Alpha1-antitrypsin as a risk for infant and adult respiratory outcomes in a national birth cohort

Am J Respir Cell Mol Biol. 2004 Nov;31(5):559-64. doi: 10.1165/rcmb.2004-0027OC. Epub 2004 Jul 22.


Reduced alpha1-antitrypsin (AAT) encoded by the gene SERPINA1 is a potential risk for pulmonary disease. We investigated SERPINA1 polymorphism as a risk for infant and adult pulmonary morbidity, and adult respiratory function and its change between 43 and 53 yr. We used data on a British national representative sample (n = 5,362) studied since birth in 1946 to age 53 yr (when n = 3,035), when DNA was first obtained. SERPINA1 Z and, to a lesser extent, S carriers had an increased risk of infant lower respiratory infection compared with those who were neither S nor Z carriers (Z carriers: odds ratio = 2.32, 95% confidence interval = 1.37-3.92; S but not Z carriers odds ratio = 1.58, 95% confidence interval = 1.10-2.28) after adjustment for environmental, socioeconomic, and developmental factors, and breast-feeding. There was no difference in the adult outcomes at 53 yr according to genotype, nor was there any association of genotype with change in forced expiratory volume at 1 s between 43 and 53 yr. Lower alpha1-antitrypsin, as indicated by carrier status for the Z and S alleles, was a risk for infant lower respiratory infection, but not for adult respiratory outcomes.

MeSH terms

  • Adult
  • Alleles
  • Cohort Studies
  • DNA / metabolism
  • Female
  • Forced Expiratory Volume
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Odds Ratio
  • Phenotype
  • Polymorphism, Genetic*
  • Respiratory Tract Infections / genetics
  • Respiratory Tract Infections / metabolism
  • Risk
  • Spirometry
  • Time Factors
  • alpha 1-Antitrypsin / genetics*


  • SERPINA1 protein, human
  • alpha 1-Antitrypsin
  • DNA