Figures
- FIGURE 1
a) Forced expiratory volume in 1 s (FEV1) and b) FEV1/forced vital capacity (FVC) ratio in index and non-index patients with PI*SZ α1-antitrypsin deficiency included in the Danish α1-antitrypsin deficiency register. Data from [14].
- FIGURE 2
a) Isoelectric focusing electrophoresis of a rare Mmalton variant (homozygous) showing unusual M-like and Z-like bands, which was confirmed by b) DNA sequencing. Data from the Irish National Targeted Detection Programme (courtesy of N.G. McElvaney).
Tables
- TABLE 1
Indications for adult lung transplants between January 1995 and June 2012
Diagnosis Total# COPD/emphysema 12 602 (33.5) Idiopathic pulmonary fibrosis 8904 (23.7) Cystic fibrosis 6231 (16.6) α1-antitrypsin deficiency 2182 (5.8) Idiopathic pulmonary arterial hypertension 1160 (3.1) Other pulmonary fibrosis 1383 (3.7) Bronchiectasis 1015 (2.7) Sarcoidosis 954 (2.5) Re-transplantation: obliterative bronchiolitis 568 (1.5) Connective tissue disease 488 (1.3) Obliterative bronchiolitis¶ 396 (1.1) Lymphangioleiomyomatosis 391 (1.0) Re-transplantation+ 402 (1.1) Congenital heart disease 325 (0.9) Cancer 36 (0.1) Other 544 (1.4) Data are presented as n (%). COPD: chronic obstructive pulmonary disease #: n = 37 581; ¶: not re-transplantation; +: not obliterative bronchiolitis. Reproduced with modification from [11] with permission from the publisher.
- TABLE 2
Results from a family-based study to determine the risk of chronic obstructive pulmonary disease in PI*MM and PI*MZ individuals
Genotype p-value PI*MM# PI*MZ¶ FEV1/FVC Never-smoker 0.81 (0.75–0.85) 0.77 (0.73–0.83) ns Ever-smoker 0.77 (0.72–0.81) 0.71 (0.58–0.77) 0.0013 FEV1 % predicted Never-smoker 101.3 (88.7–110.6) 102.2 (88.3–108.4) ns Ever-smoker 94.8 (82.1–102.4) 82.3 (63.1–94.4) 0.0009 FEF25–75% % predicted Never-smoker 84.1 (70.7–100.8) 76.1 (63.6–99.4) ns Ever-smoker 64.8 (52.2–90.2) 47.7 (22.7–66.8) 0.0002 Data are presented as median (interquartile range). FEV1: forced expiratory volume in 1 s; FVC: forced vital capacity; FEF25–75%: forced expiratory flow at 25–75% of FVC; ns: nonsignificant. #: n=99; ¶: n=89. Reproduced from [13] with permission from the publisher.
- TABLE 3
Rare α1-antitrypsin variants detected during screening of >12 000 patients in Ireland
Mutation Molecular basis Patients n Cellular effect Disease risk I Arg39Cys 107 Intracellular accumulation Lung and liver F Arg223Cys 40 Reduced antiprotease activity Lung Mmalton ΔPhe51 6 Intracellular accumulation and polymerisation Lung and liver Mwurzburg Pro369Ser 1 No AAT produced Lung and liver Q0dublin 370Phe - ΔT - 373Stop 4 No AAT produced Lung Q0bolton 362Pro - ΔC - 373Stop 2 No AAT produced Lung Q0cork 180Thr - ΔAC - 190Stop 1 No AAT produced Lung AAT: α1-antitrypsin. Data from the Irish National Targeted Detection Programme (courtesy of N.G. McElvaney).
Disclosures
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