- identified gene expression profiles for TMPRSS2 using multiple large genome databases: GTEx portal, SNP nexus, and Ensembl genome project
- identified four key variants for expression of TMPRSS2 in lungs: rs464397, rs469390, rs2070788 and rs383510
- higher frequency of upregulating variants in European and American populations which may explain the variation in severity of SARS-CoV-2 infection

State University of New York at Stony Brook

Because the incidence and mortality rates of COVID-19 are significantly different in different regions of the world, it is thought that human variation may play a greater role than viral variation in determining these outcomes.  Significant variation in the gene TMPRSS2, which codes for the protease TMPRSS2, has been observed in different ethnic groups.  This may contribute to the different rates of infectivity seen in different populations.  

Genetic variation within the TMPRSS2 protease may play a role in COVID-19 infection

Irham, L. M., Chou, W. H., Calkins, M. J., Adikusuma, W., Hsieh, S. L., & Chang, W. C. (2020). Genetic variants that influence SARS-CoV-2 receptor TMPRSS2 expression among population cohorts from multiple continents. Biochemical and Biophysical Research Communications.
https://doi.org/10.1016/j.bbrc.2020.05.179

Genetic variants that influence SARS-CoV-2 receptor TMPRSS2 expression among population cohorts from multiple continents

A point mutation in the wild type gene, V160M, has been shown to decrease the structural stability of TMPRSS2.  This variation, known as rs12329760, is reported to be more common in those with Indian ethnicity.  This finding may elucidate why Indians have experienced lower rates of infection.  

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