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在中国,腺苷脱氨酶基因多态性与慢性心力衰竭风险相关。

The adenosine deaminase gene polymorphism is associated with chronic heart failure risk in Chinese.

作者信息

He Hai-Rong, Li Yuan-Jie, He Gong-Hao, Wang Ya-Jun, Zhai Ya-Jing, Xie Jiao, Zhang Wei-Peng, Dong Ya-Lin, Lu Jun

机构信息

Department of Pharmacy, the First Affiliated Hospital of Medical College, Xi'an Jiaotong University, Xi'an 710061, China.

Department of Human Anatomy, Histology and Embryology, Medical College, Xi'an Jiaotong University, Xi'an 710061, China.

出版信息

Int J Mol Sci. 2014 Aug 28;15(9):15259-71. doi: 10.3390/ijms150915259.

Abstract

Adenosine (Ado) is an important cardioprotective agent. Since endogenous Ado levels are affected by the enzyme Ado deaminase (ADA), polymorphisms within the ADA gene may exert some effect on chronic heart failure (CHF). This study applied a case-control investigation to 300 northern Chinese Han CHF patients and 400 ethnicity-matched healthy controls in which nine single-nucleotide polymorphisms (SNPs) of ADA were genotyped and association analyses were performed. Odds ratios (ORs) with 95% confidence intervals (CI) were used to assess the association. Overall, rs452159 polymorphism in ADA gene was significantly associated with susceptibility to CHF under the dominant model (p = 0.013, OR = 1.537, 95% CI = 1.10-2.16), after adjustment for age, sex, and traditional cardiovascular risk factors. No difference in genotype distribution and allele frequency for the rs452159 according to the functional New York Heart Association class was found. Furthermore, the values of left ventricular ejection fraction, left-ventricle end-diastolic diameter or left-ventricle end-systolic diameter did not differ significantly among the different rs452159 genotype CHF patients. Although further studies with larger cohorts and other ethnicities are required to validate the conclusions, the findings of this study potentially provide novel insight into the pathogenesis of CHF.

摘要

腺苷(Ado)是一种重要的心脏保护剂。由于内源性腺苷水平受腺苷脱氨酶(ADA)影响,ADA基因内的多态性可能对慢性心力衰竭(CHF)产生一定影响。本研究对300名中国北方汉族CHF患者和400名种族匹配的健康对照进行了病例对照研究,对ADA的9个单核苷酸多态性(SNP)进行基因分型并进行关联分析。采用比值比(OR)及95%置信区间(CI)评估关联性。总体而言,在调整年龄、性别和传统心血管危险因素后,ADA基因中的rs452159多态性在显性模型下与CHF易感性显著相关(p = 0.013,OR = 1.537,95%CI = 1.10 - 2.16)。根据纽约心脏协会功能分级,rs452159的基因型分布和等位基因频率无差异。此外,不同rs452159基因型的CHF患者左心室射血分数、左心室舒张末期直径或左心室收缩末期直径的值无显著差异。尽管需要进一步开展更大样本量和其他种族的研究来验证这些结论,但本研究结果可能为CHF的发病机制提供新的见解。

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