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Robust Ligature-Induced Model of Murine Periodontitis for the Evaluation of Oral Neutrophils
Published on: January 21, 2020
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Genetic Loci Associated With Periodontitis: The FinnGen Study Based on National Health Registers
Aino Salminen1, Kati Hyvärinen2, Jarmo Ritari2
1Oral and Maxillofacial Diseases, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Journal of Clinical Periodontology
|July 19, 2025
Summary
This genome-wide association study identified 11 genetic loci linked to periodontitis in Finnish individuals. Genetic variations, particularly in the HLA region, are strongly associated with immune dysregulation in periodontitis pathogenesis.
Area of Science:
- Genetics
- Periodontology
- Immunology
Background:
- Periodontitis is a complex disease with known genetic contributions.
- Understanding genetic factors is crucial for elucidating disease mechanisms.
Purpose of the Study:
- To conduct a genome-wide association study (GWAS) for periodontitis within the large FinnGen cohort.
- To identify novel genetic loci associated with periodontitis risk.
Main Methods:
- Utilized data from nearly 250,000 Finnish individuals with dental examination records.
- Defined three distinct periodontitis phenotypes using national health register data (diagnosis codes, procedure codes, CPI).
- Performed GWAS analysis and validated findings in discovery and replication cohorts.
Main Results:
- Identified 11 independent genetic loci associated with periodontitis, including 6 novel loci.
- Significant associations were found near genes such as FST, ARL15, MFHAS1, DEFB130A, and APOE.
- Strong associations were observed in the HLA region, with specific HLA alleles (HLA-DRB1, HLA-DPB1, HLA-DQA1) linked to periodontitis.
- Gene expression analysis revealed enrichment in gingival cell lineages relevant to periodontitis pathogenesis.
- Phenotypic and genetic correlations indicated links between periodontitis and bacterial diseases, autoimmune, and cardiometabolic traits.
Conclusions:
- Genetic variations influencing immune dysregulation play a role in periodontitis pathogenesis.
- Periodontitis shares significant genetic overlap with other complex systemic traits.
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