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Association of HLA-DRB1 alleles and neuropsychological function in autism

Chien, Yi-Linga,b; Wu, Yu-Yuc; Chen, Chia-Hsiangd,e; Gau, Susan Shur-Fena,f; Huang, Yu-Shuc; Chien, Wei-Hsieng; Hu, Fu-Changh; Chao, Yu-Lind,i

doi: 10.1097/YPG.0b013e32834915ae
Brief Reports

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. ( ID: NCT00494754).

aDepartment of Psychiatry, National Taiwan University Hospital

bDepartment of Psychiatry, National Taiwan University Hospital Yunlin Branch, Douliou

cDepartment of Psychiatry, Chang-Gung Memorial Hospital, Kewishan

dInstitute of Medical Sciences, Tzu-Chi University, Hualien

eDivision of Mental Health and Addiction Medicine, Institute of Population Health Sciences, National Health Research Institutes, Zhunan

fDepartment of Psychiatry, College of Medicine, National Taiwan University, Taipei

gDepartment of Occupational Therapy, College of Medicine, Fu Jen Catholic University, Taipei

hDepartment of Medical Research and National Center of Excellence for General Clinical Trial and Research, National Taiwan University Hospital

iDepartment of Psychiatry, Buddhist Tzu-Chi General Hospital, Taipei, Taiwan

Correspondence to Dr Susan Shur-Fen Gau, MD, PhD, Department of Psychiatry, National Taiwan University Hospital and College of Medicine, No. 7, Chung-Shan South Road, Taipei 10002, Taiwan Tel: +886 2 2312 3456 ×66802; fax: +886 2 2381 2408; e-mail:

Received January 16, 2010

Accepted May 5, 2011

© 2012 Lippincott Williams & Wilkins, Inc.