Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk

Thorax. 2004 Mar;59(3):259-64. doi: 10.1136/thx.2003.006502.

Abstract

The genetic aspects of AAT deficiency and the variable manifestations of lung disease in PI Z individuals are reviewed. The role of modifying genetic factors which may interact with environmental factors (such as cigarette smoking) is discussed, and directions for future research are presented.

Publication types

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

MeSH terms

  • Genetic Predisposition to Disease
  • Genotype
  • Heterozygote
  • Humans
  • Pedigree
  • Phenotype
  • Pulmonary Emphysema / genetics*
  • Risk Factors
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin Deficiency / genetics*

Substances

  • alpha 1-Antitrypsin