Fealey Mark J, Li Joy, Todhunter Rebel J E, Krotscheck Ursula, Hayashi Kei, McConkey Marina J, Boyko Adam R, Hayward Jessica J, Todhunter Rory J
Department of Clinical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853 USA.
Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853 USA.
Canine Genet Epidemiol. 2017 Mar 24;4:4. doi: 10.1186/s40575-017-0043-7. eCollection 2017.
Concentrated breeding effort to produce various body structures and behaviors of dogs to suit human demand has inadvertently produced unwanted traits and diseases that accompany the morphological and behavioral phenotypes. We explored the relationship between pelvic conformation and canine hip dysplasia (HD) because purebred dogs which are predisposed, or not, to HD share common morphologic features, respectively. Thirteen unique bilateral anatomical features of the pelvis were measured on 392 dogs of 51 breeds and 95 mixed breed dogs. Principal components (PCs) were derived to describe pelvic morphology. Dogs were genotyped at ~183,000 single nucleotide polymorphisms and their hip conformation was measured by the Norberg angle and angle of inclination between the femoral neck and diaphysis.
No associations reached genome wide significance for the Norberg angle when averaged over both hips. PC1 was negatively correlated with the Norberg angle ( = -0.31; < 0.05) but not the angle of inclination ( = -0.08; > 0.05). PC1, 2, 4, and 5 differed significantly between male and female dogs confirming pelvic sexual dimorphism. With sex as a covariate, the eigenvector contribution to PC1 reflected the overall size of the pelvis and was significantly associated with the locus, a known contributor to canine body size. PC3, which represented a tradeoff between ilial length and ischial length in which a longer ischium is associated with a shorter ilium, was significantly associated with a marker on canine chromosome 16:5181388 bp. The closest candidate gene is , a thiamine-dependent enzyme and part of the complex. Associations with the remaining PCs did not reach genome wide significance.
was associated with the overall size of the pelvis and sex is related to pelvic size. Ilial/ischial proportion is genetically controlled and the closest candidate gene is thiamine-dependent and affects birth weight and development of the nervous system. Dogs with larger pelves tend to have smaller NAs consistent with increased tendency toward HD in large breed dogs. Based on the current study, pelvic shape alone was not strongly associated with canine hip dysplasia.
为满足人类需求而进行的集中繁殖努力，旨在培育出具有各种身体结构和行为特征的犬类，但无意间产生了一些不良特征和疾病，这些特征和疾病伴随着犬类的形态和行为表型。我们探究了骨盆形态与犬髋关节发育不良（HD）之间的关系，因为易患或不易患HD的纯种犬分别具有共同的形态学特征。我们对51个品种的392只犬和95只混种犬的骨盆13个独特的双侧解剖特征进行了测量。通过主成分分析（PC）来描述骨盆形态。对犬进行了约183,000个单核苷酸多态性的基因分型，并通过诺伯格角和股骨颈与骨干之间的倾斜角来测量它们的髋关节形态。
当对两侧髋关节的诺伯格角进行平均时，没有发现与全基因组显著相关的关联。主成分1（PC1）与诺伯格角呈负相关（r = -0.31；P < 0.05），但与倾斜角无相关性（r = -0.08；P > 0.05）。PC1、2、4和5在雄性和雌性犬之间存在显著差异，证实了骨盆的两性异形。以性别作为协变量，PC1的特征向量贡献反映了骨盆的整体大小，并且与一个已知影响犬身体大小的基因座显著相关。PC3代表了髂骨长度和坐骨长度之间的权衡，其中坐骨较长与髂骨较短相关，它与犬染色体16上5181388 bp处的一个标记显著相关。最接近的候选基因是一种硫胺素依赖性酶，是复合体的一部分。与其余主成分的关联未达到全基因组显著水平。
与骨盆的整体大小相关，性别与骨盆大小有关。髂骨/坐骨比例受遗传控制，最接近的候选基因是硫胺素依赖性的，影响出生体重和神经系统发育。骨盆较大的犬往往诺伯格角较小，这与大型犬患HD的倾向增加一致。基于当前研究，仅骨盆形状与犬髋关节发育不良的关联并不强烈。
