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. 2020 Nov 27:10.2217/pgs-2020-0092. doi: 10.2217/pgs-2020-0092

Table 2. Genetic and epigenetic variations in TMPRSS2 and their way to modulate severe acute respiratory syndrome coronavirus-2 entry to host cell.

TMPRSS2 gene Variation MAF Effect on protein, virus interaction or infection Ref.
Genetic variations rs2070788G >A, intron variant A: 36–47% Higher-expression of TMPRSS2 in rs2070788G allele carriers
Higher risk to severe A(H1N1)2009 and A(H7N9) influenza
[38]
  rs383510T >C, intron variant C: 35–49% Higher TMPRSS2 transcriptional level in rs383510T allele carriers
Higher risk to severe A(H1N1)2009 and A(H7N9) influenza
[38]
  rs8134378G >A, T, within androgen response element A: 0.4–17% Reduces binding and transactivation by the androgen receptor [39]
  rs12329760C >T, V160M T: 15–43% Significantly associated with fusion by deletion [40]
Gene fusion TMPRSS2-ERG fusion, oncogenic rearrangement Significantly reduced expression of TMPRSS2 [41]
Epigenetic changes: histone modifications Histone acetylation Associated with promoted prostate cancer cell growth through TMPRSS2 activation [42]

MAF: Minor Allele Frequency.

HHS Vulnerability Disclosure