Mannose-binding lectin gene polymorphisms in a cohort study of ANCA-associated small vessel vasculitis.

Journal article

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.

Authors: Kamesh, L; Heward, J; Williams, J; Gough, S; Savage, C

• Publication status: Published
• Journal: Rheumatology (Oxford, England)
• Volume: 46
• Issue: 7
• Pages: 1076-1078
• Publication date: 2007-07-01
• DOI: 10.1093/rheumatology/kem099
• EISSN: 1462-0332
• ISSN: 1462-0324
• Language: English
• Keywords: Genotype; Risk; Chi-Square Distribution; Statistics, Nonparametric; Promoter Regions, Genetic; Bacterial Infections; Churg-Strauss Syndrome; Polymorphism, Restriction Fragment Length; Humans; Wegener Granulomatosis; Enzyme-Linked Immunosorbent Assay; Polymorphism, Single Nucleotide; Case-Control Studies; Haplotypes; Vasculitis; Antibodies, Antineutrophil Cytoplasmic; Mannose-Binding Lectin; Genetic Predisposition to Disease