Abstract

BackgroundThe aim of the present study was to compare the power of single nucleotide polymorphism (SNP)-based genome-wide association study (GWAS) and haplotype-based GWAS for quantitative trait loci (QTL) detection, and to detect novel candidate genes affecting economically important traits in a purebred Duroc population comprising seven-generation pedigree. First, we performed a simulation analysis using real genotype data of this population to compare the power (based on the null hypothesis) of the two methods. We then performed GWAS using both methods and real phenotype data comprising 52 traits, which included growth, carcass, and meat quality traits.ResultsIn total, 836 animals were genotyped using the Illumina PorcineSNP60 BeadChip and 14 customized SNPs from regions of known candidate genes related to the traits of interest. The power of SNP-based GWAS was greater than that of haplotype-based GWAS in a simulation analysis. In real data analysis, a larger number of significant regions was obtained by SNP-based GWAS than by haplotype-based GWAS. For SNP-based GWAS, 23 genome-wide significant SNP regions were detected for 17 traits, and 120 genome-wide suggestive SNP regions were detected for 27 traits. For haplotype-based GWAS, 6 genome-wide significant SNP regions were detected for four traits, and 11 genome-wide suggestive SNP regions were detected for eight traits. All genome-wide significant SNP regions detected by haplotype-based GWAS were located in regions also detected by SNP-based GWAS. Four regions detected by SNP-based GWAS were significantly associated with multiple traits: on Sus scrofa chromosome (SSC) 1 at 304 Mb; and on SSC7 at 35–39 Mb, 41–42 Mb, and 103 Mb. The vertnin gene (VRTN) in particular, was located on SSC7 at 103 Mb and was significantly associated with vertebrae number and carcass lengths. Mapped QTL regions contain some candidate genes involved in skeletal formation (FUBP3; far upstream element binding protein 3) and fat deposition (METTL3; methyltransferase like 3).ConclusionOur results show that a multigenerational pig population is useful for detecting QTL, which are typically segregated in a purebred population. In addition, a novel significant region could be detected by SNP-based GWAS as opposed to haplotype-based GWAS.Electronic supplementary materialThe online version of this article (doi:10.1186/s12863-016-0368-3) contains supplementary material, which is available to authorized users.

Highlights

  • The aim of the present study was to compare the power of single nucleotide polymorphism (SNP)based genome-wide association study (GWAS) and haplotype-based genome-wide association studies (GWAS) for quantitative trait loci (QTL) detection, and to detect novel candidate genes affecting economically important traits in a purebred Duroc population comprising seven-generation pedigree

  • For SNP-based GWAS, the similar trend of the results was observed in the power to detect QTL with high and low minor allele frequency (MAF)

  • QTL with smaller heritabilities and both MAFs could be detected by SNP-based GWAS

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Summary

Introduction

The aim of the present study was to compare the power of single nucleotide polymorphism (SNP)based genome-wide association study (GWAS) and haplotype-based GWAS for quantitative trait loci (QTL) detection, and to detect novel candidate genes affecting economically important traits in a purebred Duroc population comprising seven-generation pedigree. Using a purebred Duroc population comprised of multigenerational pedigree, these researchers detected several QTL and further fine mapping studies revealed significant SNPs in positional candidate genes, such as the stearoyl-CoA desaturase (SCD) gene for fatty acid composition [5] and the leptin receptor (LEPR) gene for fat accumulation [6]. These QTL can be used in the breeding management of purebred populations. Closed-line breeding population is useful to detect QTL

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