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Mammalian genome : official journal of the International Mammalian Genome Society2011; 23(3-4); 294-303; doi: 10.1007/s00335-011-9363-1

A genome-wide association study of osteochondritis dissecans in the Thoroughbred.

Abstract: Osteochondrosis is a developmental orthopaedic disease that occurs in horses, other livestock species, companion animal species, and humans. The principal aim of this study was to identify quantitative trait loci (QTL) associated with osteochondritis dissecans (OCD) in the Thoroughbred using a genome-wide association study. A secondary objective was to test the effect of previously identified QTL in the current population. Over 300 horses, classified as cases or controls according to clinical findings, were genotyped for the Illumina Equine SNP50 BeadChip. An animal model was first implemented in order to adjust each horse's phenotypic status for average relatedness among horses and other potentially confounding factors which were present in the data. The genome-wide association test was then conducted on the residuals from the animal model. A single SNP on chromosome 3 was found to be associated with OCD at a genome-wide level of significance, as determined by permutation. According to the current sequence annotation, the SNP is located in an intergenic region of the genome. The effects of 24 SNPs, representing QTL previously identified in a sample of Hanoverian Warmblood horses, were tested directly in the animal model. When fitted alongside the significant SNP on ECA3, two of these SNPs were found to be associated with OCD. Confirmation of the putative QTL identified on ECA3 requires validation in an independent sample. The results of this study suggest that a significant challenge faced by equine researchers is the generation of sufficiently large data sets to effectively study complex diseases such as osteochondrosis.
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Publication Date: 2011-11-04 PubMed ID: 22052004DOI: 10.1007/s00335-011-9363-1Google Scholar: Lookup
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  • Journal Article
  • Research Support
  • Non-U.S. Gov't

Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

This research aimed to identify genetic markers associated with a developmental orthopaedic disease in horses called osteochondritis dissecans (OCD) by employing a genome-wide association study. The study found a single significant marker on chromosome 3 and the impact of previously identified markers was also tested in this population.

Objective

  • The main objective of the study was to identify genetic markers, known as quantitative trait loci (QTL), associated with a developmental orthopaedic disease called osteochondritis dissecans (OCD) in Thoroughbred horses using a genetic research method called a genome-wide association study. OCD not only affects horses, but also other livestock, companion animals, and humans.
  • The secondary objective was to test the effects of QTL that had been previously identified in a different sample group, namely Hanoverian Warmblood horses.

Method

  • The study used over 300 horses, each classified as either a case (those with OCD) or a control (those without OCD) based on clinical findings.
  • These horses were then genotyped using the Illumina Equine SNP50 BeadChip, a testing platform used for DNA analysis.
  • An animal model was used to adjust the phenotypic (observable characteristics) status of each horse to account for any potentially confounding factors and the average relatedness among the horses.
  • The genome-wide association test was then run on the resulting data. The results of this test can identify the QTL associated with OCD.

Results

  • A single SNP (single nucleotide polymorphism – a variation at a single position in the DNA sequence) on chromosome 3 was found to be significantly associated with OCD.
  • The SNP, according to current genetic mapping, is located in an intergenic region of the genome, meaning it is located in a non-coding region between genes.
  • Effects of 24 SNPs, which correspond to QTL previously identified in Hanoverian Warmblood horses, were tested in the animal model used in this study. Alongside the significant SNP on ECA3, two of these SNPs were found to be associated with OCD.
  • The researchers stated that the putative QTL identified on ECA3 (chromosome 3) needs to be validated in an independent sample to confirm its association with OCD.

Conclusion

  • The study highlighted the challenges faced by researchers studying complex diseases like OCD in equines, underlining the need to generate sufficiently large data sets to produce effective results.

Cite This Article

APA
Corbin LJ, Blott SC, Swinburne JE, Sibbons C, Fox-Clipsham LY, Helwegen M, Parkin TD, Newton JR, Bramlage LR, McIlwraith CW, Bishop SC, Woolliams JA, Vaudin M. (2011). A genome-wide association study of osteochondritis dissecans in the Thoroughbred. Mamm Genome, 23(3-4), 294-303. https://doi.org/10.1007/s00335-011-9363-1

Publication

Mammalian genome : official journal of the International Mammalian Genome Society
ISSN: 1432-1777
NlmUniqueID: 9100916
Country: United States
Language: English
Volume: 23
Issue: 3-4
Pages: 294-303

Researcher Affiliations

Corbin, Laura J
  • The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush Campus, Midlothian, EH25 9RG, Scotland, UK. laura.corbin@roslin.ed.ac.uk
Blott, Sarah C
    Swinburne, June E
      Sibbons, Charlene
        Fox-Clipsham, Laura Y
          Helwegen, Maud
            Parkin, Tim D H
              Newton, J Richard
                Bramlage, Lawrence R
                  McIlwraith, C Wayne
                    Bishop, Stephen C
                      Woolliams, John A
                        Vaudin, Mark

                          MeSH Terms

                          • Animals
                          • Female
                          • Genome-Wide Association Study / veterinary
                          • Horse Diseases / genetics
                          • Horses
                          • Male
                          • Osteochondritis Dissecans / genetics
                          • Osteochondritis Dissecans / veterinary
                          • Polymorphism, Single Nucleotide
                          • Quantitative Trait Loci

                          Grant Funding

                          • BBS/E/D/05191132 / Biotechnology and Biological Sciences Research Council

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