Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
Department of Renal Medicine, University College London, London, UK.
Pediatr Nephrol. 2021 Aug;36(8):2165-2175. doi: 10.1007/s00467-020-04780-4. Epub 2020 Oct 21.
Steroid-sensitive nephrotic syndrome (SSNS) is the most common form of nephrotic syndrome in childhood and there is growing evidence that genetics play a role in the susceptibility for the disease. Familial clustering has been observed and has led to several studies on familial SSNS trying to identify a monogenic cause of the disease. Until now, however, none of these have provided convincing evidence for Mendelian inheritance. This and the phenotypic variability within SSNS suggest a complex inheritance pattern, where multiple variants and interactions between those and the environment play roles in disease development. Genome-wide association studies (GWASs) have been used to investigate this complex disease. We herein highlight new insights in the genetics of the disease provided by GWAS and identify how these insights fit into our understanding of the pathogenesis of SSNS.
激素敏感型肾病综合征（SSNS）是儿童肾病综合征中最常见的形式，越来越多的证据表明遗传在疾病易感性中起作用。已经观察到家族聚集现象，并进行了几项关于家族性 SSNS 的研究，试图确定疾病的单基因原因。然而，到目前为止，这些研究都没有提供孟德尔遗传的令人信服的证据。这一点以及 SSNS 中的表型变异性表明存在复杂的遗传模式，其中多个变体及其与环境之间的相互作用在疾病发展中起作用。全基因组关联研究（GWAS）已被用于研究这种复杂的疾病。本文重点介绍了 GWAS 提供的该疾病遗传学方面的新见解，并确定了这些见解如何融入我们对 SSNS 发病机制的理解。
