Journal Article


Louise Gallagher
Katherine Tansey
Sean Ennis
Elizabeth Ann Heron
Michael Gill
Naisha Shah
Jillian Casey
Nadezda Bolshakova
Jane Mc Grath
Alison Kathleen Merikangas
and 7 others



kiaa0564 snp association snp genotypes autism spectrum disorders autism neuroscience open access genome wide association genotyping alleles pld5 pou6f2 st8sia2 and taf1c genetics genome wide scan single nucleotide polymorphisms genome wide association studies genes society

A genomewide scan for common alleles affecting risk for autism. (2010)

Abstract 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 3 1028. 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 3 1028 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. This research was primarily supported by Autism Speaks (USA), the Health Research Board (HRB, Ireland), The Medical Research Council (MRC; UK); Genome Canada/ Ontario Genomics Institute and the Hilibrand Foundation (USA). Additional support for individual groups was provided by the US National Institutes of Health [HD055751, HD055782, HD055784, HD35465, MH52708, MH55284,MH057881, MH061009, MH06359, MH066673, MH077930, MH080647, MH081754, MH66766, NS026630, NS042165, NS049261]; the Canadian Institutes for Health Research (CIHR), Assistance Publique - Ho?pitaux de Paris (France), Autistica, Canada Foundation for Innovation/Ontario Innovation Trust, Deutsche Forschungsgemeinschaft (grant: Po 255/17-4) (Germany), EC Sixth FP AUTISM MOLGEN, Fundac ?a?o Calouste Gulbenkian (Portugal), Fondation de France, Fondation FondaMental (France), Fondation Orange (France), Fondation pour la Recherche Me'dicale (France), Fundac?a?o para a Cie?ncia e Tecnologia (Portugal), GlaxoSmithKline-CIHR Pathfinder Chair (Canada), the Hospital for Sick Children Foundation and University of Toronto (Canada), INSERM (France), Institut Pasteur (France), the Italian Ministry of Health [convention 181 of 19.10.2001], the John P. Hussman Foundation (USA), McLaughlin Centre (Canada), Netherlands Organization for Scientific Research [Rubicon 825.06.031], Ontario Ministry of Research and Innovation (Canada), Royal Netherlands Academy of Arts and Sciences [TMF/DA/5801], the Seaver Foundation (USA), the Swedish Science Council, The Centre for Applied Genomics (Canada), the Utah Autism Foundation (USA) and the Wellcome Trust core award [075491/Z/04 UK]. We wish to acknowledge SAGE as part of this study. Funding support for the Study of Addiction: Genetics and Environment (SAGE) was provided through the NIH Genes, Environment and Health Initiative [GEI] (U01 HG004422). SAGE is one of the genome-wide association studies funded as part of the Gene Environment Association Studies (GENEVA) under GEI. Assistance with phenotype harmonization and genotype cleaning, as well as with general study coordination, was provided by the GENEVA Coordinating Center (U01 HG004446). Assistance with data cleaning was provided by the National Center for Biotechnology Information. Support for collection of datasets and samples was provided by the Collaborative Study on the Genetics of Alcoholism (COGA; U10 AA008401), the Collaborative Genetic Study of Nicotine Dependence (COGEND; P01 CA089392), and the Family Study of Cocaine Dependence (FSCD; R01 DA013423). Funding support for genotyping, which was performed at the Johns Hopkins University Center for Inherited Disease Research, was provided by the NIH GEI (U01 HG004438), the National Institute on Alcohol Abuse and Alcoholism, the National Institute on Drug Abuse, and the NIH contract `High throughput genotyping for studying the genetic contributions to human disease? (HHSN268200782096C). Funding to pay the Open Access Charge was provided by Autism Speaks
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Full list of authors on original publication

Louise Gallagher, Katherine Tansey, Sean Ennis, Elizabeth Ann Heron, Michael Gill, Naisha Shah, Jillian Casey, Nadezda Bolshakova, Jane Mc Grath, Alison Kathleen Merikangas and 7 others

Experts in our system

Louise Gallagher
Trinity College Dublin
Total Publications: 59
Sean Ennis
University College Dublin
Total Publications: 52
Elizabeth Heron
Trinity College Dublin
Total Publications: 15
Michael Gill
Trinity College Dublin
Total Publications: 273
Naisha Shah
University College Dublin
Total Publications: 7
Jillian Casey
University College Dublin
Total Publications: 24