ORCID Profile
0000-0003-0040-1958
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Publisher: Cold Spring Harbor Laboratory
Date: 24-07-2019
DOI: 10.1101/713669
Abstract: While over ten thousand genetic loci have been associated with phenotypic traits and inherited diseases in genome-wide association studies, in most cases only a relatively small proportion of the trait heritability is explained and biological mechanisms underpinning these traits have not been clearly identified. Expression quantitative trait loci (eQTL) are subsets of genomic loci shown experimentally to influence gene expression. Since gene expression is one of the primary determinants of phenotype, the identification of eQTL may reveal biologically relevant loci and provide functional links between genomic variants, gene expression and ultimately phenotype. Skeletal muscle (gluteus medius) gene expression was quantified by RNA-seq for 111 Thoroughbreds (47 male, 64 female) in race training at a single training establishment s led at two time-points: at rest ( n = 92) and four hours after high-intensity exercise ( n = 77) n = 60 were s led at both time points. Genotypes were generated from the Illumina Equine SNP70 BeadChip. Applying a Benjamini-Hochberg corrected P -value threshold ( P FDR 0.05), association tests identified 3,583 cis -eQTL associated with expression of 1,456 genes at rest 4,992 cis -eQTL associated with the expression of 1,922 genes post-exercise 1,703 trans -eQTL associated with 563 genes at rest and 1,219 trans -eQTL associated with 425 genes post-exercise. The gene with the highest cis -eQTL association at both time-points was the endosome-associated-trafficking regulator 1 gene ( ENTR1 Rest: P FDR = 3.81 × 10 −27 , Post-exercise: P FDR = 1.66 × 10 −24 ), which has a potential role in the transcriptional regulation of the solute carrier family 2 member 1 glucose transporter protein (SLC2A1). Functional analysis of genes with significant eQTL revealed significant enrichment for cofactor metabolic processes. These results suggest heritable variation in genomic elements such as regulatory sequences (e.g. gene promoters, enhancers, silencers), microRNA and transcription factor genes, which are associated with metabolic function and may have roles in determining end-point muscle and athletic performance phenotypes in Thoroughbred horses.
Publisher: Wiley
Date: 11-09-2019
DOI: 10.1111/AGE.12848
Abstract: Despite strong selection for athletic traits in Thoroughbred horses, there is marked variation in speed and aptitude for racing performance within the breed. Using global positioning system monitoring during exercise training, we measured speed variables and temporal changes in speed with age to derive phenotypes for GWAS. The aim of the study was to test the hypothesis that genetic variation contributes to variation in end-point physiological traits, in this case galloping speed measured during field exercise tests. Standardisation of field-measured phenotypes was attempted by assessing horses exercised on the same gallop track and managed under similar conditions by a single trainer. PCA of six key speed indices captured 73.9% of the variation with principal component 1 (PC1). Verifying the utility of the phenotype, we observed that PC1 (median) in 2-year-old horses was significantly different among elite, non-elite and unraced horses (P T SNP genotypes. A GWAS for PC1 in 2-year-old horses (n = 122) identified four SNPs reaching the suggestive threshold for association (P < 4.80 × 10
Location: Ireland
No related grants have been discovered for Katie Gough.