TY - JOUR
T1 - Aggressive periodontitis and NOD2 variants
AU - Mizuno, Noriyoshi
AU - Kume, Kodai
AU - Nagatani, Yukiko
AU - Matsuda, Shinji
AU - Iwata, Tomoyuki
AU - Ouhara, Kazuhisa
AU - Kajiya, Mikihito
AU - Takeda, Katsuhiro
AU - Matsuda, Yukiko
AU - Tada, Yui
AU - Ohsawa, Ryosuke
AU - Morino, Hiroyuki
AU - Mihara, Keichiro
AU - Fujita, Tsuyoshi
AU - Kawaguchi, Hiroyuki
AU - Shiba, Hideki
AU - Kawakami, Hideshi
AU - Kurihara, Hidemi
N1 - Funding Information:
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.
Publisher Copyright:
© 2020, The Author(s), under exclusive licence to The Japan Society of Human Genetics.
PY - 2020/10/1
Y1 - 2020/10/1
N2 - 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.
AB - 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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U2 - 10.1038/s10038-020-0777-z
DO - 10.1038/s10038-020-0777-z
M3 - Article
C2 - 32424308
AN - SCOPUS:85085014452
VL - 65
SP - 841
EP - 846
JO - Jinrui idengaku zasshi. The Japanese journal of human genetics
JF - Jinrui idengaku zasshi. The Japanese journal of human genetics
SN - 1434-5161
IS - 10
ER -