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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
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Respiratory Research

ISSN: 1465-993X

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