Studies un the genetic of chronic obstructive pulmonary disease

Abstract

Chronic obstructive pulmonary disease (COPD) is characterized by a slowly progressive airflow limitation that is caused by peripheral airway inflammation and loss of lung elastic recoil resulting from parenchymal destruction. COPD has been recognized as a complex disease. Although cigarette smoking is the main risk factor for it, not all smokers develop COPD, suggesting that other factors contribute to the development of COPD. It is believed that interactions of genetic factors and environmental effects are involved in deciding who develops COPD. Cigarette smoking, air pollution, respiratory infections during childhood, latent adenoviral infections, and occupational exposure to vapors, gas, dust or fumes have been described as environmental risk factors [1-2]. Regarding the genetic risk factors, apart from alpha-1-antitrypsin (AAT) deficiency, the only well identified genetic risk factor for COPD; the genetic component in COPD is not a classical Mendelian pattern of inheritance but a complex pattern in which multiple genes are involved. Each of the genes has only a small contribution to the susceptibility [3]. The current challenge concerning complex human diseases is to elucidate their genetic mechanisms and to identify the susceptibility genes. Several genetic methods are used for detecting genes responsible for the development of COPD; non-parametric linkage analysis, case-control association analysis and comprehensive gene expression profiling. These methods should be integrated with each other to accurately identify the polymorphisms of the candidate genes that are truly associated with COPD.