1. High frequency of DQB1*05 and absolute absence of DRB1*13 in muscle-specific tyrosine kinase positive myasthenia gravis.
- Author
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Nikolic AV, Andric ZP, Simonovic RB, Rakocevic Stojanovic VM, Basta IZ, Bojic SD, and Lavrnic DV
- Subjects
- Adult, Aged, Cohort Studies, Female, Gene Frequency, Histocompatibility Antigens Class I genetics, Humans, Male, Middle Aged, Myasthenia Gravis immunology, Serbia, Young Adult, HLA-DQ beta-Chains genetics, HLA-DRB1 Chains genetics, Myasthenia Gravis genetics, Receptor Protein-Tyrosine Kinases immunology, Receptors, Cholinergic immunology
- Abstract
Background and Purpose: Myasthenia gravis (MG) is an autoimmune disease but certain genetic factors predispose its development. Since susceptibility to different forms of MG is linked to a number of allelic variants, the aim of this study was to explore the human leukocyte antigen (HLA) profile of our patients with muscle-specific tyrosine kinase (MuSK) MG., Methods: Human leukocyte antigen (HLA) typing was performed in our cohort of 31 MuSK MG patients available for the study. The allele groups of DRB1* and DQB1* loci were typed with sequence-specific oligonucleotide probes and high resolution typing for DQB1* was performed using sequence-specific primers. HLA frequencies were compared with unrelated healthy bone marrow donors., Results: Significant association of MuSK MG with alleles DRB1*14 [odds ratio (OR) 3.8], DRB1*16 (OR 3.3) (P < 0.01) and DQB1*05 (OR 2.2) (P < 0.05) was found. In our patients the most frequent DQB1* allele was DQB1*05:02. An absolute absence of DRB1*13 in our cohort of MuSK MG patients was also found, whilst this allele was present in 25% (495/1992) of control subjects (OR 0) (P < 0.01). The HLA DRB1*16-DQB1*05 (OR 2.9) haplotype was found to be associated with MuSK MG (P < 0.05)., Conclusions: The strong association of MuSK MG with DQB1*05 alleles observed in patient series from other countries was confirmed. The novel finding in our cohort of MuSK MG patients was the absolute absence of DRB1*13 allele, which might have a protective role in the development of MuSK MG, at least in our population., (© 2014 EAN.)
- Published
- 2015
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