Genetic architecture of chronic periodontitis: a modern view on the problem

Background. Chronic periodontitis is a complex, multifactorial inflammatory disease. According to fundamental twin studies, the contribution of hereditary factors to the variability in disease severity reaches 50%. Despite this, the integration of genetic data into clinical practice remains challenging, necessitating a revision of outdated diagnostic paradigms and a search for new risk stratification tools.

Objective: to systematize current data on the genetic architecture of chronic periodontitis, analyze the efficacy of various methodological approaches (from candidate genes to genome-wide association studies), and determine the role of polygenic risk scores (PRS) in the development of precision periodontology.

Methods. A search for original studies and systematic reviews was conducted in the PubMed, Scopus, and Web of Science databases. The search was performed using the following keywords: «chronic periodontitis», «genetics», «GWAS», «polygenic risk score», and their Russian equivalents. The analysis primarily included publications from 2010–2025, reflecting the current stage of genetic research, excluding conference abstracts and studies focused exclusively on aggressive forms of periodontitis.

Results. The «classical» candidate gene approach has revealed numerous associations; however, it has demonstrated low reproducibility and pronounced ethnic specificity, thereby limiting its clinical application. The introduction of genome-wide association studies (GWAS) has shifted the pathogenetic paradigm by identifying new loci (e.g., DEFA1A3, SIGLEC5) that show high reproducibility in independent studies. These findings suggest that the primary cause of the disease may involve not only hyperinflammation mechanisms but also defects in innate immunity. Furthermore, it has been shown that a critical prerequisite for successful genetic research is the transition from binary «casecontrol» phenotyping to the analysis of disease Grade — the rate of tissue destruction progression. The construction of polygenic risk scores (PRS) based on GWAS data has allowed for overcoming the limitations of single genetic marker analysis. The main advantage of PRS is its high predictive value and the capacity for quantitative risk stratification, the accuracy of which reaches its maximum when predicting severe forms of periodontitis.

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