Table 2 Candidate SNPs associated with AESD.

From: GWAS identifies candidate susceptibility loci and microRNA biomarkers for acute encephalopathy with biphasic seizures and late reduced diffusion

CHR

SNP

A1/A2

GWAS (252 cases vs. 792 controls)

Replication test (22 cases vs. 4773 controls)

Combined test (274 cases vs. 5565 controls)

Regulome DBc

MAF in cases

MAF in controls

pa

OR (95%CI)

MAF in cases

MAF in controls

p-Fisherb

OR (95%CI)

MAF in cases

MAF in controls

p-Fishera

OR (95%CI)

2

rs1850440

T/C

0.44

0.31

2.44 × 10–7

1.71 (1.40–2.10)

0.39

0.36

7.56 × 10–1

1.10 (0.56–2.10)

0.43

0.36

3.11 × 10–4

1.38 (1.16–1.65)

1f.

5

rs12656207

G/C

0.39

0.27

1.49 × 10–6

1.67 (1.36–2.06)

0.31

0.28

6.09 × 10–1

1.17 (0.56–2.32)

0.38

0.28

3.66 × 10–7

1.60 (1.34–1.92)

NA

6

rs9349362

T/C

0.51

0.39

1.57 × 10–6

1.64 (1.34–2.00)

0.34

0.39

5.38 × 10–1

0.79 (0.40–1.53)

0.5

0.39

1.03 × 10–6

1.54 (1.29–1.83)

5

2

rs12616661

T/C

0.18

0.098

2.08 × 10–6

1.96 (1.48–2.60)

0.11

0.12

1.00

0.94 (0.29–2.38)

0.17

0.12

2.64 × 10–4

1.56 (1.22–1.96)

5

11

rs11213425

C/T

0.15

0.25

2.52 × 10–6

0.53 (0.40–0.69)

0.29

0.22

2.67 × 10–1

1.44 (0.67–2.90)

0.16

0.22

8.00 × 10–4

0.68 (0.53–0.86)

NA

19

rs60651483

T/C

0.16

0.26

4.19 × 10–6

0.54 (0.42–0.71)

0.18

0.22

7.14 × 10–1

0.80 (0.32–1.75)

0.16

0.22

5.92 × 10–4

0.67 (0.53–0.85)

5

18

rs7243486

T/G

0.16

0.26

4.46 × 10–6

0.54 (0.42–0.71)

0.31

0.23

2.72 × 10–1

1.47 (0.70–2.92)

0.17

0.24

3.47 × 10–4

0.67 (0.53–0.84)

4

2

rs12692878

T/C

0.38

0.49

7.57 × 10–6

0.63 (0.51–0.77)

0.48

0.45

7.57 × 10–1

1.12 (0.58–2.16)

0.38

0.45

1.51 × 10–3

0.75 (0.63–0.90)

1f.

  1. The SNPs with replicable odds ratios in the replication study were shown in bold.
  2. CHR: chromosome; A1: minor allele; A2: major allele; MAF: minor allele frequency; p-Fisher: p-value calculated using Fisher’s exact test; OR: odds ratio; 95% CI: 95% confidence interval; NA: not applicable.
  3. aGenome-wide significance p-value = 5.0 × 10–8, suggestive significance p-value = 1.0 × 10–5.
  4. bSignificance levels were adjusted by the number of comparisons to correct for multiple testing. The significance level was set at p < 6.2 × 10–3 (adjusted α = 0.05/8).
  5. cFunctional prediction scores of each SNP by RegulomeDB database.
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