Alpha 1-antichymotrypsin mutations in patients with chronic obstructive pulmonary disease.
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.
Sandford
A J
AJ
Respiratory Health Network of Centres of Excellence, University of British Columbia Pulmonary, Vancouver, Canada. asandford@prl.pulmonary.ubc.ca
Chagani
T
T
Weir
T D
TD
Paré
P D
PD
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*
D000514:alpha 1-Antichymotrypsin; D011392:Proline; D000409:Alanine