HLA-DRB1*14 and DQB1*05 are associated with Japanese anti-MuSK antibody-positive myasthenia gravis patients

Abstract Background Myasthenia gravis (MG) is an autoimmune disorder presumed to be associated with genetic susceptibility. This study aims to determine whether HLA is associated with MG in Japanese patients. Methods We included 58 MG patients with anti-acetylcholine receptor antibody (AChR + MG) and 14 MG patients with muscle-specific receptor tyrosine kinase (MuSK + MG) and determined HLA-A , B , DRB1 and -DQB1 alleles using polymerase chain reaction with sequence-specific oligonucleotide and primers. AChR + MG was classified into the three subgroups: early-onset MG (EOMG; n = 11), late-onset MG (LOMG; n = 20), and thymoma-associated MG (n = 27). Healthy volunteers (n = 100) served as controls. Results A significant positive association was observed between MuSK + MG with the DRB1 * 14 [57.1%, MuSK + MG vs. 18.0%, healthy controls (HC); odds ratio (OR): 6.1] and DQB1 * 05 [78.6%, MuSK + MG vs. 30.0%, HC; odds ratio (OR): 8.5]. We found a negative association between LOMG and DQB1 * 04 [5.0%, LOMG vs. 37.0%, HC; OR: 0.09]. There was no association between other MG subgroups and HLA alleles. Conclusion HLA-DRB1 * 14 and DQB1 * 05 were associated with MuSK + MG, therefore these alleles may play important roles in developing MuSK + MG across the races.