Table 1. Summary of disease-associated ERAP1 SNPs and imputed ERAP1 haplotypes encoding amino acid changes.
| Disease | HLA association | ERAP1 SNP association | Associated ERAP haplotype |
|---|---|---|---|
| Ankylosing spondylitis [28,30] | HLA-B*27 Susceptible alleles: HLA-B*27:02 and HLA-B*27:05 Protective alleles: HLA-B*27:06 and HLA-B*27:09 |
rs26653 (R127P) rs2287987 (M349V) rs30187 (K528R) rs10050860 (D575N) rs17482078 (R725Q) rs27044 (Q730E) |
Susceptible ERAP1: M349/K528/D575/R725/Q730 Protective ERAP1: V349/R528/N575/Q725/ E730 |
| Behçet’s disease [27,66,67] | HLA-B*51 | rs10050860 (D575N) rs17482078 (R725Q) |
ERAP1*001/Hap10: P127/M349/R528/N575/Q725/E730 |
| Type 1 diabetes [76] | HLA-DR3, HLA-DR4, HLA-DQ2 HLA-DQ8 HLA-A*02:01 HLA-A*24:02 |
rs30187 (K528R) | |
| Psoriasis [23,81–83] | HLA-C*06:02 | rs26653 (R127P) rs30187 (K528R) rs27044 (Q730E) |
Susceptible ERAP1: M349/K528/Q730 +ERAP2 expression Protective ERAP1: M349/R528/E730 -ERAP2 expression |
| Multiple sclerosis [86] | HLA-DR15 Protective allele: HLA-C*05 |
rs30187 (K528R) | |
| Inflammatory bowel disease [88] | HLA-C*07 | rs30187 (K528R) | |
| Birdshot chorioretinopathy | HLA-A*29:02 | rs10044354 (ERAP2) | ERAP2 expression |