Table 1. Genotype frequency of CHRNA7 CNV-3956 in cases and controls and its associations with COPD and lung cancer risks.
| Southern Chinese (discovery set) | Eastern Chinese (validation set) | Pooled set | |||||||
|---|---|---|---|---|---|---|---|---|---|
| CNV-3956 genotypesa | Cases, n (%) | Controls, n (%) | Adjusted OR (95% CI)b | Cases, n (%) | Controls, n (%) | Adjusted OR (95% CI)b | Cases, n (%) | Controls, n (%) | Adjusted OR (95% CI)b |
| COPD studies | 1025 | 1061 | 766 | 879 | 1791 | 1940 | |||
| 2-Copy | 589 (58.4) | 707 (67.5) | 1.00 (ref.) | 443 (58.6) | 571 (66.2) | 1.00 (ref.) | 1032 (58.5) | 1278 (66.9) | 1.00 (ref.) |
| 3-Copy | 147 (14.6) | 129 (12.3) | 1.38 (1.06–1.80) | 102 (13.5) | 103 (12.0) | 1.28 (0.94–1.74) | 249 (14.1) | 232 (12.2) | 1.34 (1.10–1.64) |
| ≥4-Copy | 273 (27.0) | 212 (20.2) | 1.53 (1.23–1.89) | 211 (27.9) | 188 (21.8) | 1.50 (1.18–1.90) | 484 (27.4) | 400 (20.9) | 1.51 (1.29–1.77) |
| Trend test P-value | 4.41 × 10−5 | 0.001 | 1.00 × 10−7 | ||||||
| 2/3-Copy | 736 (72.9) | 836 (79.8) | 1.00 (ref.) | 545 (72.1) | 674 (78.2) | 1.00 (ref.) | 1281 (72.6) | 1510 (79.1) | 1.00 (ref.) |
| ≥4-Copy | 273 (27.1) | 212 (20.2) | 1.44 (1.17–1.78) | 211 (27.9) | 188 (21.8) | 1.44 (1.14–1.81) | 484 (27.4) | 400 (20.9) | 1.44 (1.23–1.68) |
| Lung cancer studies | 1056 | 1056 | 1016 | 1021 | 2072 | 2077 | |||
| 2-Copy | 591 (57.1) | 666 (64.0) | 1.00 (ref.) | 570 (58.2) | 645 (63.7) | 1.00 (ref.) | 1161 (57.6) | 1311 (63.9) | 1.00 (ref.) |
| 3-Copy | 144 (13.9) | 151 (14.5) | 1.11 (0.86–1.43) | 127 (13.0) | 150 (14.8) | 0.98 (0.75–1.28) | 271 (13.5) | 301 (14.6) | 1.03 (0.86–1.24) |
| ≥4-Copy | 301 (29.0) | 224 (21.5) | 1.50 (1.22–1.85) | 282 (28.8) | 217 (21.4) | 1.51 (1.22–1.87) | 583 (28.9) | 441 (21.5) | 1.50 (1.30–1.74) |
| Trend test P-value | 0.001 | 4.00 × 10−4 | 2.97 × 10−7 | ||||||
| 2/3-Copy | 735 (71.0) | 817 (78.5) | 1.00 (ref.) | 697 (71.2) | 795 (78.6) | 1.00 (ref.) | 1432 (71.1) | 1612 (78.5) | 1.00 (ref.) |
| ≥4-Copy | 301 (29.0) | 224 (21.5) | 1.47 (1.20–1.80) | 282 (28.8) | 217 (21.4) | 1.52 (1.23–1.87) | 583 (28.9) | 441 (21.5) | 1.49 (1.29–1.73) |
a
The success rate of genotyping was 98.2%.
b
Adjusted in a logistic regression model with age, sex, pack-years smoked, biomass fueling and sets as covariables. Bold entries indicate a statistical significance.