Title |
Association of IREB2 and CHRNA3polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency
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Published in |
Respiratory Research, February 2012
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DOI | 10.1186/1465-9921-13-16 |
Pubmed ID | |
Authors |
Woo Jin Kim, Alice M Wood, Alan F Barker, Mark L Brantly, Edward J Campbell, Edward Eden, Gerard McElvaney, Stephen I Rennard, Robert A Sandhaus, James M Stocks, James K Stoller, Charlie Strange, Gerard Turino, Edwin K Silverman, Robert A Stockley, Dawn L DeMeo |
Abstract |
The development of COPD in subjects with alpha-1 antitrypsin (AAT) deficiency is likely to be influenced by modifier genes. Genome-wide association studies and integrative genomics approaches in COPD have demonstrated significant associations with SNPs in the chromosome 15q region that includes CHRNA3 (cholinergic nicotine receptor alpha3) and IREB2 (iron regulatory binding protein 2).We investigated whether SNPs in the chromosome 15q region would be modifiers for lung function and COPD in AAT deficiency. |
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