Genetische Risikovarianten für chronische Nierenerkrankungen in einer prospektiven Studie von 5.217 Patienten (A05)

在这个项目中，我们将研究膜性肾病(MN)和局灶节段性肾小球硬化(FSGS)作为慢性肾脏疾病(CKD)的模式疾病的遗传倾向。在一项对5,217名CKD患者进行的大型前瞻性研究中，MN、FSGS和全原因CKD的遗传风险变异将通过与1000万个常见SNPs和25万个罕见干扰变异的全基因组关联研究来绘制。验证的风险变量将被研究相互作用，它们与不同的CKD病因的关系，以及它们对CKD进展和并发症的影响。该项目将对全因慢性肾脏病的遗传结构，特别是对其肾小球成分的研究提供新的见解。

In this project we will examine the genetic disposition to membranous nephropathy (MN) and focal-segmental glomerulosclerosis (FSGS) as model diseases for chronic kidney disease (CKD). Genetic risk variants for MN, FSGS and all-cause CKD will be mapped using genome-wide association studies with >10 million common SNPs and 250,000 rare disruptive variants in a large prospective study of 5,217 CKD patients. Validated risk variants will be investigated for interactions, their relation to different CKD etiologies, and their effect on the CKD progression and complications. This project will contribute novel insights into the genetic architecture of all-cause CKD and specifically into its glomerular components.