Jeanes Emily C, Oliver James A C, Ricketts Sally L, Gould David J, Mellersh Cathryn S
1Centre for Small Animal Studies, Animal Health Trust, Lanwades Park, Kentford, Newmarket, CB8 7UU UK.
2Canine Genetics Research Group, Kennel Club Genetics Centre, Animal Health Trust, Lanwades Park, Kentford, Newmarket, CB8 7UU UK.
Canine Genet Epidemiol. 2019 May 17;6:5. doi: 10.1186/s40575-019-0071-6. eCollection 2019.
In humans, mutations are known to cause Weill-Marchesani-like syndrome, which is characterised by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Breed-specific homozygous mutations in are associated with primary open angle glaucoma (POAG) in several dog breeds, including the Petit Basset Griffon Vendeen (PBGV) and Shar Pei (SP). We hypothesised that these mutations are associated with short stature in these breeds.
Two hundred thirty-three PBGV and 66 SP were genotyped for their breed-specific mutations. The height of each dog was measured at the withers. We used linear (per allele) regression to assess the association between mutations and height as a continuous variable, and linear regression and likelihood ratio tests to assess the shape of the association by comparing a general model with a linear (per allele) model.
The adjusted mean heights of affected, carrier, and clear PBGV were 33.49 cm ( = 21, 95% CI 32.78-34.19 cm), 34.88 cm ( = 85, 95% CI 34.53-35.25 cm), and 34.92 cm ( = 121, 95% CI 34.62-35.21 cm), respectively. The mean heights of affected, carrier, and clear SP were 43.96 cm ( = 9, 95% CI 41.88-46.03 cm), 47.56 cm ( = 28, 95% CI 45.50-48.63 cm), and 48.95 cm ( = 23, 95% CI 47.80-50.11 cm), respectively. There was a significant difference between the height of affected and clear animals in the PBGV ( = 0.001) and the SP ( = < 0.0001).
POAG mutations are significantly associated with height in these breeds.
在人类中，已知突变会导致类似Weill-Marchesani综合征，其特征为晶状体性近视、晶状体异位、青光眼、球形晶状体和身材矮小。特定品种的纯合突变与几种犬种的原发性开角型青光眼（POAG）相关，包括小猎兔犬（PBGV）和沙皮犬（SP）。我们假设这些突变与这些犬种的身材矮小有关。
对233只PBGV和66只SP进行特定品种突变的基因分型。测量每只狗的肩高。我们使用线性（每个等位基因）回归来评估突变与作为连续变量的身高之间的关联，并使用线性回归和似然比检验，通过将一般模型与线性（每个等位基因）模型进行比较来评估关联的形状。
受影响、携带突变和未携带突变的PBGV的调整后平均身高分别为33.49厘米（n = 21，95%可信区间32.78 - 34.19厘米）、34.88厘米（n = 85，95%可信区间34.53 - 35.25厘米）和34.92厘米（n = 121，95%可信区间34.62 - 35.21厘米）。受影响、携带突变和未携带突变的SP的平均身高分别为43.96厘米（n = 9，95%可信区间41.88 - 46.03厘米）、47.56厘米（n = 28，95%可信区间45.50 - 48.63厘米）和48.95厘米（n = 23，95%可信区间47.80 - 50.11厘米）。PBGV（P = 0.001）和SP（P = < 0.0001）中受影响和未携带突变动物的身高存在显著差异。
POAG突变与这些犬种的身高显著相关。
