What question did this study set out to answer?

The aim is to identify genetic loci associated with susceptibility to steroid-sensitive nephrotic syndrome (SSNS) in children.

February 25, 2026Open Access

Novel immune-related susceptibility loci associated with pediatric steroid-sensitive nephrotic syndrome identified by a transethnic genome-wide association study

Key Points

The aim is to identify genetic loci associated with susceptibility to steroid-sensitive nephrotic syndrome (SSNS) in children.
Conducted a transethnic genome-wide association study (GWAS)
Examined immune-related genetic loci
Analyzed the association with disease onset using polygenic risk scores (PRS)
Identified two new immune-related loci linked to SSNS: M6PR and ORMDL3
Confirmed PRS is associated with an earlier onset of SSNS
Expanded understanding of genetic factors contributing to SSNS

Abstract

We identified two novel immune-related loci associated with susceptibility to SSNS, nominating M6PR and ORMDL3 as potential contributors to SSNS risk in a cell-type-specific manner, and confirmed the association of PRS with earlier disease onset. These findings expand our knowledge of the genetic architecture of SSNS and highlight the importance of large-scale collaborations in uncovering genetic associations related to SSNS.

Novel immune-related susceptibility loci associated with pediatric steroid-sensitive nephrotic syndrome identified by a transethnic genome-wide association study

Key Points

Abstract

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