Replicação da associação do rs79882996 no gene RANK com periodontite e análise epidemiológica endodôntica, com suporte da inteligência artificial, em uma mesma população

Abstract

Introduction: Periodontitis and apical periodontitis are multifactorial inflammatory diseases that result in bone resorption. In periodontitis, there is the destruction of the supporting tissues of the teeth. Environmental, behavioral, and especially genetic factors can influence its susceptibility and progression. Among the genes studied, RANK has stood out for its role in regulating bone remodeling. In apical periodontitis, there is resorption of periapical bone tissue, associated with infection and treated through endodontic therapy. Due to its frequently asymptomatic nature, screening by radiographs is essential, together with the analysis of the epidemiological profile of the population. In this scenario, artificial intelligence stands out as a promising tool in aiding diagnosis. Objective: To investigate genetic factors associated with periodontitis and epidemiological factors related to apical periodontitis and endodontic treatments in the same population. Material and Methods: The study included 527 adult individuals living in the Recôncavo Baiano, Bahia State, Brazil. Genotyping of rs79882996 was performed on 323 blood samples, using the GoTaq® Probe qPCR Master Mix kit (Promega) and TaqMan® SNP Genotyping Assays (Thermo Scientific™) probe, in a QuantStudio™ 12K Flex equipment (Applied Biosystems). Association analysis was conducted using the Plink 1.9 software, using multivariate logistic regression, with adjustment for age. Panoramic radiographs of all participants were analyzed to identify periapical lesions, endodontic treatment, or tooth absence, using the consensus of two experts and the AI software (DIO platform). A descriptive analysis of the population was performed and the diagnostic accuracy of the AI was evaluated using the parameters of sensitivity, specificity, positive predictive value, negative predictive value, accuracy, Receiver Operating Characteristic curves, and area under the curve. Results: rs79882996, located in the RANK gene, showed a significant association with periodontitis. In the additive model, each additional T allele was associated with a 64% increase in the chance of occurrence of periodontitis, while in the dominant model the presence of at least one T allele was associated with a 69% increase in the chance of developing the disease. The prevalence of periapical lesions was 30.85% and of endodontic treatments, 16.13%. The presence of these lesions was associated with worse oral health conditions. On the other hand, endodontic treatment was significantly related to higher education, higher income, previous guidance on oral hygiene, and flossing. In the diagnosis of periapical lesions, the area under the curve was 0.661 (95% CI = 0.606 – 0715), indicating low diagnostic accuracy on the part of AI; The sensitivity was 31.4%, the specificity 90.1%, the positive predictive value was 58.54%, while the negative predictive value reached 74.69%. AI showed high agreement with specialists in the identification of teeth with endodontic treatment (85.8%) and moderate agreement in the detection of periapical lesions (58.7%). Conclusion: This study reinforced the role of the RANK gene in periodontitis and highlighted its potential as a target for future therapies. In addition, this study showed the vulnerability of a population with limited access to dental treatment. AI has shown potential in tracking population oral health, but it still requires improvement, especially in the identification of periapical lesions.