HLA-DRB1*14 and DQB1*05 are associated with Japanese anti-MuSK antibody-positive myasthenia gravis patients
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Tetsuya Kanai1, Akiyuki Uzawa1, Naoki Kawaguchi2
1Department of Neurology, Graduate School of Medicine, Chiba University, Japan.
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.
Insights
Human leukocyte antigen (HLA) alleles DRB1*14 and DQB1*05 are significantly associated with muscle-specific receptor tyrosine kinase (MuSK) positive myasthenia gravis (MG). These findings suggest a role for these HLA types in the development of MuSK+MG.
Area of Science:
- Immunogenetics
- Neurology
- Autoimmune Diseases
Background:
- Myasthenia gravis (MG) is an autoimmune disorder with suspected genetic links.
- Investigating human leukocyte antigen (HLA) associations is crucial for understanding MG pathogenesis.
Purpose of the Study:
- To determine the association between specific HLA alleles and myasthenia gravis in a Japanese population.
- To explore potential genetic predispositions in different subtypes of MG.
Main Methods:
- Genotyping of HLA-A, B, DRB1, and DQB1 alleles in 72 MG patients (58 AChR+MG, 14 MuSK+MG) and 100 healthy controls.
- Utilized polymerase chain reaction with sequence-specific oligonucleotide and primers for allele determination.
- Classified AChR+MG into early-onset, late-onset, and thymoma-associated subgroups.
Main Results:
- Significant positive association found between MuSK+MG and HLA-DRB1*14 (OR: 6.1) and HLA-DQB1*05 (OR: 8.5).
- A negative association was observed between late-onset MG (LOMG) and HLA-DQB1*04 (OR: 0.09).
- No significant associations were identified for other MG subgroups with the tested HLA alleles.
Conclusions:
- HLA-DRB1*14 and DQB1*05 alleles are strongly associated with MuSK+MG.
- These specific HLA alleles may play a critical role in the development of MuSK+MG, potentially across diverse ethnic groups.
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