title: alpha 1-antitrypsin TAQ I polymorphism and alpha 1-antichymotrypsin mutations in patients with obstructive pulmonary disease.
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, alpha 1-antitrypsin and alpha 1-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 alpha 1-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 alpha 1-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 alpha 1-antitrypsin Taq I polymorphism and alpha 1-antichymotrypsin Thr-15Ala mutation are not major genetic risk factors for the development of obstructive lung disease in Italian patients. The alpha 1-antichymotrypsin rare variants were not detected: our results do not exclude the possibility that other alpha 1-antichymotrypsin gene mutations might be present in Italian obstructed patients but, if so, these genetic defects must be rare.
authors.affiliation: Istituto di Biologia e Genetica, Università degli Studi di Verona, Italy.
authors.forename: M G
authors.initials: MG
authors.lastname: Benetazzo
authors.forename: L S
authors.initials: LS
authors.lastname: Gilè
authors.forename: C
authors.initials: C
authors.lastname: Bombieri
authors.forename: G
authors.initials: G
authors.lastname: Malerba
authors.forename: M
authors.initials: M
authors.lastname: Massobrio
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
authors.forename: M
authors.initials: M
authors.lastname: Luisetti
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D007558:Italy; D008173:Lung Diseases, Obstructive / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012307:Risk Factors; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000514:alpha 1-Antichymotrypsin; D000515:alpha 1-Antitrypsin