Table 3.
ERAP2 Splice Region Variant Is Protective for BSCR
| Gene | Variant | Variant Type | Study | OR (95% CI) | P | Hom OR | Case MAF | Control MAF | Meta OR (95% CI) | Meta P Value |
|---|---|---|---|---|---|---|---|---|---|---|
| ERAP2 | rs2248374 5:96900192:A:G | Splice region | Kuiper et al.8 | 0.44 (0.31–0.63) | 6.60E-06 | — | 0.33 | 0.53 | ||
| 0.56 (0.45–0.70) | 2.39E-07 | |||||||||
| UParis | 0.68 (0.5–0.92) | 1.40E-02 | 0.45 (0.23–0.87) | 0.43 | 0.53 |
The common ERAP2 splice region variant rs2248374 that disrupts ERAP2 expression is protective in the current BSCR cohort and the previous Spanish and Dutch cohorts.