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

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Title: A genome-wide scan for common alleles affecting risk for autism
Authors: Anney, RichardKlei, LambertusPinto, DalilaRegan, ReginaCasey, JillianSegurado, RicardoShah, NaishaEnnis, Seanet al.
Permanent link: http://hdl.handle.net/10197/4375
Date: 27-Jul-2010
Online since: 2013-06-19T12:04:57Z
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 × 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.
Type of material: Journal Article
Publisher: Oxford University Press
Journal: Human Molecular Genetics
Volume: 19
Issue: 20
Start page: 4072
End page: 4082
Copyright (published version): 2010, the author
Keywords: Autism spectrum disordersGenotypingSNP association
DOI: 10.1093/hmg/ddq307
Language: en
Status of Item: Peer reviewed
This item is made available under a Creative Commons License: https://creativecommons.org/licenses/by-nc-nd/3.0/ie/
Appears in Collections:Public Health, Physiotherapy and Sports Science Research Collection

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