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英国澳大利亚牛犬先天性感觉神经性耳聋:患病率及与表型的关联。

Congenital sensorineural deafness in Australian Cattle dogs in the UK: Prevalence and association with phenotype.

机构信息

Southfields Veterinary Specialists, Laindon, Essex, UK.

Davies Veterinary Specialists, Hitchen, Hertfordshire, UK.

出版信息

Vet J. 2021 Aug;274:105711. doi: 10.1016/j.tvjl.2021.105711. Epub 2021 Jun 25.

DOI:10.1016/j.tvjl.2021.105711
PMID:34182072
Abstract

The Australian Cattle dog (ACD) is one of many breeds predisposed to congenital sensorineural deafness (CSD). The objective of this study was to estimate CSD prevalence and investigate any association with phenotype in the ACD in the UK. The database of the authors' institution was searched for ACD puppies undergoing brainstem auditory evoked response (BAER) testing for CSD screening (1999-2019). Inclusion criteria were BAER performed at 4-10 weeks of age, testing of complete litters and available phenotypic data. The age, sex, coat and iris colour, presence and location of face and body patches, hearing status and BAER- determined parental hearing status of each puppy were recorded. A multivariable mixed-effects logistic regression model was used to calculate odds ratios and 95% confidence intervals to determine whether any of these variables were significantly associated with CSD, while adjusting for clustering at litter level. Inclusion criteria were met for 524 puppies. Hearing was bilaterally normal in 464 puppies (88.6%). The prevalence of unilateral and bilateral CSD was 9.7% and 1.7%, respectively. On the basis of multivariable analysis, the presence of a pigmented face patch was the only phenotypic variable significantly associated with CSD, and was linked to a reduced risk of the condition. The prevalence was similar to that reported in an Australian population of ACDs. The key findings from this study were that overall CSD prevalence in the ACD population in the UK was 11.4%, and puppies with a face patch were at reduced risk of the condition.

摘要

澳大利亚牧羊犬(ACD)是易患先天性感觉神经性耳聋(CSD)的众多品种之一。本研究的目的是估计英国 ACD 中 CSD 的流行率,并研究其与表型的任何关联。作者所在机构的数据库被搜索用于 CSD 筛查的 ACD 幼犬脑干听觉诱发反应(BAER)测试(1999-2019 年)。纳入标准为 4-10 周龄进行 BAER 测试、对完整窝进行测试和具有可用表型数据。记录每只幼犬的年龄、性别、被毛和虹膜颜色、面部和身体斑块的存在和位置、听力状况以及 BAER 确定的父母听力状况。使用多变量混合效应逻辑回归模型计算优势比和 95%置信区间,以确定这些变量中是否有任何一个与 CSD 显著相关,同时调整窝水平的聚类。符合纳入标准的有 524 只幼犬。464 只幼犬的听力双侧正常(88.6%)。单侧和双侧 CSD 的患病率分别为 9.7%和 1.7%。基于多变量分析,有色面部斑块的存在是唯一与 CSD 显著相关的表型变量,与降低患病风险有关。患病率与澳大利亚 ACD 人群中的报告相似。本研究的主要发现是,英国 ACD 人群中 CSD 的总体患病率为 11.4%,具有面部斑块的幼犬患病风险降低。

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De-novo and genome-wide meta-analyses identify a risk haplotype for congenital sensorineural deafness in Dalmatian dogs.从头分析和全基因组荟萃分析确定了斑点狗先天性感觉神经性耳聋的风险单倍型。
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