Identification and Analyses of Variants Associated with Covid-19 from Non-Invasive Prenatal Testing in Slovak Population

Since December 2019, coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has rapidly spread throughout the world and caused a large global pandemic which drastically changed our everyday lives. As the COVID-19 pandemic progressed, a number of its characteristics showed enormous inter-individual and inter-population differences. Earlier genome-wide association studies (GWAS) have identified potential key genes and genetic variants associated with the risk and prognosis of COVID-19, but the underlying biological interpretation is largely unclear. Our previous work described genomic data generated through non-invasive prenatal testing (NIPT) based on low-coverage massively parallel whole-genome sequencing of total plasma DNA of pregnant women in Slovakia as a valuable source of population specific data. In the present study, we have performed a literature search of studies and used NIPT data to determine the population allele frequency of risk COVID-19 variants that have been reported in GWAS studies to date. We also focused on variants located in the ACE2 gene, encoding angiotensin-converting enzyme 2 (ACE2), which is hypothesized to be a possible genetic risk factor for SARS-CoV-2 infection. Allele frequencies of identified variants were compared with six world populations from the gnomAD database to detect significant differences between populations. We interpreted variants and searched for functional consequences and clinical significance of variants using publicly available databases. Finally, 2 COVID-19 risk variants were found that showed statistically significant differences in population allele frequencies - rs383510 and rs1801274. Copyright © 2021 for this paper by its authors.