Parker Zahra, Salie M Taariq, Engel Kélin, Zühlke Liesl J, Engel Mark E, Spracklen Timothy F
Cape Heart Institute, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
South African Medical Research Council, Cape Town, South Africa.
BMC Res Notes. 2025 May 8;18(1):205. doi: 10.1186/s13104-025-07251-x.
Ficolin-3 is a crucial protein for the activation of the complement system. Previous work has indicated this protein may play a role in the pathogenesis of rheumatic heart disease (RHD), and it has been hypothesised that ficolin-3 has potential as a biomarker for early identification of patients with suspected RHD. This study investigated FCN3 gene polymorphisms rs532781899 (c.349del) and rs4494157 (c.658 + 250 C > A) and ficolin-3 serum concentrations in an ethnically diverse cohort of 53 RHD cases and 45 healthy controls from across Africa.
Ficolin-3 was found to be increased by 16% in RHD patients (p = 0.03) compared to controls, but polymorphisms did not associate with the risk of developing RHD nor with ficolin-3 concentrations. Carriers of the c.349del haploinsufficiency locus had normal levels of ficolin-3, while the previously described c.658 + 250 C > A RHD susceptibility locus was found equally in cases and controls. The higher serum ficolin-3 in RHD supports the potential role of this protein in RHD pathogenesis. However, these results suggest that rs532781899 and rs4494157 are not risk factors for the development of RHD in patients from sub-Saharan Africa and would not be reliable as early-stage markers of RHD susceptibility.
纤维胶凝蛋白-3是补体系统激活的关键蛋白。先前的研究表明该蛋白可能在风湿性心脏病（RHD）的发病机制中起作用，并且有人推测纤维胶凝蛋白-3有潜力作为早期识别疑似RHD患者的生物标志物。本研究调查了来自非洲各地的53例RHD病例和45例健康对照组成的不同种族队列中的FCN3基因多态性rs532781899（c.349del）和rs4494157（c.658+250 C>A）以及纤维胶凝蛋白-3血清浓度。
与对照组相比，发现RHD患者的纤维胶凝蛋白-3增加了16%（p=0.03），但多态性与患RHD的风险以及纤维胶凝蛋白-3浓度均无关联。c.349del单倍剂量不足位点的携带者纤维胶凝蛋白-3水平正常，而先前描述的c.658+250 C>A RHD易感位点在病例组和对照组中的发现相同。RHD患者血清中较高的纤维胶凝蛋白-3支持了该蛋白在RHD发病机制中的潜在作用。然而，这些结果表明，rs532781899和rs4494157不是撒哈拉以南非洲患者患RHD的危险因素，也不能作为RHD易感性的可靠早期标志物。
Zotero 插件