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Interleukin-23 receptor gene polymorphisms is associated with dilated cardiomyopathy in Chinese Han population

Y Chen1, B Zhou, Y Peng

  • 1Department of Cardiology, West China Hospital of Sichuan University, Chengdu, China.

Tissue Antigens
|March 26, 2009
PubMed

Insights

Interleukin-23 receptor (IL-23R) gene variations may influence the risk of developing dilated cardiomyopathy (DCM). Specifically, the IL-23R SNP rs10889677 is associated with DCM susceptibility in the Chinese Han population.

Area of Science:

  • Cardiovascular Genetics
  • Immunogenetics
  • Autoimmune Disease Research

Background:

  • Idiopathic dilated cardiomyopathy (DCM) involves ventricular enlargement and dysfunction, with uncertain pathogenesis.
  • Emerging evidence suggests autoimmune mechanisms contribute to DCM development.
  • Interleukin-23 receptor (IL-23R) gene polymorphisms are linked to various autoimmune diseases.

Purpose of the Study:

  • To investigate the association between IL-23R gene polymorphisms and DCM.
  • To evaluate the role of specific single nucleotide polymorphisms (SNPs) in DCM susceptibility.

Main Methods:

  • Genotyping of three IL-23R SNPs (rs1884444, rs11465817, rs10889677) using polymerase chain reaction-restriction fragment length polymorphism.
  • Study included 176 DCM patients and 216 healthy controls from the Chinese Han population.

Main Results:

  • SNP rs10889677 in the IL-23R gene showed a significant association with DCM.
  • No significant association was found for IL-23R SNPs rs1884444 and rs11465817 with DCM.
  • The findings indicate a specific role for rs10889677 in DCM pathogenesis within this population.

Conclusions:

  • IL-23R gene polymorphisms, particularly rs10889677, are implicated in the susceptibility to idiopathic dilated cardiomyopathy.
  • These genetic variations may contribute to the autoimmune component of DCM in the Chinese Han population.

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