Table 3.
Associations of polymorphisms in RAAS genes with disease severity (as assessed by hemodynamic parameters obtained by right heart catheterization). Categories of PAH include IPAH, PAH/CTD, PAH anorexigen exposure, and all 3 categories of PAH analyzed collectively. Values listed are mean +/− standard deviation with the number of subjects indicated in parentheses. None of the associations remained significant after correction for multiple testing.
| Phenotype | Disease | Gene | Genotypes | p | ||
|---|---|---|---|---|---|---|
| ACE | DD | DI | II | |||
| Mixed venous oxygen saturation (%) | PAH/CTD | 63 +/− 9 (15) | 53 +/− 11 (17) | 65 +/− 8 (10) | 0.04 | |
| Systemic arterial oxygen saturation (%) | PAH/CTD | 94 +/− 3 (15) | 90 +/− 6 (17) | 94 +/− 5 (10) | 0.01 | |
| Mixed venous oxygen saturation (%) | All PAH | 62 +/− 10 (72) | 59 +/− 11 (81) | 64 +/− 10 (42) | 0.05 | |
| AGT | T/T | T/C | C/C | |||
| SAPm (mmHg) | IPAH | 80 +/− 14 (47) | 84 +/− 14 (67) | 77 +/− 16 (39) | 0.03 | |
| Systemic arterial oxygen saturation (%) | PAH/CTD | 89 +/− 6 (8) | 92 +/− 5 (24) | 95 +/− 3 (9) | 0.04 | |
| Pulmonary vascular resistance index (U · m2) | PAH/CTD | 29 +/− 13 (6) | 16 +/− 8 (21) | 26 +/− 19 (9) | 0.03 | |
| CMA1 | A/A | A/G | G/G | |||
| Cardiac index (l/min/m2) | All PAH | 2.5 +/− 1.3 (21) | 3.2 +/− 1.6 (34) | 2.4 +/− 0.9 (26) | 0.03 | |
| IPAH | 2.4 +/− 1.2 (24) | 3.2 +/− 1.6 (36) | 2.4 +/− 0.9 (26) | 0.02 | ||
| IPAH/anorexigens | 2.4 +/− 1.2 (35) | 2.9 +/− 1.4 (50) | 2.3 +/− 0.9 (42) | 0.03 | ||
| AGTR1 | A/A | A/C | C/C | |||
| SAPm (mmHg) | IPAH | 80 +/− 15 (86) | 82 +/− 14 (60) | 95 +/− 10 (5) | 0.04 |