Obstructive pulmonary disease is a multifactorial condition deriving from the interaction of environmental and genetic factors. From biochemical knowledge of the basis of the disease, α1-antitrypsin and α1-antichymotrypsin are considered two likely candidate genes. We therefore designed an association study comprising 232 unrelated Italian individuals divided as follows: 89 individuals with obstructive lung disease (66 with COPD and 23 with disseminated bronchiectasis) and 143 controls (45 patients with non-obstructive lung disease and 98 healthy individuals). We screened for Taq I (G1237A) polymorphism of the α1-antitrypsin gene as well as the rare variants Bonn-1 (Pro229Ala), Bochum-1 (Leu55Pro), Isehara-1 (Met389Val) and Isehara-2 (1258delAA),and the common signal peptide polymorphism Thr-15Ala of the α1-antichymotrypsin gene. The frequencies of Taq I G1237A alleles were 11.7 and 10.8% in obstructed patients and controls, respectively (P = 0.43), while those of signal peptide Thr-15Ala alleles were 51.6 and 50.3% in obstructed patients and controls, respectively (P = 0.42). We conclude that α1-antitrypsin Tag I polymorphism and α1-antichymotrypsin Thr-15Ala mutation are not major genetic risk factors for the development of obstructive lung disease in Italian patients. The α1-antichymotrypsin rare variants were not detected: our results do not exclude the possibility that other α1-antichymotrypsin gene mutations might be present in Italian obstructed patients but, if so, these genetic defects must be rare.
Benetazzo, M. G., Gilè, L. S., Bombieri, C., Malerba, G., Massobrio, M., Pignatti, P. F., & Luisetti, M. (1999). α1-Antitrypsin TAQ I polymorphism and α1-antichymotrypsin mutations in patients with obstructive pulmonary disease. Respiratory Medicine, 93(9), 648–654. https://doi.org/10.1016/S0954-6111(99)90105-1