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Related Experiment Video

Updated: Feb 27, 2026

Robust Ligature-Induced Model of Murine Periodontitis for the Evaluation of Oral Neutrophils

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Published on: January 21, 2020

Association of NOD2 Mutations with Aggressive Periodontitis.

T Sudo^1,2, Y Okada^1,3, K Ozaki^4,5

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

This summary is machine-generated.

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.

Keywords:

IBD mapping genetic epidemiology innate immunity rare variant targeted sequencing whole exome sequencing

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Last Updated: Feb 27, 2026

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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.