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ARS Home » Plains Area » Clay Center, Nebraska » U.S. Meat Animal Research Center » Animal Health Genomics » Research » Publications at this Location » Publication #359110
Research Project: Genomic Intervention Strategies to Prevent and/or Treat Respiratory Diseases of Ruminants

Location: Animal Health Genomics

Title: Evaluation of EPAS1 variants for association with bovine congestive heart failure

Author
item Heaton, Michael - Mike
item BASSETT, ADAM - University Of Nebraska
item WHITMAN, KATHY - University Of Nebraska
item KRAFSUR, GRETA - University Of Colorado
item LEE, SANG - University Of Nebraska
item CARLSON, JADEN - University Of Nebraska
item CLARK, HALDEN - Sutton Veterinary Clinic
item SMITH, HELEN - University Of Nebraska
item PELSTER, MADELINE - University Of Nebraska
item BASNAYAKE, VERONICA - Geneseek Inc, A Neogen Company
item GROTELUESCHEN, DALE - University Of Nebraska
item VANDER LEY, BRIAN - University Of Nebraska

Submitted to: Annual International Plant & Animal Genome Conference
Publication Type: Abstract Only
Publication Acceptance Date: 11/29/2018
Publication Date: 1/2/2019
Citation: Heaton, M.P., Bassett, A.S., Whitman, K.J., Krafsur, G.M., Lee, S.I., Carlson, J.M., Clark, H.J., Smith, H.R., Pelster, M.C., Basnayake, V., Grotelueschen, D.M., Vander Ley, B.L. 2019. Evaluation of EPAS1 variants for association with bovine congestive heart failure [abstract]. International Plant & Animal Genome XXVII Conference, January 12-16, 2019, San Diego, California. Abstract PO0365. Available: https://plan.core-apps.com/pag_2019/abstracts

Interpretive Summary:

Technical Abstract: Outbreaks of bovine congestive heart failure (BCHF) have become increasingly prevalent in fattened cattle at moderate altitudes (1200 m) in the Western Great Plains of the United States and Canada. BCHF is an untreatable, fatal, complex condition involving pulmonary hypertension (PH) that culminates in right ventricular failure. A linked T606/S610 amino acid variant encoded by the endothelial PAS domain-containing protein 1 gene (EPAS1) was previously associated with PH at altitudes exceeding 2000 m and provides a potential target for selective breeding. Our aim was to evaluate EPAS1 haplotypes encoding amino acid variants for association with BCHF in cattle raised at moderate altitudes. Samples from 102 clinical BCHF cases, and their clinically normal penmate controls, were collected at four feedlots. Each case-control pair was matched for source, breed type, sex, arrival date, and management conditions. Genotypes from 36 possible EPAS1 haplotype combinations were evaluated for their association with BCHF. The frequency of the ancestral haplotype (A606/G610) was equivalent in the case and control groups (0.67), while the frequencies of the T606/S610 variant were 0.21 and 0.25, respectively. McNemar’s test analysis of 45 discordant pairs having at least one copy of the T606/S610 variant showed it was not associated with BCHF (OR = 0.73, p-value = 0.37, CI95 0.38 -1.4). Frequencies of three other EPAS1 haplotypes encoding amino acid variants (Q270, L362, and G671) were each less than 0.05 overall. Thus, protein variants encoded by EPAS1 do not appear to be associated with BCHF in fattened cattle at moderate altitudes.