ErbB4基因多态性与中国北方汉族人群充血性心力衰竭的风险及预后相关。
ErbB4 Gene Polymorphism Is Associated With the Risk and Prognosis of Congestive Heart Failure in a Northern Han Chinese Population.
作者信息
Wang Yunhong, Zhang Yuhui, An Tao, Zhang Rongcheng, Zhao Xuemei, Liu Nini, Yin Shijie, Gan Tianyi, Liang Tuo, Huang Yan, Zhou Qiong, Zhang Jian
机构信息
State Key Laboratory of Cardiovascular Disease, Heart Failure Center Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China.
State Key Laboratory of Cardiovascular Disease, Heart Failure Center Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China.
出版信息
J Card Fail. 2016 Sep;22(9):700-9. doi: 10.1016/j.cardfail.2016.01.013. Epub 2016 Feb 1.
BACKGROUND
There has been no research evaluating the association between human Neuregulin (NRG) 1/ErbB2/ErbB4 gene polymorphisms and heart failure risk.
METHODS AND RESULTS
Genotyping of 13 single nucleotide polymorphisms (SNPs) in the NRG-1/ErbB2/ErbB4 genes was performed in 569 unrelated heart failure patients and 682 healthy controls from a Northern Han Chinese population with the use of iPlex SNP Genotyping analysis on a Sequenom Massarray System. In the ErbB4 gene, the variants rs10932374 and rs1595064 were associated with reduced risk of heart failure under allelic, recessive and additive genetic models, and the variants rs13003941 and rs1595065 were associated with increased risk of heart failure under allelic, dominant, and additive models. The G-G-C-C-T haplotype of rs10932374-rs13003941-rs1595064-rs1595065-rs3748960 in the ErbB4 gene increased the risk of heart failure (odd ratio 1.35, 95% confidence interval [CI] 1.06-1.70; P = .014). The T variant of rs13003941 was associated with larger left ventricle (dominant model, P = .014; additive model, P = .048), and increased risk of overall death (relative risk [RR] 1.48, 95% CI 1.01-2.18; P = .045) and cardiovascular death (RR 1.56, 95% CI 1.04-2.33; P = .03) after adjusting for age and sex. NRG-1/ErbB2 gene polymorphisms were not associated with heart failure risk or prognosis.
CONCLUSION
ErbB4 gene polymorphisms were associated with the risk, severity, and prognosis of heart failure in a Northern Han Chinese population.
背景
目前尚无研究评估人类神经调节蛋白（NRG）1/表皮生长因子受体（ErbB）2/ErbB4基因多态性与心力衰竭风险之间的关联。
方法与结果
运用Sequenom Massarray系统上的iPlex单核苷酸多态性（SNP）基因分型分析，对来自中国北方汉族人群的569例无亲缘关系的心力衰竭患者和682例健康对照者的NRG-1/ErbB2/ErbB4基因中的13个单核苷酸多态性进行基因分型。在ErbB4基因中，rs10932374和rs1595064变异在等位基因、隐性和加性遗传模型下与心力衰竭风险降低相关，而rs13003941和rs1595065变异在等位基因、显性和加性模型下与心力衰竭风险增加相关。ErbB4基因中rs10932374-rs13003941-rs1595064-rs1595065-rs3748960的G-G-C-C-T单倍型增加了心力衰竭风险（比值比1.35，95%置信区间[CI] 1.06-1.70；P = 0.014）。rs13003941的T变异与更大的左心室相关（显性模型，P = 0.014；加性模型，P = 0.048），并且在调整年龄和性别后，总体死亡风险增加（相对风险[RR] 1.48，95% CI 1.01-2.18；P = 0.045）以及心血管死亡风险增加（RR 1.56，95% CI 1.04-2.33；P = 0.03）。NRG-1/ErbB2基因多态性与心力衰竭风险或预后无关。
结论
在北方汉族人群中，ErbB4基因多态性与心力衰竭的风险、严重程度及预后相关。
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