Yonsei Med J.  2014 May;55(3):660-668. 10.3349/ymj.2014.55.3.660.

Whole-Genome Analysis in Korean Patients with Autoimmune Myasthenia Gravis

• Na SJ
• Lee JH
• Kim SW
• Kim DS
• Shon EH
• Park HJ
• Shin HY
• Kim SM
• Choi YC

• KMID: 2068675
• DOI: http://doi.org/10.3349/ymj.2014.55.3.660

Abstract

PURPOSE
The 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 METHODS
To determine new genetic targets related to autoimmune MG, a whole genome-based single nucleotide polymorphisms (SNP) analysis was conducted using an Axiom(TM) Genome-Wide ASI 1 Array, comprising 598375 SNPs and samples from 109 MG patients and 150 neurologically normal controls.
RESULTS
In 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.
CONCLUSION
The 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.

Keyword

Myasthenia gravis; whole genome-based SNP analysis; RYR3; CACNA1S; SLAMF1

MeSH Terms

Antigens, CD/genetics
Asian Continental Ancestry Group/genetics
Calcium Channels/genetics
Female
Genetic Predisposition to Disease/genetics
Genotype
Humans
Male
Myasthenia Gravis/*etiology
Polymorphism, Single Nucleotide/genetics
Receptors, Cell Surface/genetics
Ryanodine Receptor Calcium Release Channel/genetics
Antigens, CD
Calcium Channels
Receptors, Cell Surface
Ryanodine Receptor Calcium Release Channel

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