Description
Chronic obstructive pulmonary disease (COPD) is defined by the Global Initiative for Chronic Obstructive Lung Disease (GOLD) as a disease state characterized by airflow limitation that is not fully reversible. Cigarette smoking is the most important risk factor for the development of COPD. Although the dose-response relationship between cigarette smoking and pulmonary function is well-established, there is considerable variability in the reduction in FEV1 among smokers with similar smoking exposures. The low percentage of variance in pulmonary function explained by smoking suggests that there could be genetic differences in susceptibility to the effects of cigarette smoking. In addition to genetic factors, other environmental determinants such as indoor biomass smoke exposure can be important risk factors for COPD . A small percentage of COPD patients (estimated at 1-2%) inherit severe alpha-1 antitrypsin (AAT) deficiency, which proves that genetic factors can in-fluence COPD susceptibility. The discovery of AAT deficiency was a major factor in the development of the Protease-Antiprotease Hypothesis for COPD, which has been one of the prevailing models of disease pathogenesis for more than 40 years. With the substantial impact of AAT deficiency on our understanding of COPD pathogenesis, it was natural to hope that the identification of other COPD susceptibility genes would lead to similar novel insights into COPD. Until recently, however, progress in the identification of additional genetic risk factors for COPD has been slow.
To facilitate the development of such research, an international meeting of COPD genetics investigators was held on July 13-14, 2010 in Boston. The goals of the meeting were:
- To review the current state of COPD genetics research
- To discuss existing study populations for COPD genetics research throughout the world
- To consider opportunities for collaborations between different COPD research groups through an International COPD Genetics Consortium
- To recognize challenges in building COPD genetics collaborations and to discuss them openly
- To develop a framework for future collaborative studies