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.

中文翻译：

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在全基因组关联研究分析中，澳大利亚牧牛犬的耳聋与 20 号染色体上的 QTL 相关

色素相关性耳聋是一系列犬种常见的遗传性疾病。本研究的目的是进行全基因组关联分析，以研究澳大利亚牧牛犬耳聋的遗传结构。216 只狗的 104 757 个多态性的基因型可用于质量控制后的分析。在混合模型分析中使用基因组关系矩阵来解释多基因效应，因为我们在病例/对照实验设计中测试了每个多态性与耳聋的关联。使用三种方法对基因型进行编码并测试加性、隐性和显性 SNP 效应。全基因组关联研究分析在 CFA20 上确定了一个明确的关联峰，该染色体上最重要的 SNP (1.29 × 10 ^-4) 在MITF附近。MITF 的变异与狗的白色色素沉着以及人类和其他物种的耳聋有关，支持犬耳聋与该基因内或附近的变异有关的假设。鉴于隐性模型中的显着结果，CFA20 峰的隐性遗传是可能的；然而，估计的遗传力很低（4.54 × 10 ^-5）。需要在其他犬种中进一步验证、鉴定变异和测试。