title: Alpha 1-antichymotrypsin mutations in patients with chronic obstructive pulmonary disease.
abstract: Mutations in the alpha 1-antichymotrypsin gene have been described which result in reduced levels of alpha 1-antichymotrypsin in the serum. Previous studies have suggested that two of these mutations (Pro227-->Ala and Leu55-->Pro) predispose to chronic obstructive pulmonary disease (COPD). We have investigated the prevalence of these mutations in 168 COPD patients and 61 controls without airflow obstruction. The prevalence of the Pro227-->Ala mutation was 0.9% and it was not associated with impaired lung function. None of the subjects had the Leu55-->Pro mutation.
authors.affiliation: Respiratory Health Network of Centres of Excellence, University of British Columbia Pulmonary, Vancouver, Canada. asandford@prl.pulmonary.ubc.ca
authors.forename: A J
authors.initials: AJ
authors.lastname: Sandford
authors.forename: T
authors.initials: T
authors.lastname: Chagani
authors.forename: T D
authors.initials: TD
authors.lastname: Weir
authors.forename: P D
authors.initials: PD
authors.lastname: Paré
mesh_terms: D000409:Alanine / Q000235:genetics; D005838:Genotype; D006801:Humans; D008173:Lung Diseases, Obstructive / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D011392:Proline / Q000235:genetics; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*
chemical_list: D000514:alpha 1-Antichymotrypsin; D011392:Proline; D000409:Alanine