Table 1.
Summary of genome-wide associated variants for the GWAS of BIS scores in JME (n = 324).
| 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 |
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.
All observed sample allele frequencies are comparable to those seen in the European 1000 Genomes (phase 3)60.
*The lead SNP for the mega-GWAS was rs146866040. The LD between them is r2 = 0.89 or D’ = 1.0.