Rare and low-frequency coding genetic variants contribute to pediatric-onset multiple sclerosis.

ABSTRACT:

Background

Rare genetic variants are emerging as important contributors to the heritability of multiple sclerosis (MS). Whether rare variants also contribute to pediatric-onset multiple sclerosis (POMS) is unknown.

Objective

To test whether genes harboring rare variants associated with adult-onset MS risk (PRF1, PRKRA, NLRP8, and HDAC7) and 52 major histocompatibility complex (MHC) genes are associated with POMS.

Methods

We analyzed DNA samples from 330 POMS cases and 306 controls from the US Network of Pediatric MS Centers and Kaiser Permanente Northern California for which Illumina ExomeChip genotypes were available. Using the gene-based method "SKAT-O," we tested the association between candidate genes and POMS risk.

Results

After correction fo

SUBMITTER: Horton MK 

PROVIDER: S-EPMC10149552 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature