Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family.

ABSTRACT:

Background

Multiple sclerosis (MS) is a complex disease resulting from the joint effect of many genes. It has been speculated that rare variants might explain part of the missing heritability of MS.

Objective

To identify rare coding genetic variants by analyzing a large MS pedigree with 11 affected individuals in several generations.

Methods

Genome-wide linkage screen and whole exome sequencing (WES) were performed to identify novel coding variants in the shared region(s) and in the known 110 MS risk loci. The candidate variants were then assessed in 591 MS patients and 3169 controls.

Results

Suggestive evidence for linkage was obtained to 7q11.22-q11.23. In WES data, a rare missense variant p.R183C in FKBP6 was identified that segregated with the disease in th

SUBMITTER: Mescheriakova JY 

PROVIDER: S-EPMC6545620 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature