Abstract

BackgroundA better understanding of non-additive variance could lead to increased knowledge on the genetic control and physiology of quantitative traits, and to improved prediction of the genetic value and phenotype of individuals. Genome-wide panels of single nucleotide polymorphisms (SNPs) have been mainly used to map additive effects for quantitative traits, but they can also be used to investigate non-additive effects. We estimated dominance and epistatic effects of SNPs on various traits in beef cattle and the variance explained by dominance, and quantified the increase in accuracy of phenotype prediction by including dominance deviations in its estimation.MethodsGenotype data (729 068 real or imputed SNPs) and phenotypes on up to 16 traits of 10 191 individuals from Bos taurus, Bos indicus and composite breeds were used. A genome-wide association study was performed by fitting the additive and dominance effects of single SNPs. The dominance variance was estimated by fitting a dominance relationship matrix constructed from the 729 068 SNPs. The accuracy of predicted phenotypic values was evaluated by best linear unbiased prediction using the additive and dominance relationship matrices. Epistatic interactions (additive × additive) were tested between each of the 28 SNPs that are known to have additive effects on multiple traits, and each of the other remaining 729 067 SNPs.ResultsThe number of significant dominance effects was greater than expected by chance and most of them were in the direction that is presumed to increase fitness and in the opposite direction to inbreeding depression. Estimates of dominance variance explained by SNPs varied widely between traits, but had large standard errors. The median dominance variance across the 16 traits was equal to 5% of the phenotypic variance. Including a dominance deviation in the prediction did not significantly increase its accuracy for any of the phenotypes. The number of additive × additive epistatic effects that were statistically significant was greater than expected by chance.ConclusionsSignificant dominance and epistatic effects occur for growth, carcass and fertility traits in beef cattle but they are difficult to estimate precisely and including them in phenotype prediction does not increase its accuracy.

Highlights

  • A better understanding of non-additive variance could lead to increased knowledge on the genetic control and physiology of quantitative traits, and to improved prediction of the genetic value and phenotype of individuals

  • Only 185 of the 191 single nucleotide polymorphisms (SNPs) could be tested for dominance because, for the other six SNPs, not all three genotypes were represented in the validation population

  • Among the SNPs that had a positive effect in the discovery population, 66% had a positive effect in the validation population and among those that had a negative effect in the discovery population, 56% had a negative effect in the validation population

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Summary

Introduction

A better understanding of non-additive variance could lead to increased knowledge on the genetic control and physiology of quantitative traits, and to improved prediction of the genetic value and phenotype of individuals. Mutations of large effects often show non-additive effects on the phenotype such as dominance and epistasis and one well-known example is the coat colour of mice [1]. It is uncertain how important these non-additive effects are for polymorphisms that control variation in complex or quantitative traits. Genome-wide dense single nucleotide polymorphisms (SNPs) have been widely used in cattle for association studies [8,9,10,11,12] and genomic prediction [13,14,15] and represent a new opportunity to estimate non-additive effects at individual loci and to estimate non-additive variances. It is possible that the proportion of variance that is explained by non-additive effects varies between traits

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