Banca de QUALIFICAÇÃO: MARIA GABRIELA SOUZA FANTIN

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
STUDENT : MARIA GABRIELA SOUZA FANTIN
DATE: 27/08/2024
TIME: 09:00
LOCAL: Sala Virtual Remota https://bit.ly/RequalifMSc_GabrielaFantin_PGBIOEXP
TITLE:

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KEY WORDS:

COVID-19, GWAS, symptomatic, oligosymptomatic/asymptomatic, and SNPs.

PAGES: 115
BIG AREA: Ciências Biológicas
AREA: Biologia Geral
SUMMARY:

The COVID-19 pandemic has presented significant challenges to healthcare systems worldwide, including increased demand for health services, hospital overload, and socioeconomic impacts. Some risk factors for increased disease severity are currently well-established, such as advanced age, male gender, and high body mass index. However, these variables do not fully explain the variability of the disease. Previous studies on rare polymorphisms associated with loss of function in genes involved in the immune response have identified genetic markers related to the development of severe forms of COVID-19. However, the number of Brazilian samples analyzed in these studies is limited. The aim of this study is to analyze human genetic factors in a large-scale genotyping strategy on COVID-19 susceptibility. The study has ethical approval from CEP/CEPEM. The biorepository of this retrospective-prospective study is constituted of samples from a previous study, from which a total of 64 capillary blood samples stored on filter paper were selected, 42 of which were from symptomatic participants and 22 from oligo/asymptomatic individuals for COVID-19. The extracted DNA was sent to Mendelics for hybridization methodology using the Infinium Global Screening Array-24 BeadChip® version 3.0 (Illumina®), in which 654,000 SNPs can be identified per sample. In the partial data analysis, both SNPs associated with increased risk of reported infection, hospitalization, and disease severity, compiled by the HGI in 65 SNPs, as well as SNPs related to COVID-19 susceptibility proposed by Eshetie and collaborators (2023), totaling 49 SNPs, were used as references to develop a database on the genotype distribution of the population. Since 6 SNPs were coincident in both references, the partial analysis was conducted with a total of 108 SNPs in the population, currently consisting of 10 samples from symptomatic individuals and 18 from oligo/asymptomatic individuals. GenomeStudio Software was used for the analysis of intensity data from 28 participants, allowing the tracking of 17 out of the 108 SNPs, located in the following loci most frequently associated with the outcomes analyzed in this study: 1q21.3, 2p16.1, 3p21.31, 4p15.2, 4q24, 6p21.1, 6p21.32, 9p21.3, 9q34.2, 11p15.5, 19p13.2, 19p13.3. To assess genotype frequency, quality control was performed along with clustering presented in polar coordinates where the X-axis is the normalized θ, calculated as θ = 2/πarctan(1/AB), and the Y-axis is the normalized R, calculated as R = A + B, to gauge the genotypic distribution according to the comparison groups: symptomatic, asymptomatic, oligosymptomatic. Genotypes associated with greater disease severity were observed in 43.75% (28/64) of the general study population. Among the symptomatic individuals, the frequency was 53% (9/17), while among the oligo/asymptomatic individuals, this estimate was 59% (10/17). These estimates highlight differentiated patterns in genotypic distribution between symptomatic and oligosymptomatic/asymptomatic groups, suggesting possible associations between certain SNPs and the clinical manifestation of COVID-19.

COMMITTEE MEMBERS:
Externa à Instituição - ANA CAROLINA RAMOS GUIMARÃES - FIOCRUZ
Presidente - ***.265.191-** - DEUSILENE SOUZA VIEIRA - UNIR
Externa à Instituição - RAQUEL DA HORA BARBOSA - UFF