title: SERPINA1 and ELA2 polymorphisms are not associated with COPD or lung cancer.
abstract: BACKGROUND
  Through their roles in tissue remodeling, variants in the genes that encode alpha1-antitrypsin (AAT) and neutrophil elastase (NE) were hypothesized to be associated with the risk of both chronic obstructive pulmonary disease (COPD) and non-small cell lung cancer (NSCLC).
  
  
  METHODS
  Cases with prevalent COPD (n=145), incident NSCLC (n=203) or prevalent COPD plus NSCLC (n=118) were compared to disease-free controls (n=317), to assess two functional polymorphisms in serpin peptidase inhibitor, clade A, member 1 (SERPINA1), which encodes AAT, and eleven tagging polymorphisms in and around elastase 2 (ELA2), which encodes NE. All analyses were stratified by race.
  
  
  RESULTS
  Among African-Americans, the less efficient SERPINA1 variant appeared to be associated with increased risk of prevalent COPD but only in the presence of NSCLC (odds ratio=7.39; 95% confidence interval=1.03-53.21) and not after correcting for multiple comparisons.
  
  
  CONCLUSIONS
  Variations in SERPINA1 and ELA2 were not consistently or strongly associated with the risk of either COPD or NSCLC in either race.
authors.affiliation: Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA. lenewold@yahoo.com
authors.forename: Lindsey
authors.initials: L
authors.lastname: Enewold
authors.forename: Leah E
authors.initials: LE
authors.lastname: Mechanic
authors.forename: Elise D
authors.initials: ED
authors.lastname: Bowman
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Platz
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Alberg
mesh_terms: D001741:Black or African American / Q000235:genetics; D000368:Aged; D002289:Carcinoma, Non-Small-Cell Lung / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D019272:Leukocyte Elastase / Q000235:genetics; D008175:Lung Neoplasms / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D029424:Pulmonary Disease, Chronic Obstructive / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D012697:Serine Endopeptidases / Q000235:genetics*; D044465:White People / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: C043392:SERPINA1 protein, human; D000515:alpha 1-Antitrypsin; D012697:Serine Endopeptidases; D019272:Leukocyte Elastase; C117309:pancreatic elastase II