title: Mannose binding lectin and susceptibility to rheumatoid arthritis in Brazilian patients and their relatives.
abstract: BACKGROUND
  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.
authors.affiliation: Department of Medical Pathology, Federal University of Paraná, Curitiba, Brazil; Institute of Tropical Medicine, University of Tübingen, Tübingen, Germany.
authors.forename: Isabela
authors.initials: I
authors.lastname: Goeldner
authors.affiliation: Rheumatology Unit, Evangelical Hospital, Curitiba, Brazil.
authors.forename: Thelma L
authors.initials: TL
authors.lastname: Skare
authors.affiliation: Department of Medical Pathology, Federal University of Paraná, Curitiba, Brazil.
authors.forename: Shirley R
authors.initials: SR
authors.lastname: Utiyama
authors.affiliation: Department of Medical Pathology, Federal University of Paraná, Curitiba, Brazil.
authors.forename: Renato M
authors.initials: RM
authors.lastname: Nisihara
authors.affiliation: Institute of Tropical Medicine, University of Tübingen, Tübingen, Germany.
authors.forename: Hoang van
authors.initials: Hv
authors.lastname: Tong
authors.affiliation: Department of Medical Pathology, Federal University of Paraná, Curitiba, Brazil.
authors.forename: Iara J T
authors.initials: IJ
authors.lastname: Messias-Reason
authors.affiliation: Institute of Tropical Medicine, University of Tübingen, Tübingen, Germany; Fondation Congolaise pour la Recherche Medicale, Brazzaville , Republic of Congo.
authors.forename: Thirumalaisamy P
authors.initials: TP
authors.lastname: Velavan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000097:blood* / Q000235:genetics; D001938:Brazil; D016022:Case-Control Studies; D002648:Child; D015331:Cohort Studies; D004198:Disease Susceptibility / Q000097:blood*; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D037601:Mannose-Binding Lectin / Q000097:blood* / Q000235:genetics; D008875:Middle Aged; D055815:Young Adult
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin
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