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Better safe than sorry—Whole-genome sequencing indicates that missense variants are significant in susceptibility to COVID-19

Dawid Słomian, Joanna Szyda, Paula Dobosz, Joanna Stojak, Anna Michalska-Foryszewska, Mateusz Sypniewski, Jakub Liu, Krzysztof Kotlarz, Tomasz Suchocki, Magdalena Mroczek, Maria Stępień, Paweł Sztromwasser, Zbigniew Król

2023PLoS ONE15 citationsDOIOpen Access PDF

Abstract

Undoubtedly, genetic factors play an important role in susceptibility and resistance to COVID-19. In this study, we conducted the GWAS analysis. Out of 15,489,173 SNPs, we identified 18,191 significant SNPs for severe and 11,799 SNPs for resistant phenotype, showing that a great number of loci were significant in different COVID-19 representations. The majority of variants were synonymous (60.56% for severe, 58.46% for resistant phenotype) or located in introns (55.77% for severe, 59.83% for resistant phenotype). We identified the most significant SNPs for a severe outcome (in AJAP1 intron) and for COVID resistance (in FIG4 intron). We found no missense variants with a potential causal function on resistance to COVID-19; however, two missense variants were determined as significant a severe phenotype (in PM20D1 and LRP4 exons). None of the aforementioned SNPs and missense variants found in this study have been previously associated with COVID-19.

Topics & Concepts

Missense mutationSingle-nucleotide polymorphismGeneticsBiologyPhenotypeGenome-wide association studySNPIntronExonGenotypeGeneinterferon and immune responsesSARS-CoV-2 and COVID-19 ResearchRNA modifications and cancer
Better safe than sorry—Whole-genome sequencing indicates that missense variants are significant in susceptibility to COVID-19 | Litcius