Genetic risk variants for multiple sclerosis are linked to differences in alternative pre-mRNA splicing.

ABSTRACT:

Background

Multiple sclerosis (MS) is a chronic immune-mediated disease of the central nervous system to which a genetic predisposition contributes. Over 200 genetic regions have been associated with increased disease risk, but the disease-causing variants and their functional impact at the molecular level are mostly poorly defined. We hypothesized that single-nucleotide polymorphisms (SNPs) have an impact on pre-mRNA splicing in MS.

Methods

Our study focused on 10 bioinformatically prioritized SNP-gene pairs, in which the SNP has a high potential to alter alternative splicing events (ASEs). We tested for differential gene expression and differential alternative splicing in B cells from MS patients and healthy controls. We further examined the impact of the SNP genotypes on

SUBMITTER: Putscher E 

PROVIDER: S-EPMC9670805 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature