Ann Neurol-Early onset vs. late onset myasthenia gravis, what is the difference in genomics?

Myasthenia gravis is an autoimmune immune disease, clinical manifestations of muscle weakness and fatigability

Early-onset (EO) and late-onset (LO) myasthenia gravis have obvious epidemiological and pathological features

The recent genome-wide association study ( GWAS ) found some genetic risk sites for myasthenia gravis, providing a glimpse into the underlying disease mechanism

Recently, Lahiru Handunnetthi and others of the University of Oxford developed Priority Index, a genomics method that combines cell-type-specific functional genomic information, such as gene expression and chromatin organization, with the findings of GWAS to determine disease-related Gene

It was also found that the regulator of toll-like receptor 4 signaling was only enriched in early-onset disease genes (fold enrichment = 3.

Two causal genetic variants were found near the CTLA4 gene (rs231770 and rs231735; posterior probability = 0.

The practical significance of this research is that the disease-related genes discovered in this research are unique resources in many disciplines, including clinicians, scientists, and the pharmaceutical industry