PRESENTATION ABSTRACTS
es between sexes. We undertook a genome-wide association study to identify genetic contributors to CIM using 59 GSD cases and 53 controls and detected a single region of association on chromo- some 12 (P-val = 3.12x10-13). Lead SNPs were located upstream or within Melanin-Concentrating Hormone Receptor 2 (MCHR2), which plays a role in appetite, weight, and gut motility. We identified a 33 bp variable number tandem repeat in the first intron of MCHR2. An allele containing a single copy of the repeat is strongly associated with CIM (P-val = 1.32x10-17), while two copies comprise the major allele across dogs and wolves. The repeat contains a consensus binding sequence for the T-box family of transcription factors, and the number of motifs may correlate with MCHR2 expres- sion, leading to an imbalance of melanin-concentrating hormone in CIM. #9 Investigating the genetics of diabetes mellitus in the domestic cat Jessica J. Hayward 1 , John P. Loftus 2 , Jeff A. Brockman 3 , Denise F. Paul 4 , Lara Mouttham 4 , Leslie A. Lyons 5 , Rory J. Todhunter 2 jessica.hayward@cornell.edu 1 Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, Ithaca NY, USA 2 Department of Clinical Sciences, College of Veterinary Medicine, Cornell University, Ithaca NY, USA 3 Hill’s Pet Nutrition, Inc., Topeka KS, USA 4 Cornell Veterinary Biobank, College of Veterinary Medicine, Cornell University, Ithaca NY, USA 5 Department of Veterinary Medicine and Surgery, College of Veteri- nary Medicine, University of Missouri, Columbia MO, USA Diabetes mellitus (DM) is one of the most common feline diseases seen by veterinarians in the USA. It is caused by the loss or dysfunction of insulin secretion by pancreatic beta cells, diminished insulin sensitivity, or both. The disease requires careful management, including daily insulin injections, and the costs of veterinary care and lifestyle changes can significantly impact cat owners. Very little is known about the genetics that contribute to the risk of this complex disease. Here, we describe the identification of a significant association for feline DM using a genome-wide association study (GWAS) performed on cats genotyped on a custom 340k single nucleotide poly- morphism (SNP) Illumina array. We included 67 diabetic cats and 376 older, unaffected cats, and identified a significant association on feline chromosome D4 (P=1.88x10-7). The region within linkage disequilibrium of this association includes many olfactory receptor genes, as well as the gene prostaglandin synthase G/H isoform 1 (PTGS1), which has been associated with DM in humans. We are continuing feline DM research, with the opportunity to genotype 960 cats on a denser Affymetrix array containing 2 million SNPs. This represents the densest and largest genome-wide search for loci associated with DM in the domestic cat. This research will enable cats with an increased genetic predisposition for DM to be identified, allowing earlier diagnosis and permitting intervention and monitoring before irreversible disease occurs. Further, cat breeders can use the genetic test to make informed breeding decisions to reduce the frequency of the disease in the population.
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