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

Publication ,  Journal Article
Anney, RJL; Kenny, EM; O'Dushlaine, C; Yaspan, BL; Parkhomenka, E; Buxbaum, JD; Sutcliffe, J; Gill, M; Gallagher, L; Autism Genome Project,
Published in: Eur J Hum Genet
October 2011

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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Published In

Eur J Hum Genet

DOI

EISSN

1476-5438

Publication Date

October 2011

Volume

19

Issue

10

Start / End Page

1082 / 1089

Location

England

Related Subject Headings

  • Research Design
  • Proteins
  • Polymorphism, Single Nucleotide
  • Humans
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Family
  • Child Development Disorders, Pervasive
  • Child
 

Citation

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Anney, R. J. L., Kenny, E. M., O’Dushlaine, C., Yaspan, B. L., Parkhomenka, E., Buxbaum, J. D., … Autism Genome Project, . (2011). Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. Eur J Hum Genet, 19(10), 1082–1089. https://doi.org/10.1038/ejhg.2011.75
Anney, Richard J. L., Elaine M. Kenny, Colm O’Dushlaine, Brian L. Yaspan, Elena Parkhomenka, Joseph D. Buxbaum, James Sutcliffe, Michael Gill, Louise Gallagher, and Louise Autism Genome Project. “Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.Eur J Hum Genet 19, no. 10 (October 2011): 1082–89. https://doi.org/10.1038/ejhg.2011.75.
Anney RJL, Kenny EM, O’Dushlaine C, Yaspan BL, Parkhomenka E, Buxbaum JD, et al. Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. Eur J Hum Genet. 2011 Oct;19(10):1082–9.
Anney, Richard J. L., et al. “Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.Eur J Hum Genet, vol. 19, no. 10, Oct. 2011, pp. 1082–89. Pubmed, doi:10.1038/ejhg.2011.75.
Anney RJL, Kenny EM, O’Dushlaine C, Yaspan BL, Parkhomenka E, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L, Autism Genome Project. Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. Eur J Hum Genet. 2011 Oct;19(10):1082–1089.

Published In

Eur J Hum Genet

DOI

EISSN

1476-5438

Publication Date

October 2011

Volume

19

Issue

10

Start / End Page

1082 / 1089

Location

England

Related Subject Headings

  • Research Design
  • Proteins
  • Polymorphism, Single Nucleotide
  • Humans
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Family
  • Child Development Disorders, Pervasive
  • Child