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Journal article
Parent-Of-Origin Effects in Autism Identified through Genome-Wide Linkage Analysis of 16,000 SNPs
PloS one, v 5(9)
02 Sep 2010
PMID: 20824079
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Background: Autism is a common heritable neurodevelopmental disorder with complex etiology. Several genome-wide linkage and association scans have been carried out to identify regions harboring genes related to autism or autism spectrum disorders, with mixed results. Given the overlap in autism features with genetic abnormalities known to be associated with imprinting, one possible reason for lack of consistency would be the influence of parent-of-origin effects that may mask the ability to detect linkage and association.
Methods and Findings: We have performed a genome-wide linkage scan that accounts for potential parent-of-origin effects using 16,311 SNPs among families from the Autism Genetic Resource Exchange (AGRE) and the National Institute of Mental Health (NIMH) autism repository. We report parametric (GH, Genehunter) and allele-sharing linkage (Aspex) results using a broad spectrum disorder case definition. Paternal-origin genome-wide statistically significant linkage was observed on chromosomes 4 (LODGH = 3.79, empirical p, 0.005 and LODAspex = 2.96, p = 0.008), 15 (LODGH = 3.09, empirical p, 0.005 and LODAspex = 3.62, empirical p = 0.003) and 20 (LODGH = 3.36, empirical p, 0.005 and LODAspex = 3.38, empirical p = 0.006).
Conclusions: These regions may harbor imprinted sites associated with the development of autism and offer fruitful domains for molecular investigation into the role of epigenetic mechanisms in autism.
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Details
- Title
- Parent-Of-Origin Effects in Autism Identified through Genome-Wide Linkage Analysis of 16,000 SNPs
- Creators
- Delphine Fradin - BloombergKeely Cheslack-Postava - Robert Wood Johnson FoundationChristine Ladd-Acosta - Johns Hopkins MedicineCraig Newschaffer - Drexel UniversityAravinda Chakravarti - Johns Hopkins UniversityDan E. Arking - Johns Hopkins UniversityAndrew Feinberg - Johns Hopkins MedicineM. Daniele Fallin - Bloomberg
- Publication Details
- PloS one, v 5(9)
- Publisher
- Public Library Science
- Number of pages
- 8
- Grant note
- P50HG003233 / NATIONAL HUMAN GENOME RESEARCH INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI) U10DD000183 / CENTERS FOR DISEASE CONTROL AND PREVENTION; United States Department of Health & Human Services; Centers for Disease Control & Prevention - USA P50 HG003233; 2P50HG003233 / NHGRI NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI) U10 DD000183; 5U01DD000183 / NCBDD CDC HHS P01MH039437 / NATIONAL INSTITUTE OF MENTAL HEALTH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Mental Health (NIMH) MH00980; R01 MH064547; MH64547; MH39437; MH52708; MH00219 / NIMH NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Mental Health (NIMH)
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- A.J. Drexel Autism Institute
- Web of Science ID
- WOS:000281480900006
- Scopus ID
- 2-s2.0-77958551200
- Other Identifier
- 991019168660904721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Genetics & Heredity