Exome Sequencing Uncovers Genetic Drivers of Multiple Sclerosis in a Multiplex Family.

ABSTRACT: Background: Multiple Sclerosis (MS) is a chronic, autoimmune, multifactorial, and complex disorder of the central nervous system (CNS), affecting more than 2 million individuals globally. Genome-wide association studies (GWAS) have explained only a small fraction of its high heritability, highlighting the need for alternative approaches to identify rare genetic variants that contribute to its etiology. To address this, we performed whole-exome sequencing (WES) in a multi-affected family. Methods: WES was performed in a MS multigenerational family comprising two affected sisters, their two healthy brothers, and one affected son. Results: Bioinformatics analysis identified 47 co-segregating rare variants. Three missense variants in genes involved in inflammation, autoimm

SUBMITTER: Lintas C 

PROVIDER: S-EPMC12652177 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature