Document Detail

Identification of autoimmune gene signatures in autism.
MedLine Citation:
PMID:  22832355     Owner:  NLM     Status:  MEDLINE    
The role of the immune system in neuropsychiatric diseases, including autism spectrum disorder (ASD), has long been hypothesized. This hypothesis has mainly been supported by family cohort studies and the immunological abnormalities found in ASD patients, but had limited findings in genetic association testing. Two cross-disorder genetic association tests were performed on the genome-wide data sets of ASD and six autoimmune disorders. In the polygenic score test, we examined whether ASD risk alleles with low effect sizes work collectively in specific autoimmune disorders and show significant association statistics. In the genetic variation score test, we tested whether allele-specific associations between ASD and autoimmune disorders can be found using nominally significant single-nucleotide polymorphisms. In both tests, we found that ASD is probabilistically linked to ankylosing spondylitis (AS) and multiple sclerosis (MS). Association coefficients showed that ASD and AS were positively associated, meaning that autism susceptibility alleles may have a similar collective effect in AS. The association coefficients were negative between ASD and MS. Significant associations between ASD and two autoimmune disorders were identified. This genetic association supports the idea that specific immunological abnormalities may underlie the etiology of autism, at least in a number of cases.
J-Y Jung; I S Kohane; D P Wall
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural     Date:  2011-12-13
Journal Detail:
Title:  Translational psychiatry     Volume:  1     ISSN:  2158-3188     ISO Abbreviation:  Transl Psychiatry     Publication Date:  2011  
Date Detail:
Created Date:  2012-07-26     Completed Date:  2013-04-04     Revised Date:  2014-03-19    
Medline Journal Info:
Nlm Unique ID:  101562664     Medline TA:  Transl Psychiatry     Country:  United States    
Other Details:
Languages:  eng     Pagination:  e63     Citation Subset:  IM    
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MeSH Terms
Autoimmune Diseases / genetics*,  immunology
Child Development Disorders, Pervasive / genetics*,  immunology
Cohort Studies
Genetic Variation / genetics*,  immunology
Genome-Wide Association Study
Multifactorial Inheritance / genetics*,  immunology
Polymorphism, Single Nucleotide / genetics,  immunology
Grant Support
1R01MH090611-01A1/MH/NIMH NIH HHS; R01 MH090611/MH/NIMH NIH HHS

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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