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Table 1 BCC susceptibility functional candidate genes identified via SMR analysis

From: Genetic and functional interaction network analysis reveals global enrichment of regulatory T cell genes influencing basal cell carcinoma susceptibility

probeID

Chr

Gene

topSNP

topSNP_bp

A1

A2

Freq

bGWAS

PGWAS

beQTL

PeQTL

bSMR

PSMR

PHEIDI

ENSG00000256049

1

PADI6

rs6678121

17719986

G

T

0.344

− 0.097

9.60E−17

0.464

0.00E+00

− 0.208

1.80E−16

9.76E−22

ENSG00000179051

1

RCC2

rs12035179

17793114

C

T

0.393

0.080

3.60E−13

0.207

1.19E−148

0.389

2.54E−12

8.16E−16

ENSG00000003400

2

CASP10

rs13005094

202092561

T

C

0.474

0.059

6.50E−08

− 0.118

7.77E−50

− 0.500

3.82E−07

1.31E−11

ENSG00000064012

2

CASP8

rs7560328

202164837

A

C

0.362

0.130

3.00E−31

− 0.207

7.38E−152

− 0.627

2.12E−26

1.90E−09

ENSG00000155749

2

ALS2CR12

rs2110690

202185132

G

A

0.502

− 0.121

1.40E−28

− 0.157

7.92E−88

0.771

3.57E−22

2.89E−08

ENSG00000213090

2

AC007256.5

rs2540430

202368514

T

A

0.302

0.105

2.20E−19

− 0.072

3.21E−17

− 1.456

7.41E−10

4.43E−05

ENSG00000082146

2

STRADB

rs7575721

202256778

C

T

0.321

0.094

2.60E−16

− 0.084

3.73E−26

− 1.120

9.39E−11

1.77E−08

ENSG00000163599

2

CTLA4

rs13030124

204694263

A

G

0.430

0.085

1.00E−14

0.147

2.30E−70

0.576

1.35E−12

1.11E−07

ENSG00000049656

5

CLPTM1L

rs13170453

1317481

G

A

0.228

− 0.146

3.50E−27

0.090

5.61E−15

− 1.617

2.45E−10

1.37E−05

ENSG00000137265

6

IRF4

rs12526822

428486

A

G

0.321

− 0.098

2.30E−16

− 0.070

1.81E−14

1.396

2.13E−08

3.22E−08

ENSG00000196126

6

HLA-DRB1

rs9271520

32589771

G

A

0.350

− 0.092

2.20E−15

− 0.483

0.00E+00

0.190

3.97E−15

1.98E−14

ENSG00000237541

6

HLA-DQA2

rs9271520

32589771

G

A

0.350

− 0.092

2.20E−15

0.613

0.00E+00

− 0.150

3.09E−15

1.22E−09

ENSG00000204267

6

TAP2

rs4148876

32796793

A

G

0.071

− 0.114

2.90E−07

− 0.524

6.40E−274

0.218

3.82E−07

3.88E−04

ENSG00000112182

6

BACH2*

rs72928038

90976768

A

G

0.178

− 0.124

3.30E−17

− 0.290

9.04E−97

0.426

5.29E−15

3.10E−01

ENSG00000071242

6

RPS6KA2

rs2757050

167377165

T

G

0.469

0.056

2.50E−07

0.316

0.00E+00

0.177

3.12E−07

1.14E−07

ENSG00000026297

6

RNASET2

rs393727

167398632

T

A

0.469

0.056

2.20E−07

0.858

0.00E+00

0.065

2.22E−07

9.81E−06

ENSG00000197146

6

AL133458.1

rs408087

167398952

C

T

0.469

0.056

2.10E−07

0.715

0.00E+00

0.079

2.15E−07

6.13E−07

ENSG00000227598

6

RP1-167A14.2

rs415987

167395375

G

A

0.469

0.056

2.70E−07

0.304

0.00E+00

0.184

3.38E−07

3.31E−07

ENSG00000112486

6

CCR6

rs3093025

167532731

A

G

0.438

− 0.065

3.90E−09

0.208

4.98E−148

− 0.311

9.30E−09

3.16E−04

ENSG00000245025

8

RP11-875O11.1

rs2241261

22876739

C

T

0.476

− 0.056

4.00E−07

0.143

4.56E−73

− 0.390

1.05E−06

7.68E−05

ENSG00000173068

9

BNC2

rs12350739

16885017

G

A

0.385

− 0.078

9.60E−12

− 0.255

1.01E−184

0.304

3.33E−11

1.72E−03

ENSG00000147883

9

CDKN2B

rs2069422

22008026

G

T

0.100

0.111

1.60E−10

− 0.659

0.00E+00

− 0.169

2.34E−10

2.71E−05

ENSG00000136824

9

SMC2*

rs2122576

106870187

C

A

0.395

0.064

8.30E−09

0.212

1.04E−138

0.299

1.97E−08

3.69E−02

ENSG00000236935

11

AP003774.1*

rs479777

64107477

C

T

0.344

0.068

2.50E−09

0.617

0.00E+00

0.110

2.85E−09

1.55E−01

ENSG00000111424

12

VDR*

rs7975232

48238837

C

A

0.480

− 0.063

9.00E−09

0.124

6.51E−56

− 0.503

6.65E−08

2.52E−01

ENSG00000261253

16

AC137932.6

rs1078578

89386934

G

A

0.353

0.075

2.90E−11

− 0.119

9.58E−47

− 0.630

1.59E−09

5.89E−05

ENSG00000261118

16

RP11-104N10.1*

rs4785687

89588896

A

G

0.384

0.097

2.20E−18

− 0.060

1.11E−13

− 1.605

1.50E−08

4.58E−02

ENSG00000197912

16

SPG7

rs4785686

89587871

C

A

0.417

− 0.083

5.60E−14

0.189

4.96E−128

− 0.441

7.25E−13

1.21E−06

ENSG00000167523

16

C16orf55

rs164749

89708224

G

T

0.432

− 0.061

2.50E−08

0.114

2.28E−47

− 0.538

1.96E−07

1.82E−06

ENSG00000185324

16

CDK10

rs77651727

89708267

T

C

0.076

0.096

1.50E−06

− 1.419

0.00E+00

− 0.067

1.68E−06

2.09E−04

ENSG00000158792

16

SPATA2L*

rs396742

89768056

G

C

0.422

− 0.065

1.00E−08

− 0.369

0.00E+00

0.175

1.39E−08

1.30E−02

ENSG00000158805

16

ZNF276

rs3743859

89846050

T

C

0.412

0.052

2.30E−06

0.244

6.29E−198

0.213

3.07E−06

1.34E−23

ENSG00000204991

16

SPIRE2

rs2376879

89884822

G

C

0.292

− 0.075

5.40E−10

0.360

0.00E+00

− 0.209

7.55E−10

1.43E−42

ENSG00000141013

16

GAS8

rs45583731

90106364

A

C

0.428

0.068

4.40E−10

− 0.192

6.97E−91

− 0.355

2.50E−09

1.96E−10

ENSG00000141510

17

TP53*

rs35850753

7578671

T

C

0.018

0.282

7.00E−15

− 0.365

4.04E−21

− 0.772

1.93E−09

2.60E−01

ENSG00000091542

17

ALKBH5*

rs2925138

18092509

A

G

0.426

0.060

3.80E−08

0.157

1.63E−68

0.383

1.55E−07

3.76E−02

ENSG00000127666

19

TICAM1*

rs10405449

4821949

T

C

0.372

− 0.062

4.40E−08

0.217

5.05E−139

− 0.286

8.79E−08

5.72E−02

ENSG00000125780

20

TGM3

rs214787

2283667

C

T

0.181

0.214

3.30E−58

− 0.357

0.00E+00

− 0.599

7.31E−50

1.55E−08

ENSG00000101421

20

CHMP4B*

rs2626562

32409142

G

A

0.530

0.053

1.50E−06

0.370

0.00E+00

0.142

1.74E−06

7.17E−01

ENSG00000125977

20

EIF2S2

rs6142101

32697845

G

A

0.410

0.052

2.00E−06

− 0.243

7.51E−211

− 0.215

2.66E−06

2.07E−17

ENSG00000101460

20

MAP1LC3A

rs6059919

33151545

G

T

0.177

0.132

3.90E−22

− 0.642

0.00E+00

− 0.206

1.51E−21

7.05E−04

ENSG00000078804

20

TP53INP2*

rs1884432

33342439

T

C

0.182

0.127

5.70E−21

− 0.203

1.31E−72

− 0.626

8.03E−17

8.15E−02

ENSG00000198646

20

NCOA6*

rs6058112

33322006

G

C

0.179

0.131

4.70E−22

0.208

1.55E−77

0.632

1.01E−17

7.10E−02

ENSG00000131067

20

GGT7

rs4911164

33479488

G

C

0.377

− 0.053

2.00E−06

0.201

1.44E−139

− 0.266

3.07E−06

4.36E−14

ENSG00000100991

20

TRPC4AP

rs6058166

33656710

C

G

0.394

0.054

9.00E−07

0.589

0.00E+00

0.093

9.40E−07

4.32E−11

ENSG00000100029

22

PES1*

rs737953

30987861

G

C

0.399

− 0.053

1.60E−06

0.174

1.57E−108

− 0.307

2.67E−06

2.08E−01

  1. Genes formatted in bold: decreased gene expression linked to increased risk of BCC. Genes not in bold: increased gene expression linked to increased risk of BCC. Genes denoted by asterisk (*): genes that passed the HEIDI test. Columns: Probe ID; Probe chromosome; Gene, gene name; Probe_bp, probe position; topSNP, SNP ID; topSNP_bp, top eQTL position; A1, effect allele; A2, alternative allele; Freq, frequency; bGWAS, GWAS effect; PGWAS, GWAS P value; beQTL, eQTL effect; PeQTL, eQTL P value; bSMR, SMR effect; PSMR, SMR P value; PHEIDI, HEIDI P value