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. 2014 Jul 25;137(10):2680–2689. doi: 10.1093/brain/awu206

Table 1.

Estimates of variance explained by common SNPs

Phenotype Population Sibling Total liability Genotyped SNPs
Imputed SNPs
Prevalence Relative risk Heritability, hT2 hO2 hL2 hO2 hL2 hC2
All epilepsy (1258 cases) 0.005 3.3 [2.5–4.3] 32 [24–41] 31 (6) 23 (4) 42 (6) 31 (5) 26
Focal (958 cases) 0.003 2.6 [1.2–5.3] 23 [5–43] 33 (6) 27 (5) 41 (7) 33 (5) 27
Non-focal (300 cases) 0.002 4.7 [2.1–10.8] 36 [15–59] 21 (7) 38 (12) 24 (8) 46 (14) 44

For each phenotypes, we report estimates of hO2, the percentage of variance explained on the observed scale (cases 1, controls 0), and hL2, the corresponding estimate on the liability scale (standard deviations provided in parentheses). hC2 is obtained from hL2 by subtracting the estimated inflation due to population stratification and genotyping errors (see text). For comparison, hT2, the total liability heritability, is estimated for each phenotype based on the prevalence and reported estimates of sibling relative risk (95% CI shown in square brackets).