Translation of mouse model to human gives insights into periodontitis etiology

Aysar Nashef, Munz Matthias, Ervin Weiss, Bruno G. Loos, Søren Jepsen, Nathalie van der Velde, André G. Uitterlinden, Jürgen Wellmann, Klaus Berger, Per Hoffmann, Matthias Laudes, Wolfgang Lieb, Andre Franke, Henrik Dommisch, Arne Schäfer, Yael Houri-Haddad*, Fuad A. Iraqi

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    12 Scopus citations


    To suggest candidate genes involved in periodontitis, we combined gene expression data of periodontal biopsies from Collaborative Cross (CC) mouse lines, with previous reported quantitative trait loci (QTL) in mouse and with human genome-wide association studies (GWAS) associated with periodontitis. Periodontal samples from two susceptible, two resistant and two lines that showed bone formation after periodontal infection were collected during infection and naïve status. Differential expressed genes (DEGs) were analyzed in a case-control and case-only design. After infection, eleven protein-coding genes were significantly stronger expressed in resistant CC lines compared to susceptible ones. Of these, the most upregulated genes were MMP20 (P = 0.001), RSPO4 (P = 0.032), CALB1 (P = 1.06×10−4), and AMTN (P = 0.05). In addition, human orthologous of candidate genes were tested for their association in a case-controls samples of aggressive (AgP) and chronic (CP) periodontitis (5,095 cases, 9,908 controls). In this analysis, variants at two loci, TTLL11/PTGS1 (rs9695213, P = 5.77×10−5) and RNASE2 (rs2771342, P = 2.84×10−5) suggested association with both AgP and CP. In the association analysis with AgP only, the most significant associations were located at the HLA loci HLA-DQH1 (rs9271850, P = 2.52×10−14) and HLA-DPA1 (rs17214512, P = 5.14×10−5). This study demonstrates the utility of the CC RIL populations as a suitable model to investigate the mechanism of periodontal disease.

    Original languageAmerican English
    Article number4892
    JournalScientific Reports
    Issue number1
    StatePublished - 1 Dec 2020

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