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Table 2 COPD associated SNPs identified using GWAS or candidate gene methodology

From: Developmental genetics of the COPD lung

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]
  1. COPD gene associations in the literature [29–38, 96, 103–105]
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COPD Research and Practice

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