CARD15 gene variants in aggressive periodontitis

J Clin Periodontol. 2006 Nov;33(11):779-83. doi: 10.1111/j.1600-051X.2006.00995.x. Epub 2006 Sep 11.

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.

Material and 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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Arginine / genetics
  • Base Sequence / genetics
  • Case-Control Studies
  • Cytosine
  • DNA Transposable Elements / genetics
  • Disease Susceptibility
  • Exons / genetics
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / genetics
  • Genetic Variation / genetics*
  • Glycine / genetics
  • Guanine
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics
  • Nod2 Signaling Adaptor Protein / genetics*
  • Periodontitis / genetics*
  • Thymine
  • Tryptophan / genetics

Substances

  • DNA Transposable Elements
  • Nod2 Signaling Adaptor Protein
  • Guanine
  • Tryptophan
  • Cytosine
  • Arginine
  • Thymine
  • Glycine