Since the first onset in 2019, covid-19 has had a major impact on the global population. It led to accelerated research, as scientists wanted to tackle risk factors involved in the disease's severity. They found that genetic changes play a substantial role in the course of the disease. For example, the rs1405655 polymorphism in the NR1H2 has been identified in the literature as a risk factor for severe neurological symptoms and, thus consequently, a more severe course of the disease. The polymorphism rs721917 in the SFTPD is associated with the penetration of the virus into the host cell by binding to the receptor for the angiotensin convertase 2. The polymorphism rs117169628 in the SLC22A31 has been associated with the co-regulation of transmembrane proteins and the consequent mediation of entry through the membrane. The rs67579710 polymorphism in the THBS3 has been related to the occurrence of thrombosis during the disease. A correlation between the polymorphism rs71325088 in the LZTFL1 and the entry of the virus through lung epithelial cells has been observed in the literature. The master’s thesis aimed to determine whether selected polymorphisms influence the severity of covid-19 in Slovenian patients who have overcome this disease. First, we isolated DNA from the whole venous blood of 106 patients who had recovered from covid-19. The samples were divided into three groups according to the severity of the disease - mild, moderate, and severe course, and genotyped. For the analysis of the first four polymorphisms (rs1405655, rs721917, rs117169628, and rs67579710), we used hydrolysis probes, while a high-resolution melting curve was used for detecting the polymorphism rs71325088. When analyzing the results, we calculated the frequencies of variant alleles in the Slovenian populations and compared them with the frequencies in other European and worldwide populations. We determined lower frequencies for polymorphisms rs1405655, rs721917, and rs67579710 compared to the European and worldwide populations. In contrast, for the polymorphisms rs117169628 and rs71325088, we determined a higher allele frequency than the European and worldwide populations. When analyzing the correlation between the occurrence of the polymorphism and the severity of the disease in the Slovenian population, we discovered that polymorphism rs11769628 may have a protective role. We did not find any significant associations between the other polymorphisms and the course of covid-19. The findings of this study are important, as they represent the basis for future studies that could help to translate these findings into clinical practice. At the same time, they represent the first description of covid-19-related polymorphisms in the Slovenian population.
|