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A7.7 Different Genetic Background of Dermatomyositis and Polymyositis in a Single Centre Cohort

Authors :
Jiri Vencovsky
Heřman Mann
L. Pleštilová
O Krystukova
Marek Skoda
Tana Svitalkova
P. Novota
Zoe E Betteridge
M Faustova
M. Remakova
Source :
Annals of the Rheumatic Diseases. 72:A50.2-A50
Publication Year :
2013
Publisher :
BMJ, 2013.

Abstract

Background and Objectives The idiopathic inflammatory myopathies (IIM) are systemic connective tissue diseases in which autoimmune pathology is responsible for promotion of chronic muscle inflammation and weakness. As in many other autoimmune diseases, the development of IIM is also associated with genes of HLA complex. The aim of this study was to determine the basic relation between alleles of HLA genes and IIM. Materials and Methods We have performed low to high resolution genotyping to characterise the allelic profiles of HLA-DRB1, -DQB1 and -DQA1 loci in a large group of single centre cohort of patients suffering from IIM (n = 269). The genomic DNA was prepared by standard DNA extraction methods and the HLA typing was done using the commercial LABType® SSO kit (One Lambda, USA). Statistical evaluation of results was done with chi-2 test and Fisher exact test. Autoantibody profiles were analysed with radioactive immunoprecipitation. Results The frequencies of HLA-DRB1*03:01 and -DRB1*16:01 alleles were increased in IIM patients and the difference reached statistical significance when compared to healthy controls (P Presence of HLA-DRB1*03:01 allele was associated with anti-Jo-1, anti-Ro52, or anti-Pm-Scl positivity in all IIM patients (P The DRB1*16:01 allele was associated with negativity of all studied autoantibodies, particularly in subgroup of DM patients (P Conclusions This study identifies different genetic background between patients with dermatomyositis and polymyositis in a homogenous population of patients from a single centre. Acknowledgement This work is supported by Internal Grant Agency of Ministry of Health of the Czech Republic NT/12438–4 and NT/13699.

Details

ISSN :
14682060 and 00034967
Volume :
72
Database :
OpenAIRE
Journal :
Annals of the Rheumatic Diseases
Accession number :
edsair.doi...........a634586935c9174c58b6eb022c44a466