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OBJECTIVE: To investigate whether single nucleotide polymorphisms (SNPs) within the mannose-binding lectin (MBL) gene are associated with small vessel vasculitis (SVV) and are a risk factor for intercurrent infection, as described previously in other autoimmune diseases. METHODS: Six SNPs in the MBL promoter and coding region were genotyped by sequence-specific polymerase chain reaction or restriction fragment length polymorphism assay in 170 white Caucasians with SVV and 372 ethnically matched controls in a case-control association study. Serum MBL levels were measured by ELISA. The genotype and protein concentrations were correlated to clinical details retrieved from hospital records. RESULTS: No differences in allelic and genotypic frequencies were detected between patients with SVV and control subjects. MBL deficiency did not increase the susceptibility to infection (P = 0.6, Fisher's exact test) or the duration of hospital stay. CONCLUSION: Our data suggest that MBL polymorphisms are not associated with SVV and do not influence the incidence of concomitant infections. These results raise doubts about the usefulness of MBL polymorphisms as a predictive marker for infection in SVV.

Original publication

DOI

10.1093/rheumatology/kem099

Type

Journal article

Journal

Rheumatology (Oxford)

Publication Date

07/2007

Volume

46

Pages

1076 - 1078

Keywords

Antibodies, Antineutrophil Cytoplasmic, Bacterial Infections, Case-Control Studies, Chi-Square Distribution, Churg-Strauss Syndrome, Enzyme-Linked Immunosorbent Assay, Genetic Predisposition to Disease, Genotype, Granulomatosis with Polyangiitis, Haplotypes, Humans, Mannose-Binding Lectin, Polymorphism, Restriction Fragment Length, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Risk, Statistics, Nonparametric, Vasculitis