Abstract
BackgroundRheumatic fever (RF) is the result of an autoimmune response to pharyngitis caused by infection with Streptococcus pyogenes. RF is most prevalent in Africa and the Middle East. Rheumatic heart disease (RHD) is the most serious complication of RF. Mannose-binding lectin 2 gene (MBL2) has been reported to be correlated with different cardiac conditions. In Egyptian patients as a new studied ethnic population, it is the first time to evaluate the association between MBL2 gene polymorphism rs1800450 and RF with and without RHD.MethodsOne hundred and sixty RF patients (80 with RHD and 80 without RHD) and eighty healthy ethnically matched controls were studied. MBL2 (rs1800450) was genotyped by real-time PCR using TaqMan® allele discrimination assay. The MBL level was measured by ELISA. Westergren erythrocytes sedimentation rate (ESR), anti-streptolysin O titer (ASOT), C-reactive protein (CRP) and complements (C3 and C4) were determined.ResultsThe AA genotype with high production of MBL was associated with increased risk of RHD more than the B allele carrying subjects. However, MBL2 genotype related to the low production of MBL was more frequently observed in those patients without RHD.ConclusionsOur results suggested the involvement of MBL2 (rs1800450) polymorphism and its protein in RHD pathogenesis. Also, it might be a promising future strategy to utilize this polymorphism to help differentiate patients with RHD from those without RHD.
Highlights
Rheumatic fever (RF) is the result of an autoimmune response to pharyngitis caused by infection with Streptococcus pyogenes
Regarding anti-streptolysin O titer (ASOT), 1st-h erythrocytes sedimentation rate (ESR), C-reactive protein (CRP) and complement 3 (C3), significantly increased values were obtained in RF patients without Rheumatic heart disease (RHD) as compared to control
RF patients with RHD showed significantly increased values concerning to 1st-h ESR, CRP, C3 and Mannose-binding lectin (MBL) as compared to controls
Summary
Rheumatic fever (RF) is the result of an autoimmune response to pharyngitis caused by infection with Streptococcus pyogenes. Rheumatic heart disease (RHD) is the most serious complication of RF. A large African study indicated that RHD prevails as the most frequent cause of heart failure (HF) among children and young adults [4]. Despite being preventable and imminently treatable disease, sadly, RHD can go undetected until patients’ presentation with debilitating HF. At this stage, surgery is the only possible treatment option [5]. Patients living in poor countries have limited or no access to expensive heart surgery. To prevent these serious complications, it is very important to find out the most patients vulnerable to RHD to receive their further medical follow-up
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