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Discussion on Research: Iding the Genetics Behind OsteochonDrOsis | |
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Moderator: DrO |
Posted on Sunday, Jan 24, 2016 - 1:52 pm: This appears to be the beginning of identifying genetic components that are associated with the risk of OC.DrO BMC Genomics. 2016 Jan 12;17(1):41. Identification and validation of risk loci for osteochonDrOsis in standardbreds. McCoy AM1,2, Beeson SK3, Splan RK4, Lykkjen S5, Ralston SL6, Mickelson JR7, McCue ME8. Author information: 1Veterinary Population Medicine Department, University of Minnesota, 1365 Gortner Ave., St. Paul, MN, USA. 2Department of Veterinary Clinical Medicine, University of Illinois, 1008 Hazelwood Dr., Urbana, IL, USA. 3Veterinary Population Medicine Department, University of Minnesota, 1365 Gortner Ave., St. Paul, MN, USA. 4Department of Animal and Poultry Sciences, Virginia Tech, 3470 Litton Reaves Hall, Blacksburg, VA, USA. 5Faculty of Veterinary Medicine and Biosciences, Norwegian University of Life Sciences, NMBU-School of Veterinary Science, P.O. Box 8146 Dep., Oslo, Norway. 6School of Environmental and Biological Sciences, Rutgers, The State University of New Jersey, 84 Lipman Dr., New Brunswick, NJ, USA. 7Veterinary Biological Sciences Department, University of Minnesota, 1988 Fitch Ave., St. Paul, MN, USA. 8Veterinary Population Medicine Department, University of Minnesota, 1365 Gortner Ave., St. Paul, MN, USA. Abstract BACKGROUND: OsteochonDrOsis (OC), simply defined as a failure of endochondral ossification, is a complex disease with both genetic and environmental risk factors that is commonly diagnosed in young horses, as well as other domestic species. Although up to 50 % of the risk for developing OC is reportedly inherited, specific genes and alleles underlying risk are thus far completely unknown. Regions of the genome identified as associated with OC vary across studies in different populations of horses. In this study, we used a cohort of Standardbred horses from the U.S. (nā=ā182) specifically selected for a shared early environment (to reduce confounding factors) to identify regions of the genome associated with tarsal OC. Subsequently, putative risk variants within these regions were evaluated in both the discovery population and an independently sampled validation population of Norwegian Standardbreds (nā=ā139) with tarsal OC. RESULTS: After genome-wide association analysis of imputed data with information from >200,000 single nucleotide polymorphisms, two regions on equine chromosome 14 were associated with OC in the discovery cohort. Variant discovery in these and 30 additional regions of interest (including 11 from other published studies) was performed via whole-genome sequencing. 240 putative risk variants from 10 chromosomes were subsequently genotyped in both the discovery and validation cohorts. After correction for population structure, gait (trot or pace) and sex, the variants most highly associated with OC status in both populations were located within the chromosome 14 regions of association. CONCLUSIONS: The association of putative risk alleles from within the same regions with disease status in two independent populations of Standardbreds suggest that these are true risk loci in this breed, although population-specific risk factors may still exist. Evaluation of these loci in other populations will help determine if they are specific to the Standardbred breed, or to tarsal OC or are universal risk loci for OC. Further work is needed to identify the specific variants underlying OC risk within these loci. This is the first step towards the long-term goal of constructing a genetic risk model for OC that allows for genetic testing and quantification of risk in individuals. |