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MBL 2 polymorphisms – manifestations in Bulgarian patients with adult dermatomyositis and systemic lupus erythematosus
Author(s) -
Hristova M.,
Dourmishev L.,
Kamenarska Z.,
Miteva L.,
Vinkov A.,
Kaneva R.,
Mitev V.,
Savov A.
Publication year - 2014
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/iji.12093
Subject(s) - mannan binding lectin , dermatomyositis , genotype , immunology , medicine , lupus erythematosus , allele , autoimmune disease , disease , biology , lectin , gene , genetics , antibody
Summary Deficiency in some complement factors is known to cause both systemic lupus erythematosus ( SLE ) and dermatomyositis ( DM ). Mannose‐binding lectin ( MBL ) is a recognition molecule of the lectin pathway, and its low levels are reported to influence some autoimmune diseases. Furthermore, MBL 2 polymorphisms have been described associated with low MBL serum levels due to impaired MBL structure and function. This is a pilot study to investigate the role of MBL 2 ‐550 G / C ( H / L ), ‐221 G / C ( Y / X ), Arg52 C ys ( D ), G ly54 A sp (B), G ly57 G lu (C) polymorphisms and MBL serum levels as a risk factor for a development of adult DM and SLE in B ulgarian patients. None of the studied MBL 2 polymorphisms appeared associated with the diseases investigated. However, we have found an increased OR of MBL 2 ‐221 XY genotype in the patients with SLE ( OR 1.64, 95% CI 0.77–3.52). MBL 2 polymorphisms seemed to affect MBL serum levels and to be associated with the clinical features although none of the associations remained statistically significant after B onferroni correction. The‐550L allele showed an association with electromyography findings in patients with DM . The‐221 XY genotype was associated with photosensitivity in patients with SLE . The 54 AB genotype showed an association with malar rash in patients with SLE , but it appeared decreased among SLE patients with ANA . In conclusion, our results suggest that the MBL 2 polymorphisms have rather a disease modifying role and they are not associated with the disease susceptibility in adult DM and SLE among Bulgarian patients.