Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood

Stephanie Dufek-Kamperis; Robert Kleta; Detlef Bockenhauer; Daniel Gale; Mallory L. Downie

doi:10.1007/s00467-020-04780-4

Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood

Stephanie Dufek-Kamperis^*, Robert Kleta, Detlef Bockenhauer, Daniel Gale, Mallory L. Downie

^*Corresponding author af dette arbejde

Institut for Klinisk Medicin - Børn og Unge

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis › Review › Forskning › peer review

10 Citationer (Scopus)

Abstract

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.

Originalsprog	Engelsk
Tidsskrift	Pediatric Nephrology
Vol/bind	36
Nummer	8
Sider (fra-til)	2165-2175
ISSN	0931-041X
DOI	https://doi.org/10.1007/s00467-020-04780-4
Status	Udgivet - aug. 2021

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title = "Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood",

abstract = "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.",

keywords = "CALHM6, Genetics, GWAS, HLA, Paediatrics, SSNS, Steroid-sensitive nephrotic syndrome",

author = "Stephanie Dufek-Kamperis and Robert Kleta and Detlef Bockenhauer and Daniel Gale and Downie, {Mallory L.}",

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AU - Dufek-Kamperis, Stephanie

AU - Kleta, Robert

AU - Bockenhauer, Detlef

AU - Gale, Daniel

AU - Downie, Mallory L.

PY - 2021/8

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N2 - 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.

AB - 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.

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Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood

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