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Aggressive periodontitis and NOD2 variants

Journal of Human Genetics volume 65, pages 841–846 (2020)Cite this article

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Abstract

Aggressive periodontitis (AgP) occurs at an early age and causes rapid periodontal tissue destruction. Nucleotide-binding oligomerization domain-containing protein 2 (NOD2) encodes a protein with two caspase recruitment domains and eleven leucine-rich repeats. This protein is expressed mainly in peripheral blood leukocytes and is involved in immune response. NOD2 variants have been associated with increased susceptibility to Crohn’s disease, and recently, NOD2 was reported as a causative gene in AgP. The present study aimed to identify potential NOD2 variants in an AgP cohort (a total of 101 patiens: 37 patients with positive family histories and 64 sporadic patients). In the familial group, six patients from two families had a reported heterozygous missense variant (c.C931T, p.R311W). Four patients in the sporadic group had a heterozygous missense variant (c.C1411T, p.R471C), with no reported association to the disease. Overall, two NOD2 variants, were identified in 10% of our AgP cohort. These variants were different from the major variants reported in Crohn’s disease. More cases need to be investigated to elucidate the role of NOD2 variants in AgP pathology.

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Acknowledgements

We thank Ms Eiko Nakajima for their technical assistance. This work was supported in part by the Japan Society for the Promotion of Science KAKENHI Grant-in-Aid for Scientific Research (No. 18H0297800), and the Takeda Science Foundation. We would like to thank Editage (www. editage.jp) for English language editing.

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Authors and Affiliations

  1. Department of Periodontal Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan

    Noriyoshi Mizuno, Shinji Matsuda, Tomoyuki Iwata, Kazuhisa Ouhara, Mikihito Kajiya, Tsuyoshi Fujita & Hidemi Kurihara

  2. Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan

    Kodai Kume, Yukiko Matsuda, Yui Tada, Ryosuke Ohsawa, Hiroyuki Morino & Hideshi Kawakami

  3. Department of Dental Hygiene, University of Shizuoka, Junior College, Shizuoka, Japan

    Yukiko Nagatani

  4. Department of Biological Endodontics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan

    Katsuhiro Takeda & Hideki Shiba

  5. International Regenerative Medical Center, Fujita Health University, Aichi, Japan

    Keichiro Mihara

  6. Department of General Dentistry, Hiroshima University Hospital, Hiroshima, Japan

    Hiroyuki Kawaguchi

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  1. Noriyoshi Mizuno
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Correspondence to Noriyoshi Mizuno.

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The authors declare that they have no conflict of interest.

Ethics approval and consent to participate

The study procedure was approved by the Ethics Committee of Hiroshima University. All tests were performed after obtaining written informed consent from all patients or their families. All procedures performed in studies involving human participants were in accordance with the ethical standards of the Human Subjects Committee of Hiroshima University, with the ethical standards of the Animal Experiment Committee of Hiroshima University, and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Mizuno, N., Kume, K., Nagatani, Y. et al. Aggressive periodontitis and NOD2 variants. J Hum Genet 65, 841–846 (2020). https://doi.org/10.1038/s10038-020-0777-z

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