Article
Endothelial nitric oxide synthase as a potential susceptibility gene in the pathogenesis of emphysema in alpha1-antitrypsin deficiency.
American journal of respiratory cell and molecular biology - 1 Mar 1999
Novoradovsky A, Brantly M L, Waclawiw M A, Chaudhary P P, Ihara H, Qi L, Eissa N T, Barnes P M, Gabriele K M, Ehrmantraut M E, Rogliani P, Moss J
Abstract excerpt
A role for endothelial nitric oxide synthase (NOS3) in the susceptibility of individuals with alpha1-antitrypsin (alpha1AT) deficiency to destructive lung disease was evaluated. Six polymorphic sites were identified within the NOS3 gene (i.e., -924A/G, -788C/T, -691C/T, 774C/T, 894G/T, and 1998C/G). The genotype distribution was determined in 339 patients and 94 control individuals. Frequency of the 774T allele...
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