Association Between AXIN1 Gene Polymorphisms and Dilated Cardiomyopathy in a Chinese Han Population

Kai Li1, Yue Zhong1, Ying Peng1

  • 11 Department of Cardiology, West China Hospital of Sichuan University, Chengdu, P.R. China.

DNA and Cell Biology
|February 28, 2019
PubMed

Insights

Genetic variations in the AXIN1 gene are linked to dilated cardiomyopathy (DCM) susceptibility and prognosis in the Chinese Han population. Specific AXIN1 polymorphisms are associated with increased DCM risk and poorer outcomes.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Dilated cardiomyopathy (DCM) is a prevalent cardiac condition with unclear pathogenesis, often involving multiple genes.
  • The AXIN1 gene plays a critical role in cellular functions, including the regulation of the Wnt/β-catenin signaling pathway, which is vital for heart development.

Purpose of the Study:

  • To investigate the association between AXIN1 gene polymorphisms and the susceptibility to DCM.
  • To evaluate the impact of AXIN1 polymorphisms on the prognosis of DCM in a Chinese Han population.

Main Methods:

  • Genotyping of two AXIN1 tag single nucleotide polymorphisms (SNPs), rs12921862 and rs1805105, using polymerase chain reaction-restriction fragment length polymorphism.
  • Analysis of 340 DCM patients and 430 controls, with a median follow-up of 49 months for prognosis assessment.
  • Statistical analysis performed using SPSS 21.0, including univariate and multivariate analyses.

Main Results:

  • Increased frequencies of allele A in rs12921862 and allele C in rs1805015 were observed in DCM patients compared to controls (p < 0.001).
  • Genotypic frequencies of both SNPs were significantly associated with DCM susceptibility across various genetic models (p < 0.01).
  • Specific genotypes (AA/AC of rs12921862) were correlated with a poor prognosis in DCM patients (p < 0.01).

Conclusions:

  • AXIN1 gene polymorphisms are significantly associated with an increased susceptibility to dilated cardiomyopathy in the Chinese Han population.
  • Specific AXIN1 polymorphisms are identified as potential predictive markers for poor prognosis in DCM patients.

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