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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Hristova, M. Dourmishev, L. Kamenarska, Z. Miteva, L. Vinkov, A. Kaneva, R. Mitev, V. Savov, A. |
| Spatial Coverage | Bulgaria |
| Description | Country affiliation: Bulgaria Author Affiliation: Hristova M ( Department of Clinical Laboratory and Clinical Immunology, Medical University-Sofia, Sofia, Bulgaria.) |
| Abstract | 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, MBL2 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 MBL2-550G/C (H/L), -221G/C (Y/X), Arg52Cys (D), Gly54Asp (B), Gly57Glu (C) polymorphisms and MBL serum levels as a risk factor for a development of adult DM and SLE in Bulgarian patients. None of the studied MBL2 polymorphisms appeared associated with the diseases investigated. However, we have found an increased OR of MBL2-221XY genotype in the patients with SLE (OR 1.64, 95%CI 0.77-3.52). MBL2 polymorphisms seemed to affect MBL serum levels and to be associated with the clinical features although none of the associations remained statistically significant after Bonferroni correction. The-550L allele showed an association with electromyography findings in patients with DM. The-221XY genotype was associated with photosensitivity in patients with SLE. The 54AB 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 MBL2 polymorphisms have rather a disease modifying role and they are not associated with the disease susceptibility in adult DM and SLE among Bulgarian patients. |
| File Format | HTM / HTML |
| ISSN | 17443121 |
| Issue Number | 2 |
| Volume Number | 41 |
| e-ISSN | 1744313X |
| Journal | International Journal of Immunogenetics |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2014-04-01 |
| Publisher Place | Great Britain (UK) |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Genetics Discipline Immunology Dermatomyositis Genetics Lupus Erythematosus, Systemic Mannose-binding Lectin Adult Alleles Bulgaria Case-control Studies Blood Female Gene Frequency Genetic Predisposition To Disease Genotype Humans Male Middle Aged Polymorphism, Genetic Risk Factors Journal Article Research Support, Non-u.s. Gov't |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Molecular Biology Immunology Genetics (clinical) |
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