Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.

ABSTRACT: Myasthenia gravis is a chronic autoimmune disease characterized by autoantibody-mediated interference of signal transmission across the neuromuscular junction. We performed a genome-wide association study (GWAS) involving 1,873 patients diagnosed with acetylcholine receptor antibody-positive myasthenia gravis and 36,370 healthy individuals to identify disease-associated genetic risk loci. Replication of the discovered loci was attempted in an independent cohort from the UK Biobank. We also performed a transcriptome-wide association study (TWAS) using expression data from skeletal muscle, whole blood, and tibial nerve to test the effects of disease-associated polymorphisms on gene expression. We discovered two signals in the genes encoding acetylcholine receptor subunits that are the most c

SUBMITTER: Chia R 

PROVIDER: S-EPMC8812681 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature