The impact of QTL allele frequency distribution on the accuracy of genomic prediction

Abstract

Abstract. The accuracy of genomic prediction of quantitative traits based on single nucleotide polymorphism (SNP) markers depends among other factors on the allele frequency distribution of quantitative trait loci (QTL). Therefore, the aim of this study was to investigate different QTL allele frequency distributions and their effect on the accuracy of genomic estimated breeding values (GEBVs) using best linear unbiased genomic prediction (GBLUP) in simulated data. A population of 1000 individuals composed of 500 males and 500 females as well as a genome of 1000 cM consisting of 10 chromosomes and with a mutation rate of 2.5 × 10−5 per locus was simulated. QTL frequencies were derived from five distributions of allele frequency including constant, uniform, U-shaped, L-shaped and minor allele frequency (MAF) less than 0.01 (lowMAF). QTL effects were generated from a standard normal distribution. The number of QTL was assumed to be 500, and the simulation was done in 10 replications. The genomic prediction accuracy in the first-validation generation in constant, and the uniform allele frequency distribution was 0.59 and 0.57, respectively. Results showed that the highest accuracy of GEBVs was obtained with constant and uniform distributions followed by L-shaped, U-shaped and lowMAF QTL allele frequency distribution. The regression of true breeding values on predicted breeding values in the first-validation generation was 0.94, 0.92, 0.88, 0.85 and 0.75 for constant, uniform, L-shaped, U-shaped and lowMAF distributions, respectively. Depite different values of regression coefficients, in all scenarios GEBVs are biased downward. Overall, results showed that when QTL had a lower MAF relative to SNP markers, a low linkage disequilibrium (LD) was observed, which had a negative effect on the accuracy of GEBVs. Hence, the effect of the QTL allele frequency distribution on prediction accuracy can be alleviated through using a genomic relationship weighted by MAF or an LD-adjusted relationship matrix.