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Robust Ligature-Induced Model of Murine Periodontitis for the Evaluation of Oral Neutrophils
Published on: January 21, 2020
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Association of NOD2 Mutations with Aggressive Periodontitis
T Sudo1,2, Y Okada1,3, K Ozaki4,5
11 Department of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Journal of Dental Research
|July 7, 2017
Summary
Genetic mutations in the NOD2 gene are linked to aggressive periodontitis, a condition causing rapid bone loss and early tooth loss. This discovery offers new insights into the genetic underpinnings of this severe gum disease.
Area of Science:
- Genetics
- Immunology
- Periodontology
Background:
- Aggressive periodontitis (AgP) involves rapid alveolar bone destruction and early tooth loss.
- The precise genetic causes of AgP remain largely unknown.
Purpose of the Study:
- To identify genetic risk factors contributing to aggressive periodontitis.
- To investigate the role of the NOD2 gene in AgP etiology.
Main Methods:
- Genome-wide single-nucleotide polymorphism genotyping and identity-by-descent mapping.
- Whole exome sequencing in AgP pedigrees.
- Targeted sequencing of the NOD2 gene in AgP patients.
Main Results:
- Identified 32 candidate loci for AgP.
- Discovered five novel or rare missense mutations in the NOD2 gene (p.Ala110Thr, p.Arg311Trp, p.His370Tyr, p.Arg459Cys, p.Ala868Thr).
- Found NOD2 mutations in a subset of AgP patients, suggesting its involvement.
Conclusions:
- NOD2 is implicated as a novel genetic factor in aggressive periodontitis.
- Mutations in NOD2 may disrupt innate immunity pathways relevant to periodontal health.
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