title: Genetic polymorphisms and susceptibility to lung disease.
abstract: Susceptibility to infection by bacterium such as Bacillus anthracis has a genetic basis in mice and may also have a genetic basis in humans. In the limited human cases of inhalation anthrax, studies suggest that not all individuals exposed to anthrax spores were infected, but rather, individuals with underlying lung disease, particularly asthma, sarcoidosis and tuberculosis, might be more susceptible. In this study, we determined if polymorphisms in genes important in innate immunity are associated with increased susceptibility to infectious and non-infectious lung diseases, particularly tuberculosis and sarcoidosis, respectively, and therefore might be a risk factor for inhalation anthrax. Examination of 45 non-synonymous polymorphisms in ten genes: p47phox (NCF1), p67phox (NCF2), p40phox (NCF4), p22phox (CYBA), gp91phox (CYBB), DUOX1, DUOX2, TLR2, TLR9 and alpha 1-antitrypsin (AAT) in a cohort of 95 lung disease individuals and 95 control individuals did not show an association of these polymorphisms with increased susceptibility to lung disease.
authors.affiliation: The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, 92037, USA. plee@scripps.edu
authors.forename: Pauline L
authors.initials: PL
authors.lastname: Lee
authors.forename: Carol
authors.initials: C
authors.lastname: West
authors.forename: Karen
authors.initials: K
authors.lastname: Crain
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
mesh_terms: D002140:California / Q000453:epidemiology; D015331:Cohort Studies; D000074623:Dual Oxidases; D005420:Flavoproteins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008171:Lung Diseases / Q000235:genetics*; D008562:Membrane Glycoproteins / Q000235:genetics; D009165:Mycobacterium Infections, Nontuberculous / Q000453:epidemiology / Q000235:genetics; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics; D010750:Phosphoproteins / Q000235:genetics; D011014:Pneumonia / Q000453:epidemiology / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D017565:Sarcoidosis, Pulmonary / Q000453:epidemiology / Q000235:genetics; D051195:Toll-Like Receptor 2 / Q000235:genetics; D051217:Toll-Like Receptor 9 / Q000235:genetics; D014397:Tuberculosis, Pulmonary / Q000453:epidemiology / Q000235:genetics; D044465:White People / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000235:genetics
chemical_list: D005420:Flavoproteins; D008562:Membrane Glycoproteins; D010750:Phosphoproteins; C495342:TLR2 protein, human; C495371:TLR9 protein, human; D051195:Toll-Like Receptor 2; D051217:Toll-Like Receptor 9; D000515:alpha 1-Antitrypsin; C085072:neutrophil cytosol factor 40K; C079789:neutrophil cytosol factor 67K; D000074623:Dual Oxidases; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases; C086986:CYBA protein, human; C431513:DUOX1 protein, human; C431515:DUOX2 protein, human; C060505:neutrophil cytosolic factor 1