18-12-2025
Preterm birth (PTB) and periodontitis (PD) are inflammatory conditions traditionally treated as unrelated. This thesis, entitled "Towards understanding of genetic susceptibility linking preterm birth and periodontitis", a collaboration between the Human Genetics and Cancer Therapeutic Lab @DCV-UCIBIO and the Centro de Investigação Interdisciplinar Egas Moniz, explored whether they share a common genetic susceptibility to inflammatory dysregulation rather than a direct causal link. A case–control study in a Portuguese cohort analyzed 73 inflammatory-related genetic variants. KCNN3 variants (rs1218585, rs1218584) were associated with spontaneous PTB, while IL1RN rs4251961 showed a novel association with PD. Analysis of a combined PTB–PD inflammatory phenotype revealed an association with TLR1 rs5743618, supporting shared inflammatory risk. Despite limited sample size, the findings suggest a common genetic predisposition underlying PTB and PD, contributing to understanding inflammatory-driven diseases and informing future prevention strategies.
Congratulations, Joana!