Literature DB >> 34001248

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

Laksmi Wulandari1, Berliana Hamidah2, Cennikon Pakpahan2,3, Nevy Shinta Damayanti4, Neneng Dewi Kurniati5, Christophorus Oetama Adiatmaja6,7, Monica Rizky Wigianita6, Dominicus Husada8, Damayanti Tinduh9, Cita Rosita Sigit Prakoeswa10, Anang Endaryanto8, Ni Nyoman Tri Puspaningsih11,12, Yasuko Mori13, Maria Inge Lusida14,15, Kazufumi Shimizu13,16, Delvac Oceandy17.   

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.

Entities:  

Keywords:  COVID-19; Polymorphism; TMPRSS2

Year:  2021        PMID: 34001248     DOI: 10.1186/s40246-021-00330-7

Source DB:  PubMed          Journal:  Hum Genomics        ISSN: 1473-9542            Impact factor:   4.639


  23 in total

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