PMID- 25070808
OWN - NLM
STAT- MEDLINE
DCOM- 20150611
LR  - 20151113
IS  - 1468-1331 (Electronic)
IS  - 1351-5101 (Linking)
VI  - 22
IP  - 1
DP  - 2015 Jan
TI  - High frequency of DQB1*05 and absolute absence of DRB1*13 in muscle-specific 
      tyrosine kinase positive myasthenia gravis.
PG  - 59-63
LID - 10.1111/ene.12525 [doi]
AB  - 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.
CI  - (c) 2014 EAN.
FAU - Nikolic, A V
AU  - Nikolic AV
AD  - Neurology Clinic, Department for Neuromuscular Disorders, Clinical Center of 
      Serbia, Belgrade, Serbia; Medical Faculty, University of Belgrade, Belgrade, 
      Serbia.
FAU - Andric, Z P
AU  - Andric ZP
FAU - Simonovic, R B
AU  - Simonovic RB
FAU - Rakocevic Stojanovic, V M
AU  - Rakocevic Stojanovic VM
FAU - Basta, I Z
AU  - Basta IZ
FAU - Bojic, S D
AU  - Bojic SD
FAU - Lavrnic, D V
AU  - Lavrnic DV
LA  - eng
PT  - Journal Article
DEP - 20140729
PL  - England
TA  - Eur J Neurol
JT  - European journal of neurology
JID - 9506311
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (HLA-DRB1 Chains)
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 0 (Receptors, Cholinergic)
RN  - EC 2.7.10.1 (MUSK protein, human)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Cohort Studies
MH  - Female
MH  - Gene Frequency
MH  - HLA-DQ beta-Chains/*genetics
MH  - HLA-DRB1 Chains/*genetics
MH  - Histocompatibility Antigens Class I/genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Myasthenia Gravis/*genetics/immunology
MH  - Receptor Protein-Tyrosine Kinases/*immunology
MH  - Receptors, Cholinergic/*immunology
MH  - Serbia
MH  - Young Adult
OTO - NOTNLM
OT  - human leukocyte antigens
OT  - muscle-specific tyrosine kinase
OT  - myasthenia gravis
EDAT- 2014/07/30 06:00
MHDA- 2015/06/13 06:00
CRDT- 2014/07/30 06:00
PHST- 2013/09/12 00:00 [received]
PHST- 2014/06/09 00:00 [accepted]
PHST- 2014/07/30 06:00 [entrez]
PHST- 2014/07/30 06:00 [pubmed]
PHST- 2015/06/13 06:00 [medline]
AID - 10.1111/ene.12525 [doi]
PST - ppublish
SO  - Eur J Neurol. 2015 Jan;22(1):59-63. doi: 10.1111/ene.12525. Epub 2014 Jul 29.