Genetic polymorphisms and susceptibility to lung disease

J Negat Results Biomed. 2006 Apr 11:5:5. doi: 10.1186/1477-5751-5-5.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • California / epidemiology
  • Cohort Studies
  • Dual Oxidases
  • Flavoproteins / genetics
  • Genetic Predisposition to Disease
  • Humans
  • Lung Diseases / genetics*
  • Membrane Glycoproteins / genetics
  • Mycobacterium Infections, Nontuberculous / epidemiology
  • Mycobacterium Infections, Nontuberculous / genetics
  • NADPH Oxidase 2
  • NADPH Oxidases / genetics
  • Phosphoproteins / genetics
  • Pneumonia / epidemiology
  • Pneumonia / genetics
  • Polymorphism, Single Nucleotide*
  • Sarcoidosis, Pulmonary / epidemiology
  • Sarcoidosis, Pulmonary / genetics
  • Toll-Like Receptor 2 / genetics
  • Toll-Like Receptor 9 / genetics
  • Tuberculosis, Pulmonary / epidemiology
  • Tuberculosis, Pulmonary / genetics
  • White People / genetics
  • alpha 1-Antitrypsin / genetics

Substances

  • Flavoproteins
  • Membrane Glycoproteins
  • Phosphoproteins
  • TLR2 protein, human
  • TLR9 protein, human
  • Toll-Like Receptor 2
  • Toll-Like Receptor 9
  • alpha 1-Antitrypsin
  • neutrophil cytosol factor 40K
  • neutrophil cytosol factor 67K
  • Dual Oxidases
  • CYBB protein, human
  • NADPH Oxidase 2
  • NADPH Oxidases
  • CYBA protein, human
  • DUOX1 protein, human
  • DUOX2 protein, human
  • neutrophil cytosolic factor 1