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.