title: CARD15 single nucleotide polymorphisms 8, 12 and 13 are not increased in ethnic Danes with sarcoidosis.
abstract: BACKGROUND
  Mutations of the caspase-activating recruitment domain 15 (CARD15) gene on chromosome 16 are associated with chronic inflammatory granulomatous bowel disease (Crohn's disease). Sarcoidosis is a systemic granulomatous disease with unknown etiology, which shares histological features with Crohn's disease.
  
  
  OBJECTIVE
  To evaluate whether ethnic Danes with sarcoidosis have an increased frequency of CARD15 mutations compared to healthy control subjects.
  
  
  METHODS
  Genotyping for CARD15 mutations R702W, G908R, and L1007fsinsC, also designated single nucleotide polymorphism (SNP) SNP8, SNP12 and SNP13, respectively, were performed by capillary electrophoresis single-strand confirmation polymorphism in 53 patients with histologically verified sarcoidosis and in 103 healthy controls.
  
  
  RESULTS
  The frequencies of CARD15 mutations in sarcoidosis patients were: SNP8, 4/106 chromosomes (3.8%); SNP12, 2/106 chromosomes (1.9%); SNP13, 2/106 chromosomes (1.9%); SNP8+SNP12+SNP13, 8/106 chromosomes (7.6%). All 8 patients were heterozygous. The frequencies in controls were: SNP8, 9/206 chromosomes (4.4%); SNP12, 2/206 chromosomes (1.0%); SNP13, 4/206 chromosomes (1.9%); SNP8+SNP12+SNP13, 15/206 chromosomes (7.3%). All controls were heterozygous. The differences were not statistically significant (p>0.05). Furthermore, the course of disease was not significantly different in the 8 patients with CARD15 mutations and the 45 patients without mutations.
  
  
  CONCLUSIONS
  The frequency of CARD15 mutations is not increased in ethnic Danish patients with sarcoidosis, and heterozygosity for such mutations apparently has no influence on the course of disease.
authors.affiliation: Department of Medicine B, Division of Lung Transplantation, Rigshospitalet, Copenhagen University Hospital, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark. milman@rh.dk
authors.forename: Nils
authors.initials: N
authors.lastname: Milman
authors.forename: Ole Haagen
authors.initials: OH
authors.lastname: Nielsen
authors.forename: Thomas Vauvert F
authors.initials: TV
authors.lastname: Hviid
authors.forename: Kirsten
authors.initials: K
authors.lastname: Fenger
mesh_terms: D000328:Adult; D000368:Aged; D003424:Crohn Disease; D004247:DNA / Q000235:genetics*; D003718:Denmark / Q000208:ethnology; D005006:Ethnicity; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012507:Sarcoidosis / Q000208:ethnology / Q000235:genetics*
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D004247:DNA