Rheumatology Medical News about JIA;structural polymorphisms;mannose-binding lectin gene

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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

Results

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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