Table 1.
Patient Characteristics for the Exome Discovery and Replication Cohorts*
| Exome Discovery | Replication | |||||
|---|---|---|---|---|---|---|
|
| ||||||
| SSc-PAH− | SSc-PAH+ | All SSc | SSc-PAH− | SSc-PAH+ | All SSc | |
| Demographics | ||||||
| No. of Subjects | 35 | 43 | 78 | 323 | 92 | 415 |
| Age, years (mean ± SD) | 69.6±5.4 | 61.9±11.8 | 65.3±10.2 | 56.2±12.3; | 62.3±10.3 | 57.5±12.1* |
| Female, N (%) | 28 (80.0%) | 37 (86.0%) | 65 (83.3%) | 276 (85.4%) | 79 (85.9%) | 355 (85.5%) |
| Age of onset at SSc | ||||||
| Years (mean± SD); N | 54.4±10. 8; 35 | 47.5±13. 5; 43 | 51.0±12.7; 78 | 43.1±12.5; 318 | 49.9±13. 5; 89 | 44.6±13.0 *; 407 |
| Older adult Onset (≥40 yrs), N (%) | 33/35 (94.3%) | 30/43 (69.8%) | 63/78 (80.8%) | 194/318 (61.0%) | 71/89 (79.8%) | 265/407 (65.1%)* |
| Type of SSc | ||||||
| Diffuse/limited, N (%); Total | 6/ 29 (17.1%); 35 | 5/ 29 (12.2%); 41 | 11/ 58 (14.4%); 76 | 105/211 (33.2%); 311 | 8/50 (11.1%); 72 | 113/261 (29.5%); 383 |
All numeric measurements are displayed as mean ± SD; actual number of subjects (N) available for each variable was also shown;
*
P < 2.2 x 10−16 from t-tests (for Age, Age of onset at SSc and Older adult onset) comparing the ‘All SSc’ group in the replication to the exome discovery cohort.