High frequency of DQB 105 and absolute absence of DRB 113 in muscle‐specific tyrosine kinase positive myasthenia gravis

• Published in: European journal of neurology Vol. 22; no. 1; pp. 59 - 63
• Main Authors: Nikolic, A. V., Andric, Z. P., Simonovic, R. B., Rakocevic Stojanovic, V. M., Basta, I. Z., Bojic, S. D., Lavrnic, D. V.
• Format: Journal Article
• Language: English
• Published: 01-01-2015
• ISSN: 1351-5101; 1468-1331
• DOI: 10.1111/ene.12525

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 (Mu
SK
)
MG
.
Methods
Human leukocyte antigen (
HLA
) typing was performed in our cohort of 31 Mu
SK MG
patients available for the study. The allele groups of
DRB
1* and
DQB
1* loci were typed with sequence‐specific oligonucleotide probes and high resolution typing for
DQB
1* was performed using sequence‐specific primers.
HLA
frequencies were compared with unrelated healthy bone marrow donors.
Results
Significant association of Mu
SK MG
with alleles
DRB
1*14 [odds ratio (
OR
) 3.8],
DRB
1*16 (
OR
3.3) (
P
 < 0.01) and
DQB
1*05 (
OR
2.2) (
P
 < 0.05) was found. In our patients the most frequent
DQB
1* allele was
DQB
1*05:02. An absolute absence of
DRB
1*13 in our cohort of Mu
SK MG
patients was also found, whilst this allele was present in 25% (495/1992) of control subjects (
OR
0) (
P
 < 0.01). The
HLA DRB
1*16−
DQB
1*05 (
OR
2.9) haplotype was found to be associated with Mu
SK MG
(
P
 < 0.05).
Conclusions
The strong association of Mu
SK MG
with
DQB
1*05 alleles observed in patient series from other countries was confirmed. The novel finding in our cohort of Mu
SK MG
patients was the absolute absence of
DRB
1*13 allele, which might have a protective role in the development of Mu
SK MG
, at least in our population.