Candidate genes for COPD: current evidence and research

Figures & data

Table 1 Current candidate genes for COPD and their potential functional mechanisms in the COPD pathogenesis

Genes	Chromosomal loci	Functional studies
CHRNA3/5	15q25	Responsive to nicotine
		Upregulated during tobacco exposure
IREB2	15q25	Higher expression in COPD lung tissue
		Knockout causes cellular dysfunction
HHIP	4q31	Reduced expression in COPD lung tissue
		Regulate pathway related to the extracellular matrix
		Related to pathway of lymphocyte activation
FAM13A	4q22	Activate Wnt signaling
		Akt regulates cytoplasmic sequestration of FAM13A
AGER	6p21	Impair alveolar morphogenesis
		Increase alveolar cell apoptosis
		Alveolar destabilization

Abbreviations: CHRNA3/5, cholinergic nicotine receptor alpha 3/5; IREB2, iron regulatory binding protein 2; HHIP, hedgehog-interacting protein; FAM13A, family with sequence similarity 13, member A; AGER, advanced glycosylation end product–specific receptor.