title: Mannose-binding lectin promoter and structural gene variants in sarcoidosis.
abstract: BACKGROUND
  Sarcoidosis is a chronic granulomatous disease of unknown aetiology. Studies have suggested that the causative agent may be an infectious micro-organism. The mannose binding lectin (MBL) is involved in innate immunity to a wide range of micro-organisms. Mutations in the promoter region and exon 1 of the MBL gene occur with high frequency and are associated with reduced serum levels of MBL and increased susceptibility to microbial diseases. This study investigated whether MBL variants predispose to sarcoidosis by increasing their susceptibility to micro-organisms.
  
  
  METHODS
  MBL gene promoter and exon 1 variants were detected by sequence specific primer polymerase chain reaction (SSP-PCR) in 167 UK Caucasian sarcoidosis patients and 164 control subjects. Severity of pulmonary disease outcome among patients was assessed by radiography after a minimum of 4 years from disease onset and classified as mild, moderate, and severe disease categories, accordingly.
  
  
  RESULTS
  MBL variant frequencies were similar in patients and controls studied. Among sarcoidosis patients, the frequencies of variants were similar regardless of severity of disease outcome. The average patient ages at time of diagnosis were similar for all MBL genotypes.
  
  
  CONCLUSIONS
  MBL gene variants do not appear to influence susceptibility to sarcoidosis, age of disease onset, or severity of disease.
authors.affiliation: Imperial College of Science, Technology & Medicine, London, UK.
authors.forename: P J
authors.initials: PJ
authors.lastname: Foley
authors.forename: C G
authors.initials: CG
authors.lastname: Mullighan
authors.forename: D S
authors.initials: DS
authors.lastname: McGrath
authors.forename: P
authors.initials: P
authors.lastname: Pantelidis
authors.forename: S
authors.initials: S
authors.lastname: Marshall
authors.forename: P A
authors.initials: PA
authors.lastname: Lympany
authors.forename: K I
authors.initials: KI
authors.lastname: Welsh
authors.forename: R M
authors.initials: RM
authors.lastname: du Bois
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D037222:Collectins; D005091:Exons; D005260:Female; D005796:Genes; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*; D011859:Radiography; D012507:Sarcoidosis / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D037222:Collectins