title: Mannose-binding lectin is a disease-modifying factor in North American patients with systemic lupus erythematosus.
abstract: OBJECTIVE
  To investigate whether development of systemic lupus erythematosus (SLE), its clinical manifestations, and autoantibody production are associated with polymorphisms of the mannose-binding lectin (MBL) gene in North American patients with SLE.
  
  
  METHODS
  MBL gene polymorphisms in codons 52 (designated variant D, with the wild-type designated A), 54 (variant B), and 57 (variant C) were determined by polymerase chain reaction-sequence specific priming in 130 patients with SLE and 142 healthy controls. Autoantibodies against double-stranded DNA (dsDNA), Smith antigen, phospholipids, Ro/SSA, La/SSB, and RNP were tested at certified clinical pathology laboratories.
  
  
  RESULTS
  A statistically significant increased likelihood of anti-Smith antibody production was observed in SLE patients with the heterozygous A/B genotype [odds ratio (OR) 5.1; 95% confidence interval (CI) 1.6-16.6; the A/A genotype as the reference group] or A/C genotype (OR 8.2; 95% CI 2.0-33.9). SLE patients with the homozygous or compound heterozygous variant genotype (O/O; O, a common designation for variant alleles) had an increased likelihood of mounting autoantibody responses against dsDNA, Ro/SSA, and La/SSB, and were more likely to have a history of renal disease (OR 4.8; 95% CI 0.9-25.2). However, differences in the frequencies of MBL variant alleles and genotypes observed between patients with SLE and controls did not reach statistical significance.
  
  
  CONCLUSIONS
  A significantly increased prevalence of anti-Smith antibody was associated with the heterozygous genotypes A/B and A/C. Although MBL structural gene polymorphism was not a risk factor for SLE development in this study population, homozygosity of MBL variant alleles may be a weak disease-modifying factor, particularly for renal involvement, in North American patients with SLE.
authors.affiliation: Lupus Center of Excellence, University of Pittsburgh Schools of Health Sciences, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA.
authors.forename: Wenhua
authors.initials: W
authors.lastname: Piao
authors.forename: Chau-Ching
authors.initials: CC
authors.lastname: Liu
authors.forename: Amy H
authors.initials: AH
authors.lastname: Kao
authors.forename: Susan
authors.initials: S
authors.lastname: Manzi
authors.forename: Molly T
authors.initials: MT
authors.lastname: Vogt
authors.forename: Margie J
authors.initials: MJ
authors.lastname: Ruffing
authors.forename: Joseph M
authors.initials: JM
authors.lastname: Ahearn
mesh_terms: D000328:Adult; D001323:Autoantibodies / Q000097:blood; D005006:Ethnicity; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000097:blood / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D037601:Mannose-Binding Lectin / Q000097:blood / Q000235:genetics*; D010414:Pennsylvania / Q000453:epidemiology; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index
chemical_list: D001323:Autoantibodies; D037601:Mannose-Binding Lectin