Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease.

ABSTRACT:

Objective

Lupus nephritis (LN) is a common and severe manifestation of SLE. The genetic risk for nephritis and progression to end-stage renal disease (ESRD) in patients with LN remains unclear. Herein, we aimed to identify novel genetic associations with LN, focusing on subphenotypes and ESRD.

Methods

We analysed genomic data on 958 patients with SLE (discovery cohort: LN=338) with targeted sequencing data from 1832 immunological pathway genes. We used an independent multiethnic cohort comprising 1226 patients with SLE (LN=603) as a replication dataset. Detailed functional annotation and functional epigenomic enrichment analyses were applied to predict functional effects of the candidate variants.

Results

A genetic variant (rs56097910) within the MERTK gene was

SUBMITTER: Yavuz S 

PROVIDER: S-EPMC9639142 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature