Table 1. Replication analysis of Japanese samples for SNPs associated with PBC in previous studies, and two newly identified loci (TNFSF15 and POU2AF1).
| Gene name | SNP | OR | 95% CI | P-value |
| Significant associations with PBC | ||||
| TNFSF15 | rs4979462 | 1.57 | 1.76–1.40 | 1.85×10−14 |
| POU2AF1 | rs4938534 | 1.38 | 1.55–1.23 | 3.27×10−8 |
| IKZF3 | rs9303277 | 1.44 | 1.63–1.28 | 3.66×10−9 |
| CD80 | rs2293370 | 1.48 | 1.68–1.29 | 3.04×10−9 |
| IL7R | rs6890853 | 1.47 | 1.69–1.28 | 3.66×10−8 |
| Suggestive associations with PBC | ||||
| NFKB1 | rs7665090 | 1.35 | 1.52–1.21 | 1.42×10−7 |
| STAT4 | rs7574865 | 1.35 | 1.52–1.19 | 1.11×10−6 |
| Marginal associations with PBC | ||||
| CXCR5 | rs6421571 | 1.42 | 1.75–1.16 | 0.0004 |
| TNFAIP2 | rs8017161 | 1.22 | 1.38–1.08 | 0.0006 |
| MAP3K7IP1(TAB1) | rs968451 | 1.29 | 1.52–1.10 | 0.0009 |
| rs6974491 | rs2717948 | 1.33 | 1.66–1.07 | 0.005 |
| DENND1B | rs12134279 | 1.14 | 1.33–0.98 | 0.0405 |
| No apparent associations with PBC | ||||
| rs11117432 | rs8062669 | 1.21 | 1.52–0.96 | 0.0521 |
| IL12RB2/SCHIP1 | rs3790567 | 1.12 | 1.28–0.98 | 0.0540 |
| RPS6KA4 | rs538147 | 1.12 | 1.28–0.98 | 0.0554 |
| TNFRSF1A | rs1800693 | 1.12 | 1.30–0.97 | 0.0607 |
| CLEC16A | rs12924729 | 1.10 | 1.28–0.94 | 0.1197 |
| MMEL1 | rs3748816 | 1.07 | 1.20–0.95 | 0.1256 |
| PLCL2 | rs1372072 | 1.07 | 1.20–0.95 | 0.1396 |
| SPIB | rs3745516 | 1.08 | 1.27–0.92 | 0.1803 |
| IRF5/TNPO3 | rs4728142 | 1.08 | 1.30–0.90 | 0.2027 |
| RAD51L1 | rs911263 | 1.07 | 1.30–0.89 | 0.2353 |
| IL12A | rs6441286 | 1.02 | 1.15–0.91 | 0.3422 |