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Peripheral blood gene expression signature differentiates children with autism from unaffected siblings.


ABSTRACT: Autism spectrum disorder (ASD) is one of the most prevalent neurodevelopmental disorders with high heritability, yet a majority of genetic contribution to pathophysiology is not known. Siblings of individuals with ASD are at increased risk for ASD and autistic traits, but the genetic contribution for simplex families is estimated to be less when compared to multiplex families. To explore the genomic (dis-) similarity between proband and unaffected sibling in simplex families, we used genome-wide gene expression profiles of blood from 20 proband-unaffected sibling pairs and 18 unrelated control individuals. The global gene expression profiles of unaffected siblings were more similar to those from probands as they shared genetic and environmental background. A total of 189 genes were significantly differentially expressed between proband-sib pairs (nominal p

SUBMITTER: Kong SW 

PROVIDER: S-EPMC3686296 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature

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Peripheral blood gene expression signature differentiates children with autism from unaffected siblings.

Kong S W SW   Shimizu-Motohashi Y Y   Campbell M G MG   Lee I H IH   Collins C D CD   Brewster S J SJ   Holm I A IA   Rappaport L L   Kohane I S IS   Kunkel L M LM  

Neurogenetics 20130428 2


Autism spectrum disorder (ASD) is one of the most prevalent neurodevelopmental disorders with high heritability, yet a majority of genetic contribution to pathophysiology is not known. Siblings of individuals with ASD are at increased risk for ASD and autistic traits, but the genetic contribution for simplex families is estimated to be less when compared to multiplex families. To explore the genomic (dis-) similarity between proband and unaffected sibling in simplex families, we used genome-wide  ...[more]

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