Association between single-nucleotide polymorphisms of ADAMTS13 and severe COVID-19: a case-control study in Chinese Han adults

The coronavirus disease 2019 (COVID-19) epidemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), poses unprecedented challenges to global healthcare systems.As of 13 October 2024, over 776 million confirmed cases and over 7 million deaths have been reported globally [1].The main manifestations of COVID-19 are fever, cough and weakness [2], and acute hypoxic respiratory failure is a common and more serious complication of severe COVID-19 (SCOVID-19), the mortality rate of which can be as high as 45% [3].Autopsies of patients who died from COVID-19 showed a high rate of microthrombus formation in the pulmonary capillaries [4], which might explain the prominent hypoxemia in SCOVID-19 patients.Coagulation dysfunction is thought to occur throughout the pathogenesis of SCOVID-19, with studies confirming the presence of thrombocytopenia and increased D-dimer aggregates in up to 57.7% and 59.6% of patients with SCOVID-19, respectively [5].As a key regulatory gene in the coagulation system, ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motif, member 13) encoded by the ADAMTS13 gene is an enzyme produced in the liver whose main function is to regulate the size of von Willebrand factor (VWF), thereby avoiding unnecessary platelet aggregation and thrombosis [6].Genome-wide association studies have revealed that some genetic variations are associated with an increased risk of SCOVID-19.For example, research has found that the gene group on chromosome 3p21.31 is associated with worsening COVID-19 symptoms [7].ADAMTS13 has been shown to play a critical role in the development of thromboembolism in SCOVID-19.In addition to inflammation-induced inhibition of ADAMTS13 activity in SCOVID-19 [8], the host genetic determinants of this susceptibility to ADAMTS13 are still unclear, especially in the Han Chinese population.The aim of this study was to investigate whether ADAMTS13 single nucleotide polymorphisms (SNPs) are associated with SCOVID-19 in the Chinese Han population and compared with severe pneumonia due to pathogens other than SARS-CoV-2 (non-S-SP).Methods.The study followed a case-control design and included 370 severe pneumonia (SP) patients and 500 healthy controls from January 1 to September 30, 2023.The sample size was calculated using PASS15, and the sample size of the two groups in the study was sufficient.The participants or their guardians received detailed study information and

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Journal
Archives of Medical Science
Published
2024-12-31
DOI
https://doi.org/10.5114/aoms/199514
Primary Topic
SARS-CoV-2 and COVID-19 Research
Type
article
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article

Association between single-nucleotide polymorphisms of ADAMTS13 and severe COVID-19: a case-control study in Chinese Han adults

Jian‐Qing He, Daoyan Tang, Xiaoshu Liu
Archives of Medical Science
SARS-CoV-2 and COVID-19 Research
article

Association between single-nucleotide polymorphisms of ADAMTS13 and severe COVID-19: a case-control study in Chinese Han adults

Jian‐Qing He, Daoyan Tang, Xiaoshu Liu
article en

Abstract

The coronavirus disease 2019 (COVID-19) epidemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), poses unprecedented challenges to global healthcare systems.As of 13 October 2024, over 776 million confirmed cases and over 7 million deaths have been reported globally [1].The main manifestations of COVID-19 are fever, cough and weakness [2], and acute hypoxic respiratory failure is a common and more serious complication of severe COVID-19 (SCOVID-19), the mortality rate of which can be as high as 45% [3].Autopsies of patients who died from COVID-19 showed a high rate of microthrombus formation in the pulmonary capillaries [4], which might explain the prominent hypoxemia in SCOVID-19 patients.Coagulation dysfunction is thought to occur throughout the pathogenesis of SCOVID-19, with studies confirming the presence of thrombocytopenia and increased D-dimer aggregates in up to 57.7% and 59.6% of patients with SCOVID-19, respectively [5].As a key regulatory gene in the coagulation system, ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motif, member 13) encoded by the ADAMTS13 gene is an enzyme produced in the liver whose main function is to regulate the size of von Willebrand factor (VWF), thereby avoiding unnecessary platelet aggregation and thrombosis [6].Genome-wide association studies have revealed that some genetic variations are associated with an increased risk of SCOVID-19.For example, research has found that the gene group on chromosome 3p21.31 is associated with worsening COVID-19 symptoms [7].ADAMTS13 has been shown to play a critical role in the development of thromboembolism in SCOVID-19.In addition to inflammation-induced inhibition of ADAMTS13 activity in SCOVID-19 [8], the host genetic determinants of this susceptibility to ADAMTS13 are still unclear, especially in the Han Chinese population.The aim of this study was to investigate whether ADAMTS13 single nucleotide polymorphisms (SNPs) are associated with SCOVID-19 in the Chinese Han population and compared with severe pneumonia due to pathogens other than SARS-CoV-2 (non-S-SP).Methods.The study followed a case-control design and included 370 severe pneumonia (SP) patients and 500 healthy controls from January 1 to September 30, 2023.The sample size was calculated using PASS15, and the sample size of the two groups in the study was sufficient.The participants or their guardians received detailed study information and

Archives of Medical ScienceVol. 20(6)
University of Electronic Science and Technology of China (CN), Sichuan University (CN), West China Hospital of Sichuan University (CN)
Department of Science and Technology of Sichuan Province
Openalex Percentile: Top 69%
SARS-CoV-2 and COVID-19 Research
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