The Role of Gene Polymorphisms in the Exacerbation and Prognosis of Chronic Obstructive Pulmonary Disease (Copd)

The best-documented genetic risk factor is the severe hereditary deficiency of alpha-1 antitrypsin 26, an important serum protease inhibitor. Although alpha-1 antitrypsin deficiency is only relevant for a small part of the world population, it is an example of gene interaction and environmental exposure leading to COPD [2]. Authors have confirmed that a first important step to assess the complexity of COPD is the development and validation of several multidimensional assessment indices, such as the BODE index (body mass index, FEV1, dyspnea, and exercise capacity), the ADO index (age, dyspnea, FEV1), and the DOSE index (dyspnea, FEV1, smoking status, and exacerbation frequency). All of them, however, are based on clinical and functional variables only, whereas it is well established that COPD is also a complex disease at the molecular and genetic levels; it is well known that only a percentage of smokers develop COPD, suggesting a genetically determined susceptibility for the disease. However, information at the genotype, molecular, cellular, and phenotype levels is important to understand and manage COPD [3].