Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.

ABSTRACT:

Objective

The objective of this study is to comprehensively define the genetic basis of early onset myasthenia gravis (EOMG).

Methods

We have carried out a 2-stage genome-wide association study on a total of 649 North European EOMG patients. Cases were matched 1:4 with controls of European ancestry. We performed imputation and conditional analyses across the major histocompatibility complex, as well as in the top regions of association outside the human leukocyte antigen (HLA) region.

Results

We observed the strongest association in the HLA class I region at rs7750641 (p = 1.2 × 10(-92) ; odds ratio [OR], 6.25). By imputation and conditional analyses, HLA-B*08 proves to be the major associated allele (p = 2.87 × 10(-113) ; OR, 6.41). In addition to the expected associ

SUBMITTER: Gregersen PK 

PROVIDER: S-EPMC3535539 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature