Table 3.
HLA haplotype analysis of HLA-A, -C, -B, -DRB1, -DQA1, -DQB1, -DPA1 and -DPB1 in Japanese PBC patients and Japanese healthy controls.
| A~B | Control | % | PBC | % | OR (95%CI) | P-value | Pc-value |
|---|---|---|---|---|---|---|---|
| 33:03:01~44:03:01 | 375 | 8.1 | 93 | 2.8 | 0.33 (0.26–0.42) | 2.22E-16 | 4.88E-15 |
| 24:02:01~07:02:01 | 270 | 5.8 | 134 | 4.1 | 0.69 (0.55–0.85) | 4.70E-04 | 1.03E-02 |
| 11:01:01~15:01:01 | 130 | 2.8 | 55 | 1.7 | 0.59 (0.42–0.82) | 9.89E-04 | 2.18E-02 |
| 24:02:01~40:02:01 | 82 | 1.8 | 93 | 2.8 | 1.61 (1.18–2.21) | 1.61E-03 | 3.54E-02 |
| C~B | Control | % | PBC | % | OR (95%CI) | P-value | Pc-value |
| 14:03:01~44:03:01 | 418 | 9.0 | 106 | 3.2 | 0.34 (0.27–0.42) | 2.22E-16 | 3.77E-15 |
| 04:01:01~15:01:01 | 158 | 3.4 | 62 | 1.9 | 0.54 (0.40–0.74) | 4.66E-05 | 7.92E-04 |
| 07:02:01~07:02:01 | 324 | 7.0 | 165 | 5.0 | 0.70 (0.58–0.85) | 3.14E-04 | 5.33E-03 |
| 01:02:01~46:01:01 | 254 | 5.5 | 246 | 7.4 | 1.39 (1.16–1.68) | 3.20E-04 | 5.43E-03 |
| 03:04:01~40:02:01 | 260 | 5.6 | 248 | 7.5 | 1.37 (1.14–1.65) | 5.62E-04 | 9.55E-03 |
| 08:01:01~40:06:01 | 171 | 3.7 | 171 | 5.2 | 1.43 (1.14–1.79) | 1.14E-03 | 1.95E-02 |
| A~C~B | Control | % | PBC | % | OR (95%CI) | P-value | Pc-value |
| 33:03:01~14:03:01~44:03:01 | 375 | 9.3 | 93 | 3.2 | 0.33 (0.26–0.42) | 2.22E-16 | 4.44E-15 |
| 11:01:01~04:01:01~15:01:01 | 120 | 3.0 | 37 | 1.3 | 0.43 (0.29–0.63) | 4.00E-06 | 8.00E-05 |
| 24:02:01~07:02:01~07:02:01 | 270 | 6.7 | 135 | 4.7 | 0.69 (0.56–0.86) | 5.97E-04 | 1.19E-02 |
| DRB1~DQB1 | Control | % | PBC | % | OR (95%CI) | P-value | Pc-value |
| 13:02:01~06:04:01 | 388 | 8.3 | 75 | 2.3 | 0.26 (0.20–0.33) | 2.22E-16 | 3.55E-15 |
| 08:03:02~06:01:01 | 385 | 8.3 | 456 | 13.8 | 1.77 (1.53–2.05) | 2.73E-15 | 4.37E-14 |
| 04:05:01~04:01:01 | 617 | 13.3 | 596 | 18.0 | 1.44 (1.27–1.63) | 5.10E-09 | 8.17E-08 |
| 15:01:01~06:02:01 | 342 | 7.3 | 142 | 4.3 | 0.57 (0.46–0.69) | 1.99E-08 | 3.19E-07 |
| 08:02:01~04:02:01 | 85 | 1.8 | 108 | 3.3 | 1.82 (1.35–2.45) | 3.78E-05 | 6.05E-04 |
| 04:06:01~03:02:01 | 170 | 3.7 | 68 | 2.1 | 0.55 (0.41–0.74) | 3.84E-05 | 6.15E-04 |
| 12:01:01~03:01:01 | 151 | 3.2 | 62 | 1.9 | 0.57 (0.42–0.77) | 1.94E-04 | 3.10E-03 |
| 01:01:01~05:01:01 | 336 | 7.2 | 176 | 5.3 | 0.72 (0.60–0.88) | 6.92E-04 | 1.11E-02 |
| DRB1~DQB1~DPB1 | Control | % | PBC | % | OR (95%CI) | P-value | Pc-value |
| 13:02:01~06:04:01~04:01:01 | 268 | 6.1 | 40 | 1.3 | 0.20 (0.14–0.28) | 2.22E-16 | 4.44E-15 |
| 04:05:01~04:01:01~05:01:01 | 345 | 7.9 | 389 | 12.4 | 1.67 (1.43–1.95) | 3.55E-11 | 7.10E-10 |
| 08:03:02~06:01:01~05:01:01 | 197 | 4.5 | 254 | 8.1 | 1.88 (1.55–2.29) | 5.17E-11 | 1.03E-09 |
| 15:01:01~06:02:01~02:01:02 | 144 | 3.3 | 40 | 1.3 | 0.38 (0.26–0.55) | 3.59E-08 | 7.18E-07 |
| 04:06:01~03:02:01~02:01:02 | 121 | 2.8 | 44 | 1.4 | 0.51 (0.35–0.72) | 9.10E-05 | 1.82E-03 |
| 01:01:01~05:01:01~04:02:01 | 242 | 5.5 | 115 | 3.7 | 0.66 (0.52–0.83) | 2.60E-04 | 5.20E-03 |
| 08:03:02~06:01:01~02:02:01 | 79 | 1.8 | 95 | 3.0 | 1.71 (1.25–2.35) | 4.01E-04 | 8.03E-03 |
| DRB1~DQA1~DQB1 | Control | % | PBC | % | OR (95%CI) | P-value | Pc-value |
| 13:02:01~01:02:01~06:04:01 | 388 | 8.3 | 75 | 2.3 | 0.26 (0.20–0.33) | 2.22E-16 | 3.33E-15 |
| 08:03:02~01:03:01~06:01:01 | 385 | 8.3 | 456 | 13.8 | 1.77 (1.53–2.05) | 2.73E-15 | 4.10E-14 |
| 04:05:01~03:03:01~04:01:01 | 617 | 13.3 | 595 | 18.0 | 1.44 (1.27–1.63) | 6.30E-09 | 9.44E-08 |
| 15:01:01~01:02:01~06:02:01 | 342 | 7.3 | 142 | 4.3 | 0.57 (0.46–0.69) | 1.99E-08 | 2.99E-07 |
| 04:06:01~03:01:01~03:02:01 | 170 | 3.7 | 68 | 2.1 | 0.55 (0.41–0.74) | 3.84E-05 | 5.77E-04 |
| 08:02:01~04:01:01~04:02:01 | 85 | 1.8 | 107 | 3.2 | 1.80 (1.34–2.43) | 5.25E-05 | 7.88E-04 |
| 01:01:01~01:01:01~05:01:01 | 336 | 7.2 | 176 | 5.3 | 0.72 (0.60–0.88) | 6.92E-04 | 1.04E-02 |
| A~C~B~DRB1~DQA1~DQB1~DPB1 | Control | % | PBC | % | OR (95%CI) | P-value | Pc-value |
| 33:03:01~14:03:01~44:03:01~13:02:01~01:02:01~06:04:01~04:01:01 | 223 | 4.8 | 31 | 0.9 | 0.19 (0.12–0.28) | 2.22E-16 | 1.78E-15 |
| 24:02:01~07:02:01~07:02:01~01:01:01~01:01:01~05:01:01~04:02:01 | 187 | 4.0 | 86 | 2.6 | 0.64 (0.49–0.83) | 6.28E-04 | 5.03E-03 |
| 24:02:01~12:02:02~52:01:01~15:02:01~01:03:01~06:01:01~09:01:01 | 382 | 8.2 | 341 | 10.3 | 1.29 (1.10–1.50) | 1.24E-03 | 9.94E-03 |
OR, odds ratio; 95%CI, 95% confidence interval; Pc-value, multiple testing-corrected p-value; binned, rare HLA alleles with expected count < 5, combined into a common class.