Diabetes Complications Research Centre, Conway Institute of Biomolecular and Biomedical Research, School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland.
Mater Misericordiae Hospital, Dublin, Ireland.
Genes (Basel). 2013 Nov 5;4(4):596-619. doi: 10.3390/genes4040596.
Up to 40% of patients with type 1 and type 2 diabetes will develop diabetic nephropathy (DN), resulting in chronic kidney disease and potential organ failure. There is evidence for a heritable genetic susceptibility to DN, but despite intensive research efforts the causative genes remain elusive. Recently, genome-wide association studies have discovered several novel genetic variants associated with DN. The identification of such variants may potentially allow for early identification of at risk patients. Here we review the current understanding of the key molecular mechanisms and genetic architecture of DN, and discuss the merits of employing an integrative approach to incorporate datasets from multiple sources (genetics, transcriptomics, epigenetic, proteomic) in order to fully elucidate the genetic elements contributing to this serious complication of diabetes.
高达 40%的 1 型和 2 型糖尿病患者将发展为糖尿病肾病 (DN)，导致慢性肾病和潜在的器官衰竭。有证据表明 DN 存在遗传易感性，但尽管进行了深入的研究，致病基因仍难以确定。最近，全基因组关联研究发现了几个与 DN 相关的新的遗传变异。这些变异的鉴定可能有助于早期识别高危患者。在这里，我们回顾了对 DN 的关键分子机制和遗传结构的现有认识，并讨论了采用综合方法整合来自多个来源（遗传学、转录组学、表观遗传学、蛋白质组学）的数据集的优点，以充分阐明导致这种严重糖尿病并发症的遗传因素。
