MBL2 gene polymorphism rs1800450 and rheumatic fever with and without rheumatic heart disease: an Egyptian pilot study

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.

The role of the lectin pathway of the complement system in SARS-CoV-2 lung injury

“…for the AA genotype of the MBL2, rs1800450 gene. 48 Corroborating with this data, 3 SNPs of our study presented genotypes that might be associated with high MBL tissue expression in the pulmonary alveolar microenvironment.…”

Alterations in the Nervous System and Gut Microbiota after β-Hemolytic Streptococcus Group A Infection—Characteristics and Diagnostic Criteria of PANDAS Recognition

“…Interestingly, recurrent infections may be associated with the polymorphism of codon 54 of the MBL2 gene [183]. MBL2 polymorphism is also suspected to play a role in the pathogenesis of rheumatic heart disease and rheumatic fever [184]. Therefore, the MBL2 gene is suspected to be one of the diagnostic markers of PANDAS.…”

The Clinical Value of Ficolin-3 Gene Polymorphism in Rheumatic Heart Disease. An Egyptian Adolescents Study

“…Few studies showed an association between collectin and colin genes polymorphisms and infectious and autoimmune diseases [31][32][33][34][35][36]. It was shown that there are some associations between gene polymorphisms of MBL [37][38][39][40], Ficolin-1 [16], Ficolin-2 [41] [42], and MASP-2 [43] with RF. However, the impact of the colin-3/FCN3 gene on RF and RHD is currently obscure.…”