Mammalian Genome

, Volume 23, Issue 3–4, pp 294–303 | Cite as

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

  • Laura J. CorbinEmail author
  • Sarah C. Blott
  • June E. Swinburne
  • Charlene Sibbons
  • Laura Y. Fox-Clipsham
  • Maud Helwegen
  • Tim D. H. Parkin
  • J. Richard Newton
  • Lawrence R. Bramlage
  • C. Wayne McIlwraith
  • Stephen C. Bishop
  • John A. Woolliams
  • Mark Vaudin


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.


Quantitative Trait Locus Minor Allele Frequency Quantitative Trait Locus Region Osteochondritis Dissecans Quantitative Trait Locus Study 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



LJC thanks A. Tenesa and R. Pong-Wong for helpful discussions and S. Miller for help with data preparation. LJC also thanks two anonymous referees for their helpful comments. Samples from OCD cases and controls were provided by LRB. LJC, JAW, and S. C. Bishop are financially supported by the British Equestrian Federation, the Biosciences Knowledge Transfer Network, and the Biotechnology and Biological Sciences Research Council (BBSRC). S. C. Blott, JES, CS, LYF-C, MH, TDHP and the genotyping were funded by the Horserace Betting Levy Board and the Thoroughbred Breeders’ Association.

Supplementary material

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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Laura J. Corbin
    • 1
    Email author
  • Sarah C. Blott
    • 2
  • June E. Swinburne
    • 2
  • Charlene Sibbons
    • 2
  • Laura Y. Fox-Clipsham
    • 2
  • Maud Helwegen
    • 2
  • Tim D. H. Parkin
    • 3
  • J. Richard Newton
    • 2
  • Lawrence R. Bramlage
    • 4
  • C. Wayne McIlwraith
    • 5
  • Stephen C. Bishop
    • 1
  • John A. Woolliams
    • 1
  • Mark Vaudin
    • 2
  1. 1.The Roslin Institute and Royal (Dick) School of Veterinary StudiesUniversity of EdinburghMidlothianScotland, UK
  2. 2.Animal Health TrustNewmarketUK
  3. 3.Boyd Orr Centre for Population and Ecosystem Health, Institute of Comparative Medicine, Faculty of Veterinary MedicineUniversity of GlasgowGlasgowScotland, UK
  4. 4.Rood and Riddle Equine HospitalLexingtonUSA
  5. 5.College of Veterinary Medicine and Biomedical SciencesColorado State UniversityFort CollinsUSA

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