RESUMO
OBJECTIVE: Sudden acquired retinal degeneration syndrome (SARDS) is one of the leading causes of acute blindness in dogs, with an unknown etiology and no effective treatment. Certain breeds such as Dachshunds are overrepresented among SARDS patients, and therefore, the syndrome is suspected to have a genetic component. The objective of this study was to determine if a genetic locus associated with SARDS in Dachshunds could be identified using a genome-wide association study (GWAS). PROCEDURES: Genome-wide association mapping was performed in 15 SARDS-affected and 16 unaffected Dachshunds. Genotyping of three classical DLA class II genes (DLA-DRB1, DLA-DQA1, and DLA-DQB1) was performed in 34 SARDS-affected and 66 unaffected Dachshunds to evaluate for an association in this region. RESULTS: Although no single nucleotide polymorphisms (SNPs) were of genome-wide statistical significance (PBonferroni < 0.05), 5 of the top 9 SNPs were in the major histocompatibility complex (MHC). Using DLA typing, the allele DLA-DRB1*09401 was identified as a risk factor for the development of SARDS (P = 0.0032, OR = 4.0). The alleles DLA-DQB1*00101 (P = 0.0050, OR = 0.31), DLA-DQA1*00901 (P = 0.0087, OR = 0.33), and a previously identified DLA-DRB1allele described as "DRB1-T" (P = 0.0284, OR = 0.37) were identified as protective factors. CONCLUSIONS: Although far from definitive, association of SARDS with alleles of immunologic importance further supports the hypothesis that autoimmunity may play a role in the pathogenesis of SARDS.
