Thorax 67:271-273 doi:10.1136/thoraxjnl-2011-200724
  • Chest clinic
  • Basic science for the chest physician

Genome-wide association studies in lung disease

  1. Martin D Tobin
  1. Departments of Health Sciences and Genetics, University of Leicester, University Road, Leicester, UK
  1. Correspondence to María Soler Artigas, 2nd Floor, Adrian Building, University of Leicester, Leicester LE1 7RH, UK; msa20{at}
  1. Contributors The literature review and drafting of the manuscript was wholly undertaken by the named authors.

  • Received 1 July 2011
  • Accepted 18 July 2011
  • Published Online First 19 August 2011


Genome-wide association studies (GWAS) have provided new insights into the molecular mechanisms of lung function and lung diseases. GWAS, and studies that build upon their findings, will continue to provide evidence aimed at advancing understanding of lung disease. This paper summarises the key features of a GWAS, references some recent findings and discusses how the chest physician can interpret the validity and utility of future GWAS and related studies.


  • Funding This work was supported by the Medical Research Council (G0902313).

  • Competing interests None.

  • Provenance and peer review Commissioned; internally peer reviewed.