Table 2 Thirty SNPs associated with SSc in a meta-analysis comparing signals in European and Japanese GWASs

From: GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region

       

Meta-analysis

JPN

EUR

CHR

POS

ID

Type

Gene

EA

NEA

BETA

SE

P-value

Q

I

EAF (case control)

BETA

SE

P-value

EAF

BETA

SE

P-value

Primary

1

167420425

rs2045526

intronic

CD247

G

T

−0.076

0.028

2.22E-10

0.012

84.1

0.125

0.128

−0.021

0.057

0.398

0.390

−0.092

0.032

1.31E-11

1

173243581

rs844663

ncRNA_intronic

TNFSF4/LOC100506023

C

T

0.076

0.025

4.96E-12

0.870

0

0.281

0.242

0.079

0.043

2.13E-05

0.276

0.075

0.032

5.05E-08

2

191959489

rs4853458

intronic

STAT4

A

G

0.140

0.026

1.91E-35

0.310

3.11

0.425

0.352

0.153

0.039

5.01E-19

0.231

0.129

0.035

4.86E-18

3

28074673

rs398390

intergenic

LINC01980-CMC1-EOMES

C

T

0.048

0.020

1.66E-08

0.846

0

0.450

0.425

0.045

0.039

0.0076

0.487

0.049

0.023

6.34E-07

3

58131515

rs7355798

intronic

FLNB

T

C

0.061

0.022

3.40E-10

0.377

0

0.076

0.066

0.088

0.073

0.0054

0.243

0.058

0.024

1.24E-08

3

119116150

rs9884090

intronic

ARHGAP31

A

G

−0.074

0.024

6.15E-13

0.469

0

0.281

0.311

−0.062

0.042

6.96.E-04

0.155

−0.078

0.029

1.89E-10

3

159733527

rs589446

ncRNA_intronic

IL12A-AS1

T

G

−0.060

0.023

8.02E-10

0.087

65.8

0.079

0.080

−0.011

0.070

0.724

0.350

−0.066

0.024

1.95E-10

4

965779

rs11724804

intronic

DGKQ

A

G

0.057

0.021

1.86E-10

0.047

74.6

0.438

0.428

0.025

0.043

0.185

0.441

0.067

0.024

5.31E-11

4

103449041

rs230534

intronic

NFKB1

T

C

0.063

0.021

4.02E-12

0.775

0

0.398

0.366

0.067

0.041

1.78.E-04

0.338

0.061

0.025

5.38E-09

5

150455732

rs3792783

intronic

TNIP1

G

A

0.069

0.023

2.15E-12

0.052

73.4

0.252

0.233

0.038

0.043

0.0439

0.158

0.081

0.027

2.42E-12

6

106568034

rs548234

intergenic

PRDM1-ATG5

C

T

0.071

0.025

8.06E-11

0.198

39.7

0.378

0.334

0.088

0.039

2.17E-07

0.314

0.059

0.034

2.86E-05

6

138195151

rs5029937

intronic

TNFAIP3

T

G

0.159

0.050

2.15E-13

0.401

0

0.102

0.070

0.175

0.063

1.67E-10

0.024

0.137

0.086

1.17E-04

6

152042260

rs10484921

intronic

ESR1

A

C

0.060

0.024

8.30E-09

0.083

66.6

0.150

0.124

0.095

0.053

3.58E-05

0.243

0.051

0.028

1.20E-05

7

128573967

rs4728142

intergenic

KCP-IRF5

A

G

0.092

0.027

1.61E-15

0.006

86.6

0.142

0.105

0.148

0.054

2.83E-10

0.449

0.074

0.031

2.24E-08

8

11343973

rs2736340

intergenic

FAM167A-BLK

C

T

−0.095

0.020

1.06E-26

0.832

0

0.285

0.327

−0.099

0.046

6.23E-07

0.244

0.094

0.023

3.33E-21

8

61396829

rs2013112

intergenic

LINC01301-RAB2A

T

C

−0.049

0.018

1.05E-09

0.611

0

0.385

0.411

−0.056

0.039

9.78.E-04

0.379

−0.046

0.021

2.66E-07

11

118642085

rs10892286

intronic

DDX6

C

A

−0.066

0.024

1.31E-10

0.053

73.3

0.115

0.123

−0.020

0.060

0.447

0.201

−0.075

0.026

2.12E-11

14

105407208

rs11851053

exonic

AHNAK2*

C

T

−0.053

0.032

1.70E-11

0.000

94.2

0.322

0.380

−0.116

0.042

2.81E-11

0.466

−0.037

0.056

2.27E-05

15

75077367

rs1378942

intronic

CSK

A

C

−0.066

0.020

9.15E-15

0.159

49.6

0.186

0.197

−0.039

0.048

0.0626

0.387

−0.071

0.022

1.84E-14

16

85971922

rs11117420

intergenic

IRF8-LINC01082

C

G

−0.094

0.025

1.42E-17

0.970

0

0.096

0.119

−0.095

0.065

6.97.E-04

0.195

−0.094

0.028

3.82E-15

17

38063381

rs883770

intronic

GSDMB

T

C

0.048

0.018

1.17E-09

0.412

0

0.278

0.260

0.035

0.042

0.0564

0.498

0.051

0.021

4.79E-09

17

73224639

rs1005714

intronic

NUP85

G

C

−0.065

0.026

9.59E-09

0.399

0

0.151

0.158

−0.042

0.069

0.166

0.200

−0.069

0.029

1.87E-08

19

18193191

rs2305743

intronic

IL12RB1

A

G

−0.062

0.025

2.37E-08

0.005

87.5

0.213

0.229

−0.012

0.048

0.579

0.199

−0.081

0.031

4.64E-10

20

44688665

rs9074

UTR3

SLC12A5**

A

G

0.050

0.021

2.21E-08

0.826

0

0.344

0.321

0.054

0.040

0.0018

0.260

0.049

0.025

3.35E-06

Secondary

1

173318664

rs10912594

ncRNA_intronic

TNFSF4/LOC100506023

C

G

−0.062

0.021

6.41E-12

0.980

0

0.309

0.329

−0.062

0.050

0.002085

0.3439

−0.062

0.023

8.13E-10

2

191940451

rs7601754

intronic

STAT4

A

G

−0.072

0.027

1.14E-09

0.155

50.6

0.136

0.180

−0.102

0.058

2.03E-05

0.1809

−0.062

0.031

4.75E-06

3

58375286

rs4076852

intronic

PXK

A

G

0.051

0.021

1.25E-08

0.036

77.3

0.262

0.255

0.014

0.049

0.463

0.2604

0.061

0.023

1.71E-09

6

106734040

rs633724

intronic

ATG5

T

C

0.044

0.018

2.48E-08

0.257

22.1

0.504

0.492

0.028

0.040

0.0858

0.3549

0.049

0.021

5.87E-08

7

128722514

rs17340646

intergenic

TPI1P2-LOC407835

G

T

0.080

0.033

1.94E-08

0.830

0

0.0181

0.0175

0.097

0.204

0.241

0.2078

0.079

0.033

3.84E-08

Tertiary

2

191534372

rs16832798

intronic

NAB1

C

T

0.050

0.023

5.15E-07

0.2394

27.8

0.499

0.490

0.034

0.040

0.0377

0.1481

0.059

0.029

2.37E-06

  1. Inverse-variance fixed effect model was utilized for a meta-analysis of Japanese (1428 cases and 112,599 controls) and European (9095 cases and 17,584 controls) GWAS datasets.
  2. JPN Japanese, EUR European, CHR chromosome, POS genomic position in GRCh37 coordinate, EA effect allele, NEA non-effect allele, EAF effect allele frequency, BETA beta coefficient of logistic regression, SE standard error; * synonymous SNV. AHNAK2:NM_001350929:exon7:c.A14280A:p.V4760V,AHNAK2:NM_138420:exon7:c.A14580A:p.V4860V; ** NM_001134771:c.*2421 A > G,NM_020708:c.*2421 A > G;; gene symbols are indicated in italics;the novel disease-associated SNPs are hilighted with bold.