Candidate genes for COPD: current evidence and research

Int J Chron Obstruct Pulmon Dis. 2015 Oct 19:10:2249-55. doi: 10.2147/COPD.S80227. eCollection 2015.


COPD is a common complex disease characterized by progressive airflow limitation. Several genome-wide association studies (GWASs) have discovered genes that are associated with COPD. Recently, candidate genes for COPD identified by GWASs include CHRNA3/5 (cholinergic nicotine receptor alpha 3/5), IREB2 (iron regulatory binding protein 2), HHIP (hedgehog-interacting protein), FAM13A (family with sequence similarity 13, member A), and AGER (advanced glycosylation end product-specific receptor). Their association with COPD susceptibility has been replicated in multiple populations. Since these candidate genes have not been considered in COPD, their pathological roles are still largely unknown. Herein, we review some evidences that they can be effective drug targets or serve as biomarkers for diagnosis or subtyping. However, more study is required to understand the functional roles of these candidate genes. Future research is needed to characterize the effect of genetic variants, validate gene function in humans and model systems, and elucidate the genes' transcriptional and posttranscriptional regulatory mechanisms.

Keywords: chronic obstructive pulmonary disease; genetics; genome-wide association study.

Publication types

  • Review

MeSH terms

  • Carrier Proteins / genetics*
  • GTPase-Activating Proteins / genetics*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Iron Regulatory Protein 2 / genetics*
  • Membrane Glycoproteins / genetics*
  • Pulmonary Disease, Chronic Obstructive / genetics*
  • Receptor for Advanced Glycation End Products / genetics*
  • Receptors, Nicotinic / genetics


  • AGER protein, human
  • Carrier Proteins
  • FAM13A protein, human
  • GTPase-Activating Proteins
  • HHIP protein, human
  • Membrane Glycoproteins
  • Receptor for Advanced Glycation End Products
  • Receptors, Nicotinic
  • nicotinic receptor subunit alpha3
  • Iron Regulatory Protein 2