Simpson Siobhan, Dunning Mark D, Brownlie Serena, Patel Janika, Godden Megan, Cobb Malcolm, Mongan Nigel P, Rutland Catrin S
Faculty of Medicine and Health Sciences, School of Veterinary Medicine and Science, The University of Nottingham, Sutton Bonington Campus, Loughborough LE12 5RD, UK.
Faculty of Medicine and Health Sciences, School of Veterinary Medicine and Science, The University of Nottingham, Sutton Bonington Campus, Loughborough LE12 5RD, UK; Department of Pharmacology, Weill Cornell Medical College, 1300 York Avenue, New York, NY 10065, USA.
Biomed Res Int. 2016;2016:6374082. doi: 10.1155/2016/6374082. Epub 2016 Dec 13.
Cardiac disease is a leading cause of morbidity and mortality in dogs and humans, with dilated cardiomyopathy being a large contributor to this. The Irish Wolfhound (IWH) is one of the most commonly affected breeds and one of the few breeds with genetic loci associated with the disease. Mutations in more than 50 genes are associated with human dilated cardiomyopathy (DCM), yet very few are also associated with canine DCM. Furthermore, none of the identified canine loci explain many cases of the disease and previous work has indicated that genotypes at multiple loci may act together to influence disease development. In this study, loci previously associated with DCM in IWH were tested for associations in a new cohort both individually and in combination. We have identified loci significantly associated with the disease individually, but no genotypes individually or in pairs conferred a significantly greater risk of developing DCM than the population risk. However combining three loci together did result in the identification of a genotype which conferred a greater risk of disease than the overall population risk. This study suggests multiple rather than individual genetic factors, cooperating to influence DCM risk in IWH.
心脏病是犬类和人类发病和死亡的主要原因,扩张型心肌病是其中的一个重要因素。爱尔兰猎狼犬(IWH)是受影响最普遍的品种之一,也是少数几个有与该疾病相关的基因位点的品种之一。超过50个基因的突变与人类扩张型心肌病(DCM)相关,但与犬类DCM相关的却很少。此外,已确定的犬类基因位点都不能解释该疾病的许多病例,先前的研究表明多个基因位点的基因型可能共同作用影响疾病发展。在本研究中,对先前在IWH中与DCM相关的基因位点在一个新的队列中进行了单独和组合的关联性测试。我们已经分别鉴定出与该疾病显著相关的基因位点,但没有单个或成对的基因型比群体风险赋予更高的患DCM风险。然而,将三个基因位点组合在一起确实鉴定出一种基因型,其赋予的疾病风险高于总体群体风险。这项研究表明是多个而非单个遗传因素共同作用影响IWH患DCM的风险。