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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.
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.
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.
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