Speaker
Description
Genetic susceptibility plays a particularly important role in early-onset (EO) and severe periodontitis (PD). The genetic risk remains largely unexplained, due to limited sample sizes and heterogeneous phenotypes in genome-wide association studies (GWAS). This study investigates whether current GWAS data can be used to construct a polygenic score (PGS) capturing genetic susceptibility to severe PD. A PGS was developed in a three-step design, using a German EO-III/IV-C-PD GWAS (n=692 cases, ≤35 years at diagnosis) as the base dataset, a Spanish EO-III/IV-C-PD GWAS (n=441 cases) to optimize the score, and as validation a Dutch EO-III/IV-C-PD GWAS (n=171 cases) and a German population-based GWAS with later-onset PD (SHIP, n=2,941 cases). The PGS showed a trend toward association with disease status in the Spanish sample, but not in the smaller Dutch or in the SHIP dataset. Case-control distributions overlapped substantially. Genetic correlation analyses revealed no strong overlap with other associated traits. Our results indicate that current PGS models have limited case-control discriminative ability for PD. Larger, harmonized studies are needed to enhance genetic risk prediction and clarify pleiotropic relationships.
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