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Table 1 Details of the gene and corresponding single nucleotide polymorphism (SNP) associated to chronic obstructive pulmonary disease (COPD) susceptibility

From: A candidate gene identification strategy utilizing mouse to human big-data mining: “3R-tenet” in COPD genetic research

Gene Gene name Entrez ID Associated SNP Chromosomal Location Ref allele/Alt allele Ref AA/Alt AA Odds ratio 95% CI z-statistic Significance level Association to COPD
ABCA10 ATP-binding cassette, sub-family A, member 10 10,349 rs4968849 17: 67178316 A/G M/T 4.09 1.11 to 15.01 2.125 0.0336 Novel loci, gene associated previously (NLGAP)
ADAM19 ADAM metallopeptidase domain 19 8728 rs1422795 5: 156936364 T/C S/G 6.21 2.26 to 17.00 3.555 0.0004 Loci and gene associated previously
BHLHE41 Basic helix-loop-helix family, member e41 79365 rs11048413 12: 26275555 G/A A/V 5.29 2.71 to 10.35 4.879 <  0.0001 NLGAP
CD200 CD200 molecule 4345 rs1131199 3: 112059768 C/G S/C 2.3773 1.11 to 5.05 2.248 0.0246 NLGAP
CYBB Cytochrome b-245, beta polypeptide 1536 Novel X: 37658269 C/A Q/K 2.9091 1.35 to 6.26 2.726 0.0064 NLGAP
GATM Glycine amidinotransferase 2628 rs1288775 15: 45661678 T/A Q/H 2.4309 1.35 to 4.36 2.974 0.0029 NLGAP
GBP1 Guanylate binding protein 1, interferon-inducible 2633 rs1048425 1: 89522646 G/C T/S 3.2611 1.70 to 6.24 3.566 0.0004 NLGAP
HJURP Holliday junction recognition protein 55355 rs2286430 2: 234761225 C/T E/K 3.36 1.42 to 7.94 2.768 0.0056 Novel
KIT V-Kit, sarcoma viral oncogene homolog 3815 rs3822214 4: 55593464 A/C M/L 5.05 1.07 to 23.74 2.054 0.04 Loci and gene associated previously
LEPR Leptin receptor 3953 rs1137101 1: 66058513 A/G Q/R 10.39 5.00 to 21.58 6.28 <  0.0001 NLGAP
LMO7 LIM domain 7 4008 Insertion 13: 76383319 A to G Insertion 3.6316 1.99 to 6.62 4.209 <  0.0001 Novel insertion, gene associated Previously (NIGAP)
LMO7 LIM domain 7 4008 Insertion 13: 76429504 T insertion 3.5531 1.50 to 8.36 2.903 0.0037 NIGAP
LRP1 Low density lipoprotein receptor-related protein 1 4035 Splice junction 12: 57605134 G/C 10.22 1.28 to 81.58 2.195 0.0282 Novel splice site; gene associated Previously (NSSGAP)
MCRS1 Microspherule protein 1 10445 Splice junction 12: 49957330 C/T 3.365 1.57 to 7.19 3.127 0.0018 Novel
POP4 Processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) 10775 Splice junction 19: 30101540 G/A 2.7669 1.31 to 5.83 2.673 0.0075 NSSGAP
PTCH1 Patched 1 5727 Splice junction 9: 98242373 G/T 11.41 2.58 to 50.37 3.213 0.0013 NSSGAP
SCN7A Sodium channel, voltage-gated, type VII, alpha subunit 6332 rs7565062 2: 167334085 G/T T/N 4.4175 1.97 to 9.90 3.606 0.0003 NLGAP
SCN7A Sodium channel, voltage-gated, type VII, alpha subunit 6332 Insertion 2: 167289263 AG Insertion 3.3561 1.17 to 9.57 2.263 0.0237 NIGAP
SCN7A Sodium channel, voltage-gated, type VII, alpha subunit 6332 rs6738031 2: 167279922 C/A M/I 2.2817 1.09 to 4.76 2.198 0.028 NLGAP
SLFN12L Schlafen family member 12 like 100,506,736 rs2304968 17: 33805150 T/C Y/C 2.2 1.07 to 4.51 2.151 0.0315 NLGAP
TLR8 Toll-like receptor 8 51,311 rs3764880 X: 12924826 A/G M/V 2.97 1.11 to 7.91 2.181 0.0292 Novel
TTC5 Tetratricopeptide repeat domain 5 91875 rs3742945 14: 20770036 T/C Q/R 2.1591 1.14 to 4.07 2.375 0.0176 NLGAP
VEPH1 Ventricular zone expressed PH domain homolog 1 (zebrafish) 79674 rs11918974 3: 157081324 A/G S/P 1.8668 1.04 to 3.32 2.116 0.0343 NLGAP
  1. AA amino acids, rs reference sequence, Ref reference, Alt altered, CI confidence interval
  2. p < 0.05 was considered as significant