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

DNA Cell Biol. 2019 May;38(5):436-442. doi: 10.1089/dna.2018.4567. Epub 2019 Feb 27.

Abstract

Dilated cardiomyopathy (DCM) is a common type of cardiomyopathy. The pathogenesis of DCM remains unclear and involves varied genes. AXIN1 is a crucial gene in regulating various functions in cells, it encodes protein Axin1, which regulates the assembly and disassembly of β-catenin destruction complex. In addition, Wnt/β-catenin signaling pathway plays an important role in cardiogenesis. We aimed to detect whether AXIN1 polymorphisms contribute to the susceptibility and prognosis of DCM in a Chinese Han population. A total of 340 DCM patients and 430 controls were enrolled, and patients who had complete contact information were followed up for a median period of 49 months. Polymerase chain reaction-restriction fragment length polymorphism was carried out to genotype the two AXIN1 tag single nucleotide polymorphisms (SNPs) (rs12921862 and rs1805105). All data were analyzed using the statistical software package, SPSS 21.0. The frequencies of allele A in rs12921862 and allele C in rs1805015 were increased in DCM patients compared with healthy controls (p < 0.001). Genotypic frequencies of rs12921862 and rs1805105 were associated with the susceptibility of DCM in codominant, dominant, and overdominant models (p < 0.01). AA/AC and AC genotypes of rs12921862 in the dominant and the overdominant genetic models also presented a correlation with poor prognosis of DCM in both univariate (p < 0.01) and multivariate analyses (p < 0.01) after adjusting for age, gender, left ventricular (LV) end-diastolic diameter, and LV ejection fraction. Our results suggest that AXIN1 polymorphisms are associated with the susceptibility and prognosis of DCM in a Chinese Han population.

Keywords: PCR-RFLP; dilated cardiomyopathy; single nucleotide polymorphisms; survival analysis.

MeSH terms

  • Asian People / genetics*
  • Axin Protein / genetics*
  • Cardiomyopathy, Dilated / epidemiology
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / pathology*
  • Case-Control Studies
  • China / epidemiology
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Prognosis

Substances

  • AXIN1 protein, human
  • Axin Protein