Pulmonary function tests (PFTs) in study participants
| PFT abnormalities | Patients with DC | Unaffected relatives | Patients versus relatives | |||||||
| All | XLR, AR, TINF2 | AD non-TINF2 | p-value | All | RTEL1, TERT, PARN | All others | p-value | OR (95% CI) | p-value | |
| Number with spirometry# | 43 | 25 | 14 | 67 | 14 | 53 | ||||
| Spirometry abnormal | 12 | 8 | 4 | 1.0 | 11 | 1 | 10 | 0.4 | 1.97 (0.77–4.9) | 0.159 |
| Obstructive | 2 | 1 | 1 | 1.0 | 7 | 1 | 6 | 1.0 | 0.4 (0.08–2) | 0.47 |
| Restrictive | 10 | 7 | 3 | 0.7 | 4 | 0 | 4 | 0.6 | 4.7 (1.3–16.3) | 0.016 |
| Mixed | 0 | 0 | 0 | 0 | 0 | 0 | ||||
| Number with DLCO data | 42 | 24 | 14 | 1.0 | 66 | 14 | 52 | |||
| Mild DLCO change | 23 | 12 | 8 | 0.7 | 33 | 5 | 28 | 0.4 | 1.2 (0.5–2.6) | 0.695 |
| Moderate DLCO abnormality | 11 | 8 | 3 | 1.0 | 5 | 2 | 3 | 0.3 | 5.4 (1.7–16.7) | 0.003 |
| Severe DLCO abnormality | 2 | 1 | 1 | 0 | 0 | 0 | ||||
| Abnormal spirometry and/or moderate/severe DLCO reduction | 18 | 12 | 6 | 1.0 | 12 | 2 | 10 | 1.0 | 3.3 (1.3–7.8) | 0.008 |
DC: dyskeratosis congenita; XLR: X-linked recessive; AR: autosomal recessive; AD: autosomal dominant; DLCO: diffusing capacity of the lung for carbon monoxide. #: the number of patients with XLR/AR/TINF2 and AD non-TINF2 do not add up to the total of 43 because the causative gene was not identified in four patients. Significant odds ratios and p-values are in bold.