Deafness in Australian Cattle Dogs associated to QTL on chromosome 20 in genome-wide association study analyses.

Autor: Seddon JM; School of Veterinary Science, The University of Queensland, Gatton, Qld, 4343, Australia., Fortes M; School of Chemistry and Molecular Biosciences, Queensland Alliance for Agriculture and Food Innovation (QAAFI), The University of Queensland, Brisbane, Qld, 4072, Australia., Kelly-Smith M; Comparative Biomedical Sciences, Louisiana State University, School of Veterinary Medicine, Baton Rouge, LA, 70803, USA., Sommerlad SF; School of Veterinary Science, The University of Queensland, Gatton, Qld, 4343, Australia., Hayward JJ; Biomedical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, NY, 14853, USA., Burmeister L; Animal Health Trust, Newmarket, Suffolk, CB8 7UU, UK., De Risio L; Animal Health Trust, Newmarket, Suffolk, CB8 7UU, UK., Mellersh C; Animal Health Trust, Newmarket, Suffolk, CB8 7UU, UK., Freeman J; Animal Health Trust, Newmarket, Suffolk, CB8 7UU, UK., Strain GM; Comparative Biomedical Sciences, Louisiana State University, School of Veterinary Medicine, Baton Rouge, LA, 70803, USA.
Jazyk: angličtina
Zdroj: Animal genetics [Anim Genet] 2021 Oct; Vol. 52 (5), pp. 694-702. Date of Electronic Publication: 2021 Jul 27.
DOI: 10.1111/age.13115
Abstrakt: Pigment-associated deafness is a common hereditary condition in a range of dog breeds. The aim of this study was to perform a genome-wide association analysis to investigate the genetic architecture of deafness in Australian Cattle Dogs. Genotypes for 104 757 polymorphisms in 216 dogs were available for analyses after quality control. A genomic relationship matrix was used in the mixed model analyses to account for polygenic effects, as we tested each polymorphism for its association with deafness, in a case/control experimental design. Three approaches were used to code the genotypes and test for additive, recessive and dominant SNP effects. The genome-wide association study analyses identified a clear association peak on CFA20, with the most significant SNPs on this chromosome (1.29 × 10 -4 ) in the vicinity of MITF. Variants in MITF have been associated with white pigmentation in dogs and with deafness in humans and other species, supporting the premise that canine deafness is associated with variants in or near this gene. A recessive inheritance for the peak in CFA20 is possible given the significant results in the recessive model; however, the estimated heritability was low (4.54 × 10 -5 ). Further validation, identification of variants and testing in other dog breeds are needed.
(© 2021 Stichting International Foundation for Animal Genetics.)
Databáze: MEDLINE
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