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The HLA-B*4601-DRB1*0901 haplotype is positively correlated with juvenile ocular myasthenia gravis in a southern Chinese Han population.

Abstract
Myasthenia gravis (MG) is a sporadic disorder that has been increasingly linked to inherited genetic factors. Previous studies have demonstrated that human leukocyte antigen (HLA) plays an important role in the pathogenesis of MG. We determined the genotypes of the HLA-A, B, and DRB1 alleles in 257 southern Chinese Han MG patients using polymerase chain reaction sequence-based typing (PCR-SBT). The allele frequencies in the MG patients were compared to 292 healthy controls using the case-control method. HLA-A*0207, HLA-B*4601, HLA-DRB1*0403, HLA-DRB1*0901, and HLA-DRB1*1602 were more frequent in juvenile ocular MG patients than controls. HLA-DRB1*0701 was significantly reduced in the juvenile ocular MG group compared with controls. HLA-A*0207-B*4601, HLA-B*4601-DRB1*0403, HLA-B*4601-DRB1*0901, and HLA-B*4601-DRB1*1602 were found to be in strong linkage disequilibrium in juvenile ocular MG patients. Within the MG patients, there was a strong positive association between HLA-B*4601-DRB1*0901 and juvenile ocular MG patients, and the value of odds ratios (OR) decreased as the disease became more severe and the age of onset increased. We believe this could be the main heredity phenotype in juvenile ocular MG patients from southern China and may be a clinical marker to predict the severity of the disease.
AuthorsHui-Yu Feng, Li-Xuan Yang, Wei-Bin Liu, Xin Huang, Li Qiu, Yan Li
JournalNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (Neurol Sci) Vol. 36 Issue 7 Pg. 1135-40 (Jul 2015) ISSN: 1590-3478 [Electronic] Italy
PMID25953150 (Publication Type: Journal Article)
Chemical References
  • HLA-B Antigens
  • HLA-B*46:01 antigen
  • HLA-DRB1 Chains
Topics
  • Adult
  • Age of Onset
  • Asian People (ethnology, genetics)
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease (genetics)
  • Genotype
  • HLA-B Antigens (genetics)
  • HLA-DRB1 Chains (genetics)
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Myasthenia Gravis (epidemiology, ethnology, genetics)
  • Severity of Illness Index
  • Young Adult

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