Dolman KM et al. - Deficiency of mannose-binding lectin (MBL), an innate immune protein does not increase susceptibility to juvenile rheumatoid arthritis (JRA) but is associated with a younger age of onset of juvenile polyarthritis. Methods
Aim was to determine whether 1. MBL deficiency is associated with susceptibility to JRA and 2. MBL2 genotypes are associated with JRA severity
In a retrospective study including 218 pts with polyarthritis (n=67) and oligoarthritis (n=151), clinical and laboratory disease variables were obtained
Healthy Caucasian adults (n=194) served as controls
MBL2 gene mutations were determined by Taqman analysis
Functional MBL plasma concs. were measured by ELISA
Associations between clinical and laboratory variables and MBL2 genotypes were determined by Kruskal-Wallis and Chi-square tests
Results
MBL2 genotype frequencies were similar in polyarthritis and oligoarthritis pts
MBL plasma concs. were associated with the high, medium and low MBL genotype expression groups
In polyarthritis pts, the low-expressing MBL2 genotypes were associated with early age of onset of disease
In oligoarthritis pts, low-expressing MBL2 genotypes were more often in remission (81%) vs. medium (54%) and high (56%) genotype
Arthritis severity index, presence of radiographic erosions and antinuclear antibody positivity, were not associated with MBL2 genotypes