SERPINA1 and ELA2 polymorphisms are not associated with COPD or lung cancer

Anticancer Res. 2012 Sep;32(9):3923-8.

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).

Materials and 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.

Conclusion: Variations in SERPINA1 and ELA2 were not consistently or strongly associated with the risk of either COPD or NSCLC in either race.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Aged
  • Black or African American / genetics
  • Carcinoma, Non-Small-Cell Lung / enzymology
  • Carcinoma, Non-Small-Cell Lung / ethnology
  • Carcinoma, Non-Small-Cell Lung / genetics*
  • Case-Control Studies
  • Female
  • Humans
  • Leukocyte Elastase / genetics
  • Lung Neoplasms / enzymology
  • Lung Neoplasms / ethnology
  • Lung Neoplasms / genetics*
  • Male
  • Polymorphism, Single Nucleotide
  • Pulmonary Disease, Chronic Obstructive / enzymology
  • Pulmonary Disease, Chronic Obstructive / ethnology
  • Pulmonary Disease, Chronic Obstructive / genetics*
  • Serine Endopeptidases / genetics*
  • White People / genetics
  • alpha 1-Antitrypsin / genetics*

Substances

  • SERPINA1 protein, human
  • alpha 1-Antitrypsin
  • Serine Endopeptidases
  • Leukocyte Elastase
  • pancreatic elastase II