Whole genome association study identifies regions of the bovine genome and biological pathways involved in carcass trait performance in Holstein-Friesian cattle

Anthony G Doran, Donagh P Berry, Christopher J Creevey

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BACKGROUND: Four traits related to carcass performance have been identified as economically important in beef production: carcass weight, carcass fat, carcass conformation of progeny and cull cow carcass weight. Although Holstein-Friesian cattle are primarily utilized for milk production, they are also an important source of meat for beef production and export. Because of this, there is great interest in understanding the underlying genomic structure influencing these traits. Several genome-wide association studies have identified regions of the bovine genome associated with growth or carcass traits, however, little is known about the mechanisms or underlying biological pathways involved. This study aims to detect regions of the bovine genome associated with carcass performance traits (employing a panel of 54,001 SNPs) using measures of genetic merit (as predicted transmitting abilities) for 5,705 Irish Holstein-Friesian animals. Candidate genes and biological pathways were then identified for each trait under investigation.

RESULTS: Following adjustment for false discovery (q-value < 0.05), 479 quantitative trait loci (QTL) were associated with at least one of the four carcass traits using a single SNP regression approach. Using a Bayesian approach, 46 QTL were associated (posterior probability > 0.5) with at least one of the four traits. In total, 557 unique bovine genes, which mapped to 426 human orthologs, were within 500kbs of QTL found associated with a trait using the Bayesian approach. Using this information, 24 significantly over-represented pathways were identified across all traits. The most significantly over-represented biological pathway was the peroxisome proliferator-activated receptor (PPAR) signaling pathway.

CONCLUSIONS: A large number of genomic regions putatively associated with bovine carcass traits were detected using two different statistical approaches. Notably, several significant associations were detected in close proximity to genes with a known role in animal growth such as glucagon and leptin. Several biological pathways, including PPAR signaling, were shown to be involved in various aspects of bovine carcass performance. These core genes and biological processes may form the foundation for further investigation to identify causative mutations involved in each trait. Results reported here support previous findings suggesting conservation of key biological processes involved in growth and metabolism.

Original languageEnglish
Article number837
JournalBMC Genomics
Issue number1
Publication statusPublished - 01 Oct 2014


  • genome-wide association
  • single nucleotide polymorphism
  • Holstein-Friesian
  • carcass
  • biological pathways
  • Biological pathways
  • Genome-wide association
  • Single nucleotide polymorphism
  • Carcass
  • Genome-Wide Association Study
  • Signal Transduction/genetics
  • Genotype
  • Leptin/genetics
  • Phosphatidylinositols/metabolism
  • Glucagon/genetics
  • Microsatellite Repeats/genetics
  • Phenotype
  • Animals
  • Cattle
  • Bayes Theorem
  • Polymorphism, Single Nucleotide
  • Genome
  • Quantitative Trait Loci
  • Peroxisome Proliferator-Activated Receptors/genetics


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