Mannose binding lectin and susceptibility to rheumatoid arthritis in Brazilian patients and their relatives

PLoS One. 2014 Apr 21;9(4):e95519. doi: 10.1371/journal.pone.0095519. eCollection 2014.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Arthritis, Rheumatoid / blood*
  • Arthritis, Rheumatoid / genetics
  • Brazil
  • Case-Control Studies
  • Child
  • Cohort Studies
  • Disease Susceptibility / blood*
  • Family*
  • Female
  • Genetic Predisposition to Disease
  • Haplotypes / genetics
  • Humans
  • Male
  • Mannose-Binding Lectin / blood*
  • Mannose-Binding Lectin / genetics
  • Middle Aged
  • Young Adult

Substances

  • MBL2 protein, human
  • Mannose-Binding Lectin

Grants and funding

This work was partially supported by grants from the Araucária Foundation (No. 412/2009, protocol 5103), as well as by fellowship from the Coordination for the Improvement of Higher Level Personnel (CAPES). The authors acknowledge the partial support by the Open Access Publishing Fund of Tuebingen University. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.