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Table 2 Allelic association of SNPs after imputation in the discovery phase

From: Behçet’s disease risk association fine-mapped on the IL23RIL12RB2 intergenic region in Koreans

Locus

SNP

Risk allele (%)

HWE P

Rsqc

Allelic association

BD cases (n = 738)

Controls (n = 4000)

OR (95% CI)

P

IL23RIL12RB2

rs4655535 (G > T)a

467 (63)

2201 (55)

0.00023

0.40

1.4 (1.2, 1.7)

0.000033

rs1495966 (T > C)a

467 (63)

2204 (55)

0.00042

0.40

1.4 (1.2, 1.7)

0.000038

rs1495965 (C > T)a

466 (63)

2203 (55)

0.00050

0.40

1.4 (1.2, 1.7)

0.000049

rs6665569 (T > C)a

465 (53)

2210 (55)

0.047

0.48

1.4 (1.2, 1.6)

0.000094

rs1966176 (G > A)a

506 (69)

2442 (61)

0.61

0.87

1.4 (1.2, 1.7)

0.00011

rs6677188 (T > A)a,b

588 (80)

2919 (73)

0.034

NA

1.4 (1.2, 1.8)

0.00020

rs924080 (T > C)a

590 (80)

2940 (73)

0.11

0.77

1.4 (1.2, 1.7)

0.00022

IL10

rs1518110 (A > C)

563 (76)

2728 (68)

0.47

0.91

1.5 (1.2, 1.8)

0.000012

rs1518111 (T > C)a

563 (76)

2728 (68)

0.47

0.91

1.5 (1.2, 1.8)

0.000012

rs1800871 (A > G)

563 (76)

2728 (68)

0.47

0.87

1.5 (1.2, 1.8)

0.000012

rs1800872 (T > G)a

563 (76)

2728 (68)

0.47

0.87

1.5 (1.2, 1.8)

0.000012

rs3024490 (A > C)

563 (76)

2728 (68)

0.47

0.85

1.5 (1.2, 1.8)

0.000012

rs1554286 (A > G)a,b

551 (76)

2720 (68)

0.47

NA

1.5 (1.2, 1.8)

0.000030

  1. SNP single-nucleotide polymorphism, BD Behçet’s disease, HWE Hardy-Weinberg equilibrium, Rsq r square, OR odds ratio, CI confidence interval, NA not applicable
  2. aThe ten SNPs were genotyped in the subsequent replication phase
  3. bThe two SNPs had been genotyped in the previous genome-wide association study [11] and the genotypes of the others were imputed in this study
  4. cRsq is an imputation quality metric estimated for each imputed SNP