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

Table 1. Genetic and epigenetic variations in ACE2 and their way to modulate ACE2 protein and/or different virus entry.

ACE2 gene Variation, MAF (%) Effect on protein, virus interaction or infection Ref.
Genetic variations in exons rs73635825A >G (S19P), G:0–0.1 Affecting intermolecular interaction with the coronavirus spike protein [18]
    Interaction-booster between ACE2 and S1 [19]
  rs143936283T >C (E329G), C: <0.02 Affecting intermolecular interaction with the coronavirus spike protein [18]
  rs778030746T >C (I21V), C:<0.002; rs1244687367A >G (I21T), G: <0.001; rs756231991C >T (E23K), T:<0.001; rs1434130600C >T (A25T), T: <0.001; rs4646116T >C (K26R), C: 2–9; Interaction-booster between ACE2 and S1 [19]
  rs781255386T >C (T27A), C: 0.001; rs778500138T >A (E35D), A: 0–0.3; rs1199100713A >T (N64K), T: <0.001; rs867318181T >C (E75G), C: <0.001; rs763395248G >A (T92I), A: <0.002; rs1395878099T >G (Q102P), G: <0.004; rs142984500T >C (H378R), C: 0.007–0.02; rs1348114695C >T (E35K), T:<0.002; rs146676783C >T (E37K); T: 0.002–0.003; rs1192192618T >A (Y50F), A: <0.001; rs760159085T >C (N51D), C: <0.001; rs1569243690T >C (N51S), C: <0.001; rs1325542104T >C (M62V), C: <0.02; rs755691167T >C (K68E), C: <0.001; rs1256007252A >C (F72V), C: <0.001; rs766996587C >A, T (M82I), T: 0.001–0.01; rs759579097C >T (G326E), T: <0.001; rs143936283T >C (E329G), C: 0.01–0.03; rs370610075C >A (G352V), A: 0.001–0.01; rs961360700C >T (D355N), T: <0.01; rs751572714T >A (Q388L), 0.002–0.004; rs762890235G >T (P389H), T: 0.002–0.004; rs1016409802T >C (H505R), Unknown; rs1352194082G >A, C (R514G/*), C: <0.001; rs1263424292T >C (Y515C), C: <0.001 Interaction-inhibitor between ACE2 and S1 [19]
Genetic variations in introns rs2106809A >G (intron 1), G: 18–32 No effect on circulating ACE2 levels [16]
    No association with SARS poor outcomes [20]
  rs4646155C >T (intron 8), T: 0–6 No effect on circulating ACE2 levels [16]
  rs879922G >C (intron 11), C: 32–39 No effect on circulating ACE2 levels [16]
    Lower ACE2 expression in CC [14]
  rs2285666G >A (intron 3), A:18 Decreased ACE2 expression in AA [17]
    No association with SARS poor outcomes [20]
    No association with SARS process [21]
  rs4646142G >A, C (intron 7), C: 20–48; rs714205C >G (intron 16), G: 17–49; rs2074192C >T (intron 16), T: 36–47 No association with SARS poor outcomes [20]
Epigenetic changes: DNA methylation ChrX: 15621573–15622147 Gender differences in the methylation of specific CpG sites in healthy individuals [22]
Epigenetic changes: microRNAs miR-421, miR-143 Are among known ACE2 expression regulators [23]
  miR-200b, hsa-miR-200c and hsa-miR-429 Predicted miR binding site [24]
  miR-200c-3p Mi-R upregulated by avian influenza virus H5N1 [25]
Epigenetic changes: histone modifications HAT1, HDAC2 and KDM5B ACE2 regulation in the lung [26]
  JAK–STAT pathway ACE2 gene regulation [27]

MAF: Minor Allele Frequency; SARS: Severe Acute Respiratory Syndrome.

HHS Vulnerability Disclosure