1. Structural polymorphisms in the mannose-binding lectin gene are associated with juvenile idiopathic arthritis.
- Author
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Gergely P Jr, Pazár B, Nagy ZB, Gombos T, Rajczy K, Balogh Z, Orbán I, Sevcic K, and Poór G
- Subjects
- Adolescent, Adult, Case-Control Studies, Child, Child, Preschool, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Hungary, Infant, Male, Middle Aged, Promoter Regions, Genetic genetics, Young Adult, Arthritis, Juvenile genetics, Mannose-Binding Lectin genetics, Polymorphism, Genetic
- 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., 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.
- Published
- 2009
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