RT Journal Article
SR Electronic
T1 Structural Polymorphisms in the Mannose-Binding Lectin Gene Are Associated with Juvenile Idiopathic Arthritis
JF The Journal of Rheumatology
JO J Rheumatol
FD The Journal of Rheumatology
SP jrheum.080681
DO 10.3899/jrheum.080681
A1 Péter Gergely, Jr.
A1 Borbála Pazár
A1 Zsolt B. Nagy
A1 Tímea Gombos
A1 Katalin Rajczy
A1 Zsolt Balogh
A1 Ilona Orbán
A1 Krisztina Sevcic
A1 Gyula Poór
YR 2009
UL http://www.jrheum.org/content/early/2009/03/13/jrheum.080681.abstract
AB 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, andYO/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. Conclusion 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.