title: Mannose-binding lectin gene polymorphisms in a cohort study of ANCA-associated small vessel vasculitis.
abstract: 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.
  
  
  CONCLUSIONS
  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.affiliation: Division of Immunity and Infection, The Medical School, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.
authors.forename: L
authors.initials: L
authors.lastname: Kamesh
authors.forename: J M
authors.initials: JM
authors.lastname: Heward
authors.forename: J M
authors.initials: JM
authors.lastname: Williams
authors.forename: S C L
authors.initials: SC
authors.lastname: Gough
authors.forename: C O S
authors.initials: CO
authors.lastname: Savage
authors.forename: L
authors.initials: L
authors.lastname: Harper
mesh_terms: D019268:Antibodies, Antineutrophil Cytoplasmic / Q000276:immunology*; D001424:Bacterial Infections / Q000235:genetics / Q000378:metabolism; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D015267:Churg-Strauss Syndrome / Q000097:blood / Q000235:genetics / Q000276:immunology; D004797:Enzyme-Linked Immunosorbent Assay; D020022:Genetic Predisposition to Disease; D005838:Genotype; D014890:Granulomatosis with Polyangiitis / Q000097:blood / Q000235:genetics / Q000276:immunology; D006239:Haplotypes; D006801:Humans; D037601:Mannose-Binding Lectin / Q000097:blood / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012306:Risk; D018709:Statistics, Nonparametric; D014657:Vasculitis / Q000097:blood / Q000235:genetics* / Q000276:immunology
chemical_list: D019268:Antibodies, Antineutrophil Cytoplasmic; D037601:Mannose-Binding Lectin