title: Structural, genetic, and functional signatures of disordered neuro-immunological development in autism spectrum disorder.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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).
authors.affiliation: Department of Neurology, Massachusetts General Hospital, Charlestown, Massachusetts, United States of America. vishal@mit.edu
authors.forename: Vishal
authors.initials: V
authors.lastname: Saxena
authors.forename: Shweta
authors.initials: S
authors.lastname: Ramdas
authors.forename: Courtney Rothrock
authors.initials: CR
authors.lastname: Ochoa
authors.forename: David
authors.initials: D
authors.lastname: Wallace
authors.forename: Pradeep
authors.initials: P
authors.lastname: Bhide
authors.forename: Isaac
authors.initials: I
authors.lastname: Kohane
mesh_terms: D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D053858:Metabolic Networks and Pathways / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide