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Published on: January 21, 2020
CARD15 gene variants in aggressive periodontitis
B Noack1, H Görgens, T Hoffmann
1Department of Conservative Dentistry, University Hospital Carl Gustav Carus, Dresden University of Technology, Dreseden, Germany. Barbara.Noack@uniklinikum-dresden.de
Insights
Genetic variants in the CARD15 gene, known to influence Crohn's disease susceptibility, were investigated for their role in aggressive periodontitis. This study found no significant association between common CARD15 mutations and aggressive periodontitis risk.
Area of Science:
- Genetics
- Immunology
- Periodontology
Background:
- The CARD15 gene is crucial for innate immunity, acting as an intracellular receptor for bacterial products.
- CARD15 gene variants are linked to increased susceptibility to Crohn's disease.
- Aggressive periodontitis is a severe inflammatory condition affecting the gums and supporting bone.
Purpose of the Study:
- To investigate the potential association between CARD15 gene variants and susceptibility to aggressive periodontitis.
- To determine if genetic variations in CARD15 contribute to the development of aggressive periodontitis.
- To compare the role of CARD15 variants in aggressive periodontitis with their known role in Crohn's disease.
Main Methods:
- Direct sequencing of exons 4, 8, and 11 of the CARD15 gene.
- Analysis of three main known CARD15 variants (p.R702W, p.G908R, and p.L1007fsX1008).
- Comparison of allele frequencies in 86 generalized aggressive periodontitis patients and 67 healthy controls.
Main Results:
- Low mutant allele frequencies for the three main CARD15 variants were observed in both patient and control groups, with no significant differences.
- Specific rare variants (A755V and R791Q) were found in three aggressive periodontitis patients but not in controls.
- The frequencies of common CARD15 variants did not differ significantly between aggressive periodontitis patients and healthy individuals.
Conclusions:
- The study did not find an association between the three main CARD15 mutations and aggressive periodontitis susceptibility.
- Unlike in Crohn's disease, CARD15 gene variants do not appear to play a significant role in aggressive periodontitis.
- The clinical significance of rare CARD15 variants in aggressive periodontitis requires further investigation.
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.
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