Repository logo
 

A Pooled Genome-Wide Association Study of Asperger Syndrome.


Type

Article

Change log

Authors

Warrier, Varun 
Chakrabarti, Bhismadev 
Murphy, Laura 
Chan, Allen 
Craig, Ian 

Abstract

Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.

Description

Keywords

Asperger Syndrome, Case-Control Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Humans, Male, Polymorphism, Single Nucleotide

Journal Title

PLoS One

Conference Name

Journal ISSN

1932-6203
1932-6203

Volume Title

10

Publisher

Public Library of Science (PLoS)
Sponsorship
This work was funded by grants to SBC from the Nancy Lurie Marks Family Foundation, the Medical Research Council (MRC) UK, Target Autism Genome, and the Autism Research Trust (ART). LM and SEF were supported by the Max Planck Society. VW is funded by St. John’s College, Cambridge and the Cambridge Commonwealth Trust.