PMID: 9553741Apr 29, 1998Paper

Alpha 1-antichymotrypsin mutations in patients with chronic obstructive pulmonary disease

Disease Markers
A J SandfordP D Paré

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.

Citations

Dec 22, 2007·American Journal of Respiratory Cell and Molecular Biology·Taras ManolovKristian Riesbeck
Feb 15, 2002·Current Opinion in Pulmonary Medicine·Andrew J SandfordPeter D Paré
Jul 3, 2021·International Journal of Molecular Sciences·Gillian A Kelly-RobinsonS Lorraine Martin

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