Genetics of chronic obstructive pulmonary disease, beyond a1-antitrypsin deficiency

摘要: It is known that only 10-20% of smokers develop COPD, implying apart from environmental features, additional factors such as genetic variability contribute to smoke susceptibility. This proposal in compatibility with the "Dutch Hypothesis", formulated early 60's. Alpha-1-antitrypsin gene was implicated pathogenesis especially homozygous state z allele. Since then many other genes have stepped forward possible contributors COPD development. In present review we attempt summarize majority these, including matrix metalloproteinases and their inhibitors, elastin, serpine2, tumor necrosis factor - a, transforming growth beta, a variety interleukins receptors antagonists, high affinity IgE receptor , human calcium-activated chloride channel 1, heme oxygenase, vascular endothelial factor, microsomal epoxide hydrolase, glutathione S-transferase, cytochrome P45O, superoxide dismutase, vitamin D binding protein, beta2-adrenergic receptor, Toll like B defensins, mucins, cystic fibrosis transmembrane regulator, surfactant protein Nuclear Factor E2 Related 2.