Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course.

ABSTRACT:

Background

It remains unclear whether disease course in multiple sclerosis (MS) is influenced by genetic polymorphisms. Here, we aimed to identify genetic variants associated with benign and aggressive disease courses in MS patients.

Methods

MS patients were classified into benign and aggressive phenotypes according to clinical criteria. We performed exome sequencing in a discovery cohort, which included 20 MS patients, 10 with benign and 10 with aggressive disease course, and genotyping in 2 independent validation cohorts. The first validation cohort encompassed 194 MS patients, 107 with benign and 87 with aggressive phenotypes. The second validation cohort comprised 257 patients, of whom 224 patients had benign phenotypes and 33 aggressive disease courses. Brain immunohist

SUBMITTER: Gil-Varea E 

PROVIDER: S-EPMC6138928 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature