Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.

ABSTRACT: Myasthenia gravis (MG) is a rare autoantibody-mediated disease affecting the neuromuscular junction. We performed a genome-wide association study of 5708 MG cases and 432,028 controls of European ancestry and a replication study in 3989 cases and 226,643 controls provided by 23andMe Inc. We identified 12 independent genome-wide significant hits (P < 5e^-8) across 11 loci. Subgroup analyses revealed two of these were associated with early-onset (at age <50) and four with late-onset MG (at age ≥ 50). Imputation of human leukocyte antigen alleles revealed inverse effect sizes for late- and early-onset, suggesting a potential modulatory influence on the time of disease manifestation. We assessed the performance of polygenic risk scores for MG, which significantly predicted disease st

SUBMITTER: Braun A 

PROVIDER: S-EPMC11560923 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature