Myasthenia gravis genome-wide association study implicates AGRN as a risk locus

Discussion
Our gene-based analysis identifies AGRN as a novel MG susceptibility gene, implicating for the first time a locus encoding a protein (agrin) that is directly relevant to NMJ activation. Mutations in AGRN have been found to underlie congenital myasthenic syndrome. Our results are also consistent with previous studies highlighting the role of HLA and TNFRSF11A in MG aetiology and the different risk genes in EOMG versus LOMG. Finally, we uncover the genetic correlation of MG with T1D, RA, ATD and late-onset vitiligo, pointing to shared underlying genetic mechanisms.

Source: Journal of Medical Genetics - July 21, 2022 Category: Genetics & Stem Cells Authors: Topaloudi, A., Zagoriti, Z., Flint, A. C., Martinez, M. B., Yang, Z., Tsetsos, F., Christou, Y.-P., Lagoumintzis, G., Yannaki, E., Zamba-Papanicolaou, E., Tzartos, J., Tsekmekidou, X., Kotsa, K., Maltezos, E., Papanas, N., Papazoglou, D., Passadakis, P., Tags: Genome-wide studies Source Type: research