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.