Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
0.010 Biomarker disease BEFREE 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. 22356581 2012