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Table 1 Genetic risk factors for severe COVID-19

From: Update on human genetic susceptibility to COVID-19: susceptibility to virus and response

SARS-CoV-2 susceptibility gene variant or haplotype Risk estimated [OR] Frequency [MAF] References
TLR3, UNC93B1, TICAM1, TBK1, IRF3, IRF7, IFNAR1, IFNAR2 (autosomal-dominant model) 9  < 0.001 Zhang et al. [20]
IRF7, IFNAR1 (autosomal-recessive model)  > 50  < 0.001 Zhang et al. [20]
rs769208985—missense variant of FURIN N.A  < 0.001 Latini et al. [71]
rs150892504—missense variant of ERAP2 N.A 0.002 Hu et al. [60]
rs138763430—missense variant of BRF2 N.A 0.002 Hu et al. [60]
rs147149459—missense variant of ALOXE3 N.A 0.002 Hu et al. [60]
rs117665206—missense variant of TMEM181 N.A 0.006 Hu et al. [60]
rs114363287—missense variant of TMPRSS2 N.A 0.006 Latini et al. [71]
rs61756766—missense variant of TNFRSF13C 12.3 0.008 Russo et al. [61]
rs7626962—missense variant of SCN5A 8.7 0.008 SeyedAlinaghi et al. [62]
rs1805128—missense variant of KCNE1 9.0 0.009 SeyedAlinaghi et al. [62]
HLA-DRB*27:07 N.A 0.02 Novelli et al. [51]
rs72711165—intronic variant of TMEM65 1.2 0.02 COVID-19 H.G.I. [66]
rs115492982—intronic variant of MRPS21 2.5 0.02 Dite et al. [63]
rs74956615—3'UTR variant of TYK2 1.6 0.03 Pairo-Castineira et al. [11]
rs2034831—intronic variant of ITGA4 1.2 0.05 Dite et al. [63]
rs76374459—intronic variant of LZTFL1 1.2 0.05 Dite et al. [63]
rs35652899—intronic variant of LZTFL1 1.2 0.05 Dite et al. [63]
rs10490770—intronic variant of LZTFL1 2.0 0.06 COVID-19 H.G.I. [66]
rs333—CCR5-Δ32 0.7 0.07 Cuesta-Llavona et al. [76]
rs73064425—intronic variant of LZTFL1 2.1 0.08 Pairo-Castineira et al. [11], Ellinghaus et al. [23]
rs11385942—intronic variant of LZTFL1 1.8 0.07 Ellinghaus et al. [23]
rs1886814—intronic variant of FOXP4 1.3 0.07 COVID-19 H.G.I. [66]
rs76488148—intronic variant of GYG1 1.3 0.07 Dite et al. [63]
rs2271616—5'UTR variant of SLC6A20 1.1 0.08 COVID-19 H.G.I. [66]
HLA-DQB1*06:02 N.A 0.08 Novelli et al. [51]
rs143334143—intronic variant of CCHCR1 1.9 0.09 Pairo-Castineira et al. [11]
HLA-DRB1*15:01 N.A 0.10 Novelli et al. [51]
rs12252:G allele of IFITM3 2.2 0.13 Alghamdi et al. [52]
rs4801778—intronic variant of PLEKHA4 1.0 0.16 COVID-19 H.G.I. [66]
rs6598045—5'UTR variant of IFITM3 N.A 0.19 Kim et al. [53]
rs429358—missense variant of APOE 2.3–2.4 0.20 Kuo et al. [65]
rs12610495—intronic variant of DPP9 N.A 0.25 Moon et al. [41]
rs12329760—intronic variant of TMPRSS2/MX1 0.9 0.25 Andolfo et al. [72]
rs2298661—missense variant of TMPRSS2/MX1 0.9 0.25 Andolfo et al. [72]
rs3787946—intronic variant of TMPRSS2/MX1 0.9 0.28 Andolfo et al. [72]
rs9983330—intronic variant of TMPRSS2/MX1 0.9 0.28 Andolfo et al. [72]
rs9380142—3'UTR variant of HLA-G 13 0.29 Pairo-Castineira et al. [11]
rs2109069—intronic variant of DPP9 1.4 0.33 Pairo-Castineira et al. [11], COVID-19 H.G.I. [66]
rs9985159—intronic variant of TMPRSS2/MX1 0.9 0.33 Andolfo et al. [72]
Rs75603675—missense variant of TMPRSS2 N.A 0.36 Latini et al. [71]
rs1405655—intronic variant of NR1H2 1.1 0.37 COVID-19 H.G.I. [66]
rs12329760—missense variant of TMPRSS2 0.9 0.39 Hou et al. [73]
rs657152—intronic variant of ABO 1.3 0.41 Ellinghaus et al. [23]
rs677800—intronic variant of ABO N.A 0.55 Moon et al. [41]
rs6020298—intronic variant of TMEM189-UBE2V1 1.2 0.58 Wang et al. [74]
rs10735079—intronic variant of OAS1/3 1.3 0.64 Pairo-Castineira et al. [11]
rs8065800—intronic variant of MAPT 1.7 0.65 COVID-19 H.G.I. [66]
rs10774671—intronic, splicing variant of OAS1 1.1 0.67 COVID-19 H.G.I. [66]
rs13050728—intronic variant of IFNAR2 0.9 0.69 COVID-19 H.G.I. [66]
rs2236757—intronic variant of IFNAR2 1.3 0.71 Pairo-Castineira et al. [11]
rs3131294—intronic variant of NOTCH4 1.5 0.90 Pairo-Castineira et al. [11]
HLA-A*11 N.A N.A Fricke-Galindo et al. [54]
HLA-A*11:01:01:01 2.3 N.A Khor et al. [56]
HLA-A*25:01 N.A N.A Fricke-Galindo et al. [54]
HLA-B*46:01 2.1 N.A Lin et al. [53], Fricke-Galindo et al. [54]
HLA-B*51:01 N.A N.A Fricke-Galindo et al. [54]
HLA B*54:01 5.4 N.A Lin et al. [55]
HLA-C*01 N.A N.A Fricke-Galindo et al. [54]
HLA-C*01:02 N.A N.A Fricke-Galindo et al. [54]
HLA-C*05 N.A N.A Fricke-Galindo et al. [54]
HLA-C*12:02:02:01-HLA*52:01:02:02 2.3 N.A Khor et al. [56]
HLA-C*14:02 N.A N.A Fricke-Galindo et al. [54]
HLA-C*17 N.A N.A Bonaccorsi et al. [57]
HLA-DQB1*04 N.A N.A Fricke-Galindo et al. [54]
HLA-DQB1*08 N.A N.A Fricke-Galindo et al. [54]
HLA-E*0101/0103 2.1–2.7 N.A Vietzen et al. [58]
KLRC2del 2.6–7.1 N.A Vietzen et al. [58]
ACE1 I/D genotype 2.5 N.A Verma et al. [69]
C9orf72 with HREs > 10 units 2.4 N.A Zanella et al. [64]
c.2129_2132del, p.Gln710Argfs*18—frameshift variant of TLR7 N.A N.A van der Made et al. [42]
c.2383G > T, p.Val795Phe—missense variant of TLR7 N.A N.A van der Made et al. [42]
c.644A > G, p.Asn215Ser—missense variant of TLR7 N.A N.A Solanich et al. [43]
c.2797 T > C, p.Trp933Arg—missense variant of TLR7 N.A N.A Solanich et al. [43]
c.901 T > C, p.Ser301Pro—missense variant of TLR7 N.A N.A Fallerini et al. [44]
c.3094G > A, p.Ala1032Thr— missense variant of TLR7 N.A N.A Fallerini et al. [44]
c.2759G > A, p.Arg920Lys—missense variant of TLR7 N.A N.A Fallerini et al. [44]
c.863C > T, p.Ala288Val—missense variant of TLR7 N.A N.A Fallerini et al. [44]
c.1342C > T, p.Ala448Val—missense variant of TLR7 N.A N.A Fallerini et al. [44]
c.655G > A, p.Val219Ile—missense variant of TLR7 N.A N.A Fallerini et al. [44]
rs140312271—missense variant of ACE2 N.A N.A Novelli et al. [75]
  1. MAF Major Allele Frequency; N.A. Not Applicable; OR Odds Ratio