Ontology highlight
ABSTRACT:
SUBMITTER: Demeo DL
PROVIDER: S-EPMC2176135 | biostudies-literature | 2008 Jan
REPOSITORIES: biostudies-literature
Demeo Dawn L DL Campbell Edward J EJ Barker Alan F AF Brantly Mark L ML Eden Edward E McElvaney N Gerard NG Rennard Stephen I SI Sandhaus Robert A RA Stocks James M JM Stoller James K JK Strange Charlie C Turino Gerard G Silverman Edwin K EK
American journal of respiratory cell and molecular biology 20070809 1
Severe alpha(1)-antitrypsin (AAT) deficiency is a proven genetic risk factor for chronic obstructive pulmonary disease (COPD), especially in individuals who smoke. There is marked variability in the development of lung disease in individuals homozygous (PI ZZ) for this autosomal recessive condition, suggesting that modifier genes could be important. We hypothesized that genetic determinants of obstructive lung disease may be modifiers of airflow obstruction in individuals with severe AAT deficie ...[more]