health and Addiction
Vanessa Hus - Autism and Communicative Disorders Centre
Lambertus Klei - Department of Psychiatry [Pittsburgh]
Dalila Pinto - Program in Genetics and Genomic Biology
Regina Regan - Academic Centre on Rare Diseases
Judith Conroy - Academic Centre on Rare Diseases
Tiago Magalhaes - Instituto Nacional de Saùde Dr Ricardo Jorge [Portugal]
Catarina Correia - Instituto Nacional de Saùde Dr Ricardo Jorge [Portugal]
Brett Abrahams - Department of Neurology
Nuala Sykes - The Wellcome Trust Centre for Human Genetics [Oxford]
Alistair Pagnamenta - The Wellcome Trust Centre for Human Genetics [Oxford]
Joana Almeida - Unidade de Neurodesenvolvimento e Autismo
Elena Bacchelli - Department of Pharmacy and Biotechnology
Anthony Bailey - Department of Psychiatry
Gillian Baird - Newcomen Centre
Agatino Battaglia - Department of Psychiatry and Behavioral Sciences [Stanford]
Tom Berney - Child and Adolescent Mental Health
Nadia Bolshakova - Division of Mental Health and Addiction
Sven Bölte - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
Patrick Bolton - Department of Child and Adolescent Psychiatry
Thomas Bourgeron - Génétique Humaine et Fonctions Cognitives
Jessica Brian - Autism Research Unit
Andrew Carson - Program in Genetics and Genomic Biology
Guillermo Casallo - Program in Genetics and Genomic Biology
Jillian Casey - Academic Centre on Rare Diseases
Su Chu - Department of Psychiatry [Pittsburgh]
Lynne Cochrane - Division of Mental Health and Addiction
Christina Corsello - Autism and Communicative Disorders Centre
Emily Crawford - Department of Molecular Physiology & Biophysics and Psychiatry
Andrew Crossett - Department of Statistics
Geraldine Dawson - Scientific Affairs
Maretha De Jonge - Department of Psychiatry
Richard Delorme - Service de psychopathologie de l'enfant et de l'adolescent
Irene Drmic - Autism Research Unit
Eftichia Duketis - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
Frederico Duque - Unidade de Neurodesenvolvimento e Autismo
Annette Estes - Department of Speech and Hearing Sciences [Washington]
Penny Farrar - The Wellcome Trust Centre for Human Genetics [Oxford]
Bridget Fernandez - Disciplines of Genetics and Medicine
Susan Folstein - John P. Hussman Institute for Human Genomics
Eric Fombonne - Department of Child Psychiatry
Christine Freitag - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
John Gilbert - John P. Hussman Institute for Human Genomics
Christopher Gillberg - Department of Child and Adolescent Psychiatry
Joseph Glessner - The Center for Applied Genomics
Jeremy Goldberg - Department of Psychiatry and Behavioural Neurosciences
Jonathan Green - Manchester Academic Health Sciences Centre
Stephen Guter - Department of Psychiatry
Hakon Hakonarson - The Center for Applied Genomics
Elizabeth Heron - Division of Mental Health and Addiction
Matthew Hill - Division of Mental Health and Addiction
Richard Holt - The Wellcome Trust Centre for Human Genetics [Oxford]
Jennifer Howe - Program in Genetics and Genomic Biology
Gillian Hughes - Division of Mental Health and Addiction
Roberta Igliozzi - Department of Psychiatry and Behavioral Sciences [Stanford]
Cecilia Kim - The Center for Applied Genomics
Sabine Klauck - Division of Molecular Genome Analysis
Alexander Kolevzon - Human Genetics Center
Olena Korvatska - Department of Medicine
Vlad Kustanovich - Autism Genetic Resource Exchange
Clara Lajonchere - Autism Genetic Resource Exchange
Janine Lamb - Centre for Integrated Genomic Medical Research, Manchester
Magdalena Laskawiec - Department of Psychiatry [Pittsburgh]
Marion Leboyer - Institut Universitaire d'Hématologie
Ann Le Couteur - Child and Adolescent Mental Health
Bennett Leventhal - Nathan Kline Institute for Psychiatric Research
Anath Lionel - Program in Genetics and Genomic Biology
Xiao-Qing Liu - Program in Genetics and Genomic Biology
Catherine Lord - Autism and Communicative Disorders Centre
Linda Lotspeich - Department of Psychiatry and Behavioral Sciences [Stanford]
Sabata Lund - Department of Molecular Physiology & Biophysics and Psychiatry
Elena Maestrini - Department of Pharmacy and Biotechnology
William Mahoney - Department of Pediatrics
Carine Mantoulan - Centre d'Etudes et de Recherches en PsychoPathologie
Christian Marshall - Program in Genetics and Genomic Biology
Helen Mcconachie - Child and Adolescent Mental Health
Christopher Mcdougle - Department of Psychiatry
Jane Mcgrath - Division of Mental Health and Addiction
William Mcmahon - Department of Developmental Neuroscience
Nadine Melhem - Department of Psychiatry [Pittsburgh]
Alison Merikangas - Division of Mental Health and Addiction
Ohsuke Migita - Program in Genetics and Genomic Biology
Nancy Minshew - Departments of Psychiatry and Neurology
Ghazala Mirza - The Wellcome Trust Centre for Human Genetics [Oxford]
Jeff Munson - Department of Psychiatry and Behavioral Sciences
Stanley Nelson - Department of Human Genetics, Los Angeles
Carolyn Noakes - Autism Research Unit
Abdul Noor - Centre for Addiction and Mental Health
Gudrun Nygren - Department of Child and Adolescent Psychiatry
Guiomar Oliveira - Unidade de Neurodesenvolvimento e Autismo
Katerina Papanikolaou - University Department of Child Psychiatry
Jeremy Parr - Institutes of Neuroscience and Health and Society
Barbara Parrini - Department of Psychiatry and Behavioral Sciences [Stanford]
Tara Paton - Program in Genetics and Genomic Biology
Andrew Pickles - Department of Medicine, Manchester
Joseph Piven - Carolina Institute for Developmental Disabilities
David Posey - Department of Psychiatry
Annemarie Poustka - Division of Molecular Genome Analysis
Fritz Poustka - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
Sahlgrenska akademin
Publication Details: Human molecular genetics, Vol.19(20), pp.4072-4082
Date published: 10/15/2010
Publisher: Oxford University Press (OUP)
Academic Unit: Applied Psychology (GSAPP)
Language: English
Resource Type: Journal article
Identifiers: 991031665256404646