Table 2. Association of PTGIS Rare Variants With Pulmonary Arterial Hypertension.
| Nucleotide change | Cohort, No. of participants | No. (%) of participants | P valuea | OR (95% CI)a | ||
|---|---|---|---|---|---|---|
| Discovery (n = 42) | Replication (n = 188) | Combined cases (n = 230) | Controls (n = 968) | |||
| c. 521 + 1 G>A | 1 | 0 | 1 (0.4) | 0 | NE | NE |
| c. 755 G>A | 0 | 5 | 5 (2.2) | 2 (0.2) | .005 | 10.7 (2.1-55.7) |
| c. 1339 G>A | 2 | 6 | 8 (3.5) | 6 (0.6) | .001 | 5.8 (2.0-16.8) |
| Combined | 3 | 11 | 14 (6.1) | 8 (0.8) | 5 × 10−6 | 7.8 (3.2-18.8) |
Abbreviations: NE, not estimable; OR, odds ratio; PTGIS, prostacyclin synthase.
a
Calculated with the logistic regression model.