Stromal interaction molecule 1 polymorphisms are associated with coronary artery dilation but not with aneurysm formation in patients with kawasaki disease

Yu-Wen Hsu, Shu-Chen Chien, Chi-Cheng Liang, Kuender D. Yang, Wei Pin Chang, Jen-Ai Lee, Ho-Chang Kuo, Wei-Chiao Chang

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Background: Kawasaki disease (KD) is an autoimmune disease that is associated with systemic vasculitis and other cardiovascular disorders. Recent studies have shown that the calcium sensor, stromal interaction molecule 1 (STIM1), is a key molecule that modulates functioning of the immune system. In this study, the association of STIM1 polymorphisms with KD was investigated. Methods: The Han Chinese in Beijing reference population sample from the haplotype map database was analyzed and four tagging single nucleotide polymorphisms (SNPs; rs2304891, rs3750996, rs1561876, and rs3750994) located in the coding region of the STIM1 gene, with a minor allele frequency of 10% or more, were selected. TaqMan allelic discrimination assay was performed for genotyping 381 patients with KD. Results: By using a recessive model, our data demonstrated that the rs2304891 SNP in the STIM1 gene was significantly associated with coronary artery dilation in KD patients. However, there was no association between the assessed STIM1 SNPs and intravenous immunoglobulin treatment or the incidence of aneurysm. Conclusion: The present results show that a genetic polymorphism in the STIM1 gene (rs2304891) might be associated with coronary artery dilation, but not with resistance to intravenous immunoglobulin treatment or aneurysm formation, in the Taiwanese population.

Original languageEnglish
Pages (from-to)73-76
Number of pages4
JournalJournal of Experimental and Clinical Medicine(Taiwan)
Volume5
Issue number2
DOIs
Publication statusPublished - Apr 2013

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Mucocutaneous Lymph Node Syndrome
Aneurysm
Dilatation
Coronary Vessels
Single Nucleotide Polymorphism
Intravenous Immunoglobulins
Genes
Systemic Vasculitis
Genetic Polymorphisms
Gene Frequency
Haplotypes
Population
Autoimmune Diseases
Stromal Interaction Molecule 1
Immune System
Databases
Calcium
Incidence
Therapeutics

Keywords

  • Coronary artery dilation
  • Kawasaki disease
  • Stromal interaction molecule 1

ASJC Scopus subject areas

  • Medicine(all)

Cite this

@article{e805dd54a82845758773e5676d7e523a,
title = "Stromal interaction molecule 1 polymorphisms are associated with coronary artery dilation but not with aneurysm formation in patients with kawasaki disease",
abstract = "Background: Kawasaki disease (KD) is an autoimmune disease that is associated with systemic vasculitis and other cardiovascular disorders. Recent studies have shown that the calcium sensor, stromal interaction molecule 1 (STIM1), is a key molecule that modulates functioning of the immune system. In this study, the association of STIM1 polymorphisms with KD was investigated. Methods: The Han Chinese in Beijing reference population sample from the haplotype map database was analyzed and four tagging single nucleotide polymorphisms (SNPs; rs2304891, rs3750996, rs1561876, and rs3750994) located in the coding region of the STIM1 gene, with a minor allele frequency of 10{\%} or more, were selected. TaqMan allelic discrimination assay was performed for genotyping 381 patients with KD. Results: By using a recessive model, our data demonstrated that the rs2304891 SNP in the STIM1 gene was significantly associated with coronary artery dilation in KD patients. However, there was no association between the assessed STIM1 SNPs and intravenous immunoglobulin treatment or the incidence of aneurysm. Conclusion: The present results show that a genetic polymorphism in the STIM1 gene (rs2304891) might be associated with coronary artery dilation, but not with resistance to intravenous immunoglobulin treatment or aneurysm formation, in the Taiwanese population.",
keywords = "Coronary artery dilation, Kawasaki disease, Stromal interaction molecule 1",
author = "Yu-Wen Hsu and Shu-Chen Chien and Chi-Cheng Liang and Yang, {Kuender D.} and Chang, {Wei Pin} and Jen-Ai Lee and Ho-Chang Kuo and Wei-Chiao Chang",
year = "2013",
month = "4",
doi = "10.1016/j.jecm.2013.02.004",
language = "English",
volume = "5",
pages = "73--76",
journal = "Journal of Experimental and Clinical Medicine",
issn = "1878-3317",
publisher = "Elsevier Taiwan LLC",
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TY - JOUR

T1 - Stromal interaction molecule 1 polymorphisms are associated with coronary artery dilation but not with aneurysm formation in patients with kawasaki disease

AU - Hsu, Yu-Wen

AU - Chien, Shu-Chen

AU - Liang, Chi-Cheng

AU - Yang, Kuender D.

AU - Chang, Wei Pin

AU - Lee, Jen-Ai

AU - Kuo, Ho-Chang

AU - Chang, Wei-Chiao

PY - 2013/4

Y1 - 2013/4

N2 - Background: Kawasaki disease (KD) is an autoimmune disease that is associated with systemic vasculitis and other cardiovascular disorders. Recent studies have shown that the calcium sensor, stromal interaction molecule 1 (STIM1), is a key molecule that modulates functioning of the immune system. In this study, the association of STIM1 polymorphisms with KD was investigated. Methods: The Han Chinese in Beijing reference population sample from the haplotype map database was analyzed and four tagging single nucleotide polymorphisms (SNPs; rs2304891, rs3750996, rs1561876, and rs3750994) located in the coding region of the STIM1 gene, with a minor allele frequency of 10% or more, were selected. TaqMan allelic discrimination assay was performed for genotyping 381 patients with KD. Results: By using a recessive model, our data demonstrated that the rs2304891 SNP in the STIM1 gene was significantly associated with coronary artery dilation in KD patients. However, there was no association between the assessed STIM1 SNPs and intravenous immunoglobulin treatment or the incidence of aneurysm. Conclusion: The present results show that a genetic polymorphism in the STIM1 gene (rs2304891) might be associated with coronary artery dilation, but not with resistance to intravenous immunoglobulin treatment or aneurysm formation, in the Taiwanese population.

AB - Background: Kawasaki disease (KD) is an autoimmune disease that is associated with systemic vasculitis and other cardiovascular disorders. Recent studies have shown that the calcium sensor, stromal interaction molecule 1 (STIM1), is a key molecule that modulates functioning of the immune system. In this study, the association of STIM1 polymorphisms with KD was investigated. Methods: The Han Chinese in Beijing reference population sample from the haplotype map database was analyzed and four tagging single nucleotide polymorphisms (SNPs; rs2304891, rs3750996, rs1561876, and rs3750994) located in the coding region of the STIM1 gene, with a minor allele frequency of 10% or more, were selected. TaqMan allelic discrimination assay was performed for genotyping 381 patients with KD. Results: By using a recessive model, our data demonstrated that the rs2304891 SNP in the STIM1 gene was significantly associated with coronary artery dilation in KD patients. However, there was no association between the assessed STIM1 SNPs and intravenous immunoglobulin treatment or the incidence of aneurysm. Conclusion: The present results show that a genetic polymorphism in the STIM1 gene (rs2304891) might be associated with coronary artery dilation, but not with resistance to intravenous immunoglobulin treatment or aneurysm formation, in the Taiwanese population.

KW - Coronary artery dilation

KW - Kawasaki disease

KW - Stromal interaction molecule 1

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