Gomaa Maher Hassan, Ali Shawkey Sadik, Fattouh Aya Mohamed, Hamza Hala Salah, Badr Mohamed Mohamed
Biochemistry Department-Faculty of Pharmacy (Boys), Al-Azhar University, Almokhayam Aldaem Street, 6th Province - 13465 Nasr City, Cairo, Egypt.
Department of Pediatrics, Kasr Al-Aini School of Medicine, Cairo University, P.O. Box 99, Manial El-Roda, Cairo, 11553, Egypt.
Pediatr Rheumatol Online J. 2018 Apr 13;16(1):24. doi: 10.1186/s12969-018-0245-x.
Rheumatic 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.
One 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.
The 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.
Our 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.
风湿热（RF）是由化脓性链球菌感染引起的咽炎引发的自身免疫反应的结果。RF在非洲和中东最为普遍。风湿性心脏病（RHD）是RF最严重的并发症。据报道，甘露糖结合凝集素2基因（MBL2）与不同的心脏疾病相关。在埃及患者这一首次研究的新种族群体中，首次评估MBL2基因多态性rs1800450与有无RHD的RF之间的关联。
研究了160例RF患者（80例有RHD，80例无RHD）和80例种族匹配的健康对照。使用TaqMan®等位基因鉴别分析通过实时PCR对MBL2（rs1800450）进行基因分型。通过ELISA测量MBL水平。测定魏氏血沉率（ESR）、抗链球菌溶血素O滴度（ASOT）、C反应蛋白（CRP）和补体（C3和C4）。
与携带B等位基因的受试者相比，产生高MBL的AA基因型与RHD风险增加相关。然而，在无RHD的患者中更频繁地观察到与低MBL产生相关的MBL2基因型。
我们的结果表明MBL2（rs1800450）多态性及其蛋白参与了RHD的发病机制。此外，利用这种多态性来帮助区分有RHD和无RHD的患者可能是一种有前景的未来策略。
