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Authors:  (Chad K. Oh, Nestor A. Molfino, Respiratory Clinical Development, MedImmune, LLC, Gaithersburg, Maryland, USA)
Abstract:
Chronic obstructive pulmonary disease (COPD) includes emphysema, chronic bronchitis, and other small airway diseases. COPD is the fourth-leading cause of morbidity and mortality in the United States and is expected to rank third as the cause of death worldwide by 2020. COPD is a complex disorder that may be influenced by race, ethnicity, gender, and genetic factors. COPD clusters within families suggest that heritable factors play a role in the pathogenesis of this disease. However, to date, the only proven genetic determinant that is associated with COPD is α1-antitrypsin deficiency. Studies have shown the independent clustering of the airway disease and emphysema component of COPD within families. Furthermore, genome-wide association studies in individuals with COPD identified genes linked with the protease-antiprotease pathway, oxidative stress, and the integrity of the extracellular matrix that are involved in the pathogenesis of emphysema. More refined characterization of emphysema and improved phenotypes may lead to identification of additional genes that could be novel therapeutic targets. Key genetic studies will be further discussed in this chapter. 


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Genetics of COPD (pp. 171-182)