Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome.

ABSTRACT:

Background

Idiop athic nephrotic syndrome (INS) is classified in children according to response to initial corticosteroid therapy into steroid-sensitive (SSNS) and steroid-resistant nephrotic syndrome (SRNS), and in adults according to histology into minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS). However, there is well-recognised phenotypic overlap between these entities. Genome-wide association studies (GWAS) have shown a strong association between SSNS and variation at HLA, suggesting an underlying immunological basis. We sought to determine whether a risk score generated from genetic variants associated with SSNS could be used to gain insight into the pathophysiology of INS presenting in other ways.

Methods

We developed an SSNS genetic risk sc

SUBMITTER: Downie ML 

PROVIDER: S-EPMC10154254 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature