Heitmann M, Hamann H, Brahm R, Grussendorf H, Rosenhagen C U, Distl O
Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany.
Vet Ophthalmol. 2005 May-Jun;8(3):145-51. doi: 10.1111/j.1463-5224.2005.00339.x.
We analyzed the prevalence of the presumed inherited eye diseases (PIED) noncongenital cataract and progressive retinal atrophy in the Entlebucher Mountain Dog for systematic environmental influences and the additive genetic variation. Multivariate linear animal models using residual maximum likelihood methods and multivariate threshold animal models using Gibbs sampling in Bayesian analyses were used to estimate variance and covariance components. Data were obtained from the kennel club for Swiss Mountain Dog breeds in Germany. PIED were recorded using the standardized protocols of the Dortmunder Kreis, the German panel of the European Eye Scheme for Diagnosis of Inherited Eye Diseases in Animals (DOK). The material included 515 Entlebucher Mountain Dogs from 344 litters at 77 different kennels. Veterinary diagnoses for PIED were from the years 1981-2001. Pedigree information was available for up to nine generations. The multivariate animal model regarded the fixed effects of sex, birth year, experience of the veterinary ophthalmologist, litter size, percentage of examined dogs per litter, inbreeding coefficient and age at examination. The common environment of the litter and the additive genetic effect of the animal were taken into account as randomly distributed effects. The heritability estimates for PIED in the Entlebucher Mountain Dog were h2=0.15+/-0.06 (noncongenital cataract), and h2=0.34+/-0.08 (progressive retinal atrophy) in the linear model and h2=0.32+/-0.05 (noncongenital cataract) and h2=0.59+/-0.03 (progessive retinal atrophy) in the threshold model. The additive genetic correlation between noncongenital cataract and progressive retinal atrophy was moderately positive (r(g)=0.54+/-0.08) in the threshold model. The number of examinations performed by the veterinary ophthalmologists was associated with slightly higher heritabilities for noncongenital cataract and considerably higher heritabilities for progressive retinal atrophy. The investigated PIED in the Entlebucher Mountain Dog are genetically influenced and the size of the genetic parameters estimated may be sensitive to the accuracy of the diagnosis and how the data were collected.
我们分析了恩特雷布赫山地犬中假定的遗传性眼病（PIED）——非先天性白内障和进行性视网膜萎缩的患病率，以研究系统环境影响和加性遗传变异。使用残差最大似然法的多变量线性动物模型以及贝叶斯分析中使用吉布斯采样的多变量阈值动物模型来估计方差和协方差分量。数据来自德国瑞士山地犬品种的犬舍俱乐部。PIED使用多特蒙德 Kreis 的标准化方案进行记录，该方案是欧洲动物遗传性眼病诊断眼图德国小组（DOK）的方案。材料包括来自77个不同犬舍344窝的515只恩特雷布赫山地犬。PIED的兽医诊断时间为1981年至2001年。系谱信息可追溯到九代。多变量动物模型考虑了性别、出生年份、兽医眼科医生的经验、窝仔数、每窝检查犬的百分比、近亲繁殖系数和检查时的年龄等固定效应。窝的共同环境和动物的加性遗传效应被视为随机分布效应。在恩特雷布赫山地犬中，PIED的遗传力估计值在线性模型中为h2 = 0.15±0.06（非先天性白内障），h2 = 0.34±0.08（进行性视网膜萎缩）；在阈值模型中为h2 = 0.32±0.05（非先天性白内障）和h2 = 0.59±0.03（进行性视网膜萎缩）。在阈值模型中，非先天性白内障和进行性视网膜萎缩之间的加性遗传相关性为中度正相关（r(g)=0.54±0.08）。兽医眼科医生进行的检查次数与非先天性白内障略高的遗传力以及进行性视网膜萎缩显著更高的遗传力相关。在恩特雷布赫山地犬中研究的PIED受遗传影响，估计的遗传参数大小可能对诊断准确性和数据收集方式敏感。
