Abstract
IntroductionRheumatoid arthritis (RA) is a commonly occurring systemic inflammatory auto immune disease and is believed to be associated with genetic factors. The innate immune complement protein Mannose binding lectin (MBL) and their MBL2 genetic variants are associated with different infectious and autoimmune diseases.MethodsIn a Brazilian cohort, we aim to associate the functional role of circulating MBL serum levels and MBL2 variants in clinically classified patients (n = 196) with rheumatoid arthritis including their relatives (n = 200) and ethnicity matched healthy controls (n = 200). MBL serum levels were measured by ELISA and functional MBL2 variants were genotyped by direct sequencing.ResultsThe exon1+54 MBL2*B variant was significantly associated with an increased risk and the reconstructed haplotype MBL2*LYPB was associated with RA susceptibility. Circulating serum MBL levels were observed significantly lower in RA patients compared to their relatives and controls. No significant contribution of MBL levels were observed with respect to functional class, age at disease onset, disease duration and/or other clinical parameters such as nodules, secondary Sjögren syndrome, anti-CCP and rheumatoid factor. Differential distribution of serum MBL levels with functional MBL2 variants was observed in respective RA patients and their relatives.ConclusionsOur results suggest MBL levels as a possible marker for RA susceptibility in a Brazilian population.
Highlights
Rheumatoid arthritis (RA) is a commonly occurring systemic inflammatory auto immune disease and is believed to be associated with genetic factors
Our results indicate that the presence of minor alleles 2550H and 24Q contributed significantly to higher Mannose binding lectin (MBL) serum levels whereas minor alleles MBL2*D, MBL2*B and MBL2*C at codons 52, 54 and 57, respectively contributed significantly to lower MBL levels (Figure 4)
We observed that functional MBL2 variants and MBL levels are significantly associated with RA and towards clinical progression in the studied Brazilian cohort
Summary
Rheumatoid arthritis (RA) is a commonly occurring systemic inflammatory auto immune disease and is believed to be associated with genetic factors. The innate immune complement protein Mannose binding lectin (MBL) and their MBL2 genetic variants are associated with different infectious and autoimmune diseases. The lectin pathway is one of the three pathways of the complement system and can be triggered by patternrecognition receptors, mainly mannose-biding lectin (MBL), ficolins and collectin 11 [9] These innate recognitions elements such as MBL and ficolins were associated with susceptibility to various clinical infectious diseases [10,11,12,13,14]. These proteins bind to pathogen- or damage-associated molecular patterns and together with MBL-associated serine proteases, activates a cascade of events resulting in membrane attack complex. Complement system has been related to the development and clinical presentation of many autoimmune diseases [16,17,18]
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