Structural, genetic, and functional signatures of disordered neuro-immunological development in autism spectrum disorder

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...

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Bibliographic Details
Published in:PloS one 2012-12, Vol.7 (12), p.e48835-e48835
Main Authors: Saxena, Vishal, Ramdas, Shweta, Ochoa, Courtney Rothrock, Wallace, David, Bhide, Pradeep, Kohane, Isaac
Format: Article
Language:English
Subjects:
Analysis
Arthritis
Autism
Biology
Child
Child Development Disorders, Pervasive - genetics
Children & youth
Chromosomes
Copy number
Cytokines
Developmental Disabilities - genetics
DNA Copy Number Variations - genetics
Endocrinology
Etiology
Gene expression
Genetic aspects
Genetic Linkage
Genetic Predisposition to Disease
Genetic research
Genome-Wide Association Study
Genomes
Genomics
Growth factors
Hospitals
Humans
Immunology
Ligands
Loci
Mechanical engineering
Medical research
Medicine
Metabolic Networks and Pathways - genetics
Neurology
Polymorphism, Single Nucleotide
Recombination
Structure-function relationships
Studies
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Summary: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. 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. Consistently across both genome-scale measurements, the same two molecular themes emerged: immune/chemokine pathways and developmental pathways. 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).
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0048835