α1-Antitrypsin TAQ I polymorphism and α1-antichymotrypsin mutations in patients with obstructive pulmonary disease

M. G. Benetazzo, L. S. Gilè, C. Bombieri, G. Malerba, M. Massobrio, P. F. Pignatti, M. Luisetti

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)648-654
Number of pages7
JournalRespiratory Medicine
Volume93
Issue number9
DOIs
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

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