title: CARD15 gene variants in aggressive periodontitis.
abstract: OBJECTIVE
  The CARD15 gene encodes a protein that acts as an intracellular receptor of bacterial products, thus playing an important role in the innate immune response. Recently, CARD15 gene variants have been identified as a cause of increased susceptibility to Crohn's disease. The present study aimed to examine a potential association of CARD15 gene variants with aggressive periodontitis susceptibility.
  
  
  METHODS
  The three main known CARD15 gene variants (p.R702W, p.G908R, and p.L1007fsX1008) were analysed by direct sequencing of exon 4, 8, and 11 of the gene in a total of 86 generalized aggressive periodontitis patients in comparison with 67 healthy controls.
  
  
  RESULTS
  The mutant allele frequencies of the CARD15 variants were low in the generalized aggressive periodontitis group as well as in the control group and not significantly different (R702W: 3.5% versus 5.2%; G908R: 1.7% versus 1.5%; L1007fsX1008: 5.2% versus 4.5%). Two rare variants (A755V and R791Q), previously described only in patients with other inflammatory diseases, were observed in three patients having aggressive periodontitis but not in controls.
  
  
  CONCLUSIONS
  Unlike in Crohn's disease, our results did not show an association between the three main CARD15 mutations and aggressive periodontitis. The role of rare variants remains unclear.
authors.affiliation: Department of Conservative Dentistry, University Hospital Carl Gustav Carus, Dresden University of Technology, Dreseden, Germany. Barbara.Noack@uniklinikum-dresden.de
authors.forename: B
authors.initials: B
authors.lastname: Noack
authors.forename: H
authors.initials: H
authors.lastname: Görgens
authors.forename: T
authors.initials: T
authors.lastname: Hoffmann
authors.forename: H K
authors.initials: HK
authors.lastname: Schackert
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D016022:Case-Control Studies; D003596:Cytosine; D004251:DNA Transposable Elements / Q000235:genetics; D004198:Disease Susceptibility; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D005998:Glycine / Q000235:genetics; D006147:Guanine; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D010518:Periodontitis / Q000235:genetics*; D013941:Thymine; D014364:Tryptophan / Q000235:genetics
chemical_list: D004251:DNA Transposable Elements; D053473:Nod2 Signaling Adaptor Protein; D006147:Guanine; D014364:Tryptophan; D003596:Cytosine; D001120:Arginine; D013941:Thymine; D005998:Glycine