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Structural polymorphisms in the mannose-binding lectin gene are associated with juvenile idiopathic arthritis
Journal of Rheumatology, 04/10/09
Gergely Jr. P et al. – Study reports that genetically determined low mannose-binding lectin (MBL) levels may predispose children to juvenile idiopathic arthritis (JIA) in a Hungarian population.
Methods- Aim was to investigate the possible association between polymorphisms of the MBL2 gene and susceptibility to JIA
- 118 Hungarian pts with JIA and 118 sex-matched healthy controls
- MBL genotyping for the 3 mutant structural alleles carried out by RT-PCR at:
- codons 54 (B), 57 (C), and 52 (D) in exon 1
- and the promoter polymorphisms at position -550 (HL) and -221 (YX)
- Serum level of MBL was determined by ELISA
- Variant allele frequencies of both codon 52 and 57 polymorphisms in the MBL2 gene were overrepresented in JIA
- The frequency of low MBL genotypes (XA/XA, YA/YO, XA/YO, and YO/YO) in JIA was higher vs healthy controls
- Serum MBL concns were lower in JIA pts vs control subjects
- The 2 promoter polymorphisms and codon 54 SNP of the MBL2 gene were not associated with JIA
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