Table 3.
Summary of ANA (Anti‐sp100 and Anti‐gp210) Association for Genotyped Variants in PBC Cohorts at Two‐Stage Study
| Anti‐sp100 | Anti‐gp210 | |||||||
|---|---|---|---|---|---|---|---|---|
| rs1794280 | rs492899 | rs1794280 | rs9380343 | |||||
| Position (hg19) | 32667171 | 31933518 | 32667171 | 33079166 | ||||
| A1/A2 | T/A | G/A | T/A | T/C | ||||
| Subgroups | Positive | Negative | Positive | Negative | Positive | Negative | Positive | Negative |
| GWAS | ||||||||
| Number | 211 | 711 | 211 | 711 | 350 | 562 | 350 | 562 |
| Genotypes (AA/AB/BB/missing) | 3/53/152/3 | 4/65/638/4 | 5/62/144/0 | 5/98/608/0 | 0/26/322/3 | 7/94/456/4 | 92/159/98/1 | 102/233/226/1 |
| MAF | 0.140 | 0.055 | 0.169 | 0.081 | 0.041 | 0.098 | 0.498 | 0.394 |
| OR (95% CI) | 2.79 (2.00‐3.90) | 2.28 (1.70‐3.06) | 0.40 (0.27‐0.59) | 1.53 (1.28–1.82) | ||||
| P | 4.83 × 10−10 | 2.49 × 10−8 | 1.86 × 10−6 | 2.64 × 10−6 | ||||
| Replication | ||||||||
| Number | 218 | 951 | 230 | 996 | 414 | 755 | 436 | 782 |
| Genotypes (AA/AB/BB) | 5/69/144 | 5/73/873 | 7/75/148 | 13/130/853 | 5/38/371 | 5/104/646 | 91/216/129 | 154/354/274 |
| MAF | 0.181 | 0.044 | 0.193 | 0.078 | 0.058 | 0.075 | 0.456 | 0.423 |
| OR (95% CI) | 4.85 (3.49‐6.73) | 2.82 (2.13‐3.75) | 0.75 (0.53‐1.07) | 1.16 (0.98‐1.37) | ||||
| P | 4.25 × 10−21 | 1.14 × 10−13 | 0.11 | 0.08 | ||||
| Meta‐analysis | ||||||||
| OR (95% CI) | 3.89 (3.05‐4.96) | 2.90 (2.34‐3.66) | 0.55 (0.42‐0.72) | 1.29 (1.15‐1.47) | ||||
| P | 5.78 × 10−28 | 3.27 × 10−22 | 1.71 × 10−5 | 3.96 × 10−5 | ||||
Abbreviations: A1, minor allele; A2, major allele.