Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2025 Jan 7:11:1508422.
doi: 10.3389/fmed.2024.1508422. eCollection 2024.

Advances in the genetics of myasthenia gravis: insights from cutting-edge neuroscience research

Zheng Yixian #  1 , Wang Hai #  2 , Liu Xiuying  3 , Yan Jichun  4
Affiliations
Review

Advances in the genetics of myasthenia gravis: insights from cutting-edge neuroscience research

Zheng Yixian et al. Front Med (Lausanne). .

Abstract

Myasthenia gravis (MG) is an autoimmune disorder involving complex interactions between genetic and environmental factors. Genome-wide association studies (GWAS), transcriptome-wide association studies (TWAS), and other methods have identified multiple novel susceptibility loci and genes, providing crucial insights into the genetic etiology of MG. Moreover, the pivotal roles of epigenetic mechanisms, such as DNA methylation, histone modifications, and non-coding RNAs, in the pathogenesis of MG are gradually being unveiled. This review comprehensively summarizes the latest advances in MG genetic research, focusing on the discovery and validation of susceptibility genes, genetic heterogeneity and subtype-specific genetic factors, gene-environment interactions, epigenetic mechanisms, and progress in genetics-based diagnostic and prognostic biomarkers.

Keywords: epigenetic mechanisms; genetic susceptibility; genome-wide association study; myasthenia gravis; transcriptome-wide association study.

PubMed Disclaimer

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Pathogenic mechanism of thymoma-associated myasthenia gravis.
Figure 2
Figure 2
Protein interaction network related to myasthenia gravis.
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. Bubuioc A, Kudebayeva A, Turuspekova S, et al. . The epidemiology of myasthenia gravis. J Med Life. (2021) 14:7–16. doi: 10.25122/jml-2020-0145, PMID: - DOI - PMC - PubMed
    1. Gilhus NE. Myasthenia gravis and congenital myasthenic syndromes. Handb Clin Neurol. (2023) 195:635–52. doi: 10.1016/B978-0-323-98818-6.00010-8, PMID: - DOI - PubMed
    1. Tannemaat MR, Huijbers MG, Verschuuren J. Myasthenia gravis-pathophysiology, diagnosis, and treatment. Handb Clin Neurol. (2024) 200:283–305. doi: 10.1016/B978-0-12-823912-4.00026-8, PMID: - DOI - PubMed
    1. Deymeer F. Myasthenia gravis: MuSK MG, late-onset MG and ocular MG. Acta Myol. (2020) 39:345–52. doi: 10.36185/2532-1900-038, PMID: - DOI - PMC - PubMed
    1. Punga AR, Maddison P, Heckmann JM, Guptill JT, Evoli A. Epidemiology, diagnostics, and biomarkers of autoimmune neuromuscular junction disorders. Lancet Neurol. (2022) 21:176–88. doi: 10.1016/S1474-4422(21)00297-0, PMID: - DOI - PubMed

LinkOut - more resources