Table 1 Summary of genome-wide associated variants for the GWAS of BIS scores in JME (n = 324).

From: SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

 

European GWAS (n = 324)

Mega-GWAS (n = 372)

Variant ID (hg38)

Imputation r2

MAF

Beta

SE

P value

MAF

Beta

SE

P value

chr8:69,884,968* rs73293634 (G/T)

0.961

0.036 (T)

5.42

0.91

7.5 × 10−9

0.041

4.55

0.79

1.61 × 10−8

chr8:69,876,965 rs146866040 (A/G)

0.979

0.032 (G)

5.38

0.94

2.5 × 10−8

0.031

5.60

0.90

1.57 × 10−9

chr10:34,202,650 rs75042057 (T/G)

0.878

0.019 (G)

7.51

1.33

3.6 × 10−8

0.022

6.60

1.19

4.99 × 10−8

  1. Linear regression was used to test association of each SNP with BIS-Brief. Sex, genotyping batch, age at consent, first 3 PCs, and the frequency of myoclonus or absence seizures were included as covariates in the model in the European analysis. Sex, genotyping batch, and population stratification were included as covariates in the mega-GWAS.
  2. All observed sample allele frequencies are comparable to those seen in the European 1000 Genomes (phase 3)60.
  3. *The lead SNP for the mega-GWAS was rs146866040. The LD between them is r2 = 0.89 or D’ = 1.0.
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