Genetic variants associated with susceptibility to SARS CoV 2 infection and severity of COVID 19 symptom

  1. AZCARATE IGARZA, DANIEL
Dirigida por:
  1. Marian Martínez de Pancorbo Gómez Directora
  2. Felix Olasagasti Arsuaga Director
  3. Marta Inés Saloña Bordas Director/a

Universidad de defensa: Universidad del País Vasco - Euskal Herriko Unibertsitatea

Fecha de defensa: 11 de enero de 2024

Tipo: Tesis

Teseo: 835383 DIALNET lock_openADDI editor

Resumen

Infection with the SARS-CoV-2 coronavirus results in COVID 19 disease, which is widespread and has significant impacts on public health and the workforce. The quest for indicators that can identify individuals with a heightened risk of SARS CoV 2 infection and the development of severe COVID 19 symptoms offers valuable insights into those most vulnerable to the virus.In the present study, a group of 21 S NPs situated within six genes known for their association with susceptibility to viral infections, along with 14 SNPs within nine genes linked to the severity of viral diseases, were examined. This investigation involved 465 patients residing in the Basque Country who contracted SARS CoV 2 between March 2020 and July 2021, as well as 150 control individuals from the same region who remained uninfected. The main objective of this project is to identify genetic markers that can be used to evaluate the likelihood of contracting SARS-CoV-2 and the seriousness of COVID 19 in the population. To carry out this objective, we conducted association analyses (AS) for each individual SNP to assess their connection with both susceptibility to SARS CoV 2 infection and the severity of COVID 19 disease. These AS have revealed that SNPs previously linked to susceptibility to infection also exhibit associations with disease severity, and conversely. Notably, some of these associations had not been previously reported, marking them as novel discoveries in this research. Considering that multiple SNPs are genetically linked, we conducted AS of haplotypes as well. This approach has been relatively underutilized in previous research within this domain. Given the broad reaching effects of SNPs associated with susceptibility and/or severity, coupled with the heightened robustness of association results derived from haplotype analyses, it became compelling to undertake the inference of descriptive. This innovative approach, centred on constructing descriptive models, has enabled us to pinpoint the most influential factors related to susceptibility and severity within the analysed sample. Consequently, this study has unveiled the most significant markers for assessing susceptibility and/or severity in a pre-pandemic context. Consequently, the combined analysis of these markers would facilitate effective infection prevention measures and an accurate approach to managing the preventive care of individuals already infected.