Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.

Learn how you can help with a new
Autism, ADHD, Anxiety & Depression study.

CAR stands united with the Black Lives Matter movement
against racism and social injustice. Read more...

TitleGene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.
Publication TypeJournal Article
Year of Publication2011
AuthorsAnney, RJL, Kenny, EM, O'Dushlaine, C, Yaspan, BL, Parkhomenka, E, Buxbaum, JD, Sutcliffe, J, Gill, M, Gallagher, L, Buxbaum, JD, Sutcliffe, J, Gill, M, Gallagher, L
Corporate AuthorsAutism Genome Project
JournalEur J Hum Genet
Volume19
Issue10
Pagination1082-9
Date Published2011 Oct
ISSN1476-5438
KeywordsAutistic Disorder, Child, Child Development Disorders, Pervasive, Family, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Proteins, Research Design
Abstract

Recent genome-wide association studies (GWAS) have implicated a range of genes from discrete biological pathways in the aetiology of autism. However, despite the strong influence of genetic factors, association studies have yet to identify statistically robust, replicated major effect genes or SNPs. We apply the principle of the SNP ratio test methodology described by O'Dushlaine et al to over 2100 families from the Autism Genome Project (AGP). Using a two-stage design we examine association enrichment in 5955 unique gene-ontology classifications across four groupings based on two phenotypic and two ancestral classifications. Based on estimates from simulation we identify excess of association enrichment across all analyses. We observe enrichment in association for sets of genes involved in diverse biological processes, including pyruvate metabolism, transcription factor activation, cell-signalling and cell-cycle regulation. Both genes and processes that show enrichment have previously been examined in autistic disorders and offer biologically plausibility to these findings.

DOI10.1038/ejhg.2011.75
Alternate JournalEur. J. Hum. Genet.
PubMed ID21522181
PubMed Central IDPMC3190264
Grant ListP50 HD055782 / HD / NICHD NIH HHS / United States
R01 NS049261 / NS / NINDS NIH HHS / United States
MH066673 / MH / NIMH NIH HHS / United States
NS049261 / NS / NINDS NIH HHS / United States
P01 NS026630 / NS / NINDS NIH HHS / United States
MH55284 / MH / NIMH NIH HHS / United States
MH080647 / MH / NIMH NIH HHS / United States
MH061009 / MH / NIMH NIH HHS / United States
HD055782 / HD / NICHD NIH HHS / United States
R01 MH061009 / MH / NIMH NIH HHS / United States
MH081754 / MH / NIMH NIH HHS / United States
U10 MH066766 / MH / NIMH NIH HHS / United States
R01 NS042165 / NS / NINDS NIH HHS / United States
MH66766 / MH / NIMH NIH HHS / United States
MH52708 / MH / NIMH NIH HHS / United States
NS042165 / NS / NINDS NIH HHS / United States
AS7462 / / Autism Speaks / United States
/ / Canadian Institutes of Health Research / Canada
P50 HD055751 / HD / NICHD NIH HHS / United States
P50 HD055784 / HD / NICHD NIH HHS / United States
090532 / / Wellcome Trust / United Kingdom
R01 MH080647 / MH / NIMH NIH HHS / United States
HD055784 / HD / NICHD NIH HHS / United States
R01 MH081754 / MH / NIMH NIH HHS / United States
R01 MH055284 / MH / NIMH NIH HHS / United States
MH06359 / MH / NIMH NIH HHS / United States
075491/Z/04 / / Wellcome Trust / United Kingdom
G0601030 / / Medical Research Council / United Kingdom
NS026630 / NS / NINDS NIH HHS / United States
U54 MH066673 / MH / NIMH NIH HHS / United States
HD055751 / HD / NICHD NIH HHS / United States
Comments
Leave a Comment