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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.