Initial study on TMPRSS2 p.Val160Met genetic variant in COVID-19 patients

Wulandari L., Hamidah B., Pakpahan C., Damayanti N.S., Kurniati N.D., Adiatmaja C.O., Wigianita M.R., Soedarsono, Husada D., Tinduh D., Prakoeswa C.R.S., Endaryanto A., Puspaningsih N.N.T., Mori Y., Lusida M.I., Shimizu K., Oceandy D.

Department of Pulmonology and Respiratory Medicine, Faculty of Medicine, Universitas Airlangga/Dr Soetomo General Academic Hospital, Surabaya, Indonesia; Department of Biomedical Sciences, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia; Andrology Program, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia; Indrapura KOGABWILHAN II Hospital, Surabaya, Indonesia; Department of Medical Microbiology, Faculty of Medicine, Universitas Airlangga/Clinical Microbiology Unit, Central Laboratory Installation, Dr Soetomo General Academic Hospital, Surabaya, Indonesia; Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia; Clinical Pathology Program, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia; Department of Child Health, Faculty of Medicine, Universitas Airlangga/Dr Soetomo General Academic Hospital, Surabaya, Indonesia; Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Universitas Airlangga/Dr Soetomo General Academic Hospital, Surabaya, Indonesia; Department of Dermatology Venerology, Faculty of Medicine, Universitas Airlangga/Dr. Soetomo General Academic Hospital, Surabaya, Indonesia; Department of Chemistry, Faculty of Science and Technology, Universitas Airlangga, Surabaya, Indonesia; Laboratory of Proteomic, University CoE-Research Center for Bio-Molecule Engineering, Universitas Airlangga, Surabaya, Indonesia; Center for Infectious Diseases, Kobe University Graduate School of Medicine, Kusunoki-cho, Chuo-ku, Kobe, Japan; Institute of Tropical Disease, Universitas Airlangga, Surabaya, Indonesia; Department of Microbiology, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia; CRC-ERID, Institute of Tropical Disease, Universitas Airlangga, Surabaya, Indonesia; Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom


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. © 2021, The Author(s).

COVID-19; Polymorphism; TMPRSS2


Journal

Human Genomics

Publisher: BioMed Central Ltd

Volume 15, Issue 1, Art No 29, Page – , Page Count


Journal Link: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85106167685&doi=10.1186%2fs40246-021-00330-7&partnerID=40&md5=4b0a0fc02fd988ccf4ce734628fe008d

doi: 10.1186/s40246-021-00330-7

Issn: 14739542

Type: All Open Access, Gold, Green


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