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Journal of the American Veterinary Medical Association2009; 234(1); 120-125; doi: 10.2460/javma.234.1.120

Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses.

Abstract: To estimate allele frequencies of the hyperkalaemic periodic paralysis (HYPP), lethal white foal syndrome (LWFS), glycogen branching enzyme deficiency (GBED), hereditary equine regional dermal asthenia (HERDA), and type 1 polysaccharide storage myopathy (PSSM) genes in elite performance subgroups of American Quarter Horses (AQHs). Methods: Prospective genetic survey. Methods: 651 elite performance AQHs, 200 control AQHs, and 180 control American Paint Horses (APHs). Methods: Elite performance AQHs successful in 7 competitive disciplines (barrel racing, cutting, halter, racing, reining, western pleasure, and working cow horse) were geno- typed for 5 disease-causing alleles. Age-matched control AQHs and APHs were used to establish comparative whole-breed estimates of allele frequencies. Results: Highest allele frequencies among control AQHs were for type 1 PSSM (0.055) and GBED (0.054), whereas HERDA (0.021) and HYPP (0.008) were less prevalent. Control APHs uniquely harbored LWFS (0.107) and had high prevalence of HYPP (0.025), relative to AQHs. Halter horse subgroups had significantly greater allele frequencies for HYPP (0.299) and PSSM (0.155). Glycogen branching enzyme deficiency, HERDA, and PSSM were found broadly throughout subgroups; cutting subgroups were distinct for HERDA (0.142), and western pleasure subgroups were distinct for GBED (0.132). Racing and barrel racing subgroups had the lowest frequencies of the 5 disease genes. Conclusions: Accurate estimates of disease-causing alleles in AQHs and APHs may guide use of diagnostic genetic testing, aid management of genetic diseases, and help minimize production of affected foals.
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Publication Date: 2009-01-06 PubMed ID: 19119976DOI: 10.2460/javma.234.1.120Google 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 study aimed to estimate the frequency of alleles, or gene variants, for five inherited diseases among elite performance subgroups of American Quarter Horses (AQHs) and American Paint Horses (APHs). The study found that the frequency of disease-causing alleles varied across different horse breeds and performance subgroups. The findings could guide genetic testing and help manage genetic diseases among these horses.

Overview of Methods

  • The study involved a prospective genetic survey of 651 elite performance AQHs, 200 control AQHs, and 180 control APHs.
  • These horses were genotyped for five disease-causing alleles. These diseases include hyperkalaemic periodic paralysis (HYPP), lethal white foal syndrome (LWFS), glycogen branching enzyme deficiency (GBED), hereditary equine regional dermal asthenia (HERDA), and type 1 polysaccharide storage myopathy (PSSM).
  • The elite performance AQHs were successful in seven competitive disciplines such as barrel racing, cutting, halter, racing, reining, western pleasure, and working cow horse.
  • The control AQHs and APHs were age-matched and used to establish comparative estimates of allele frequencies for the entire breed.

Key Findings

  • The highest allele frequencies in control AQHs were for PSSM and GBED, with frequencies of 0.055 and 0.054, respectively.
  • HERDA and HYPP were less prevalent among control AQHs with frequencies of 0.021 and 0.008 respectively.
  • Comparatively, APHs uniquely harbored LWFS with high prevalence (0.107) and had a higher prevalence of HYPP (0.025) relative to AQHs.
  • Halter horse subgroups had significantly greater allele frequencies for HYPP (0.299) and PSSM (0.155).
  • GBED, HERDA, and PSSM were found across various subgroups. The cutting subgroups had a higher prevalence of HERDA (0.142) whereas western pleasure subgroups had a higher frequency of GBED (0.132).
  • Racing and barrel racing subgroups had the lowest frequencies of the five tested disease genes.

Conclusions

  • The accurate estimates of disease-causing alleles in AQHs and APHs obtained from the study could potentially guide the use of diagnostic genetic testing.
  • This could support the management of genetic diseases in these horse breeds and help to minimize the production of affected foals.

Cite This Article

APA
Tryon RC, Penedo MC, McCue ME, Valberg SJ, Mickelson JR, Famula TR, Wagner ML, Jackson M, Hamilton MJ, Nooteboom S, Bannasch DL. (2009). Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses. J Am Vet Med Assoc, 234(1), 120-125. https://doi.org/10.2460/javma.234.1.120

Publication

Journal of the American Veterinary Medical Association
ISSN: 0003-1488
NlmUniqueID: 7503067
Country: United States
Language: English
Volume: 234
Issue: 1
Pages: 120-125

Researcher Affiliations

Tryon, Robert C
  • Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA 95616, USA.
Penedo, M Cecilia T
    McCue, Molly E
      Valberg, Stephanie J
        Mickelson, James R
          Famula, Thomas R
            Wagner, Michelle L
              Jackson, Mark
                Hamilton, Michael J
                  Nooteboom, Sabine
                    Bannasch, Danika L

                      MeSH Terms

                      • 1,4-alpha-Glucan Branching Enzyme / deficiency
                      • 1,4-alpha-Glucan Branching Enzyme / genetics
                      • Animals
                      • Asthenia / genetics
                      • Asthenia / veterinary
                      • Female
                      • Fetal Death / genetics
                      • Fetal Death / veterinary
                      • Gene Frequency
                      • Genes, Lethal
                      • Genetic Diseases, Inborn / genetics
                      • Genetic Diseases, Inborn / veterinary
                      • Genetic Predisposition to Disease
                      • Genetic Testing
                      • Glycogen Storage Disease Type IV / genetics
                      • Glycogen Storage Disease Type IV / veterinary
                      • Hair Color / genetics
                      • Horse Diseases / genetics
                      • Horses
                      • Male
                      • Paralysis, Hyperkalemic Periodic / genetics
                      • Paralysis, Hyperkalemic Periodic / veterinary
                      • Pedigree
                      • Pregnancy
                      • Prospective Studies
                      • Syndrome

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