Pulmonary function tests (PFTs) in study participants

PFT abnormalitiesPatients with DCUnaffected relativesPatients versus relatives
AllXLR, AR, TINF2AD non-TINF2p-valueAllRTEL1, TERT, PARNAll othersp-valueOR (95% CI)p-value
Number with spirometry#432514671453
Spirometry abnormal12841.0111100.41.97 (0.77–4.9)0.159
 Obstructive2111.07161.00.4 (0.08–2)0.47
 Restrictive10730.74040.64.7 (1.3–16.3)0.016
Number with DLCO data4224141.0661452
 Mild DLCO change231280.7335280.41.2 (0.5–2.6)0.695
 Moderate DLCO abnormality11831.05230.35.4 (1.7–16.7)0.003
 Severe DLCO abnormality211000
Abnormal spirometry and/or moderate/severe DLCO reduction181261.0122101.03.3 (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.