Genome-Wide Association Studies Based on Equine Joint Angle Measurements Reveal New QTL Affecting the Conformation of Horses.
Abstract: The evaluation of conformation traits is an important part of selection for breeding stallions and mares. Some of these judged conformation traits involve joint angles that are associated with performance, health, and longevity. To improve our understanding of the genetic background of joint angles in horses, we have objectively measured the angles of the poll, elbow, carpal, fetlock (front and hind), hip, stifle, and hock joints based on one photograph of each of the 300 Franches-Montagnes (FM) and 224 Lipizzan (LIP) horses. After quality control, genome-wide association studies (GWASs) for these traits were performed on 495 horses, using 374,070 genome-wide single nucleotide polymorphisms (SNPs) in a mixed-effect model. We identified two significant quantitative trait loci (QTL) for the poll angle on ECA28 (p = 1.36 × 10-7), 50 kb downstream of the ALX1 gene, involved in cranial morphology, and for the elbow joint on ECA29 (p = 1.69 × 10-7), 49 kb downstream of the RSU1 gene, and 75 kb upstream of the PTER gene. Both genes are associated with bone mineral density in humans. Furthermore, we identified other suggestive QTL associated with the stifle joint on ECA8 (p = 3.10 × 10-7); the poll on ECA1 (p = 6.83 × 10-7); the fetlock joint of the hind limb on ECA27 (p = 5.42 × 10-7); and the carpal joint angle on ECA3 (p = 6.24 × 10-7), ECA4 (p = 6.07 × 10-7), and ECA7 (p = 8.83 × 10-7). The application of angular measurements in genetic studies may increase our understanding of the underlying genetic effects of important traits in equine breeding.
Publication Date: 2019-05-14 PubMed ID: 31091839PubMed Central: PMC6562990DOI: 10.3390/genes10050370Google Scholar: Lookup
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- Journal Article
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Summary
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This research article explores genetic factors affecting the joint angles in horses, specifically those in Franches-Montagnes (FM) and Lipizzan (LIP) breeds. By studying these factors, the researchers hope to increase understanding of traits critical to equine breeding.
Research Methodology
- The researchers took photographs of 300 Franches-Montagnes (FM) and 224 Lipizzan (LIP) horses and objectively measured the angles of several joints including the poll, elbow, carpal, fetlock (front and hind), hip, stifle, and hock joints.
- Following a quality control process, researchers conducted Genome-wide association studies (GWASs) on these measurements across 495 horses. The GWASs made use of 374,070 genome-wide single nucleotide polymorphisms (SNPs), which are variations occurring at a single position in the DNA sequence among individuals.
Findings
- Two significant quantitative trait loci (QTL), which are areas in the DNA where the trait variance is thought to be linked to, were identified for the poll angle on ECA28. This area is 50 kb downstream of a certain gene involved in cranial morphology.
- Another QTL was identified for the elbow joint on ECA29, which is 49kb downstream of one gene and 75kb upstream of another. The two genes at this locus are known to influence bone mineral density in humans.
- Additionally, researchers discovered suggestive QTLs associated with the stifle joint on ECA8; the poll on ECA1; the fetlock joint of the hind limb on ECA27; and the carpal joint angle on ECA3, ECA4, and ECA7.
Implications
- These findings provide new contributions to the understanding of the genetic effects impacting critical traits in equine breeding. Understanding the relationship between genetic factors and equine joint angles can lead to more comprehensive breeding selections for better performance, health and longevity.
- The application of angular measurements in genetic studies, as demonstrated in this research, could be a valuable tool for augmenting the current knowledge of equine genetics and its link to essential physical traits.
Cite This Article
APA
Gmel AI, Druml T, von Niederhäusern R, Leeb T, Neuditschko M.
(2019).
Genome-Wide Association Studies Based on Equine Joint Angle Measurements Reveal New QTL Affecting the Conformation of Horses.
Genes (Basel), 10(5).
https://doi.org/10.3390/genes10050370 Publication
Researcher Affiliations
- Agroscope-Swiss National Stud Farm, Les Longs-Prés, 1580 Avenches, Switzerland. annik.gmel@agroscope.admin.ch.
- Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3012 Bern, Switzerland. annik.gmel@agroscope.admin.ch.
- Institute of Animal Breeding and Genetics, Veterinary University Vienna, Veterinärplatz 1, A-1210 Vienna, Austria. tosso.leeb@vetsuisse.unibe.ch.
- Agroscope-Swiss National Stud Farm, Les Longs-Prés, 1580 Avenches, Switzerland. ruedi.vonniederhaeusern@agroscope.admin.ch.
- Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3012 Bern, Switzerland. tosso.leeb@vetsuisse.unibe.ch.
- Agroscope-Swiss National Stud Farm, Les Longs-Prés, 1580 Avenches, Switzerland. markus.neuditschko@agroscope.admin.ch.
MeSH Terms
- Animal Husbandry / methods
- Animals
- Breeding
- Female
- Genome-Wide Association Study
- Genotype
- Hindlimb
- Horse Diseases / genetics
- Horses / genetics
- Horses / growth & development
- Joints / anatomy & histology
- Joints / physiology
- Male
- Phenotype
- Quantitative Trait Loci / genetics
- Selective Breeding / genetics
- Tarsus, Animal
Conflict of Interest Statement
The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.
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