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. 2020 Nov 26;11:588907. doi: 10.3389/fgene.2020.588907

TABLE 5.

Relationship between haplotype epistasis heritability and prediction accuracy for best haplotype prediction models.

Trait HDL LDL TC TG HTO Weight BMIO
SNP model with additive values (A), MAF = 0.05
Additive heritability (h^s12 = h^α12) 0.409 0.469 0.409 0.312 0.773 0.493 0.424
SNP model with additive values (A), MAF = 0.10
Additive heritability (h^s12 = h^α12) 0.401 0.464 0.402 0.308 0.760 0.483 0.417
SNP model with additive and dominance values (A + D), MAF = 0.05
Additive heritability (h^α22) 0.386 0.406 0.389 0.260 0.739 0.474 0.415
Dominance heritability (h^δ2) 0.121 0.174 0.102 0.125 0.198 0.088 0.044
SNP total heritability (h^s2) 0.507 0.580 0.491 0.385 0.937 0.562 0.459
SNP model with additive and dominance values (A + D), MAF = 0.10
Additive heritability (h^α22) 0.378 0.404 0.381 0.257 0.724 0.462 0.407
Dominance heritability (h^δ2) 0.122 0.170 0.107 0.126 0.212 0.098 0.049
SNP total heritability (h^s2) 0.500 0.574 0.488 0.382 0.935 0.560 0.456
Haplotype prediction models
MAF 0.05 0.05 0.05 0.10 0.05 0.05 0.05
Best prediction model A + D + H H D + H H A + D + H A + D + H A + H
Best haplotype blocking method Genes 12 SNPs 50 Kb 50 Kb 200 Kb 12 SNPs 100 Kb
Accuracy increase (%) 2.76 8.12 3.15 3.29 2.18 1.86 2.17
SNP additive heritability (h^αs2) 0.070 - - - 0.359 0.124 0.123
SNP dominance heritability (h^δs2) 0.094 - 0.077 - 0.147 0.057 -
Haplotype additive heritability (h^αh2) 0.394 0.616 0.452 0.353 0.494 0.422 0.366
Total heritability (h^g2) 0.558 0.616 0.530 0.353 0.999 0.603 0.488
Estimates of haplotype epistasis heritability
Haplotype epistasis heritability (h^E2) 0.051 0.147 0.039 0.045 0.062 0.041 0.064
Relative haplotype epistasis heritability (h^Er2,%) 13.27 31.27 10.03 14.53 8.90 8.65 15.05

Accuracy increase is the percentage increase in observed prediction accuracy of the best haplotype model relative to the accuracy of the best SNP model (in bold face). A, SNP additive values; D, SNP dominance values; H, haplotype additive values; MAF, minor allele frequency; SNP total heritability is the sum of SNP additive and dominance heritabilities (Eq. 12). Total heritability is the sum of all heritabilities of genetic values in the model with haplotypes (Eqs. 7–10). Haplotype epistasis heritability was calculated using Eqs. 13–16. Relative haplotype epistasis heritability was calculated using Eqs. 17 and 18.