Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene.

ABSTRACT:

Objective

To identify rare variants contributing to multiple sclerosis (MS) susceptibility in a family we have previously reported with up to 15 individuals affected across 4 generations.

Methods

We performed exome sequencing in a subset of affected individuals to identify novel variants contributing to MS risk within this unique family. The candidate variant was genotyped in a validation cohort of 2,104 MS trio families.

Results

Four family members with MS were sequenced and 21,583 variants were found to be shared among these individuals. Refining the variants to those with 1) a predicted loss of function and 2) present within regions of modest haplotype sharing identified 1 novel mutation (rs55762744) in the tyrosine kinase 2 (TYK2) gene. A different polymorphism wi

SUBMITTER: Dyment DA 

PROVIDER: S-EPMC3405256 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature