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

Robert C. Tryon, Cecilia Penedo, Molly E. McCue, Stephanie J. Valberg, James R. Mickelson, Thomas R. Famula, Michelle L. Wagner, Mark Jackson, Michael J. Hamilton, Sabine Nooteboom, Danika L Bannasch

Research output: Contribution to journalArticle

63 Citations (Scopus)

Abstract

Objective - 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). Design - Prospective genetic survey. Animals - 651 elite performance AQHs, 200 control AQHs, and 180 control American Paint Horses (APHs). Procedures - Elite performance AQHs successful in 7 competitive disciplines (barrel racing, cutting, halter, racing, reining, western pleasure, and working cow horse) were genotyped 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 and Clinical Relevance - 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.

Original languageEnglish (US)
Pages (from-to)120-125
Number of pages6
JournalJournal of the American Veterinary Medical Association
Volume234
Issue number1
DOIs
StatePublished - Jan 1 2009

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Quarter Horse
Gene Frequency
Horses
gene frequency
Paint (horse breed)
horses
enzyme deficiencies
1,4-alpha-glucan branching enzyme
muscular diseases
Genes
paralysis
genes
Glycogen Storage Disease Type IV
polysaccharides
halters
foals
Asthenia
Paint
Muscular Diseases
Paralysis

ASJC Scopus subject areas

  • veterinary(all)

Cite this

Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses. / Tryon, Robert C.; Penedo, Cecilia; 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.

In: Journal of the American Veterinary Medical Association, Vol. 234, No. 1, 01.01.2009, p. 120-125.

Research output: Contribution to journalArticle

Tryon, RC, Penedo, C, 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', Journal of the American Veterinary Medical Association, vol. 234, no. 1, pp. 120-125. https://doi.org/10.2460/javma.234.1.120
Tryon, Robert C. ; Penedo, Cecilia ; 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. / Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses. In: Journal of the American Veterinary Medical Association. 2009 ; Vol. 234, No. 1. pp. 120-125.
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abstract = "Objective - 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). Design - Prospective genetic survey. Animals - 651 elite performance AQHs, 200 control AQHs, and 180 control American Paint Horses (APHs). Procedures - Elite performance AQHs successful in 7 competitive disciplines (barrel racing, cutting, halter, racing, reining, western pleasure, and working cow horse) were genotyped 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 and Clinical Relevance - 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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AU - Mickelson, James R.

AU - Famula, Thomas R.

AU - Wagner, Michelle L.

AU - Jackson, Mark

AU - Hamilton, Michael J.

AU - Nooteboom, Sabine

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