Background Coronavirus disease 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), can manifest with varying disease severity and mortality. Genetic predisposition influences the clinical course of infectious diseases. We investigated whether genetic polymorphisms in candidate genes ACE2 , TIRAP , and factor X are associated with clinical outcomes in COVID-19. Methods We conducted a single-centre retrospective cohort study. All patients who visited the emergency department with SARS-CoV-2 infection proven by polymerase chain reaction were included. Single nucleotide polymorphisms in ACE2 (rs2285666), TIRAP (rs8177374) and factor X (rs3211783) were assessed. The outcomes were mortality, respiratory failure and venous thromboembolism. Respiratory failure was defined as the necessity of >5 litres/minute oxygen, high flow nasal oxygen suppletion or mechanical ventilation. Results Between March and April 2020, 116 patients (35% female, median age 65 [inter quartile range 55–75] years) were included and treated according to the then applicable guidelines. Sixteen patients (14%) died, 44 patients (38%) had respiratory failure of whom 23 required endotracheal intubation for mechanical ventilation, and 20 patients (17%) developed venous thromboembolism. The percentage of TIRAP polymorphism carriers in the survivor group was 28% as compared to 0% in the non-survivor group (p = 0.01, Bonferroni corrected p = 0.02). Genotype distribution of ACE2 and factor X did not differ between survivors and non-survivors. Conclusion This study shows that carriage of TIRAP polymorphism rs8177374 could be associated with a significantly lower mortality in COVID-19. This TIRAP polymorphism may be an important predictor in the outcome of COVID-19.
【초록키워드】 COVID-19, SARS-CoV-2, Coronavirus disease 2019, ACE2, coronavirus, Diseases, Respiratory failure, Mortality, mechanical ventilation, SARS-COV-2 infection, disease severity, rs2285666, polymorphism, oxygen, outcome, Venous Thromboembolism, Clinical outcome, Clinical course, Single nucleotide polymorphism, female, Patient, respiratory, distribution, Genetic polymorphism, candidate gene, Endotracheal intubation, retrospective cohort study, Non-survivors, acute respiratory syndrome, median age, tirap, predisposition, carrier, significantly lower, survivor, quartile, non-survivor, polymerase chain, Result, defined, not differ, caused, died, investigated, required, conducted, treated, influence, nasal oxygen, were assessed, 【제목키워드】 COVID-19, ACE2, outcome, Genetic variation, tirap,