Abstract

BackgroundLittle is known about the genetic architecture of economically important traits in Brown Swiss cattle because only few genome-wide association studies (GWAS) have been carried out in this breed. Moreover, most GWAS have been performed for single traits, thus not providing detailed insights into potentially existing pleiotropic effects of trait-associated loci.ResultsTo compile a comprehensive catalogue of large-effect quantitative trait loci (QTL) segregating in Brown Swiss cattle, we carried out association tests between partially imputed genotypes at 598,016 SNPs and daughter-derived phenotypes for more than 50 economically important traits, including milk production, growth and carcass quality, body conformation, reproduction and calving traits in 4578 artificial insemination bulls from two cohorts of Brown Swiss cattle (Austrian-German and Swiss populations). Across-cohort multi-trait meta-analyses of the results from the single-trait GWAS revealed 25 quantitative trait loci (QTL; P < 8.36 × 10− 8) for economically relevant traits on 17 Bos taurus autosomes (BTA). Evidence of pleiotropy was detected at five QTL located on BTA5, 6, 17, 21 and 25. Of these, two QTL at BTA6:90,486,780 and BTA25:1,455,150 affect a diverse range of economically important traits, including traits related to body conformation, calving, longevity and milking speed. Furthermore, the QTL at BTA6:90,486,780 seems to be a target of ongoing selection as evidenced by an integrated haplotype score of 2.49 and significant changes in allele frequency over the past 25 years, whereas either no or only weak evidence of selection was detected at all other QTL.ConclusionsOur findings provide a comprehensive overview of QTL segregating in Brown Swiss cattle. Detected QTL explain between 2 and 10% of the variation in the estimated breeding values and thus may be considered as the most important QTL segregating in the Brown Swiss cattle breed. Multi-trait association testing boosts the power to detect pleiotropic QTL and assesses the full spectrum of phenotypes that are affected by trait-associated variants.

Highlights

  • Little is known about the genetic architecture of economically important traits in Brown Swiss cattle because only few genome-wide association studies (GWAS) have been carried out in this breed

  • By grouping significant single nucleotide polymorphism (SNP) located within 5 million basepair (Mb) of the lead SNP, we identified between zero and seven quantitative trait loci (QTL) for the trait-cat meta-analyses

  • Here we report an overview of QTL affecting economically important traits in Brown Swiss cattle by applying a multi-trait test statistic

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Summary

Introduction

Little is known about the genetic architecture of economically important traits in Brown Swiss cattle because only few genome-wide association studies (GWAS) have been carried out in this breed. Genome-wide association studies (GWAS) between economically important traits and dense single nucleotide polymorphism (SNP) genotypes identified hundreds of quantitative trait loci (QTL) and thousands of trait-associated genetic variants in many cattle breeds [1]. Strong selection may result in regions of extended homozygosity along the genome, i.e., selective sweeps (see review [4]) Detecting such patterns could provide insight into responses of the cattle genome to past and ongoing natural and artificial selection and reveal loci and variants that underpin adaptive and economically important traits [5], enhancing our understanding of genetic mechanisms controlling phenotypes under selection [6, 7]. Because most of the association studies performed so far considered either only one trait at a time or were restricted to clusters of related traits, detecting QTL that are associated with seemingly unrelated traits was not possible in those studies and the extent to which pleiotropic QTL contribute to trait variation and correlation in Brown Swiss cattle is currently unknown

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