Parent-of-origin effects in autism identified through genome-wide linkage analysis of 16,000 SNPs

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 ge...

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Veröffentlicht in:PloS one 2010-09, Vol.5 (9), p.e12513
Hauptverfasser: Fradin, Delphine, Cheslack-Postava, Keely, Ladd-Acosta, Christine, Newschaffer, Craig, Chakravarti, Aravinda, Arking, Dan E, Feinberg, Andrew, Fallin, M Daniele
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Sprache:eng
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Zusammenfassung: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. 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 (LOD(GH) = 3.79, empirical p
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0012513