Genes and chronic obstructive pulmonary disease

Med Clin North Am. 2012 Jul;96(4):699-711. doi: 10.1016/j.mcna.2012.02.006. Epub 2012 Mar 6.


Although much remains to be done, recent advances and the advent of new methodologies are promising and should yield increased understanding of the genetic and epigenetic mechanisms influencing the pathogenesis of COPD, both related and unrelated to severe AAT deficiency. Such understanding should ultimately be translated into novel approaches to prevent, diagnose, and treat COPD.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Epigenesis, Genetic
  • Forced Expiratory Volume / genetics
  • Genetic Markers
  • Genome-Wide Association Study
  • Humans
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Pulmonary Disease, Chronic Obstructive / etiology
  • Pulmonary Disease, Chronic Obstructive / genetics*
  • Risk Factors
  • Smoking / adverse effects
  • Vital Capacity / genetics
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin Deficiency / complications*
  • alpha 1-Antitrypsin Deficiency / diagnosis
  • alpha 1-Antitrypsin Deficiency / genetics
  • alpha 1-Antitrypsin Deficiency / therapy


  • Genetic Markers
  • SERPINA1 protein, human
  • alpha 1-Antitrypsin