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Table 1 Information about 64 genotyped SNPs in the IL-10, IL18R1, IL1A, IL1B, STAT1, SLC11A1, SP110, IL12B, LTA, TNF, IFNGR1, MBL2, VDR, IL27, CCL2, IL12RB1, IFNGR2, and TLR8

From: Mannose-binding lectin 2 gene polymorphisms and their association with tuberculosis in a Chinese population

Gene: locus and OMIM No.a

No.

SNP_ID

Chromosome No.

Chromosome position b

Intermarker distances c (bp)

Genic location

Base Change

MAF d

Pf

P value for HWE g test

Genotyping rate h(%)

NCBI e

Control

Tuberculosis

IL10: 1q31-q32 OMIN: 124092

1

rs3024496

1

206 768 519

3’UTR

T → C

0.0097

0.051

0.049

0.730

0.5467

99.7

2

rs1800871

1

206 773 289

4770

Intron

T → C

0.2573

0.364

0.341

0.226

0.5098

98.7

3

rs1800896

1

206 773 552

263

Intron

A → G

0.0340

0.092

0.092

0.964

0.8843

100

IL18R1: 2q12 OMIN: 604494

1

rs3771167

2

102 369 728

Intron

T → C

0.0485

0.035

0.035

0.902

0.4203

100

2

rs1974675

2

102 369 915

187

Intron

C → T

0.1456

0.136

0.126

0.435

0.8773

99.8

3

rs6758936

2

102 374 909

4994

Intron

G → A

0.1699

0.142

0.141

0.944

0.6809

99.8

4

rs6750020

2

102 378 254

3345

Intron

G → A

0.4806

0.459

0.442

0.376

0.1350

99.6

5

rs1035130

2

102 384 942

6688

Exon 6 F251F

G → A

0.3495

0.317

0.299

0.301

0.1045

99.5

6

rs3771158

2

102 393 434

8492

Intron

T → C

0.0971

0.097

0.088

0.439

0.7258

99.7

IL1A: 2q14 OMIN: 147760

1

rs17561

2

112 779 646

Exon 4 A114S

G → T

0.0631

0.121

0.098

0.063

0.8821

99.6

2

rs3783526

2

112 784 230

4584

Intron

A → G

0.3689

0.351

0.367

0.374

0.0129

99.3

IL1B: 2q14 OMIN: 147720

1

rs2853550

2

112 829 544

45 314

Intron

C → T

0.0825

0.111

0.112

0.913

0.1487

99.9

2

rs1143633

2

112 832 890

3346

Intron

A → G

0.4126

0.435

0.426

0.658

0.5667

98.9

3

rs1143627

2

112 836 810

3920

UTR-5

T → C

0.4563

0.497

0.489

0.685

0.7878

97.0

STAT1: 2q32.2 OMIN: 600555

1

rs2280235

2

190 979 104

Intron

C → T

0.4660

0.484

0.465

0.335

0.2941

98.7

2

rs16833155

2

190 996 651

17 547

Intron

C → T

0.0291

0.053

0.054

0.982

0.6981

99.9

3

rs13029247

2

191 001 932

5281

Intron

C → T

0.5000

0.476

0.462

0.463

0.0728

98.8

4

rs7576984

2

191 003 857

1925

Intron

C → A

0.1650

0.167

0.160

0.647

0.2140

99.7

5

rs2066802

2

191 009 941

6084

Exon 1 L21L

T → C

0.2427

0.218

0.210

0.620

0.2973

99.2

SLC11A1: 2q35 OMIN: 600266

1

rs2276631

2

218 384 290

Exon 2 F66F

G → A

0.1408

0.144

0.149

0.665

0.3834

99.2

2

rs17221959

2

218 387 907

3617

Exon 7 G249G

C → T

0.1068

0.099

0.112

0.295

0.9842

95.4

3

rs17235409

2

218 395 009

7102

Exon 14 D543N

G → A

0.1408

0.138

0.125

0.311

0.5529

99.1

SP110: 2q37.1 OMIN: 604457

1

rs9783992

2

230 170 873

Intron

T → C

0.0049

0.002

0.002

0.989

0.9645

99.9

2

rs10165685

2

230 174 882

4009

Intron

G → A

0.1262

0.159

0.157

0.845

0.6981

99.8

3

rs957683

2

230 178 660

3778

Intron

T → C

0.3738

0.456

0.445

0.566

0.1516

98.7

4

rs41345344

2

230 200 212

21 552

Intron

C → G

0.2718

0.170

0.185

0.322

0.4374

98.5

5

rs1365776

2

230 207 994

7781

Exon 7 G305R

A → G

0.1068

0.126

0.114

0.351

0.4184

99.6

IL12B: 5q31.1-q33.1 OMIN: 161561

1

rs1368439

5

159 315 006

3’URT

T → G

0.0097

0.004

0.003

0.496

0.9289

99.8

2

rs919766

5

159 320 556

5550

Intron

A → C

0.0437

0.052

0.053

0.901

0.7283

100

3

rs3212217

5

159 328 122

7566

Intron

G → C

0.4417

0.455

0.427

0.145

0.1761

99.6

4

rs2546892

5

159 328 467

345

Intron

G → A

0.1845

0.186

0.212

0.101

0.8839

96.5

LTA: 6p21.3 OMIN: 153440

1

rs2009658

6

31 570 467

Intron

C → G

0.1845

0.144

0.171

0.057

0.3741

99.4

2

rs1800683

6

31 572 294

1827

5’UTR

G → A

0.4175

0.438

0.420

0.342

0.5831

98.7

3

rs2229094

6

31 572 779

485

Exon 1 C13R

T → C

0.2282

0.190

0.229

0.015

0.1732

99.3

4

rs2229092

6

31 572 980

201

Exon 2 H51P

A → C

0.0243

0.021

0.024

0.631

0.0871

99.9

5

rs1041981

6

31 573 007

27

Exon 2 T60N

C → A

0.4175

0.437

0.419

0.349

0.6545

99.0

TNF: 6p21.3 OMIN: 191160

1

rs1800629

6

31 575 254

2247

Intron

G → A

0.0922

0.054

0.069

0.100

0.1735

99.5

2

rs3093662

6

31 576 412

1158

Intron

A → G

0.0340

0.038

0.048

0.183

0.7276

99.3

IFNGR1: 6q23.3 OMIN: 107470

1

rs1887415

6

137 198 101

Exon 7 L467P

T → C

0.0194

0.029

0.031

0.743

0.5056

99.7

 

2

rs2234711

6

137 219 383

21 282

5’UTR

C → T

0.4757

0.453

0.448

0.811

0.2336

99.3

MBL2: 10q11.2 OMIN: 154545

1

rs2099902

10

52 766 089

3’UTR

T → C

0.2670

0.198

0.255

0.001

0.4386

99.3

2

rs930507

10

52 768 506

2417

Exon 4 L126L

C → G

0.2427

0.191

0.237

0.004

0.8992

97.1

3

rs10824793

10

52 769 720

1214

Intron

A → G

0.3398

0.285

0.336

0.004

0.9966

99.9

4

rs7916582

10

52 773 235

3515

Intron

T → C

0.1456

0.111

0.126

0.232

0.6949

99.6

VDR: 12q13.11 OMIN: 601769

1

rs2239184

12

47 850 800

Intron

C → T

0.2913

0.279

0.271

0.637

0.8753

99.8

2

rs2248098

12

47 859 573

8773

Intron

T → C

0.2621

0.292

0.281

0.519

0.2028

99.7

3

rs1540339

12

47 863 543

3970

Intron

A → G

0.2670

0.289

0.316

0.124

0.3715

99.7

4

rs10783219

12

47 901 705

38 162

Intron

A → T

0.4175

0.433

0.465

0.110

0.4119

94.3

5

rs7139166

12

47 906 551

4846

Intron

C → G

0.0243

0.028

0.027

0.852

0.5221

99.9

IL27: 16p11 OMIN: 608273

1

rs181206

16

28 502 082

Exon 4 L119R

T → C

0.1456

0.136

0.129

0.621

0.3844

99.0

CCL2: 17q11.2-q12 OMIN: 158105

1

rs4586

16

34 256 250

Exon 2 C35C

C → T

0.3641

0.412

0.380

0.092

0.9518

99.1

IL12RB1: 19p13.1 OMIN: 601604

1

rs2305740

19

18 069 426

Intron

A → G

0.0922

0.136

0.110

0.040

0.7880

99.9

2

rs401502

19

18 069 603

177

Exon 11 G378R

C → G

0.3350

0.369

0.344

0.186

0.5334

99.8

3

rs375947

19

18 069 641

38

Exon 11 M365T

A → G

0.3350

0.368

0.342

0.164

0.4755

99.5

4

rs17852635

19

18 075 765

6124

Exon 7 P228P

G → A

0.3350

0.368

0.332

0.055

0.6152

99.1

5

rs11575934

19

18 075 808

43

Exon 7 Q214R

A → G

0.3350

0.375

0.339

0.051

0.9668

98.8

IFNGR2: 21q22.11 OMIN: 147569

1

rs1059293

21

33 437 386

3’URT

T → C

0.1553

0.121

0.114

0.578

0.0179

99.5

TLR8: Xp22 OMIN: 300366

1

rs3764880

X

12 906 707

Exon 1 M1V

G → A

0.1778

0.153

0.155

0.917

99.5

2

rs5744068

X

12 916 939

10 232

Intron

C → T

0.2250

0.017

0.019

0.667

99.9

3

rs2159377

X

12 919 394

2455

Exon 2 D136D

T → C

0.2813

0.210

0.205

0.771

99.3

4

rs5744080

X

12 919 685

291

Exon 2 H233Q

T → C

0.2313

0.194

0.184

0.504

99.7

5

rs2407992

X

12 920 993

1308

Exon 2 L669L

C → G

0.2250

0.190

0.177

0.379

99.1

6

rs3747414

X

12 921 293

300

Exon 2 I769I

A → C

0.3221

0.196

0.177

0.225

99.0

7

rs5744088

X

12 922 445

1152

3’URT

G → C

0.0500

0.025

0.024

0.958

98.9

  1. aOMIM, Online Mendelian Inheritance in Man (http://www.ncbi.nlm.nih.gov/Omim)
  2. bSNP position in the NCBI dbSNP database (http://www.ncbi.nlm.nih.gov/SNP)
  3. cIntermarker distances, the distance between two adjacent SNP sites on the same gene sequence. The intermarker distance of first SNP was showed as “——”
  4. dMAF, minor allele frequency
  5. eMAF for Chinese in the NCBI dbSNPs database
  6. fP value for difference in allele distributions between tuberculosis and control group
  7. gHWE Hardy-Weinberg equilibrium in the control group
  8. hGenotyping Rate, rate of actual genotyping samples to total samples
  9. -: Not applicable