Pulmonary function in heterozygotes for alpha,-antitrypsin deficiency: a case-control study

Am Rev Respir Dis. 1979 Oct;120(4):759-66. doi: 10.1164/arrd.1979.120.4.759.


In this paper we present the initial cross-sectional data from a prospective study of lung aging in heterozygotes for alpha 1-antitrypsin deficiency. Using a case-control design, our cases included 37 heterozygotes for alpha 1-antitrypsin deficiency, protease inhibitor phenotypes MZ and MS, selected because they were parents of children with homozygous alpha 1-antitrypsin deficiency identified in a statewide newborn screening program between 1971 and 1974. All of the heterozygotes were less than 40 yr of age. Our control subjects were selected from a random sample of a working population participating in a longitudinal study of lung aging, using a 2:1 match of control subjects to cases, matching age, sex, ethnic origin, and smoking. Using a respiratory symptom questionnaire, spirometry, and the single-breath N2 test, we found no significant difference between heterozygotes and control subjects in terms of respiratory symptoms or pulmonary function data. We conclude that to 40 yr of age, the heterozygous phenotype (Pi MZ and MS) is not a risk factor for impairment of pulmonary function.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Closing Volume
  • Female
  • Heterozygote
  • Humans
  • Male
  • Mass Screening
  • Phenotype
  • Pulmonary Emphysema / blood
  • Pulmonary Emphysema / genetics*
  • Residual Volume
  • Respiration*
  • Risk
  • Smoking / physiopathology
  • Spirometry
  • Total Lung Capacity
  • alpha 1-Antitrypsin Deficiency*