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Whole-Genome Analysis in Korean Patients with Autoimmune Myasthenia Gravis

 Sang-Jun Na  ;  Ji Hyun Lee  ;  So Won Kim  ;  Dae-Seong Kim  ;  Eun Hee Shon  ;  Hyung Jun Park  ;  Ha Young Shin  ;  Seung Min Kim  ;  Young-Chul Choi 
 Yonsei Medical Journal, Vol.55(3) : 660-668, 2014 
Journal Title
 Yonsei Medical Journal 
Issue Date
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™ 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.
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1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers
Yonsei Authors
김소원(Kim, So Won)
김승민(Kim, Seung Min) ORCID logo https://orcid.org/0000-0002-4384-9640
박형준(Park, Hyung Jun)
신하영(Shin, Ha Young) ORCID logo https://orcid.org/0000-0002-4408-8265
이지현(Lee, Ji Hyun)
최영철(Choi, Young Chul) ORCID logo https://orcid.org/0000-0001-5525-6861
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