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

Authors: Enewold, Lindsey; Mechanic, Leah E; Bowman, Elise D; Platz, Elizabeth A; Alberg, Anthony J

Published In Anticancer Res, (2012 Sep)

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

PubMed ID: 22993338 Exiting the NIEHS site

MeSH Terms: African Americans/genetics; Aged; Carcinoma, Non-Small-Cell Lung/enzymology; Carcinoma, Non-Small-Cell Lung/ethnology; Carcinoma, Non-Small-Cell Lung/genetics*; Case-Control Studies; European Continental Ancestry Group/genetics; 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*; alpha 1-Antitrypsin/genetics*

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