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Table 2 Genetic association between candidate single-nucleotide polymorphisms identified using DNA pooling in a cohort of Behçet's disease patients and controls

From: Identification of novel genetic susceptibility loci for Behçet's disease using a genome-wide association study

SNP (location)

Gene

Associated allele

Associated allele frequency

OR (95% CI)

P value

Permutation P value

HWE P value

   

Cases

n (%)

Controls

n (%)

    

rs11206377

(1p34)

LOC100129342

G

189 (66.1)

149 (51.4)

1.84

(1.32–2.58)

3.0 × 10-4

0.0036

0.89

rs12112050

(7p15)

CREB5

T

202 (67.8)

187 (63.2)

1.23

(0.87–1.72)

0.24

0.93

0.75

rs2061634

(9q22)

KIAA1529

G

128 (42.7)

79 (26.7)

2.04

(1.45–2.88)

4.2 × 10-5

0.0002

0.35

rs2875984

(8q12)

CHD7

T

61 (20.3)

54 (18.6)

1.12

(0.74–1.68)

0.60

1

0.87

rs317711

(7p15-p14)

CPVL

C

76 (25.5)

39 (13.2)

2.26

(1.47–3.45)

1.0 × 10-4

0.0011

0.20

rs4936742

(11q24)

UBASH3B

T

161 (56.7)

125 (43.4)

1.71

(1.23–2.38)

1.5 × 10-3

0.0195

0.84

rs4949332

(1p35)

PUM1

C

162 (60.9)

143 (53.0)

2.38

(0.98–1.95)

0.064

0.50

0.83

rs546550

(1p22-p21)

ABCA4

A

246 (84.8)

230 (78.8)

1.51

(0.98–2.31)

0.058

0.47

0.13

rs6798232

(3q23)

PLS1

G

139 (46.3)

125 (42.8)

1.15

(0.83–1.60)

0.39

0.99

0.68

rs9513584

(13q32)

UBAC2

G

128 (44.4)

95 (33.2)

1.61

(1.15–2.26)

5.8 × 10-3

0.064

0.94

  1. Genotyping was performed using the TaqMan SNP Genotyping Assays in the 10 candidate single-nucleotide polymorphisms (SNPs) identified. ABCA4, ATP-binding cassette, sub-family A (ABC1), member 4; CHD7, chromodomain helicase DNA binding protein 7; CI, confidence interval; CREB5, cAMP responsive element binding protein 5; HWE, Hardy-Weinberg equilibrium; LL, lower limit; OR, odds ratio; PLS1, plastin 1; PUM1, pumilio homolog 1; UL, upper limit.