Maltese population study of TMPRSS2 variants

Abstract

Coronavirus disease of 2019, COVID-19, is a disease which originated from Wuhan, China in December 2019 and it is caused by a virus named severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The virus is able to enter the cell because the host cell transmembrane protease serine 2 (TMPRSS2) cleaves the S1/S2 site on the surface of the host cell and facilitates the fusion of the virus and the membrane of the host cell. TMPRSS2 variants can affect the expression of the protein in the cells and therefore could lead to different levels of susceptibility to COVID-19. In this study, a Maltese population study of various TMPRSS2 variants was carried out on random DNA samples in order to determine the frequencies of the variants chosen. Knowing the frequency of the identified variants will provide a base for further research to be done regarding the role of TMPRSS2 in the entry of SARS-CoV-2 into a host cell. The frequencies of the variants were determined by carrying out one of the three methods: PCR-RFLP analysis, Tetra-Primer ARMS assay, and real-time qPCR. For the variants rs2070788, rs383510, and rs75603675, the mutant allele was more common than the wild type allele; for the variants rs35074065, and rs12329760, the wild type allele was more common than the mutant allele; however, for the variant rs193920966, no mutant alleles were found in the Maltese population. This study can also lead to further research such as TMPRSS2 variant studies on positive COVID-19 samples.