MANNOSE BINDING LECTIN (MBL) GENE POLYMORPHISMS AND THEIR RELATIONS WITH CLINICAL FEATURES IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER (FMF)

Abstract

WOS: 000424419500001Objective: Mannose-binding lectin (MBL), which takes part in the lectin pathway of the complement system as a component of innate immunity, is activated by the stimulation of various bacterial lectins. It is known that some of the MBL gene polymorphisms (eg, codon 52, codon 54) that may lead to alterations in MBL serum levels are responsible for the susceptibility to infectious diseases and contribute to the pathogenesis of various autoimmune and inflammatory diseases. In this study, we planned to investigate the frequencies of codon 52 and codon 54 polymorphisms of the MBL gene in FMF patients and their association with the clinical features of the disease. Materials and Methods: MBL gene polymorphisms of the R52C C>T and G54D G>A were investigated by sequencing in 157 FMF patients and 150 unrelated healthy controls. MEFV gene mutations in FMF patients were investigated by sequencing method. The clinical characteristics of the patients and the C-reactive protein (CRP) values in attack-free phase were recorded. Statistical analysis of the findings was performed with the SPSS version 18.0. Results: The MBL gene R52C C>T polymorphism was detected in 12.7% of the patients and 10.6% of the controls. G54D G>A polymorphism was detected in 26.7% of the patients and 26.6% of the controls. There was no significant difference between the two groups (p=0.794). No significant correlations between MBL gene polymorphisms and various clinical characteristics of patients (amyloidosis, fever, colchicine response) were found. Mean CRP level of the FMF patients was 4.90 +/- 6.72 mg/dL. In FMF patients with elevated serum CRP levels (>0.8 mg/L), codon 54 MBL polymorphism frequency was 14.8%, codon 52 polymorphism frequency was 25.2%. Codon 52 and codon 54 polymorphism frequencies were not different between the groups according to CRP level (p>0.05). In FMF patients, significant correlations were found between M694V and amyloidosis (p=0.002) as well as between M694I and colchicine resistance (p=0.016). Conclusion: The absence of a relationship between MBL polymorphisms and high CRP levels in attack-free phase of FMF patients suggests that the proinflammatory state in some FMF patients is not related to MBL mediated mechanisms. In our cases, the significant relationship between M694I and colchicine resistance is remarkable. Our finding of the significant relationship between M694V and amyloidosis is consistent with previous literature and demonstrating the importance of M694V in disease severity and prognosis