POSTER ABSTRACTS
#43 Identifying genomic regions associated with pigmentary uveitis in Golden Retrievers
N. Bhowmik1 , W.M. Townsend2, C. Mellersh3, S.L. Ricketts3, K.J. Ekenstedt1 nbhowmik@purdue.edu
1Department of Basic Medical Sciences, College of Veterinary Medicine, Purdue University, West Lafayette, IN, USA, 2Department of Veterinary Clinical Sciences, College of Veterinary Medicine, Purdue University, West Lafayette, IN, USA, 3Kennel Club Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge, UK Pigmentary uveitis (PU) is a bilateral ocular condition of Golden Retrievers affecting older dogs (average ~8 years). This progressive disease is characterized by radial pigment on the anterior lens capsule, posterior synechia, and fibrinous material in the anterior eye chamber, usually followed by glaucoma and often leading to blindness. Unfortunately, there is no effective prevention. Since this condition is known to be inherited, identifying risk loci and developing a genetic risk score would allow selective breeding to decrease the disease prevalence; it could also allow intervention before the onset of clinical signs. Therefore, this study aimed to detect genomic regions associated with PU. Dogs from two datasets were genotyped. Dataset 1 (USA) consisted of 63 PU cases and 21 ideal controls (defined as 8 years or older and free of PU), and Dataset 2 (USA + UK) comprised dataset 1 with 47 additional controls (total: 63 cases, 68 controls). After quality control, 390,560 and 83,153 autosomal SNP markers (datasets 1 and 2, respectively) remained for genome-wide association analysis, which was performed using a mixed linear model in GEMMA. Kinship matrix and principal components were used to control relatedness and population structure. Twelve markers (six in each dataset) were significantly associated with PU. Twenty-two genes were identified within a 1Mb flanking region of each significant marker, and three genes (DEK, COL4A1, and MRAP) were asso- ciated with anterior uveitis, anterior segment dysgenesis, and pigmentary glaucoma in humans. Further work is needed to develop a polygenic risk score model for predicting PU.
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