Table 1.
GWAS-annotated variants of (1.A) and eQTL variants regulating (1.B) ACE2, HLA and ERAP genes with significant differences in allele frequencies among populations.
| 1.A. GWAS-annotated variants of the HLA and ERAP genes with significant differences in allele frequencies. Variants of ACE2 gene are not seen associated with traits in GWAS Catalog of global genome-wide association studies. | |||
|---|---|---|---|
| Variant | Gene | GWAS- annotated trait | Allele Frequency Pattern@ |
| Rs3916500 | HLA-A | Height | EAS:26%; AFR:0.1% |
| Rs10484554 | HLA-A | Psoriasis | EAS:5%; QTR:28% |
| rs116576188 | HLA-B | Ubiquitin carboxyl-terminal hydrolase 25 blood levels | AFR:8%; QTR:26% |
| rs1065386 | HLA-B | Proliferative diabetic retinopathy | KWT:0.4%; EAS:59% |
| rs12191877 | HLA-B | Psoriasis | EAS:5%; QTR:28% |
| rs12199223 | HLA-B | Psoriasis | EAS:4%; QTR:23% |
| rs13191343 | HLA-B | Psoriatic arthritis | AFR:9%; SAS:29% |
| rs4406273 | HLA-B | Psoriasis | EAS:4%; QTR:23% |
| rs13191343 | HLA-B | Psoriatic arthritis | AFR:9%; SAS:29% |
| rs9265503 | HLA-B | Blood level of MHC class I polypeptide-related sequence B | QTR:10%; AFR:33% |
| rs2596492 | HLA-B | TIE2 blood levels | KWT:0.4%; QTR:36% |
| rs9357121 | HLA-B | Total and LDL cholesterol | AFR:0.8%; EAS:19% |
| rs2013717 | ERAP1 | ERAP1 blood levels | AFR:7%; EUR:23% |
| rs27033 | ERAP1 | Endoplasmic reticulum aminopeptidase 1 blood levels | EAS:13%; QTR:69% |
| 1.B. eQTL variants for the ACE2, HLA, and ERAP genes with significant differences in allele frequencies | |||
| eQTL variant | Gene harboring the eQTL variant / gene regulated by the eQTL variant | GWAS- annotated trait | Allele Frequency Pattern |
| rs112171234 |
ACE2 /ACE2 |
NA | AMR:3%; AFR:21% |
| rs6632704 |
CLTRN /ACE2 |
NA | QTR:41%; EAS:93% |
| rs4060 |
CA5BP1-CA5B /ACE2 |
NA | KWT:4%; AFR, SAS, AMR:69% |
| rs114712755 |
HLA-B /HLA-B |
NA | SAS:4%; QTR:27% |
| rs117309887 |
Intergenic (HLA-C, HLA-B) /HLA-B |
NA | AFR:8%; QTR:28% |
| rs12199223 |
Intergenic (HLA-C, HLA-B) /HLA-B |
Psoriasis | EAS:4%; QTR:23% |
| rs2394987 |
Intergenic (HLA-B, MICA) /HLA-B |
NA | SAS:7%; QTR:29% |
| rs9264255 |
Intergenic (HCG27;HLA-C) /HLA-C |
NA | AFR:3%; EAS:21% |
| rs27039 |
ERAP1 /ERAP1 |
NA | AFR:23%; AMR:61% |
| rs27433 |
CAST /ERAP1 |
NA | KWT:38%; QTR:85% |
| rs3797814 |
CAST /ERAP1 |
NA | AFR,EAS:9%; QTR:37% |
| rs7356594 |
CAST /ERAP1 |
NA | AFR,EAS:9%; QTR:37% |
@
, EAS: East Asians; AFR: Africans; AMR: Ad-mixed Americans; SAS: South Asians; EUR: Europeans; KWT: Kuwaitis; QTR: Qataris.