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Mannose Binding Lectin and Susceptibility to Rheumatoid Arthritis in Brazilian Patients and Their Relatives
Authors:Isabela Goeldner  Thelma L. Skare  Shirley R. Utiyama  Renato M. Nisihara  Hoang van Tong  Iara J. T. Messias-Reason  Thirumalaisamy P. Velavan
Affiliation:1. Department of Medical Pathology, Federal University of Paraná, Curitiba, Brazil.; 2. Institute of Tropical Medicine, University of Tübingen, Tübingen, Germany.; 3. Rheumatology Unit, Evangelical Hospital, Curitiba, Brazil.; 4. Fondation Congolaise pour la Recherche Medicale, Brazzaville , Republic of Congo.; University of Leicester, United Kingdom,
Abstract:

Introduction

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.

Methods

In 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.

Results

The 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.

Conclusions

Our results suggest MBL levels as a possible marker for RA susceptibility in a Brazilian population.
Keywords:
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