Initial study on TMPRSS2 p.Val160Met genetic variant in COVID-19 patients
Abstract Background Coronavirus disease 2019 (COVID-19) is a global health problem that causes millions of deaths worldwide. The clinical manifestation of COVID-19 widely varies from asymptomatic infection to severe pneumonia and systemic inflammatory disease. It is thought that host genetic variabi...
| Main Authors: | , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2021-05-01
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| Series: | Human Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s40246-021-00330-7 |
| _version_ | 1811185879070277632 |
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| author | Laksmi Wulandari Berliana Hamidah Cennikon Pakpahan Nevy Shinta Damayanti Neneng Dewi Kurniati Christophorus Oetama Adiatmaja Monica Rizky Wigianita Soedarsono Dominicus Husada Damayanti Tinduh Cita Rosita Sigit Prakoeswa Anang Endaryanto Ni Nyoman Tri Puspaningsih Yasuko Mori Maria Inge Lusida Kazufumi Shimizu Delvac Oceandy |
| author_facet | Laksmi Wulandari Berliana Hamidah Cennikon Pakpahan Nevy Shinta Damayanti Neneng Dewi Kurniati Christophorus Oetama Adiatmaja Monica Rizky Wigianita Soedarsono Dominicus Husada Damayanti Tinduh Cita Rosita Sigit Prakoeswa Anang Endaryanto Ni Nyoman Tri Puspaningsih Yasuko Mori Maria Inge Lusida Kazufumi Shimizu Delvac Oceandy |
| author_sort | Laksmi Wulandari |
| collection | DOAJ |
| description | Abstract Background Coronavirus disease 2019 (COVID-19) is a global health problem that causes millions of deaths worldwide. The clinical manifestation of COVID-19 widely varies from asymptomatic infection to severe pneumonia and systemic inflammatory disease. It is thought that host genetic variability may affect the host’s response to the virus infection and thus cause severity of the disease. The SARS-CoV-2 virus requires interaction with its receptor complex in the host cells before infection. The transmembrane protease serine 2 (TMPRSS2) has been identified as one of the key molecules involved in SARS-CoV-2 virus receptor binding and cell invasion. Therefore, in this study, we investigated the correlation between a genetic variant within the human TMPRSS2 gene and COVID-19 severity and viral load. Results We genotyped 95 patients with COVID-19 hospitalised in Dr Soetomo General Hospital and Indrapura Field Hospital (Surabaya, Indonesia) for the TMPRSS2 p.Val160Met polymorphism. Polymorphism was detected using a TaqMan assay. We then analysed the association between the presence of the genetic variant and disease severity and viral load. We did not observe any correlation between the presence of TMPRSS2 genetic variant and the severity of the disease. However, we identified a significant association between the p.Val160Met polymorphism and the SARS-CoV-2 viral load, as estimated by the Ct value of the diagnostic nucleic acid amplification test. Furthermore, we observed a trend of association between the presence of the C allele and the mortality rate in patients with severe COVID-19. Conclusion Our data indicate a possible association between TMPRSS2 p.Val160Met polymorphism and SARS-CoV-2 infectivity and the outcome of COVID-19. |
| first_indexed | 2024-04-11T13:36:43Z |
| format | Article |
| id | doaj.art-adc6a04d656a41b89f29e5aad7d2bc1c |
| institution | Directory Open Access Journal |
| issn | 1479-7364 |
| language | English |
| last_indexed | 2024-04-11T13:36:43Z |
| publishDate | 2021-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Human Genomics |
| spelling | doaj.art-adc6a04d656a41b89f29e5aad7d2bc1c2022-12-22T04:21:26ZengBMCHuman Genomics1479-73642021-05-011511910.1186/s40246-021-00330-7Initial study on TMPRSS2 p.Val160Met genetic variant in COVID-19 patientsLaksmi Wulandari0Berliana Hamidah1Cennikon Pakpahan2Nevy Shinta Damayanti3Neneng Dewi Kurniati4Christophorus Oetama Adiatmaja5Monica Rizky Wigianita6Soedarsono7Dominicus Husada8Damayanti Tinduh9Cita Rosita Sigit Prakoeswa10Anang Endaryanto11Ni Nyoman Tri Puspaningsih12Yasuko Mori13Maria Inge Lusida14Kazufumi Shimizu15Delvac Oceandy16Department of Pulmonology and Respiratory Medicine, Faculty of Medicine, Universitas Airlangga/Dr Soetomo General Academic HospitalDepartment of Biomedical Sciences, Faculty of Medicine, Universitas AirlanggaDepartment of Biomedical Sciences, Faculty of Medicine, Universitas AirlanggaIndrapura KOGABWILHAN II HospitalDepartment of Medical Microbiology, Faculty of Medicine, Universitas Airlangga/Clinical Microbiology Unit, Central Laboratory Installation, Dr Soetomo General Academic HospitalFaculty of Medicine, Universitas AirlanggaFaculty of Medicine, Universitas AirlanggaDepartment of Pulmonology and Respiratory Medicine, Faculty of Medicine, Universitas Airlangga/Dr Soetomo General Academic HospitalDepartment of Child Health, Faculty of Medicine, Universitas Airlangga/Dr Soetomo General Academic HospitalDepartment of Physical Medicine and Rehabilitation, Faculty of Medicine, Universitas Airlangga/Dr Soetomo General Academic HospitalDepartment of Dermatology Venerology, Faculty of Medicine, Universitas Airlangga/Dr. Soetomo General Academic HospitalDepartment of Child Health, Faculty of Medicine, Universitas Airlangga/Dr Soetomo General Academic HospitalDepartment of Chemistry, Faculty of Science and Technology, Universitas AirlanggaCenter for Infectious Diseases, Kobe University Graduate School of MedicineInstitute of Tropical Disease, Universitas AirlanggaCenter for Infectious Diseases, Kobe University Graduate School of MedicineDivision of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of ManchesterAbstract Background Coronavirus disease 2019 (COVID-19) is a global health problem that causes millions of deaths worldwide. The clinical manifestation of COVID-19 widely varies from asymptomatic infection to severe pneumonia and systemic inflammatory disease. It is thought that host genetic variability may affect the host’s response to the virus infection and thus cause severity of the disease. The SARS-CoV-2 virus requires interaction with its receptor complex in the host cells before infection. The transmembrane protease serine 2 (TMPRSS2) has been identified as one of the key molecules involved in SARS-CoV-2 virus receptor binding and cell invasion. Therefore, in this study, we investigated the correlation between a genetic variant within the human TMPRSS2 gene and COVID-19 severity and viral load. Results We genotyped 95 patients with COVID-19 hospitalised in Dr Soetomo General Hospital and Indrapura Field Hospital (Surabaya, Indonesia) for the TMPRSS2 p.Val160Met polymorphism. Polymorphism was detected using a TaqMan assay. We then analysed the association between the presence of the genetic variant and disease severity and viral load. We did not observe any correlation between the presence of TMPRSS2 genetic variant and the severity of the disease. However, we identified a significant association between the p.Val160Met polymorphism and the SARS-CoV-2 viral load, as estimated by the Ct value of the diagnostic nucleic acid amplification test. Furthermore, we observed a trend of association between the presence of the C allele and the mortality rate in patients with severe COVID-19. Conclusion Our data indicate a possible association between TMPRSS2 p.Val160Met polymorphism and SARS-CoV-2 infectivity and the outcome of COVID-19.https://doi.org/10.1186/s40246-021-00330-7COVID-19TMPRSS2Polymorphism |
| spellingShingle | Laksmi Wulandari Berliana Hamidah Cennikon Pakpahan Nevy Shinta Damayanti Neneng Dewi Kurniati Christophorus Oetama Adiatmaja Monica Rizky Wigianita Soedarsono Dominicus Husada Damayanti Tinduh Cita Rosita Sigit Prakoeswa Anang Endaryanto Ni Nyoman Tri Puspaningsih Yasuko Mori Maria Inge Lusida Kazufumi Shimizu Delvac Oceandy Initial study on TMPRSS2 p.Val160Met genetic variant in COVID-19 patients Human Genomics COVID-19 TMPRSS2 Polymorphism |
| title | Initial study on TMPRSS2 p.Val160Met genetic variant in COVID-19 patients |
| title_full | Initial study on TMPRSS2 p.Val160Met genetic variant in COVID-19 patients |
| title_fullStr | Initial study on TMPRSS2 p.Val160Met genetic variant in COVID-19 patients |
| title_full_unstemmed | Initial study on TMPRSS2 p.Val160Met genetic variant in COVID-19 patients |
| title_short | Initial study on TMPRSS2 p.Val160Met genetic variant in COVID-19 patients |
| title_sort | initial study on tmprss2 p val160met genetic variant in covid 19 patients |
| topic | COVID-19 TMPRSS2 Polymorphism |
| url | https://doi.org/10.1186/s40246-021-00330-7 |
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