Gene polymorphisms and chronic obstructive pulmonary disease

J Cell Mol Med. 2014 Jan;18(1):15-26. doi: 10.1111/jcmm.12159. Epub 2013 Nov 21.

Abstract

The genetic component was suggested to contribute to the development of chronic obstructive pulmonary disease (COPD), a major and growing public health burden. The present review aims to characterize the evidence that gene polymorphisms contribute to the aetiology of COPD and related traits, and explore the potential relationship between certain gene polymorphisms and COPD susceptibility, severity, lung function, phenotypes, or drug effects, even though limited results from related studies lacked consistency. Most of these studies were association studies, rather than confirmatory studies. More large-sized and strictly controlled studies are needed to prove the relationship between gene polymorphisms and the reviewed traits. More importantly, prospective confirmatory studies beyond initial association studies will be necessary to evaluate true relationships between gene polymorphisms and COPD and help individualized treatment for patients with COPD.

Keywords: COPD; biomarkers; chronic lung diseases; gene; polymorphism; therapy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Disease Progression
  • Epoxide Hydrolases / genetics
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Glutathione Transferase / genetics
  • Humans
  • Polymorphism, Single Nucleotide*
  • Pulmonary Disease, Chronic Obstructive / drug therapy
  • Pulmonary Disease, Chronic Obstructive / genetics*
  • Pulmonary Disease, Chronic Obstructive / pathology
  • Transforming Growth Factor beta1 / genetics
  • Tumor Necrosis Factor-alpha / genetics
  • alpha 1-Antitrypsin / genetics

Substances

  • Transforming Growth Factor beta1
  • Tumor Necrosis Factor-alpha
  • alpha 1-Antitrypsin
  • Glutathione Transferase
  • Epoxide Hydrolases