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Initial study on TMPRSS2 p.Val160Met genetic variant in COVID-19 patients.
Wulandari, Laksmi; Hamidah, Berliana; Pakpahan, Cennikon; Damayanti, Nevy Shinta; Kurniati, Neneng Dewi; Adiatmaja, Christophorus Oetama; Wigianita, Monica Rizky; Husada, Dominicus; Tinduh, Damayanti; Prakoeswa, Cita Rosita Sigit; Endaryanto, Anang; Puspaningsih, Ni Nyoman Tri; Mori, Yasuko; Lusida, Maria Inge; Shimizu, Kazufumi; Oceandy, Delvac.
  • Wulandari L; Department of Pulmonology and Respiratory Medicine, Faculty of Medicine, Universitas Airlangga/Dr Soetomo General Academic Hospital, Surabaya, Indonesia.
  • Hamidah B; Department of Biomedical Sciences, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia.
  • Pakpahan C; Department of Biomedical Sciences, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia.
  • Damayanti NS; Andrology Program, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia.
  • Kurniati ND; Indrapura KOGABWILHAN II Hospital, Surabaya, Indonesia.
  • Adiatmaja CO; Department of Medical Microbiology, Faculty of Medicine, Universitas Airlangga/Clinical Microbiology Unit, Central Laboratory Installation, Dr Soetomo General Academic Hospital, Surabaya, Indonesia.
  • Wigianita MR; Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia.
  • Soedarsono; Clinical Pathology Program, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia.
  • Husada D; Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia.
  • Tinduh D; Department of Pulmonology and Respiratory Medicine, Faculty of Medicine, Universitas Airlangga/Dr Soetomo General Academic Hospital, Surabaya, Indonesia.
  • Prakoeswa CRS; Department of Child Health, Faculty of Medicine, Universitas Airlangga/Dr Soetomo General Academic Hospital, Surabaya, Indonesia.
  • Endaryanto A; Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Universitas Airlangga/Dr Soetomo General Academic Hospital, Surabaya, Indonesia.
  • Puspaningsih NNT; Department of Dermatology Venerology, Faculty of Medicine, Universitas Airlangga/Dr. Soetomo General Academic Hospital, Surabaya, Indonesia.
  • Mori Y; Department of Child Health, Faculty of Medicine, Universitas Airlangga/Dr Soetomo General Academic Hospital, Surabaya, Indonesia.
  • Lusida MI; Department of Chemistry, Faculty of Science and Technology, Universitas Airlangga, Surabaya, Indonesia.
  • Shimizu K; Laboratory of Proteomic, University CoE-Research Center for Bio-Molecule Engineering, Universitas Airlangga, Surabaya, Indonesia.
  • Oceandy D; Center for Infectious Diseases, Kobe University Graduate School of Medicine, Kusunoki-cho, Chuo-ku, Kobe, Japan.
Hum Genomics ; 15(1): 29, 2021 05 17.
Article in English | MEDLINE | ID: covidwho-1232439
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.
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Full text: Available Collection: International databases Database: MEDLINE Main subject: Serine Endopeptidases / Genetic Predisposition to Disease / Polymorphism, Single Nucleotide / SARS-CoV-2 / COVID-19 Type of study: Diagnostic study / Observational study / Prognostic study / Randomized controlled trials Topics: Variants Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: English Journal: Hum Genomics Journal subject: Genetics Year: 2021 Document Type: Article Affiliation country: S40246-021-00330-7

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Full text: Available Collection: International databases Database: MEDLINE Main subject: Serine Endopeptidases / Genetic Predisposition to Disease / Polymorphism, Single Nucleotide / SARS-CoV-2 / COVID-19 Type of study: Diagnostic study / Observational study / Prognostic study / Randomized controlled trials Topics: Variants Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: English Journal: Hum Genomics Journal subject: Genetics Year: 2021 Document Type: Article Affiliation country: S40246-021-00330-7