Title Association Between AXIN1 Gene Polymorphisms and Dilated Cardiomyopathy in a Chinese Han Population
Authors Li, Kai
Zhong, Yue
Peng, Ying
Zhou, Bin
Wang, Yanyun
Li, Qin
Zhang, Yan
Song, Huizi
Rao, Li
Affiliation Sichuan Univ, West China Hosp, Dept Cardiol, 37 Guo Xue Xiang, Chengdu 610041, Sichuan, Peoples R China
Sichuan Univ, West China Univ Hosp 2, Lab Mol Translat Med,Ctr Translat Med,Minist Educ, Key Lab Birth Defects & Related Dis Women & Child, Chengdu, Sichuan, Peoples R China
Sichuan Univ, Dept Immunol, West China Sch Preclin & Forens Med, Chengdu, Sichuan, Peoples R China
Sichuan Univ, West China Univ Hosp 2, Dept Pathol, Chengdu, Sichuan, Peoples R China
Peking Univ, Dept Crit Care Med, Hosp 3, Beijing, Peoples R China
Keywords single nucleotide polymorphisms
AXIN1
dilated cardiomyopathy
PCR-RFLP
survival analysis
Issue Date 2019
Publisher DNA AND CELL BIOLOGY
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 beta-catenin destruction complex. In addition, Wnt/beta-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.
URI http://hdl.handle.net/20.500.11897/548460
ISSN 1044-5498
DOI 10.1089/dna.2018.4567
Indexed SCI(E)
Appears in Collections: 第三医院

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