Polymorphism of the TMPRSS2 gene relating to COVID-19 subceptibility in Vietnamese population

Nguyen Dang Ton, Vu Phuong Nhung, Duong Thu Trang, Nguyen Thi Thanh Hoa, Nguyen Hoai Nam, Hoang Thi Thuan, Ho Anh Son, Nguyen Thi Thanh Hai, Pham Ngoc Thach, Nong Van Hai, Nguyen Hai Ha


Recently, a contagious lung disease named coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), rapidly spread worldwide and has many serious consequences for human health. Human genetic polymorphisms may contribute to the variation of incidence, mortality as well as severity of COVID-19. To date, this factor in the Vietnamese population remains unknown. A cellular protease termed transmembrane protease serine 2 (TMPRSS2) was found to play a vital role in the entry of SARS-CoV-2 into host cells. In this study, we investigated polymorphisms in the TMPRSS2 gene from 270 whole exome sequencing data of Vietnamese peoples. We also employed bioinformatics tools including SIFT, Polyphen-2, and PROVEAN to predict the possible function of missense variants. A total of 34 TMPRSS2 variants were identified, of which, 29 were in non-coding regions and 14 were in coding regions. Variants found in exons included seven synonymous and seven non-synonymous point mutations, one of which was novel mutation (c.A1336C/p.R446R). Mutation c.G589A/p.V197M (rs12329760) possesses the highest frequency and was predicted to have the ability to damage protein by SIFT and Polyphen-2. In addition, the damaging possibility was also found in c.T244G/p.Y82D and c.C896T/p.A299V variants. This study contributes to the understanding of Vietnamese genetic variation databases relating to susceptibility to COVID-19.



SARS-CoV-2; human TMPRSS2; genetic polymorphism


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DOI: https://doi.org/10.15625/2615-9023/15829 Display counter: Abstract : 53 views.


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