Table 2 COPD associated SNPs identified using GWAS or candidate gene methodology
Gene | Locus | SNP | Association/Comparison | Reference |
|---|---|---|---|---|
TGFB2 | 1q41 | rs4846480 | Severe COPD vs healthy smoker | Cho et al. 2014 [34] |
TNS1 | 2q35 | rs2571445 | COPD susceptibility | Soler-Artigas et al. 2011 [36] |
PID1 | 2q36.3 | rs10498230 | FEV1/FVC associated measure - COPD susceptibility | Castaldi et al. 2011 [96] |
PID1 | 2q36.3 | rs1435867 | FEV1/FVC associated measure - COPD susceptibility | Castaldi et al. 2011 [96] |
PID1 | 2q36.3 | rs16825116 | Lung function gene associated with COPD susceptibilty | Kim et al. 2014 [33] |
FAM13A | 4q22.1 | rs2869967 | Chronic Bronchitis COPD vs smoker control | Lee et al. 2014 [29] |
FAM13A | 4q22.1 | rs2045517 | Chronic Bronchitis COPD vs smoker control | Lee et al. 2014 [29] |
FAM13A | 4q22.1 | rs7671167 | Chronic Bronchitis COPD vs smoker control | Lee et al. 2014 [29] |
FAM13A | 4q22.1 | rs7671167 | Airway obstruction in COPD | Cho et al. 2012 [32] |
FAM13A | 4q22.1 | rs7671167 | Emphysema in COPD cohort | Pillai et al. 2010 [30] |
FAM13A | 4q22.1 | rs7671167 | COPD susceptibility | Cho et al. 2010 [31] |
FAM13A | 4q22.1 | rs1903003 | COPD susceptibility | Cho et al. 2010 [31] |
FAM13A | 4q22.1 | rs2904259 | Chronic Bronchitis COPD vs smoker control | Lee et al. 2014 [29] |
FAM13A | 4q22.1 | rs2609264 | Lung function gene associated with COPD susceptibilty | Kim et al. 2014 [33] |
FAM13A | 4q22.1 | rs2609261 | Lung function gene associated with COPD susceptibilty | Kim et al. 2014 [33] |
FAM13A | 4q22.1 | rs2609260 | Lung function gene associated with COPD susceptibilty | Kim et al. 2014 [33] |
FAM13A | 4q22.1 | rs4416442 | Moderate to severe and severe COPD vs healthy smoker | Cho et al. 2014 [34] |
FAM13A | 4q22.1 | rs1964516 | Airway obstruction in COPD | Cho et al. 2012 [32] |
FLJ20184 | 4q24 | rs17035960 | FEV1 associated measure - COPD susceptibility | Castaldi et al. 2011 [96] |
FLJ20184 | 4q24 | rs17036052 | FEV1 associated measure - COPD susceptibility | Castaldi et al. 2011 [96] |
INTS12 | 4q24 | rs11727189 | FEV1 associated measure - COPD susceptibility | Castaldi et al. 2011 [96] |
INTS12 | 4q24 | rs17036090 | FEV1 associated measure - COPD susceptibility | Castaldi et al. 2011 [96] |
GSTCD | 4q24 | rs10516526 | COPD susceptibility | Soler-Artigas et al. 2011 [36] |
GSTCD | 4q24 | rs10516526 | FEV1 associated measure - COPD susceptibility | Castaldi et al. 2011 [96] |
GSTCD | 4q24 | rs11097901 | FEV1 associated measure - COPD susceptibility | Castaldi et al. 2011 [96] |
GSTCD | 4q24 | rs11728716 | FEV1 associated measure - COPD susceptibility | Castaldi et al. 2011 [96] |
NPNT | 4q24 | rs17036341 | FEV1 associated measure - COPD susceptibility | Castaldi et al. 2011 [96] |
NPNT | 4q24 | rs17331332 | FEV1 associated measure - COPD susceptibility | Castaldi et al. 2011 [96] |
HHIP | 4q31.21 | rs13141641 | Moderate to severe and severe COPD vs healthy smoker | Cho et al. 2014 [34] |
HHIP | 4q31.21 | rs12504628 | COPD susceptibility | Soler-Artigas et al. 2011 [36] |
HHIP | 4q31.21 | rs13118928 | FEV1/FVC, Emphysema and Exacerbations in COPD cohort | Pillai et al. 2010 [30] |
HHIP | 4q31.21 | rs13118928 | COPD susceptibility | Cho et al. 2010 [31] |
HHIP | 4q31.21 | rs13118928 | COPD susceptibility | van Durme et al. 2010 [103] |
HHIP | 4q31.21 | rs1828591 | COPD susceptibility | van Durme et al. 2010 [103] |
HTR4 | 5q32 | rs7733088 | Airway obstruction | Wilk et al. 2012 [35] |
HTR4 | 5q32 | rs3995090 | COPD susceptibility | Soler-Artigas et al. 2011 [36] |
ADAM19 | 5q33 | rs2277027 | FEV1/FVC associated measure - COPD susceptibility | Castaldi et al. 2011 [96] |
ADAM19 | 5q33 | rs1422795 | FEV1/FVC associated measure - COPD susceptibility | Castaldi et al. 2011 [96] |
PPT2 | 6p21 | rs10947233 | FEV1/FVC associated measure - COPD susceptibility | Castaldi et al. 2011 [96] |
AGER | 6p21 | rs2070600 | FEV1/FVC associated measure - COPD susceptibility | Castaldi et al. 2011 [96] |
ACN9 | 7q21.3 | rs10231916 | Lung function gene associated with COPD susceptibilty | Kim et al. 2014 [33] |
ACN9 | 7q21.3 | rs10229181 | Lung function gene associated with COPD susceptibilty | Kim et al. 2014 [33] |
RHOBTB1 - TMEM26 | 10q21.2 | rs10761570 | Decline in FEV1 in mild/moderate COPD | Hansel et al. 2013 [104] |
RHOBTB1 - TMEM26 | 10q21.2 | rs7911302 | Decline in FEV1 in mild/moderate COPD | Hansel et al. 2013 [104] |
EFCAB4A | 11p15 | rs34391416 | Chronic Bronchitis COPD vs smoker control | Lee et al. 2014 [29] |
CHID1 | 11p15 | rs147862429 | Chronic Bronchitis COPD vs smoker control | Lee et al. 2014 [29] |
ANO3 | 11p14.2 | rs7119465 | Lung function gene associated with COPD susceptibilty | Kim et al. 2014 [33] |
MMP12 | 11q22.2 | rs626750 | Severe COPD vs healthy smoker | Cho et al. 2014 [34] |
BICD1 | 12p11.21 | rs10844154 | Emphysematous COPD | Kong et al. 2011 [105] |
BICD1 | 12p11.21 | rs161976 | Emphysematous COPD | Kong et al. 2011 [105] |
LOC100128066 - TTC6 | 14q21.1 | rs177852 | Decline in FEV1 in mild/moderate COPD | Hansel et al. 2013 [104] |
RIN3 | 14q32.12 | rs754388 | Moderate to severe and severe COPD vs healthy smoker | Cho et al. 2014 [34] |
IREB2 | 15q25.1 | rs1062980 | COPD susceptibility | Brehm et al. 2011 [37] |
IREB2 | 15q25.1 | rs13180 | COPD susceptibility | Brehm et al. 2011 [37] |
IREB2 | 15q25.1 | rs8034191 | COPD susceptibility | Brehm et al. 2011 [37] |
IREB2 | 15q25.1 | rs265606 | COPD susceptibility | Brehm et al. 2011 [37] |
PSMA4 | 15q25.1 | rs2036534 | COPD susceptibility | Brehm et al. 2011 [37] |
AGPHD1 - CHRNA3/5 | 15q25.1 | 11 SNPs | Airway obstruction in ever smoker | Wilk et al. 2012 [35] |
CHRNA5 | 15q25.1 | rs17486278 | Airway obstruction in all ever/never smoker | Wilk et al. 2012 [35] |
CHRNA3/5 | 15q25.1 | rs8034191 | FEV1, FEV1/FVC and Emphysema in COPD cohort | Pillai et al. 2010 [30] |
CHRNA3 | 15q25.1 | rs12914385 | COPD susceptibility | Brehm et al. 2011 [37] |
CHRNA3 | 15q25.1 | rs1051730 | COPD susceptibility | Brehm et al. 2011 [37] |
CHRNA3 | 15q25.1 | rs12914385 | Moderate to severe and severe COPD | Cho et al. 2014 [34] |
CHRNA3/CHRNA5/IREB2 | 15q25.1 | rs1062980 | COPD susceptibility | Cho et al. 2010 [31] |
CHRNA3/CHRNA5/IREB2 | 15q25.1 | rs13180 | COPD susceptibility | Cho et al. 2010 [31] |
CHRNA3/5 | 15q25.1 | rs8034191 | COPD susceptibility | Pillai et al. 2009 [38] |
CHRNA3/5 | 15q25.1 | rs1051730 | COPD susceptibility | Pillai et al. 2009 [38] |
FGF7 | 15q21.2 | rs12591300 | COPD susceptibility | Brehm et al. 2011 [37] |
FGF7 | 15q21.2 | rs4480740 | COPD susceptibility | Brehm et al. 2011 [37] |
DTWD1 | 15q21.2 | rs17404727 | COPD susceptibility | Brehm et al. 2011 [37] |
MCTP2 | 15q26.2 | rs8031759 | Lung function gene associated with COPD susceptibilty | Kim et al. 2014 [33] |
AKAP1 | 17q22 | rs886282 | Lung function gene associated with COPD susceptibilty | Kim et al. 2014 [33] |
SOX9 | 17q24.3 | rs17178251 | Lung function gene associated with COPD susceptibilty | Kim et al. 2014 [33] |
SOX9 | 17q24.3 | rs17765644 | Lung function gene associated with COPD susceptibilty | Kim et al. 2014 [33] |
SOX9 | 17q24.3 | rs11870732 | Lung function gene associated with COPD susceptibilty | Kim et al. 2014 [33] |
RAB4B - EGLN2 | 19q13 | rs7937 | Airway obstruction in COPD | Cho et al. 2012 [32] |
RAB4B - EGLN2 | 19q13 | rs2604894 | Airway obstruction in COPD | Cho et al. 2012 [32] |
PDE9A | 21q22.3 | rs2269145 | Lung function gene associated with COPD susceptibilty | Kim et al. 2014 [33] |