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

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)660-668
Number of pages9
JournalYonsei medical journal
Volume55
Issue number3
DOIs
Publication statusPublished - 2014 May

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Myasthenia Gravis
Genome
Single Nucleotide Polymorphism
Ryanodine Receptor Calcium Release Channel
Genetic Polymorphisms
Genes

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Na, Sang Jun ; Lee, Ji Hyun ; Kim, So Won ; Kim, Dae Seong ; Shon, Eun Hee ; Park, Hyung Jun ; Shin, Ha Young ; Kim, Seung Min ; Choi, Young Chul. / Whole-genome analysis in Korean patients with autoimmune myasthenia gravis. In: Yonsei medical journal. 2014 ; Vol. 55, No. 3. pp. 660-668.
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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.",
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Na, SJ, Lee, JH, Kim, SW, Kim, DS, Shon, EH, Park, HJ, Shin, HY, Kim, SM & Choi, YC 2014, 'Whole-genome analysis in Korean patients with autoimmune myasthenia gravis', Yonsei medical journal, vol. 55, no. 3, pp. 660-668. https://doi.org/10.3349/ymj.2014.55.3.660

Whole-genome analysis in Korean patients with autoimmune myasthenia gravis. / Na, Sang Jun; Lee, Ji Hyun; Kim, So Won; Kim, Dae Seong; Shon, Eun Hee; Park, Hyung Jun; Shin, Ha Young; Kim, Seung Min; Choi, Young Chul.

In: Yonsei medical journal, Vol. 55, No. 3, 05.2014, p. 660-668.

Research output: Contribution to journalArticle

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T1 - Whole-genome analysis in Korean patients with autoimmune myasthenia gravis

AU - Na, Sang Jun

AU - Lee, Ji Hyun

AU - Kim, So Won

AU - Kim, Dae Seong

AU - Shon, Eun Hee

AU - Park, Hyung Jun

AU - Shin, Ha Young

AU - Kim, Seung Min

AU - Choi, Young Chul

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Y1 - 2014/5

N2 - 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.

AB - 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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