Affordable Access

deepdyve-link
Publisher Website

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

Authors
  • R, Anney
  • L, Klei
  • D, Pinto
  • R, Regan
  • J, Conroy
  • Tr, Magalhaes
  • C, Correia
  • Bs, Abrahams
  • N, Sykes
  • At, Pagnamenta
  • J, Almeida
  • E, Bacchelli
  • Aj, Bailey
  • G, Baird
  • A, Battaglia
  • T, Berney
  • N, Bolshakova
  • S, Bölte
  • Pf, Bolton
  • T, Bourgeron
  • And 146 more
Type
Published Article
Journal
Human Molecular Genetics
Publisher
Oxford University Press
Volume
19
Issue
20
Pages
4072–4082
Identifiers
DOI: 10.1093/hmg/ddq307
Source
Nelson Lab
License
Unknown

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.

Report this publication

Statistics

Seen <100 times