Expression of periodontitis susceptibility genes in human gingiva using single-cell RNA sequencing

Ana J. Caetano, Eleanor M. D'Agostino, Paul Sharpe, Luigi Nibali*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


Objective: Single-cell transcriptomics was used to determine the possible cell-type specificity of periodontitis susceptibility genes. Background: The last decade has witnessed remarkable advances in the field of human genomics. Despite many advances, the genetic factors associated with or contributing to the periodontitis pathogenesis have only been identified to a limited extent and are often poorly validated. Confirming whether a given single nucleotide polymorphism has an association with periodontitis requires a robust mechanistic explanation on the functional consequences of a given genetic variant. Methods: We globally assessed the expression of 26 disease-associated genes identified by GWAS within the gingival mucosa. A total of 12 411 cells from 4 different donors were analysed. Differentially expressed genes were analysed using Seurat, a non-parametric Wilcoxon rank sum test. The minimum threshold for significance was defined as p <.05. Results: This exploration at a cellular-level suggests diverse populations contributing to disease pathogenesis, with macrophages expressing a higher number of the analysed disease-associated genes. IL1B, PTGS2, FCGR2A, IL10 and IL1A specifically showed a more restricted expression in the myeloid lineages. Conclusion: This short report combines human genetics and single-cell genomics to better understand periodontitis by mapping variants to predict their cells of action and putative functions. These findings seem to suggest that innate cell dysfunction is linked to disease susceptibility.

Original languageEnglish
Pages (from-to)1210-1218
Number of pages9
JournalJournal of Periodontal Research
Issue number6
Publication statusPublished - Dec 2022


  • genetics
  • pathogenesis
  • periodontitis
  • single-cell RNA sequencing


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