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http://purl.uniprot.org/citations/25070808http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/25070808http://www.w3.org/2000/01/rdf-schema#comment"

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."xsd:string
http://purl.uniprot.org/citations/25070808http://purl.org/dc/terms/identifier"doi:10.1111/ene.12525"xsd:string
http://purl.uniprot.org/citations/25070808http://purl.uniprot.org/core/author"Andric Z.P."xsd:string
http://purl.uniprot.org/citations/25070808http://purl.uniprot.org/core/author"Basta I.Z."xsd:string
http://purl.uniprot.org/citations/25070808http://purl.uniprot.org/core/author"Bojic S.D."xsd:string
http://purl.uniprot.org/citations/25070808http://purl.uniprot.org/core/author"Lavrnic D.V."xsd:string
http://purl.uniprot.org/citations/25070808http://purl.uniprot.org/core/author"Nikolic A.V."xsd:string
http://purl.uniprot.org/citations/25070808http://purl.uniprot.org/core/author"Rakocevic Stojanovic V.M."xsd:string
http://purl.uniprot.org/citations/25070808http://purl.uniprot.org/core/author"Simonovic R.B."xsd:string
http://purl.uniprot.org/citations/25070808http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/25070808http://purl.uniprot.org/core/name"Eur J Neurol"xsd:string
http://purl.uniprot.org/citations/25070808http://purl.uniprot.org/core/pages"59-63"xsd:string
http://purl.uniprot.org/citations/25070808http://purl.uniprot.org/core/title"High frequency of DQB1*05 and absolute absence of DRB1*13 in muscle-specific tyrosine kinase positive myasthenia gravis."xsd:string
http://purl.uniprot.org/citations/25070808http://purl.uniprot.org/core/volume"22"xsd:string
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