%0 Journal Article
%T Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci
%A Lea K Davis
%A Eric R Gamazon
%A Emily Kistner-Griffin
%A Judith A Badner
%A Chunyu Liu
%A Edwin H Cook
%A James S Sutcliffe
%A Nancy J Cox
%J Molecular Autism
%D 2012
%I BioMed Central
%R 10.1186/2040-2392-3-3
%X In this study, we utilized publically available genome-wide association study data from the Autism Genome Project and annotated the results (P <0.001) for expression quantitative trait loci present in the parietal lobe (GSE35977), cerebellum (GSE35974) and lymphoblastoid cell lines (GSE7761). We then performed a test of enrichment by comparing these results to simulated data conditioned on minor allele frequency to generate an empirical P-value indicating statistically significant enrichment of expression quantitative trait loci in top results from the autism genome-wide association study.Our findings show a global enrichment of brain expression quantitative trait loci, but not lymphoblastoid cell line expression quantitative trait loci, among top single nucleotide polymorphisms from an autism genome-wide association study. Additionally, the data implicates individual genes SLC25A12, PANX1 and PANX2 as well as pathways previously implicated in autism.These findings provide supportive rationale for the use of annotation-based approaches to genome-wide association studies.
%K Autism
%K annotation
%K cerebellum
%K enrichment
%K expression quantitative trait (eQTL)
%K GWAS
%K LCL
%K pannexin
%K parietal
%K SLC25A12
%U http://www.molecularautism.com/content/3/1/3/abstract