Skip to main content
. 2020 Nov 27:10.2217/pgs-2020-0092. doi: 10.2217/pgs-2020-0092

Table 6. Genetic variations in ESRs that potentially modulate severe acute respiratory syndrome coronavirus-2 entry to host cell.

Gene Variation MAF Effect on protein, virus interaction or infection Ref.
ESR1 rs2234693T >C, G (PvuII, 397T >C), intron 1 C: 27–48% May affect the gene expression or function, or as intronic changes they may have an impact on the expression of ERα by influencing the transcription through alternative splicing of the mRNA transcript [81]
  rs9340799A >G (XbaI, 351G >A), intron 1 G: 17–37% May affect the gene expression or function, or as intronic changes they may have an impact on the expression of ERα by influencing the transcription through alternative splicing of the mRNA transcript [81]
  dinucleotide (TA) repeat upstream of exon 1   May affect the gene expression or function, or as intronic changes they may have an impact on the expression of ERα by influencing the transcription through alternative splicing of the mRNA transcript [81]
ESR2 rs1256049C >T (RsaI, 1082G >A) T: 1–8% Unknown functional significance  
  rs4986938C >T (AluI, 1730G >A) T: 8–37% Unknown functional significance  
  nt809(del21)   Results in the deletion of seven amino acids from the D domain of the ERβ protein  
  rare non synonymous 846G >A, exon 4   Unknown functional significance  
  rare synonymous 1421T >C, exon 7   Unknown functional significance  
Epigenetic changes: DNA methylation DNA hypermethylation in the two tissue-dependent and differentially methylated regions   Expression of ESR1 is suppressed [82]
  DNA methylation of the promoter region   Regulates the expression of ESR2 [82]
Epigenetic changes: histone modifications Post-translational histone modifications   Modified estrogen signaling [83]

MAF: Minor Allele Frequency.

HHS Vulnerability Disclosure