Abstract
SARS-CoV-2 uses the ACE2 receptor and the cellular protease TMPRSS2 for entry into target cells. The present study aimed to establish if the TMPRSS2 polymorphisms are associated with COVID-19 disease. The study included 609 patients with COVID-19 confirmed by RT-PCR test and 291 individuals negative for the SARS-CoV-2 infection confirmed by RT-PCR test and without antibodies anti-SARS-CoV-2. Four TMPRSS2 polymorphisms (rs12329760, rs2298659, rs456298, and rs462574) were determined using the 5’exonuclease TaqMan assays. Under different inheritance models, the rs2298659 ( p codominant2 = 0.018, p recessive = 0.006, p additive = 0.019), rs456298 ( p codominant1 = 0.014, p codominant2 = 0.004; p dominant = 0.009, p recessive = 0.004, p additive = 0.0009), and rs462574 ( p codominant1 = 0.017, p codominant2 = 0.004, p dominant = 0.041, p recessive = 0.002, p additive = 0.003) polymorphisms were associated with high risk of developing COVID-19. Two risks ( ATGC and GAAC ) and two protectives ( GAGC and GAGT ) haplotypes were detected. High levels of lactic acid dehydrogenase (LDH) were observed in patients with the rs462574 AA and rs456298 TT genotypes ( p = 0.005 and p = 0.020, respectively), whereas, high heart rate was present in patients with the rs462574 AA genotype ( p = 0.028). Our data suggest that the rs2298659, rs456298, and rs462574 polymorphisms independently and as haplotypes are associated with the risk of COVID-19. The rs456298 and rs462574 genotypes are related to high levels of LDH and heart rate.
Keywords: COVID-19 disease; SARS-CoV-2 infection; genetic susceptibility; polymorphisms; transmembrane serine protease-2 (TMPRSS2).
【저자키워드】 SARS-COV-2 infection, COVID-19 disease, Polymorphisms, genetic susceptibility, transmembrane serine protease-2 (TMPRSS2)., 【초록키워드】 COVID-19, SARS-CoV-2, TMPRSS2, antibody, Genetic, Infection, polymorphism, LDH, ACE2 receptor, risk, anti-SARS-CoV-2, Patient, Genotype, disease, Protective, Haplotype, exonuclease, RT-PCR test, high risk, target cells, Serine, lactic acid dehydrogenase, individual, transmembrane, cellular protease, dominant, risk of COVID-19, patients with COVID-19, TaqMan assays, the SARS-CoV-2, with COVID-19, 【제목키워드】 TMPRSS2, with COVID-19,