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Polymorphisms of CD247 gene is associated with dilated cardiomyopathy in Chinese Han population

Chunmei Li1, XiaoChuan Xie1, Kun Li2

  • 1Department of Cardiology, West China Hospital of Sichuan University, 37 Guo Xue Xiang, Chengdu, 610041, China.

BMC Cardiovascular Disorders
|September 11, 2024
PubMed

Insights

Polymorphisms in the CD247 gene are linked to dilated cardiomyopathy (DCM) risk in the Chinese Han population. Specifically, rs858543 is associated with DCM and influences patient survival, with decreased CD247 mRNA levels observed in DCM patients.

Area of Science:

  • Genetics
  • Cardiology
  • Immunology

Background:

  • Dilated cardiomyopathy (DCM) is a leading cause of heart failure and necessitates heart transplantation.
  • Emerging evidence suggests a potential role for autoimmune responses in myocardial cells in DCM pathogenesis.
  • The CD247 gene has been implicated in autoimmune diseases, prompting investigation into its role in DCM.

Purpose of the Study:

  • To investigate the association between CD247 gene polymorphisms and the risk of developing DCM.
  • To determine if specific single nucleotide polymorphisms (SNPs) in the CD247 gene are linked to DCM susceptibility in the Chinese Han population.
  • To evaluate the impact of CD247 gene variations on overall survival in DCM patients.

Main Methods:

  • Genotyping of two CD247 gene SNPs (rs12141731 and rs858543) using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
  • Study included 355 DCM patients and 404 age- and sex-matched controls from the Chinese Han population.
  • Statistical analyses included Pearson's chi-squared test, haplotype analysis, and Cox multivariate survival analysis.

Main Results:

  • SNP rs858543 in the CD247 gene was significantly associated with DCM risk (p=0.001, OR=0.72).
  • The CC haplotype correlated with increased DCM susceptibility, while the CT haplotype showed a protective effect.
  • The rs858543 TT genotype was an independent predictor of longer overall survival in DCM patients (HR=0.608, p=0.019).
  • CD247 mRNA expression levels were significantly lower in DCM patients compared to controls (p=0.02).

Conclusions:

  • Polymorphisms in the CD247 gene, particularly rs858543, represent a potential risk factor for DCM in the Chinese Han population.
  • The findings suggest a link between CD247 gene variations, DCM susceptibility, and patient prognosis.
  • Further research is warranted to elucidate the precise mechanisms by which CD247 influences DCM pathogenesis.
Abstract

Keywords:
CD247Dilated cardiomyopathyGenetic polymorphisms

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