Table 1 Association with the 6 SNPs in Japanese CM-SJS/TEN with SOC patients

From: Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens–Johnson syndrome with severe ocular complications

Chromosome

rs number of SNP

Genotypes

Validation analysis of 6 SNPs showing P<10−7 in GWAS of Japanese CM-SJS/TEN with SOC patients

Association analysis of 6 SNPs using 21 additional Japanese patients

Extended association analysis with the validation and the additional samples

    

Genotype frequencies (%)

Allele 1 vs Allele 2

Genotype 11 vs 12+22

Genotype 11+12 vs 22

Genotype Frequencies (%)

Allele 1 vs Allele 2

Genotype 11 vs 12+22

Genotype 11+12 vs 22

Genotype Frequencies (%)

Allele 1 vs Allele 2

Genotype 11 vs 12+22

Genotype 11+12 vs 22

    

Patients (n=117) (%)

Controls (n=691) (%)

P-valueaOR

(95% CI)

P-valuea OR (95% CI)

P-valuea OR (95% CI)

Patients (n=21) (%)

Controls (n=192) (%)

P-valuea OR (95% CI)

P-valuea OR (95% CI)

P-valuea OR (95% CI)

Patients (n=138) (%)

Controls (n=883) (%)

P-valuea OR (95% CI)

P-valuea OR (95% CI)

P-valuea

OR

(95% CI)

15

rs16957893

11

C/C

0/117 (0.0)

0/691 (0.0)

7.76 × 10 − 8

—

6.11 × 10 −8

0/21 (0.0)

0/192 (0.0)

0.341*

—

0.341*

0/138 (0.0)

0/883 (0.0)

3.50 × 10 −8

−

2.79 × 10 −8

  

12

C/G

13/117 (11.1)

12/691 (1.7)

6.72 (3.0–14.9)

—

7.07 (3.1–15.9)

1/21 (4.8)

3/192 (1.6)

3.1 (0.3–30.5)

—

3.15 (0.3–31.7)

14/138 (10.1)

15/883 (1.7)

6.24 (3.0–13.1)

—

6.53 (3.1–13.9)

  

22

G/G

104/117 (88.9)

679/691 (98.3)

 

—

 

20/21 (95.2)

189/192 (98.4)

 

—

 

124/138 (89.9)

868/883 (98.3)

 

—

 
 

rs12324361

11

C/C

0/117 (0.0)

0/691 (0.0)

7.76 × 10 −8

—

6.11 × 10 −8

0/21 (0.0)

0/192 (0.0)

1.00*

—

1.00*

0/138 (0.0)

0/883 (0.0)

2.91 ×10−7

—

2.40 ×10−7

  

12

C/T

13/117 (11.1)

12/691 (1.7)

6.72 (3.0–14.9)

—

7.07 (3.1–15.9)

0/21 (0.0)

3/192 (1.6)

0.0

—

0.00

13/138 (9.4)

15/883 (1.7)

5.77 (2.7–12.3)

—

6.02 (2.8–13.0)

  

22

T/T

104/117 (88.9)

679/691 (98.3)

 

—

 

21/21 (100.0)

189/192 (98.4)

—

—

—

125/138 (90.6)

868/883 (98.3)

 

—

 
 

rs113301740

11

A/A

0/117 (0.0)

0/691 (0.0)

7.76 × 10 −8

—

6.11 × 10 −8

0/21 (0.0)

0/192 (0.0)

1.00*

—

1.00*

0/138 (0.0)

0/883 (0.0)

2.91 ×10−7

—

2.40 ×10−7

  

12

A/C

13/117 (11.1)

12/691 (1.7)

6.72 (3.0–14.9)

—

7.07 (3.1–15.9)

0/21 (0.0)

3/192 (1.6)

0.0

—

0.0

13/138 (9.4)

15/883 (1.7)

5.77 (2.7–12.3)

—

 
  

22

C/C

104/117 (88.9)

679/691 (98.3)

 

—

 

21/21 (100.0)

189/192 (98.4)

—

—

—

125/138 (90.6)

868/883 (98.3)

 

—

 

16

rs6500265

11

T/T

11/117 (9.4)

11/691 (1.6)

1.89 × 10 −8

1.59 × 10−6

3.63 × 10−6

3/21 (14.3)

4/192 (2.1)

0.0782

0.0225*

0.356

14/138 (10.1)

15/883 (1.7)

1.16 × 10 −8

2.79 × 10 −8

7.88 × 10−6

  

12

T/C

42/117 (35.9)

159/691 (23.0)

2.5 (1.8–3.5)

6.42 (2.7–15.2)

2.54 (1.7–3.8)

6/21 (28.6)

59/192 (30.7)

1.89 (0.9–3.9)

7.83 (1.6–37.8)

1.54 (0.6–3.8)

48/138 (34.8)

218/883 (24.7)

2.33 (1.7–3.1)

6.53 (3.1–13.9)

2.28 (1.6–3.3)

  

22

C/C

64/117 (54.7)

521/691 (75.4)

   

12/21 (57.1)

129/192 (67.2)

   

76/138 (55.1)

650/883 (73.6)

   
 

rs9888871

11

C/C

4/117 (3.4)

3/691 (0.4)

3.97 × 10 −8

1.03 × 10−2*

2.35 × 10−7

3/21 (14.3)

1/192 (0.5)

0.0365

3.13 × 10−3*

0.345

7/138 (5.1)

4/883 (0.5)

1.26 × 10 −8

1.47 ×10−4*

8.03 ×10−7

  

12

C/G

39/117 (33.3)

110/691 (15.9)

2.74 (1.9–4.0)

8.12 (1.8–36.8)

2.97 (1.9–4.6)

4/21 (19.0)

45/192 (23.4)

2.24 (1.0–4.9)

31.8 (3.1–322.0)

1.59 (0.6–4.2)

43/138 (31.2)

155/883 (17.6)

2.56 (1.8–3.6)

11.7 (3.4–40.7)

2.59 (1.8–3.8)

  

22

G/G

74/117 (63.2)

578/691 (83.6)

   

14/21 (66.7)

146/192 (76.0)

   

88/138 (63.8)

724/883 (82.0)

   
 

rs9933632

11

T/T

11/117 (9.4)

12/691 (1.7)

3.61 × 10 −8

4.02 × 10−6

5.26 × 10−6

3/21 (14.3)

5/192 (2.6)

0.087

0.0337*

0.356

14/138 (10.1)

17/883 (1.9)

2.38 × 10 −8

1.66 × 10−7

1.06 × 10−5

  

12

T/G

42/117 (35.9)

160/691 (23.2)

2.45 (1.8–3.4)

5.87 (2.5–13.6)

2.5 (1.7–3.7)

6/21 (28.6)

58/192 (30.2)

1.86 (0.9–3.8)

6.23 (1.4–28.2)

1.54 (0.6–3.8)

48/138 (34.8)

218/883 (24.7)

2.28 (1.7–3.1)

5.75 (2.8–12.0)

2.25 (1.6–3.2)

  

22

G/G

64/117 (54.7)

519/691 (75.1)

   

12/21 (57.1)

129/192 (67.2)

   

76/138 (55.1)

648/883 (73.4)

   
  1. Abbreviations: CI, confidence interval; OR, odds ratio.
  2. aP-value for allele or genotype frequency comparisons between patient and control samples using the χ2 test (Pearson's) or the Fisher's exact test (*). Bold entries indicate P<10−7.
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