Table 3 Association results of comparison between healthy controls and patients with intestinal Behçet’s disease.

From: Identification of genetic susceptibility loci for intestinal Behçet’s disease

SNP

MA

Locus

Nearby genes

GWAS

Replicated

Combined

P Model

aP value Model

MAF: Intestinal BD

aP value Model

OR (95% CI)

MAF: Intestinal BD

MAF: Healthy control

rs1554286 *

G

Chr. 1: 206944233

IL10

7.6 × 10−1 Codominant

4.0 × 10−3 Codominant

0.237

7.6 × 10−3 Codominant

0.717 (0.562–0.915)

0.252

0.318

rs1800871 *

C

Chr. 1: 206946634

IL10

5.8 × 10−3 Codominant

0.232

9.1 × 10−3 Codominant

0.722 (0.564–0.922)

0.245

0.309

rs1518111 *

C

Chr. 1: 206944645

IL10

5.4 × 10−3 Allelic

0.234

7.6 × 10−3 Allelic

0.717 (0.562–0.916)

0.247

0.313

rs7556581

A

Chr. 1: 116386105

NHLH2

7.1 × 10−5 Recessive

3.7 × 10−1 Recessive

0.379

1.1 × 10−2 Recessive

1.731 (1.131–2.649)

0.402

0.350

rs284148

T

Chr.1: 92277843

TGFBR3

8.8 × 10−5 Dominant

3.5 × 10−1 Dominant

0.420

1.2 × 10−2 Dominant

0.667 (0.486–0.916)

0.381

0.425

rs16830589

C

Chr.3: 159365432

SCHIP1

2.5 × 10−5 Dominant

2.0 × 10−1 Dominant

0.204

4.7 × 10−3 Dominant

1.579 (1.15–2.167)

0.231

0.182

rs16830581

G

Chr.3: 159362915

SCHIP1

1.5 × 10−5 Dominant

3.4 × 10−1 Dominant

0.194

7.6 × 10−3 Dominant

1.544 (1.122–2.126)

0.225

0.178

rs3914501

G

Chr. 3: 174564668

NAALADL2

5.7 × 10−5 Recessive

1.6 × 10−2 Recessive

0.505

3.8 × 10−4Recessive

1.914 (1.338–2.738)

0.537

0.459

rs16848171

C

Chr. 3: 174564668

NAALADL2

4.0 × 10−5 Recessive

9.3 × 10−2 Recessive

0.227

7.0 × 10−3 Recessive

2.462 (1.279–4.739)

0.248

0.219

rs6838327

A

Chr. 4: 44626846

YIPF7

4.6 × 10−3 Recessive

1.2 × 10−1 Recessive

0.482

6.4 × 10−3 Recessive

1.654 (1.152–2.376)

0.519

0.468

rs32019

C

Chr. 5: 66702373

CD180

4.4 × 10−2 Codominant

0.551

4.0 × 10−3 Codominant

1.265 (1.023–1.563)

0.548

0.487

rs10259514

G

Chr. 7: 36829705

ELMO1

4.3 × 10−5 Allelic

1.4 × 10−1 Allelic

0.277

4.8 × 10−3 Allelic

0.706 (0.554–0.899)

0.249

0.320

rs10441723

C

Chr. 9: 34082144

DCAF12

4.2 × 10−5 Codominant

3.5 × 10−1 Codominant

0.295

9.5 × 10−3 Codominant

0.725 (0.568–0.924)

0.256

0.321

rs10758242

A

Chr. 9: 34146776

DCAF12

2.6 × 10−5 Allelic

2.1 × 10−1 Allelic

0.283

2.8 × 10−3 Allelic

0.689 (0.54–0.88)

0.245

0.320

rs12624809

C

Chr.20: 8822431

PLCB1

8.5 × 10−6 Dominant

6.5 × 10−1 Dominant

0.653

3.0 × 10−2 Dominant

1.403 (1.034–1.905)

0.696

0.671

rs6086632

C

Chr.20: 8822931

PLCB1

7.8 × 10−6 Dominant

7.9 × 10−1 Dominant

0.649

3.7 × 10−2 Dominant

1.385 (1.019–1.880)

0.694

0.671

rs6086633

T

Chr.20: 8823064

PLCB1

6.8 × 10−6 Dominant

7.4 × 10−1 Dominant

0.652

3.7 × 10−2 Dominant

1.383 (1.019–1.876)

0.695

0.671

rs6039302

T

Chr.20: 8831137

PLCB1

1.1 × 10−5 Dominant

7.1 × 10−1 Dominant

0658

3.3 × 10−2 Dominant

1.397 (1.028–1.898)

0.701

0.675

rs6086653

G

Chr.20: 8838343

PLCB1

3.5 × 10−5 Dominant

6.2 × 10−1 Dominant

0.668

4.3 × 10−2 Dominant

1.371 (1.010–1.862)

0.707

0.688

  1. The combined analysis were performed 391 healthy controls and 295 intestinal BD samples including 99 samples used in GWAS. Bonferroni-corrected significance level is calculated as 0.05/44 tests (bold). SNP, single nucleotide polymorphism; Chr., chromosome; MA, minor allele; GWAS, genome-wide association study; OR, odds ratio; 95% CI, 95% confidence interval; MAF, minor allele frequency. aP value: P value from logistic regression analysis adjusted for sex and age.
  2. *Discovered loci described previously. Allele frequencies are presented for the discovery sample.
  3. Nearby genes are defined as the closest genes to the SNP within signal boundary or the closest genes within a 200-kb window.