Genetic susceptibility

Clin Chest Med. 2014 Mar;35(1):29-38. doi: 10.1016/j.ccm.2013.10.008. Epub 2013 Dec 12.

Abstract

Why only 20% of smokers develop clinically relevant chronic obstructive pulmonary disease (COPD) was a puzzle for many years. Now, epidemiologic studies point clearly toward a large heritable component. The combination of genome-wide association studies and candidate gene analysis is helping to identify those genetic variants responsible for an individual's susceptibility to developing COPD. In this review, the current data implicating specific loci and genes in the pathogenesis of COPD are examined.

Keywords: COPD; Emphysema; GWAS; Genetics; SNP.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Disease Susceptibility
  • Elastin / genetics
  • Extracellular Matrix / physiology
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Mutation
  • Peptide Hydrolases / physiology
  • Protease Inhibitors
  • Pulmonary Disease, Chronic Obstructive / genetics*
  • Reactive Oxygen Species / adverse effects
  • alpha 1-Antitrypsin / genetics

Substances

  • Protease Inhibitors
  • Reactive Oxygen Species
  • alpha 1-Antitrypsin
  • Elastin
  • Peptide Hydrolases