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Whole-Genome Analysis in Korean Patients with Autoimmune Myasthenia Gravis

Authors
 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 
Citation
 YONSEI MEDICAL JOURNAL, Vol.55(3) : 660-668, 2014 
Journal Title
YONSEI MEDICAL JOURNAL
ISSN
 0513-5796 
Issue Date
2014
MeSH
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 ; Signaling Lymphocytic Activation Molecule Family Member 1
Keywords
CACNA1S ; Myasthenia gravis ; RYR3 ; SLAMF1 ; whole genome-based SNP analysis
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™ 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.
Files in This Item:
T201402347.pdf Download
DOI
10.3349/ymj.2014.55.3.660
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers
Yonsei Authors
Kim, So Won(김소원)
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Park, Hyung Jun(박형준)
Shin, Ha Young(신하영) ORCID logo https://orcid.org/0000-0002-4408-8265
Lee, Ji Hyun(이지현)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/99285
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