Jepson R E, Warren H R, Syme H M, Elliott J, Munroe P B
Department of Clinical Sciences and Services, Royal Veterinary College, Nr Hatfield, Herts, AL9 7TA.
Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ.
J Small Anim Pract. 2016 Nov;57(11):580-588. doi: 10.1111/jsap.12582. Epub 2016 Oct 4.
In humans, genome-wide association studies have identified variants in the uromodulin gene (UMOD) associated with blood pressure and renal function. This study aimed to evaluate the association of single nucleotide polymorphisms at the UMOD locus with renal function and blood pressure in cats.
We retrospectively identified cats aged 14 years that had participated in a geriatric monitoring program, and from which stored DNA samples were available, from a computerised database. We then measured the association of specific single nucleotide polymorphisms in the feline UMOD gene with renal function and systolic blood pressure as continuous variables and, also, the dichotomous outcome of azotaemic chronic kidney disease and systemic hypertension.
Eight intronic single nucleotide polymorphisms, one 1372 base pairs upstream from UMOD and two exonic single nucleotide polymorphisms were evaluated in 227 cats with renal and blood pressure data. An analysis of 188 cats found four single nucleotide polymorphisms to be significantly associated (P<0·01) with systolic blood pressure although all were in linkage disequilibrium. No significant associations were identified between single nucleotide polymorphisms and renal function or chronic kidney disease.
Results of this pilot study suggest that genetic variation in UMOD might influence blood pressure in cats, similar to findings in humans. Validation of these results is required.
在人类中，全基因组关联研究已确定尿调节蛋白基因（UMOD）中的变异与血压和肾功能相关。本研究旨在评估UMOD基因座处的单核苷酸多态性与猫的肾功能和血压之间的关联。
我们从一个计算机化数据库中回顾性地识别出参与老年监测项目且有可用储存DNA样本的14岁猫。然后，我们测量了猫UMOD基因中特定单核苷酸多态性与作为连续变量的肾功能和收缩压之间的关联，以及氮质血症性慢性肾病和系统性高血压的二分结局。
在227只具有肾脏和血压数据的猫中评估了8个内含子单核苷酸多态性、1个位于UMOD上游1372个碱基对处的单核苷酸多态性和2个外显子单核苷酸多态性。对188只猫的分析发现，有4个单核苷酸多态性与收缩压显著相关（P<0·01），尽管它们都处于连锁不平衡状态。未发现单核苷酸多态性与肾功能或慢性肾病之间存在显著关联。
这项初步研究的结果表明，UMOD基因的遗传变异可能会影响猫的血压，这与人类的研究结果相似。需要对这些结果进行验证。
