α1-Antichymotrypsin Mutations In Patients With Chronic Obstructive Pulmonary Disease
Keyword(s):
Mutations in the α1-antichymotrypsin gene have been described which result in reduced levels of α1-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.
2020 ◽
2020 ◽
2021 ◽
pp. 190-195