Genome-wide discovery of multiple sclerosis genetic risk variant allelic regulatory activity.

ABSTRACT: Multiple sclerosis is an immune-mediated demyelinating disease of the central nervous system with a complex etiology involving environmental and genetic factors. Numerous genetic risk loci for multiple sclerosis have been nominated through genome-wide association studies, with most associated variants residing in noncoding regions. However, further work is needed to understand how genetic variation contributes to disease-related alterations to gene expression. Here, we use Massively Parallel Reporter Assays to identify genetic risk variants with genotype-dependent enhancing or silencing activity within a set of 14,275 variants distributed among multiple sclerosis risk loci that have reached genome-wide or suggestive significance. We applied our Massively Parallel Reporter Assay library to

SUBMITTER: Granitto M 

PROVIDER: S-EPMC12608076 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature