1 Department of Cardiology, West China Hospital of Sichuan University, Chengdu, P.R. China.
2 Laboratory of Molecular Translational Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Center of Translational Medicine, Ministry of Education, West China Second University Hospital of Sichuan University, Chengdu, P.R. China.
DNA Cell Biol. 2019 May;38(5):436-442. doi: 10.1089/dna.2018.4567. Epub 2019 Feb 27.
Dilated cardiomyopathy (DCM) is a common type of cardiomyopathy. The pathogenesis of DCM remains unclear and involves varied genes. 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 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 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 ( < 0.001). Genotypic frequencies of rs12921862 and rs1805105 were associated with the susceptibility of DCM in codominant, dominant, and overdominant models ( < 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 ( < 0.01) and multivariate analyses ( < 0.01) after adjusting for age, gender, left ventricular (LV) end-diastolic diameter, and LV ejection fraction. Our results suggest that polymorphisms are associated with the susceptibility and prognosis of DCM in a Chinese Han population.
扩张型心肌病（DCM）是一种常见的心肌病。DCM 的发病机制尚不清楚，涉及多种基因。APC 基因是调节细胞各种功能的关键基因，它编码蛋白 Axin1，调节β-连环蛋白降解复合物的组装和拆卸。此外，Wnt/β-连环蛋白信号通路在心脏发生中起着重要作用。我们旨在检测 APC 基因多态性是否与中国汉族人群 DCM 的易感性和预后相关。共纳入 340 例 DCM 患者和 430 例对照，对有完整联系方式的患者进行中位随访 49 个月。采用聚合酶链反应-限制性片段长度多态性检测两种标签单核苷酸多态性（SNP）（rs12921862 和 rs1805105）的基因型。所有数据均采用统计软件包 SPSS 21.0 进行分析。与健康对照组相比，DCM 患者 rs12921862 的等位基因 A 和 rs1805015 的等位基因 C 的频率增加（ < 0.001）。rs12921862 和 rs1805105 的基因型频率与 DCM 的易感性在共显性、显性和超显性模型中相关（ < 0.01）。在单因素（ < 0.01）和多因素分析（ < 0.01）中，rs12921862 的显性和超显性遗传模型中的 AA/AC 和 AC 基因型也与 DCM 的不良预后相关，调整年龄、性别、左心室（LV）舒张末期直径和 LV 射血分数后。我们的研究结果表明，APC 基因多态性与中国汉族人群 DCM 的易感性和预后相关。
