Table 2.
Top SNPs in ERAP1 and ERAP2 Regions
| Gene | Variant | Variant Type | Study | OR (95% CI) | P | Hom OR | Case MAF | Control MAF | Meta OR (95% CI) | Meta P Value |
|---|---|---|---|---|---|---|---|---|---|---|
| ERAP2-LNPEP * | rs10044354 5:96984791:C:T | Intronic | Kuiper et al.8 | 2.3 (1.69–3.61) | 1.21E-06 | — | 0.63 | 0.42 | ||
| 1.95 (1.55–2.44) | 6.20E-09 | |||||||||
| UParis | 1.55 (1.13–2.11) | 5.80E-03 | 2.6 (1.3–5.15) | 0.52 | 0.41 | |||||
| ERAP1 | rs27432 5:96783569:A:G† | Intronic | Kuiper et al.8 | 2.26 (2.05–2.47) | 7.20E-05 | — | 0.85 | 0.71 | ||
| 2.46 (1.85–3.26) | 4.07E-10 | |||||||||
| UParis | 2.58 (1.78–3.76) | 6.60E-07 | 4.77 (1.98–11.51) | 0.83 | 0.65 |
Variants in ERAP1 and ERAP2 are genome-wide significant when analyzed together with previous results (125 cases and 670 controls.8 Rs10044354 is the top association in the ERAP1–ERAP2 locus in the previous genome-wide association study of Dutch and Spanish cohorts, and rs27432 is the top association in the region in the current French cohort.
LD between rs10044354 (ERAP2–LNPEP) and rs27432 (ERAP1): D′ = 0.79, R2 = 0.18.
The reference A-allele is the minor allele, risk is the G-allele.