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Evaluation of Ficolin-3 deficiency as a risk factor in the development of rheumatic heart disease
Zahra Parker1, M Taariq Salie1, Kélin Engel1
1Cape Heart Institute, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Insights
Ficolin-3 levels are higher in rheumatic heart disease (RHD) patients, but specific gene variants do not predict RHD risk or ficolin-3 levels. These variants are not reliable early markers for RHD susceptibility.
Area of Science:
- Immunology
- Genetics
- Cardiovascular Disease Research
Background:
- Ficolin-3 is a key protein in complement system activation.
- Rheumatic heart disease (RHD) pathogenesis may involve ficolin-3.
- Ficolin-3 is a potential biomarker for early RHD detection.
Purpose of the Study:
- Investigate FCN3 gene polymorphisms (rs532781899 and rs4494157) and ficolin-3 serum concentrations in RHD.
- Determine if these polymorphisms are associated with RHD risk or ficolin-3 levels.
- Assess the utility of ficolin-3 as an early biomarker for RHD.
Main Methods:
- Analyzed FCN3 gene polymorphisms rs532781899 (c.349del) and rs4494157 (c.658+250 C>A).
- Measured ficolin-3 serum concentrations in 53 RHD cases and 45 controls from Africa.
- Utilized statistical analysis to compare RHD patients and healthy controls.
Main Results:
- Ficolin-3 serum concentrations were 16% higher in RHD patients (p=0.03).
- No association found between the studied polymorphisms and RHD risk or ficolin-3 levels.
- The c.349del locus did not affect ficolin-3 levels; the c.658+250 C>A locus was equally present in cases and controls.
Conclusions:
- Elevated serum ficolin-3 supports its role in RHD pathogenesis.
- rs532781899 and rs4494157 are not risk factors for RHD in sub-Saharan African patients.
- These specific polymorphisms are unlikely to serve as reliable early markers for RHD susceptibility.
Objective:
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.
Results:
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.
