• Sang-Jun Na, Ji Hyun Lee, So Won Kim, Dae-Seong Kim, Eun Hee Shon, Hyung Jun Park, Ha Young Shin, Seung Min Kim, and Young-Chul Choi.
• Department of Neurology, Konyang University College of Medicine, Daejeon, Korea.
• Yonsei Med. J. 2014 May 1; 55 (3): 660668660-8.

PurposeThe underlying cause of myasthenia gravis (MG) is unknown, although it likely involves a genetic component. However, no common genetic variants have been unequivocally linked to autoimmune MG. We sought to identify the genetic variants associated with an increased or decreased risk of developing MG in samples from a Korean Multicenter MG Cohort.Materials And MethodsTo determine new genetic targets related to autoimmune MG, a whole genome-based single nucleotide polymorphisms (SNP) analysis was conducted using an Axiom™ Genome-Wide ASI 1 Array, comprising 598375 SNPs and samples from 109 MG patients and 150 neurologically normal controls.ResultsIn total, 641 SNPs from five case-control associations showed p-values of less than 10⁻⁵. From regional analysis, we selected seven candidate genes (RYR3, CACNA1S, SLAMF1, SOX5, FHOD3, GABRB1, and SACS) for further analysis.ConclusionThe present study suggests that a few genetic polymorphisms, such as in RYR3, CACNA1S, and SLAMF1, might be related to autoimmune MG. Our findings also encourage further studies, particularly confirmatory studies with larger samples, to validate and analyze the association between these SNPs and autoimmune MG.

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