VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis.

ABSTRACT:

Objective

To identify novel genetic loci that predispose to early-onset myasthenia gravis (EOMG) applying a two-stage association study, exploration, and replication strategy.

Methods

Thirty-four loci and one confirmation loci, human leukocyte antigen (HLA)-DRA, were selected as candidate genes by team members of groups involved in different research aspects of MG. In the exploration step, these candidate genes were genotyped in 384 EOMG and 384 matched controls and significant difference in allele frequency were found in eight genes. In the replication step, eight candidate genes and one confirmation loci were genotyped in 1177 EOMG patients and 814 controls, from nine European centres.

Results

ALLELE FREQUENCY DIFFERENCES WERE FOUND IN FOUR NOVEL LOCI: CD86, AKAP12,

SUBMITTER: Avidan N 

PROVIDER: S-EPMC4184684 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature