Association of HLA-DRB1 alleles and neuropsychological function in autism
Journal
Psychiatric Genetics
Journal Volume
22
Journal Issue
1
Pages
46-49
Date Issued
2012
Author(s)
Abstract
Evidence suggests an association between autism and immune dysfunction. The associations between human lymphocyte antigen (HLA)-A2, B44, DRβ1*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). ? 2012 Wolters Kluwer Health | Lippincott Williams & Wilkins.
SDGs
Other Subjects
HLA DR antigen; HLA DR11 antigen; HLA DR4 antigen; adolescent; adult; allele; article; autism; child; Chinese; controlled study; female; gene; gene frequency; genetic analysis; genetic association; haplotype; HLA DRB1 gene; human; intelligence; major clinical study; male; neuropsychology; preschool child; priority journal; regression analysis; school child; Adolescent; Alleles; Autistic Disorder; Case-Control Studies; Child; Child, Preschool; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genotyping Techniques; HLA-DRB1 Chains; Humans; Logistic Models; Male; Neuropsychological Tests; Young Adult
Type
journal article