Table 1. Overview of COPD genes and details of their study of origin
YearGeneChrBandApproachPhenotype#SNPsPopulationPrimary population(s)Replication populationPotential Function of VariantsReference
1964AAT14q32.13Pi system (electrophoresis)Respiratory insufficiencyNA2 patientsNAProtease inhibition Eriksson (1964)
2007IL6R1q21.3GWA studyFEF25–7570,9871220 (fb)FHSNAImmune mechanisms Wilk et al (2007)
2007GSTO210q25.1FEV1, FVCNAArsenic biotransformation
2009HHIP4q31.21GWA studyFEV1/FVC550,0007691 (fb)FHSFamily Heart Study, CHARGE Consortium, SpiroMeta ConsortiumLung development by hedgehog signaing Wilk et al (2009)
2009IREB215q25.1GWA studyFEV1/FVC561,466823 (810)Bergen cohortICGN, NETT/NAS, BEOCOPDPulmonary iron homeostasis Pillai et al (2009)
2009MMP1211q22.3Gene‐association studyFEV1SNPs in linkage with MMP128300Genetics of Asthma in Costa Rica Study, CAMP, Children, Allergy, Milieu, Stockholm, Epidemiological Survey, BEOCOPD, NETT, Lovelace Smokers Cohort, NASElastase activity Hunninghake et al (2009)
2010FAM13A4q22.1GWA studyFEV1/FVC550,0002940 (1380)Bergen cohort, NETT/NAS, ECLIPSECOPDGene, ICGN, BEOCOPD, CHARGE ConsortiumOxidative stress and impaired apoptosis Cho et al (2010)
2010GSTCD4q24GWA studyFEV12,705,25720,28812 GWA studies (european origin)CHARGE ConsortiumDevelopmental and remodeling pathways Repapi et al (2010)
TNS12q35FEV1
AGER6p21.3FEV1/FVCCHARGE Consortium
HTR45q32FEV1CHARGE Consortium
THSD415q23FEV1/FVC
2011BICD112p11.21GWA studyCT scan550,0002380ECLIPSE, NETT/NAS, Bergen cohortTelomere shortening Kong et al (2011)
2011SOX512p12.1GWA study/Gene‐association studyFEV1, FEV1/FVC1387386 (424)NETT/NASBEOCOPDDevelopment lung morphogenesis Hersh et al (2011)
2011MFAP21Meta‐analysis GWAFEV1, FEV1/FVC∼2,500,00048,201SpiroMeta Consortium, CHARGE ConsortiumCARDIA, CROATIA‐Split, LifeLines, LBC1936, MESA‐Lung, RS‐III, TwinsUK‐IIantigen of elastin‐associated microfibrils Soler Artigas et al (2011)
TGFB21Epithelial repair process, extracellular collagen accumulation
HDAC42regulation of gene expression
RARB3premature alveolar septation
MECOM3
SPATA95
ARMC26
NCR36
ZKSCAN36
CDC12310Response to cell stress
C10orf1110
LRP112
CCDC3812
MMP1516
CFDP116
KCNE221Ion transport in airway epithelial cells
2011RAB4B1919q13Meta‐analysis GWACOPD, FEV1∼6,100,0003499 (1922)ECLIPSE, NETT/NAS, Bergen cohort, COPDGeneICGN Cho et al (2012)
EGLN2
MIA
CYP2A6Nicotine dependence