Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus.

ABSTRACT:

Background

SLE is a systemic autoimmune disease with a large number of common risk gene variants, but several rare gene variants can cause monogenic SLE. The relationship between common and rare variants in SLE is unclear. We therefore investigated the occurrence of rare deleterious variants in patients with childhood-onset SLE (cSLE) and adult-onset SLE (aSLE) and compared the frequency of these variants with their individual SLE polygenic risk score (PRS).

Materials and methods

Targeted sequencing of 1832 gene regions, including coding regions of 31 genes associated with monogenic SLE, was performed in 958 patients with SLE and 1026 healthy individuals. A total of 116 patients with SLE had disease onset before the age of 18 (cSLE). An SLE common variant PRS was created fro

SUBMITTER: Sayadi A 

PROVIDER: S-EPMC11815458 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature