GENETIC PREDISPOSITION TO PERIODONTITIS EXTENDS FROM INDIVIDUAL POLYMORPHISMS TO POLYGENIC RISK MODELS

Abstract

Genetic predisposition interacts with immune, microbial, behavioral factors in periodontitis, a common multifactorial disease. Variations in diagnostic criteria, study population characteristics, approaches to phenotyping the disease have complicated comparisons of genetic markers. The study aimed to systematize, critically evaluate current data on genetic predisposition to periodontitis, trace the shift from studying individual candidate gene polymorphisms to polygenic risk models, assess the prospects of using these models to predict disease onset, progression. An analytical literature review formed the basis of this work, incorporating a systematic search, critical qualitative assessment of relevant scientific publications. The analysis revealed that individual candidate gene polymorphisms–including variants associated with cytokines, innate immunity, antimicrobial defense, and bone remodeling–failed to show consistent reproducibility across different populations. While genome-wide association studies (GWAS) identified new genetic loci, no single variant common to all studied cohorts was found to serve as a universal risk marker. Polygenic risk scores emerged as a more promising approach by accounting for the cumulative contribution of multiple genetic variants; however, their clinical utility remained dependent on population ethnicity, the characteristics of the original GWAS, and the quality of external validation. Limitations in the evidence base included phenotypic heterogeneity, variations in sample size and composition, and differences in genotyping methods and statistical approaches. The study concludes that polygenic models should not be used as standalone diagnostic tools but rather as part of a comprehensive assessment integrating both genetic and clinical risk factors.