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Genome-Wide Association Study Leads to a DNA Assay for Dwarfism in the Friesian Horse Population

Wednesday, August 20, 2014
Posters (The Westin Bayshore)
Anouk Schurink , Animal Breeding and Genomics Centre, Wageningen University, Wageningen, Netherlands
Ids Hellinga , Koninklijke Vereniging “Het Friesch Paarden-Stamboek”, Drachten, Netherlands
Peter A.J. Leegwater , Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Utrecht, Netherlands
Wim Back , Department of Surgery and Anaesthesiology of Domestic Animals, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium
John W.M. Bastiaansen , Animal Breeding and Genomics Centre, Wageningen University, Wageningen, Netherlands
Bart J. Ducro , Animal Breeding and Genomics Centre, Wageningen University, Wageningen, Netherlands
Abstract Text: Dwarfism is a well-known developmental genetic disorder that, in horses, predominantly has been reported in the Friesian breed, possibly related to their relatively small gene pool. A GWAS of 50k genotypes from 19 cases and 65 controls, partly paternal half-sibs, confirmed an association with a highly significant region on ECA14 (location: 3.5-6.1Mb). A unique haplotype was found with 2 copies in all cases. Based on genotypes from the 3 most significantly associated SNPs, this haplotype could be identified and used to discriminate cases, carriers and non-carrier horses with high accuracy. A DNA assay was successfully validated on 3 additional cases, 4 relatives of cases and 2 unrelated horses. Out of 23 young stallions presented for inspection in 2014, 5 carriers and 18 non-carrier horses were found. While the dynamics of these haplotypes in the breeding population need to monitored, an effective DNA assay is now available.

Keywords: horse, dwarfism, GWAS.

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