title: Structural polymorphisms in the mannose-binding lectin gene are associated with juvenile idiopathic arthritis.
abstract: OBJECTIVE
  To investigate the possible association between polymorphisms of the mannose-binding lectin gene (MBL2) and susceptibility to juvenile idiopathic arthritis (JIA).
  
  
  METHODS
  We performed a case-control association study including 118 Hungarian patients with JIA and 118 sex-matched healthy controls. MBL genotyping for the 3 mutant structural alleles at codons 54 (B), 57 (C), and 52 (D) in exon 1 and the promoter polymorphisms at position -550 (HL) and -221 (YX) were carried out by real-time PCR allelic discrimination. Serum level of MBL was determined by ELISA.
  
  
  RESULTS
  Variant allele frequencies of both codon 52 and 57 polymorphisms in the MBL2 gene were significantly overrepresented in JIA (p=0.001 and p=0.004, respectively). The frequency of low MBL genotypes (XA/XA, YA/YO, XA/YO, and YO/YO) in JIA was higher than that in healthy controls (p=0.001). Serum MBL concentrations were found to be significantly lower in JIA patients versus control subjects (p=0.001). The 2 promoter polymorphisms and codon 54 SNP of the MBL2 gene were not associated with JIA.
  
  
  CONCLUSIONS
  Our findings suggest that genetically determined low MBL levels may predispose children to JIA in a Hungarian population. These data warrant further research to investigate the role of the lectin-dependent complement system in the pathogenesis of JIA.
authors.affiliation: 1st Department of Rheumatology, National Institute of Rheumatology and Physiotherapy, Frankel Leó u. 25-29, Budapest, H-1023 Hungary.
authors.forename: Péter
authors.initials: P
authors.lastname: Gergely
authors.forename: Borbála
authors.initials: B
authors.lastname: Pazár
authors.forename: Zsolt B
authors.initials: ZB
authors.lastname: Nagy
authors.forename: Tímea
authors.initials: T
authors.lastname: Gombos
authors.forename: Katalin
authors.initials: K
authors.lastname: Rajczy
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Balogh
authors.forename: Ilona
authors.initials: I
authors.lastname: Orbán
authors.forename: Krisztina
authors.initials: K
authors.lastname: Sevcic
authors.forename: Gyula
authors.initials: G
authors.lastname: Poór
mesh_terms: D000293:Adolescent; D000328:Adult; D001171:Arthritis, Juvenile / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006814:Hungary; D007223:Infant; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics; D055815:Young Adult
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin