Genetic polymorphism defines the presence of more than one inherited variant of a gene in a population. Polymorphisms that are functional, i.e. alter the synthesis, function or structure of the encoded proteins, could have significant impact at an individual level, by affecting the predisposition to certain disorders, or influencing the way one reacts to drugs. The presence of genetic polymorphisms can be determined by a simple procedure called genotyping, which requires small sample of genomic DNA obtained from any type of nucleus-containing cells. As genotype does not change over time, the results of genotyping are permanent, and the recommendations based on this analysis are valid for life.
Polymorphisms that are both functional and frequent in a population could have a significant impact at a population level as well, as they might influence the risk and the outcome of common diseases, including infectious ones, such as coronavirus disease 2019 (COVID-19). Genotyping for functional and frequent polymorphisms of genes relevant for COVID-19 in a population exposed to SARS-CoV-2 could help to determine genetic predictors of susceptibility to infection and the severe form of the disease, as well as to develop genetic-based algorithms for classification of individuals according to COVID-19-related risks.
SVETOVID-19 will look for and investigate the effect of the most frequent functional polymorphisms of the genes considered relevant for COVID-19, such as ACE2, TMPRSS2, FUR, CTSL, TLR3, TLR7, RIG-1, CD14, IFNλ3, IFNλ4, OAS1, IFITM3, TNF, IL6, IL10, CCL2, CCL5, CCR5, FCGR2A, and MAP1LC3B, on SARS-CoV-2 infection and COVID-19 outcome. Genotyping will be performed by real-time polymerase chain reaction using DNA extracted from the whole blood samples, the TaqMan Genotyping Master Mix and the corresponding TaqMan® SNP Genotyping Assays. Genetic data obtained in the study will be employed in developing an algorithm for early detection of individuals genetically predisposed to higher risk of SARS-CoV-2 infection, severe form of COVID-19, and COVID-19-related death.
