tetano
Editor, Senior Moderator
PLoS One
. 2022 Jan 7;17(1):e0260897.
doi: 10.1371/journal.pone.0260897. eCollection 2022.
Association of genetic variations in ACE2, TIRAP and factor X with outcomes in COVID-19
Marissa J M Traets[SUP] 1 [/SUP], Roel H T Nijhuis[SUP] 2 [/SUP], Servaas A Morré[SUP] 3 4 [/SUP], Sander Ouburg[SUP] 3 [/SUP], Jasper A Remijn[SUP] 5 [/SUP], Bastiaan A Blok[SUP] 1 [/SUP], Bas de Laat[SUP] 6 [/SUP], Eefje Jong[SUP] 1 [/SUP], Gerarda J M Herder[SUP] 7 [/SUP], Aernoud T L Fiolet[SUP] 1 [/SUP], Stephan P Verweij[SUP] 1 8 [/SUP]
Affiliations
Abstract
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.
. 2022 Jan 7;17(1):e0260897.
doi: 10.1371/journal.pone.0260897. eCollection 2022.
Association of genetic variations in ACE2, TIRAP and factor X with outcomes in COVID-19
Marissa J M Traets[SUP] 1 [/SUP], Roel H T Nijhuis[SUP] 2 [/SUP], Servaas A Morré[SUP] 3 4 [/SUP], Sander Ouburg[SUP] 3 [/SUP], Jasper A Remijn[SUP] 5 [/SUP], Bastiaan A Blok[SUP] 1 [/SUP], Bas de Laat[SUP] 6 [/SUP], Eefje Jong[SUP] 1 [/SUP], Gerarda J M Herder[SUP] 7 [/SUP], Aernoud T L Fiolet[SUP] 1 [/SUP], Stephan P Verweij[SUP] 1 8 [/SUP]
Affiliations
- PMID: 34995294
- DOI: 10.1371/journal.pone.0260897
Abstract
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.