The new genetics and chronic obstructive pulmonary disease

COPD. 2008 Aug;5(4):257-64. doi: 10.1080/15412550802237556.


Epidemiological and family studies provide evidence for genetic factors contributing to chronic obstructive airways disease (COPD) susceptibility. Studies to date have focused on candidate genes implicated in the pathogenesis of the disease. In general, many of these studies have been underpowered or have not been extensive enough in investigating the full extent of genetic variation in these genes. This has resulted in conflicting data with potential false positives or findings that have not been replicated. More recently, larger studies and extensive coverage of candidate genes have implicated genetic variants that may contribute to the disease. The use of unbiased genome-wide association studies offer the prospect of identifying new genes involved in COPD susceptibility and genetic modifiers of disease phenotypes. There is cause for optimism as a number of major complex diseases have been successfully tackled in this way. The review will highlight what has been achieved by genetic studies to date, some of the related problems and the future impact of high throughput technologies such as genome-wide association studies on our understanding of the genetic basis of COPD.

Publication types

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

MeSH terms

  • Bayes Theorem
  • Case-Control Studies
  • Female
  • Forecasting
  • Genetic Predisposition to Disease / epidemiology*
  • Genetic Variation
  • Genotype
  • Heterozygote
  • Humans
  • Linkage Disequilibrium*
  • Male
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Prognosis
  • Pulmonary Disease, Chronic Obstructive / diagnosis
  • Pulmonary Disease, Chronic Obstructive / epidemiology
  • Pulmonary Disease, Chronic Obstructive / genetics*
  • Respiratory Function Tests
  • Risk Assessment
  • Sensitivity and Specificity
  • Severity of Illness Index
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin Deficiency / genetics


  • alpha 1-Antitrypsin