Meta-analysis of genome-wide association studies of aggressive and chronic periodontitis identifies two novel risk loci

Matthias Munz, Gesa M. Richter, Bruno G. Loos, Søren Jepsen, Kimon Divaris, Steven Offenbacher, Alexander Teumer, Birte Holtfreter, Thomas Kocher, Corinna Bruckmann, Yvonne Jockel-Schneider, Christian Graetz, Ilyas Ahmad, Ingmar Staufenbiel, Nathalie van der Velde, André G. Uitterlinden, Lisette C.P.G.M. de Groot, Jürgen Wellmann, Klaus Berger, Bastian KronePer Hoffmann, Matthias Laudes, Wolfgang Lieb, Andre Franke, Jeanette Erdmann, Henrik Dommisch, Arne S. Schaefer*

*Corresponding author for this work
1 Citation (Scopus)


Periodontitis is one of the most common inflammatory diseases, with a prevalence of 11% worldwide for the severe forms and an estimated heritability of 50%. It is classified into the widespread moderate form chronic periodontitis (CP) and the rare early-onset and severe phenotype aggressive periodontitis (AgP). These different disease manifestations are thought to share risk alleles and predisposing environmental factors. To obtain novel insights into the shared genetic etiology and the underlying molecular mechanisms of both forms, we performed a two step-wise meta-analysis approach using genome-wide association studies of both phenotypes. Genotypes from imputed genome-wide association studies (GWAS) of AgP and CP comprising 5,095 cases and 9,908 controls of North-West European genetic background were included. Two loci were associated with periodontitis at a genome-wide significance level. They located within the pseudogene MTND1P5 on chromosome 8 (rs16870060-G, P = 3.69 × 10 −9 , OR = 1.36, 95% CI = [1.23–1.51]) and intronic of the long intergenic non-coding RNA LOC107984137 on chromosome 16, downstream of the gene SHISA9 (rs729876-T, P = 9.77 × 10 −9 , OR = 1.24, 95% CI = [1.15–1.34]). This study identified novel risk loci of periodontitis, adding to the genetic basis of AgP and CP.

Original languageEnglish
JournalEuropean Journal of Human Genetics
Issue number1
Pages (from-to)102-113
Number of pages12
Publication statusPublished - 01.01.2019

Research Areas and Centers

  • Research Area: Medical Genetics


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