RGD Reference Report - Association of HLA-DRB1 alleles and neuropsychological function in autism. - Rat Genome Database

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Association of HLA-DRB1 alleles and neuropsychological function in autism.

Authors: Chien, YL  Wu, YY  Chen, CH  Gau, SS  Huang, YS  Chien, WH  Hu, FC  Chao, YL 
Citation: Chien YL, etal., Psychiatr Genet. 2011 Jun 28.
RGD ID: 5147556
Pubmed: PMID:21716163   (View Abstract at PubMed)
DOI: DOI:10.1097/YPG.0b013e32834915ae   (Journal Full-text)

Evidence suggests an association between autism and immune dysfunction. The associations between human lymphocyte antigen (HLA)-A2, B44, DRbeta1*04 (DR4), C4B, and haplotype B44-SC30-DR4 and autism have been reported in western countries but there is a lack of such information in Asian population. This study aimed to assess the association between HLA-DRB1 allele frequencies and the clinical phenomenology of autism. The sample included 141 participants (male, 87.2%), who were diagnosed with autistic disorder based on clinical assessments and structured interviews using the Chinese version of the Autism Diagnostic Interview-Revised, and 156 healthy controls (male, 38.6%). The HLA-DRB1 alleles were determined by sequencing-based typing method. A subsample of patients (n=39) were assessed for intelligence and neuropsychological functions. The results showed that the pattern of DRB1 allele frequencies was significantly different between patients with autism and the controls (P=0.047). After adjusting for sex by haplotype regression, the frequencies of DR4, DR11, and DR14 were significantly different between patients with autism and healthy controls. In addition, patients with autism and DR4, DR11, or DR14 had different performance on intelligence and neuropsychology tests. Despite a relatively small sample size and a case-control association design, the findings suggest HLA-DRB1 gene might be associated with autism in Han Chinese. The true functional variants associated with autism in our samples remain to be further clarified. It warrants a replication study of a larger family sample and to validate the HLA genetic association with autism and its influence on neuropsychological function. (ClinicalTrials.gov ID: NCT00494754).



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
H2-Eb1Mouseautistic disorder  ISOHLA-DRB1 (Homo sapiens)DNA:polymorphisms (human)RGD 
HLA-DRB1Humanautistic disorder  IAGP DNA:polymorphisms (human)RGD 
RT1-Db1Ratautistic disorder  ISOHLA-DRB1 (Homo sapiens)DNA:polymorphisms (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
RT1-Db1  (RT1 class II, locus Db1)

Genes (Mus musculus)
H2-Eb1  (histocompatibility 2, class II antigen E beta)

Genes (Homo sapiens)
HLA-DRB1  (major histocompatibility complex, class II, DR beta 1)


Additional Information