Structural, Genetic, and Functional Signatures of Disordered Neuro-Immunological Development in Autism Spectrum Disorder
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Saxena-2012-Structural, Genetic.pdf
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Author(s)
Saxena, Vishal
Ramdas, Shweta
Ochoa, Courtney Rothrock
Wallace, David Robert
Bhide, Pradeep
Kohane, Isaac
Date Issued
December 2012
Journal
PLoS ONE
Publisher
Public Library of Science
Citation
Saxena, Vishal et al. “Structural, Genetic, and Functional Signatures of Disordered Neuro-Immunological Development in Autism Spectrum Disorder.” Ed. Vladimir N. Uversky. PLoS ONE 7.12 (2012).
Version
Final published version
Abstract
Background: Numerous linkage studies have been performed in pedigrees of Autism Spectrum Disorders, and these studies point to diverse loci and etiologies of autism in different pedigrees. The underlying pattern may be identified by an integrative approach, especially since ASD is a complex disorder manifested through many loci.
Method: Autism spectrum disorder (ASD) was studied through two different and independent genome-scale measurement modalities. We analyzed the results of copy number variation in autism and triangulated these with linkage studies.
Results: Consistently across both genome-scale measurements, the same two molecular themes emerged: immune/chemokine pathways and developmental pathways.
Conclusion: Linkage studies in aggregate do indeed share a thematic consistency, one which structural analyses recapitulate with high significance. These results also show for the first time that genomic profiling of pathways using a recombination distance metric can capture pathways that are consistent with those obtained from copy number variations (CNV).
MIT Department
Massachusetts Institute of Technology. Department of Mechanical Engineering
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DOI of Published Version
https://doi.org/10.1371/journal.pone.0048835
