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Animal genetics2018; 50(1); 78-81; doi: 10.1111/age.12738

SNP-based heritability and genetic architecture of tarsal osteochondrosis in North American Standardbred horses.

Abstract: Osteochondrosis is a common developmental orthopedic disease characterized by a failure of endochondral ossification. Standardbred horses are recognized as being predisposed to tarsal osteochondrosis. Prior heritability estimates for tarsal osteochondrosis in European Standardbreds and related trotting breeds have been based on pedigree data and range from 17-29%. Here, we report on genetic architecture and heritability based on high-density genotyping data in a cohort of North American Standardbreds (n = 479) stringently phenotyped for tarsal osteochondrosis. Whole-genome array genotyping data were imputed to ~2 million single nucleotide polymorphisms (SNPs). SNP-based heritability of osteochondrosis in this population was explained by 2326 SNPs. The majority of these SNPs (86.6%) had small effects, whereas fewer SNPs had moderate or large effects (10% and 2.9% respectively), which is consistent with a polygenic/complex disease. Heritability was estimated at 0.24 ± 0.16 using two methods of restricted maximum likelihood analysis, as implemented in gcta (with and without a weighted relatedness matrix) and ldak software. Estimates were validated using bootstrapping. Heritability estimates were within the range previously reported and suggest that osteochondrosis is moderately heritable but that a significant portion of disease risk is due to environmental factors and/or genotype × environment interactions. Future identification of the genes/variants that have the most impact on disease risk may allow early recognition of high-risk individuals.
Publication Date: 2018-10-24 PubMed ID: 30353927DOI: 10.1111/age.12738Google Scholar: Lookup
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  • Journal Article

Summary

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The research article looks into the genetic basis and heritability conditions of tarsal osteochondrosis in North American Standardbred horses using a method based on single nucleotide polymorphisms (SNPs).

Research Objective and Methodology

  • The study aimed to understand the genetic influences on tarsal osteochondrosis, a common bone problem in Standardbred horses. An estimated range of 17-29% heritability, based on the pedigree data of European Standardbreds and associated trotting breeds, was the starting point of the research.
  • Using a high-density genotyping method, the genetic makeup of a population of North American Standardbreds (n = 479) firmly identified with tarsal osteochondrosis was profiled.
  • Genome array genotyping data were then converted to approximately 2 million SNPs for further investigation.

Results

  • The SNP-based heritability of osteochondrosis in this horse population was explained by 2326 SNPs.
  • Most of these SNPs (86.6%) had minor effects, indicating the complex nature of the disease, while a smaller percentage had moderate or significant effects (10%, and 2.9%, respectively).
  • Using two different restricted maximum likelihood analysis methods, the heritability was estimated at 0.24 ± 0.16. These estimates were further verified with bootstrapping.

Interpretation and Future Directions

  • These heritability estimates were within the previously reported range, suggesting that osteochondrosis is moderately heritable. However, a significant portion of the disease risk is attributed to environmental factors or interactions between the genotype and environment.
  • Unearthing specific genes or variants that have the highest impact on disease risk may facilitate early detection of high-risk individuals in the future.

Cite This Article

APA
McCoy AM, Norton EM, Kemper AM, Beeson SK, Mickelson JR, McCue ME. (2018). SNP-based heritability and genetic architecture of tarsal osteochondrosis in North American Standardbred horses. Anim Genet, 50(1), 78-81. https://doi.org/10.1111/age.12738

Publication

ISSN: 1365-2052
NlmUniqueID: 8605704
Country: England
Language: English
Volume: 50
Issue: 1
Pages: 78-81

Researcher Affiliations

McCoy, A M
  • Department of Veterinary Clinical Medicine, University of Illinois, 1008 W Hazelwood Dr Urbana, IL, 61802, USA.
Norton, E M
  • Veterinary Population Medicine Department, University of Minnesota, 225 Veterinary Medical Center, 1365 Gortner Avenue, St. Paul, MN, 55108, USA.
Kemper, A M
  • Department of Veterinary Clinical Medicine, University of Illinois, 1008 W Hazelwood Dr Urbana, IL, 61802, USA.
Beeson, S K
  • Veterinary Population Medicine Department, University of Minnesota, 225 Veterinary Medical Center, 1365 Gortner Avenue, St. Paul, MN, 55108, USA.
Mickelson, J R
  • Veterinary Biological Sciences Department, University of Minnesota, 301 Veterinary Science Building, 1971 Commonwealth Avenue, St. Paul, MN, 55108, USA.
McCue, M E
  • Veterinary Population Medicine Department, University of Minnesota, 225 Veterinary Medical Center, 1365 Gortner Avenue, St. Paul, MN, 55108, USA.

MeSH Terms

  • Animals
  • Gene-Environment Interaction
  • Genetic Predisposition to Disease
  • Genotype
  • Horse Diseases / genetics
  • Horses / genetics
  • Interatrial Block
  • Likelihood Functions
  • Models, Genetic
  • North America
  • Osteochondrosis / genetics
  • Osteochondrosis / veterinary
  • Phenotype
  • Polymorphism, Single Nucleotide

Grant Funding

  • F30 OD023369 / NIH HHS
  • D16EQ-311 / Morris Animal Foundation
  • University of Minnesota USDA Formula Funds
  • 2011-03216 / National Institute of Food and Agriculture
  • United States Equestrian Federation
  • Minnestoa Agricultural Experiment Station
  • USDA Hatch Funds University of Illinois

Citations

This article has been cited 4 times.
  1. Zimmermann E, Distl O. SNP-Based Heritability of Osteochondrosis Dissecans in Hanoverian Warmblood Horses.. Animals (Basel) 2023 Apr 25;13(9).
    doi: 10.3390/ani13091462pubmed: 37174498google scholar: lookup
  2. Esdaile E, Avila F, Bellone RR. Analysis of Genetic Diversity in the American Standardbred Horse Utilizing Short Tandem Repeats and Single Nucleotide Polymorphisms.. J Hered 2022 Jul 9;113(3):238-247.
    doi: 10.1093/jhered/esab070pubmed: 34893836google scholar: lookup
  3. Raudsepp T, Finno CJ, Bellone RR, Petersen JL. Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era.. Anim Genet 2019 Dec;50(6):569-597.
    doi: 10.1111/age.12857pubmed: 31568563google scholar: lookup
  4. Kemper AM, Drnevich J, McCue ME, McCoy AM. Differential Gene Expression in Articular Cartilage and Subchondral Bone of Neonatal and Adult Horses.. Genes (Basel) 2019 Sep 25;10(10).
    doi: 10.3390/genes10100745pubmed: 31557843google scholar: lookup