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反应蛋白1基因c.864A/G多态性与原发性高血压的关联

Association between the SPON1gene c.864A/G polymorphism and essential hypertension
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摘要 目的探讨反应蛋白1(SPON1)基因在中国东北汉族人群原发性高血压发生发展中的作用。方法应用实时聚合酶链式反应(real-timePCR)检测了475名中国东北汉族人(高血压患者259例,正常血压对照者216人)SPON1基因c.864A/G多态性基因型。结果 SPON1基因c.864A/G多态性AA、GA和GG基因型频率分别为52.6%、39.6%和7.8%,A和G等位基因频率分别为72.4%和27.6%,符合Hardy-Weinberg平衡。c.864A/G基因型在男性高血压和对照组间差异有统计学意义(P=0.041),高血压组GG纯合子频率明显高于对照组(10.4%比2.0%,P=0.012),男性GG纯合子高血压患病风险较高(OR5.565,95%CI1.251~24.764)。经Logistic回归分析调整其他男性高血压危险因素(体质量指数、血清总胆固醇、三酰甘油、低密度脂蛋白胆固醇和血清钠等)后GG基因型仍为男性原发性高血压的独立危险因素(相对危险度=5.625,95%CI1.103~28.679,P=0.038)。相关分析显示,男性GG纯合子舒张压较A等位基因携带者明显升高[(95.9±11.4)比(88.3±14.6)mmHg,P=0.030];其平均动脉压也明显高于A等位基因携带者[(120.2±10.7)比(113.1±18.9)mmHg,P=0.018]。结论首次发现SPON1基因可能是原发性高血压的易感基因之一;在中国东北男性汉族人群中,SPON1基因c.864A/G多态性GG纯合子舒张压水平较高,原发性高血压患病风险较大。 Objective To investigate the impact of the spondin 1(SPON1)gene in the development of essential hypertension in a Northeastern Han Chinese population.Methods The c.864A/G polymorphism in the SPON1gene was genotyped in 475Northeastern Han Chinese,including 259hypertensive patients and 216normotensives,using the real-time polymerase chain reaction method.Results Frequencies of the AA,GA,and GG genotype were 52.6%,39.6%and 7.8%respectively;and frequencies of the A and G allele were 0.724and 0.276,respectively.Distributions of genotype and allele frequency were in Hardy-Weinberg disequilibrium.In men,the c.864A/G genotype frequency varied significantly between hypertensive patients and normotensives(P=0.041),and the frequency of GG was significantly higher in hypertensive patients than in the control(10.4%vs 2.0%,P=0.012).The GG male carriers had an increased risk for hypertension(OR5.565;95%CI1.251-24.764).After adjusted by other risk factors for hypertension in men using Logistic regression,including body mass index,serum total cholesterol,triglyceride,low-density lipoprotein cholesterol and sodium,GG was still an independent risk factor for hypertension in men(OR5.625;95% CI 1.103-28.679,P=0.038).Correlation analysis demonstrated that the diastolic blood pressure was significantly higher in the GG male carriers than in the A allele carriers[(95.9±11.4)vs(88.3±14.6)mm Hg,P=0.030];and the mean arterial pressure in the GG male carriers was also higher than in the A allele carriers[(120.2±10.7)vs(113.1±18.9)mm Hg,P=0.018].Conclusion This study first reported that the SPON1gene may be one of the susceptibility genes for essential hypertension.In the Northeastern Han Chinese population,the male carriers of GG at the SPON1c.864A/G had elevated diastolic blood pressure levels as well as increased risk for essential hypertension.
出处 《中华高血压杂志》 CAS CSCD 北大核心 2011年第12期1169-1174,共6页 Chinese Journal of Hypertension
基金 国家自然科学基金(30800463)资助
关键词 反应蛋白1基因 多态性 原发性高血压 关联研究 SPON1gene Polymorphism Essential hypertension Association study
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