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Identification of Potential Genetic Biomarkers of the inflammation Network and Their Risks of Developing Dyspnea Post-COVID-19

Name: VINICIUS DO PRADO VENTORIM

Publication date: 24/02/2025

Examining board:

Namesort descending Role
DEBORA DUMMER MEIRA Coorientador
ELIZEU FAGUNDES DE CARVALHO Examinador Externo
FLAVIA DE PAULA Examinador Interno
IURI DRUMOND LOURO Presidente

Summary: The study aimed to identify genetic biomarkers associated with the progression of dyspnea in individuals post-COVID-19. After approval by the Research Ethics Committee (CEP), a case-control study was conducted with the participation of 277 individuals. Participants were selected based on clinical and epidemiological criteria, allowing a representative sample of the study population. For genetic analysis, whole exome sequencing was performed, which allowed the identification of genetic variants
potentially associated with the clinical outcome. In addition, rigorous statistical methodologies were applied to select the most relevant variants, focusing on determining the allelic risk for the progression of dyspnea. The prevalence of dyspnea among participants was 15.16%, reinforcing the importance of investigating genetic factors that may influence its manifestation. Eleven genetic variants with p-values lower than 0.05 were identified, suggesting a statistically significant association with the risk of dyspnea progression. The identified variants are located in 10 genes that play key roles in the immune system, in the regulation of vascular hemostasis, and in the response to epithelial damage. These findings indicate that genetic predisposition may be involved in the persistence of dyspnea in individuals who have overcome the acute phase of COVID-19. Gene analysis revealed a strong correlation with essential biological processes in the inflammatory response and tissue recovery. The immune system plays a central role in regulating the persistent inflammation observed in some post-COVID-19 individuals, and may influence the maintenance of chronic cardiorespiratory symptoms. Vascular hemostasis, in turn, may be associated with coagulation disorders previously described in patients with COVID-19, impacting pulmonary perfusion and contributing to dyspnea. Genes related to epithelial damage are possibly involved in lung tissue repair, being decisive for the functional recovery of the organ after infection. These results provide important directions for future clinical and epidemiological research in the State of Espírito Santo (Brazil). The identification of genetic biomarkers can help in the risk stratification of patients, allowing for more personalized and targeted therapeutic approaches. Furthermore, the findings reinforce the need for further investigations to understand the mechanisms by which these genetic variants influence the evolution of post-COVID-19 dyspnea. Furthermore, the study contributed to the expansion of knowledge about the sequelae of COVID-19 and its genetic bases, highlighting the importance of the integration between genomics and epidemiology for the development of public health strategies. Based on these findings,
it is expected that further research can validate the identified biomarkers and deepen the understanding of the genetic factors involved in the recovery of post-COVID-19 patients. This approach may, in the future, lead to the development of more effective
interventions to mitigate the impacts of persistent dyspnea on the quality of life of affected individuals.

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