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

Dis Markers. 1998 Feb;13(4):257-60. doi: 10.1155/1998/867620.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alanine / genetics
  • Genotype
  • Humans
  • Lung Diseases, Obstructive / enzymology
  • Lung Diseases, Obstructive / genetics*
  • Mutation*
  • Proline / genetics
  • alpha 1-Antichymotrypsin / genetics*


  • alpha 1-Antichymotrypsin
  • Proline
  • Alanine