Table 1.
Demographic and Clinical Profiles of Discovery and Validation Cohorts
| Study Cohort* | Discovery Cohort (Ncounter) | Validation Cohort (Microarray) | P Value |
|---|---|---|---|
| CF probands | n = 12 | n = 103 | |
| Age, yr† | 15.5 (2.0–43.4) | 14.2 (2.0–53.4) | 0.924 |
| Sex | 0.226 | ||
| M | 3 (25.0) | 47 (45.6) | |
| F | 9 (75.0) | 56 (54.4) | |
| Genotype | 0.180 | ||
| F508del homozygous | 7 (58.3) | 63 (61.2) | |
| F508del heterozygous | 3 (25.0) | 36 (35.0) | |
| F508del absent | 2 (16.7) | 4 (3.9) | |
| Pancreatic status | >0.999 | ||
| Pancreatic insufficiency | 10 (83.3) | 87 (84.5) | |
| Pancreatic sufficiency | 2 (16.7) | 16 (15.5) | |
| Pseudomonas aeruginosa infection within 6 mo | 0.584 | ||
| Yes | 6 (50.0) | 43 (41.8) | |
| No | 6 (50.0) | 60 (58.3) | |
| Sweat chloride, mEq/L | 106.0 (35.4–142.0) (n = 11) | 106.0 (27.7–142.0) (n = 96) | 0.655 |
| FEV1%‡ | 88.0 (56.0–127.0) (n = 11) | 102.0 (46.0–136.0) (n = 94) | 0.451 |
| FEV1% of P. aeruginosa–positive probands‡ | 86.0 (56.0–104.0) (n = 6) | 92.0 (46.0–136.0) (n = 41) | 0.426 |
| FEV1% of P. aeruginosa–negative probands‡ | 110.0 (64.0–127.0) (n = 5) | 104.0 (63.0–128.0) (n = 53) | 0.647 |
| Healthy controls | n = 12 | n = 31 | |
| Age, yr† | 20.5 (6.3–33.2) | 16.5 (6.3–38.5) | 0.705 |
| Sex | 0.775 | ||
| M | 6 (50.0) | 14 (45.2) | |
| F | 6 (50.0) | 17 (54.8) |
Definition of abbreviations: CF = cystic fibrosis; FEV1 = forced expiratory volume in 1 second
*
Data reported as n (%) or median (minimum-maximum).
†
Age at sample collection.
‡
Median FEV1% predicted.