Table 1:

Selected genetic associations with evidence linking variants to genes and supportive functional data. eQTL = expression quantitative trait locus, pQTL = protein quantitative trait locus

Gene name	Evidence for gene	Implications
AGER	Nonsynonymous / coding variant (pQTL, rs2070600)	sRAGE, encoded by AGER, associated with emphysema and lung function decline(69)
HHIP	Gene expression, chromosomal conformation capture, functional variants and eQTL, (e.g. rs6537296, rs1542725), murine model	Increased susceptibility in haploinsufficient mouse to cigarette smoke, age-related emphysema, and lymphocytic inflammation(47,48,100)
FAM13A	Gene expression, functional variants and eQTL (e.g. rs2013701), murine model	Effects on Wnt/B-catenin pathway, induces reactive oxygen species(61)
SFTPD	Nonsynonymous / coding variant (pQTL, rs721917)	Surfactant protein with immunomodulatory role; biomarker for COPD(25,62,64,65)
TGFB2	Gene expression, functional variant identification in fibroblasts and eQTL (rs1690789)	With other associations, implicating members of the TGFB pathway in COPD(101)
SERPINA1	Nonsynonymous variant, protein levels (pQTL rs28929474), familial segregation	Discovery in 1960’s led to protease-antiprotease hypothesis in COPD, AAT augmentation therapy(16,102)
TERT	Rare variants affect telomere length (e.g., rs372511089), segregation in families	Telomere pathway mutations can predispose to COPD and pulmonary fibrosis(103,104)