ICCFGG program 2022

POSTER ABSTRACTS

The current study analyzed genotypes of 183 Australian CKCS at the identified risk loci. The dogs were phenotyped for echocardiographic heart measurements of left atrium to aortic root ratio (LA:Ao) and weight normalised left ventricular end diastolic diameter (LVIDdN). The Australian CKCS cohort included multiple dogs exhibiting protective/wild-type alleles at the risk variant locations. Genotyping array markers correctly predicted the risk-variant alleles in the Australian CKCS population, and the NEBL1, NEBL2 and NEBL3 variants were observed to be in strong LD in this cohort. Statistical analysis identified that the heart metrics of the dogs heterozygous at NEBL1-3 variants had LA:Ao and LVIDdN scores within the normal canine ranges. As a group, the heterozygous CKCS had significantly lower variance for scores for LA:Ao and LVIDdN than CKCS that were homozygous for risk alleles. In general, higher scores for LA:Ao and LVIDdN are associat- ed with reduced survival times. The lower cardiac measurements in the heterozygote dogs indicate significantly reduced risk of severe MMVD disease. Our analysis suggests that low-risk alleles at NEBL1-3 exist in the CKCS breed and can be used to reduce MMVD risk. #11 The Anstee Hub for Inherited Diseases of Animals (AHIDA) – development of a new online platform for surveillance, reporting and control of inherited diseases in animals in Australia C. Wade2,4, I. Tammen1,4, B. Waud1,4, M. Gimeno1,4, B.D. Velie2,4, B. O’Rourke3,4, and F.W. Nicholas1,4 claire.wade@sydney.edu.au 1Sydney School of Veterinary Science, Faculty of Science, The University of Sydney, Sydney, NSW, 2006, Australia, 2School of Life and Environmental Sciences, Faculty of Science, The University of Sydney, Sydney, NSW, 2006, Australia, 3Elizabeth Macarthur Agricultural Institute, Department of Primary Industries, Menangle, NSW, 2568, Australia, 4Anstee Hub for Inherited Diseases Even rare inherited diseases can have considerable impacts on breeding operations. While the quantum of published data surrounding inherited conditions in animals is steadily increasing, there remains limited information on the frequency of inherited disorder occurrences. Often, animal owners and veterinarians are unaware of how to report emerging genetic conditions, where to find available information about existing conditions, or how to connect with researchers who would be interested to investigate such conditions. We propose to address this problem in Australia by the provision of a curated portal for the reporting of potential inherited disorders by owners or veter- inarians. The Anstee Hub for Inherited Diseases in Animals (AHIDA) is being designed to fill this need. We will describe the initial planning of a new centralized resource for surveillance, reporting, and control of inherited diseases of animals in Australia. The portal supports all animals, including companion animals such as dogs and cats as well as livestock and wildlife.

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