Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families.

ABSTRACT: Multiple sclerosis (MS) is characterized as an immune-mediated central nervous system disease marked by chronic inflammation, demyelination, and progressive neurodegeneration. In this study, we evaluated the contribution of low-frequency and rare genetic variants to MS susceptibility within one of the largest family-based MS cohorts to date, comprising 215 individuals from 59 Turkish multiplex MS families. Whole exome sequencing was conducted on all samples including affected and unaffected members, followed by investigation of the effect of well-established human leukocyte antigen loci for MS on the elevated MS risk observed in our families. Subsequently, a gene-based burden analysis was performed on candidate genes identified through both our segregation analysis and existing literature.

SUBMITTER: Buyukgol F 

PROVIDER: S-EPMC11972333 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature