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Updated: Dec 21, 2025

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Aggressive periodontitis and NOD2 variants.

Noriyoshi Mizuno1, Kodai Kume2, Yukiko Nagatani3

  • 1Department of Periodontal Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan. mizuno@hiroshima-u.ac.jp.

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|May 20, 2020
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Summary

Two NOD2 gene variants were identified in 10% of aggressive periodontitis (AgP) patients, distinct from Crohn's disease variants. Further research is needed to understand NOD2's role in AgP.

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Area of Science:

  • Genetics
  • Immunology
  • Periodontology

Background:

  • Aggressive periodontitis (AgP) is an early-onset disease causing rapid periodontal destruction.
  • Nucleotide-binding oligomerization domain-containing protein 2 (NOD2) is involved in immune responses and linked to Crohn's disease.
  • Recent findings suggest NOD2 may be a causative gene in AgP.

Purpose of the Study:

  • To identify potential NOD2 gene variants in a cohort of patients with aggressive periodontitis.
  • To investigate the prevalence of specific NOD2 variants within familial and sporadic AgP groups.

Main Methods:

  • Genetic analysis of 101 patients diagnosed with aggressive periodontitis.
  • Sequencing to identify missense variants in the NOD2 gene.
  • Comparison of identified variants with known NOD2 variants associated with Crohn's disease.

Main Results:

  • Two distinct heterozygous missense NOD2 variants (c.C931T, p.R311W and c.C1411T, p.R471C) were identified in 10% of the AgP cohort.
  • The variant c.C931T was found in six patients from two families with a positive family history of AgP.
  • The variant c.C1411T was found in four sporadic AgP patients and is not previously associated with the disease.
  • Identified NOD2 variants differed from major variants linked to Crohn's disease.

Conclusions:

  • NOD2 gene variants may play a role in the pathogenesis of aggressive periodontitis.
  • The identified variants are distinct from those commonly associated with Crohn's disease.
  • Further investigation with larger cohorts is necessary to confirm the association and elucidate the specific role of NOD2 in AgP.