A variant of childhood-onset myasthenia gravis: HLA typing and clinical characteristics in Japan.
To investigate the correlation between clinical features and HLA DR/DQ genetic variability in myasthenia gravis (MG), we evaluated HLA DR/DQ allele frequencies in 87 Japanese patients with childhood-onset disease. HLA genotypes DRB1*1302/DQA1*0102/DQB1*0604 and DRB1*0901/DQA1*0301/DQB1*0303 were significantly higher in patients than in healthy controls (P(c) < 0.0001, RR = 5.5; P(c) < 0.0001, RR = 8.5, for two genotypes, respectively). Patients who had a significantly higher likelihood of the HLA types DRB1*1302/DQA1*0102/DQB1*0604 or DRB1*0901/DQA1*0301/DQB1*0303 belonged to the latent general type (LG) of MG; this is clinically ocular type, but shows myasthenic electromyographic findings in extremity muscles. The LG type of MG was observed in 78% of patients exhibiting the clinically ocular type; this group comprised approximately 75% of patients with childhood-onset MG. These date suggest that LG type of MG may present a particular subset of childhood-onset MG, which is associated with the specific HLA subtypes DRB1*1302/DQA1*0102/DQB1*0604 and DRB1*0901/DQA1*0301/DQB1*0303.
Second Department of Pediatrics, Ohashi Hospital, Toho University School of Medicine, Meguro, Tokyo, Japan. noriaki@med.toho-u.ac.jp
Noriaki
N
Shinomiya
Yoshiko
Y
Nomura
Masaya
M
Segawa
D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004576:Electromyography; D005260:Female; D005787:Gene Frequency; D005802:Genes, MHC Class II / Q000276:immunology; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000276:immunology; D006683:HLA-DQ Antigens / Q000235:genetics / Q000276:immunology*; D006684:HLA-DR Antigens / Q000235:genetics / Q000276:immunology*; D006650:Histocompatibility Testing; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D009157:Myasthenia Gravis / Q000276:immunology* / Q000473:pathology; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D011950:Receptors, Cholinergic / Q000276:immunology
D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens; D011950:Receptors, Cholinergic; D004247:DNA