title: Genetics of chronic obstructive pulmonary disease, beyond a1-antitrypsin deficiency.
abstract: It is known that only 10-20% of smokers develop COPD, implying that apart from environmental features, additional factors such as genetic variability contribute to smoke susceptibility. This proposal is in compatibility with the "Dutch Hypothesis", formulated in the early 60's. Alpha-1-antitrypsin gene was implicated in the pathogenesis of COPD, especially the homozygous state of z allele. Since then many other genes have stepped forward as possible contributors to COPD development. In the present review we attempt to summarize the majority of these, including the genes of matrix metalloproteinases and their inhibitors, elastin, serpine2, tumor necrosis factor - a, transforming growth factor beta, a variety of interleukins and their receptors and antagonists, high affinity IgE receptor , human calcium-activated chloride channel 1, heme oxygenase, vascular endothelial growth factor, microsomal epoxide hydrolase, glutathione S-transferase, cytochrome P45O, superoxide dismutase, vitamin D binding protein, beta2-adrenergic receptor, Toll like receptor, human B defensins, mucins, cystic fibrosis transmembrane regulator, surfactant protein and Nuclear Factor E2 Related Factor 2.
authors.affiliation: Department of Internal Medicine. Division of Pneumology, University Hospital of Rio-Patras, 26500, Patras, Greece. k-spiropoulos@hotmail.com.
authors.forename: Fotis
authors.initials: F
authors.lastname: Sampsonas
authors.forename: Kiriakos
authors.initials: K
authors.lastname: Karkoulias
authors.forename: Alexandros
authors.initials: A
authors.lastname: Kaparianos
authors.forename: Kostas
authors.initials: K
authors.lastname: Spiropoulos
mesh_terms: D000483:Alleles; D006720:Homozygote; D006801:Humans; D007249:Inflammation / Q000235:genetics / Q000473:pathology; D020782:Matrix Metalloproteinases / Q000235:genetics / Q000378:metabolism; D009079:Mucociliary Clearance / Q000235:genetics / Q000502:physiology; D009093:Mucus / Q000737:chemistry / Q000502:physiology; D011110:Polymorphism, Genetic; D029424:Pulmonary Disease, Chronic Obstructive / Q000453:epidemiology / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D018343:Receptors, Adrenergic, beta-2 / Q000235:genetics / Q000378:metabolism; D012307:Risk Factors; D012907:Smoking / Q000009:adverse effects; D019896:alpha 1-Antitrypsin Deficiency / Q000235:genetics* / Q000473:pathology
chemical_list: D018343:Receptors, Adrenergic, beta-2; D020782:Matrix Metalloproteinases