Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders
Open accessAbstract
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.
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Gene-set enrichment and related analyses for AGP and other ASD data sets have found significant evidence for common variants affecting risk.
“gene-set enrichment and related analyses for AGP and other ASD data sets have found significant evidence for common variants affecting risk (54–57)”
From Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) · cites this paper as [54]
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- Authors
- The Autism Genome Project, Anney, R. J. L., Kenny, E. M., O'Dushlaine, C., Yaspan, B. L., Parkhomenka, E., Buxbaum, J. D., Sutcliffe, J., Gill, M., Gallagher, L., Buxbaum, J. D., Sutcliffe, J., Gill, M., & Gallagher, L.
- Affiliations
- Trinity College Dublin (IE)
- Broad Institute (US)
- Vanderbilt University (US)
- Icahn School of Medicine at Mount Sinai (US)
- Corresponding author
- Anney, Richard J L
- Venue
- European Journal of Human Genetics
- Published
- 2011-04-27
- Volume
- 19
- Issue
- 10
- Pages
- 1082-1089
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- PMC
- PMC3190264
- OpenAlex
- W1507813580
- Cited by
- 43
- References
- 31
- Citations by year
- 2026: 1 · 2024: 2 · 2023: 1 · 2022: 5 · 2021: 2 · 2020: 1 · 2018: 2 · 2017: 2 · 2016: 3 · 2015: 1 · 2014: 3 · 2013: 9 · 2012: 10
- FWCI
- 3.69
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- Arrow@dit (Dublin Institute of Technology) (acceptedVersion)
- Rutgers University Community Repository (Rutgers University) (submittedVersion)
- HAL (submittedVersion, other-oa)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (submittedVersion)
- Trinity's Access to Research Output (TARA) (Trinity College Dublin) (submittedVersion)
- Lenus, The Irish Health Repository (Dr Steevens Hospital Library) (submittedVersion)
- Trinity's Access to Research Output (TARA) (Trinity College Dublin) (submittedVersion, cc-by-nc-sa)
- Funders
- Autism Speaks (AS7462)
- GlaxoSmithKline
- Ontario Innovation Trust
- Genome Canada
- Wellcome Trust (075491/Z/04/Z, 075491/Z/04,, 090532)
- Health Research Board
- Ontario Genomics
- Hussman Foundation
- Fondation FondaMental
- Fondation Orange
- Ontario Genomics Institute
- Sick Kids Foundation
- National Institute for Health and Care Research (NF-SI-0510-10268)
- Deutsche Forschungsgemeinschaft
- Institut National de la Santé et de la Recherche Médicale
- Koninklijke Nederlandse Akademie van Wetenschappen
- Ministero della Salute
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (825.06.031)
- University of Toronto
- Fondation de France
- Hospital for Sick Children
- National Institutes of Health (075491/Z/04, HD055751)
- Canadian Institutes of Health Research
- Medical Research Council
- Ontario Ministry of Research and Innovation
- National Institute of Mental Health (MH-066673, R01MH061009, MH66766, R01MH052708, U54MH066673, MH06359, R01MH080647, U10MH066766, MH 55284, MH081754, R01MH081754, MH52708, MH080647, MH061009, R01MH055284)
- National Institute of Neurological Disorders and Stroke (NS026630, NS049261, P01NS026630, R01NS049261, R01NS042165, NS-042165)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD055751, P50HD055782, HD055784, HD055751, P50HD055784, HD055782)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, gene ontology enrichment, family-based association, pyruvate metabolism, transcription factor activation, signal transduction, cell cycle regulation, genetic aetiology
- MeSH terms
- Autistic Disorder, Child, Child Development Disorders, Pervasive, Family, Humans, Proteins, Research Design, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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