醛固酮合成酶(CYP11B2)基因T(-344)C多态性与高血压病相关性研究
Polymorphism of Aldosterone Synthase Gene(CYP11B2) in Hypertension in China
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摘要: 目的 本研究探讨醛固酮合成酶基因 (CYP11B2 )基因T(- 344 )C多态性与原发性高血压之间关系。方法 选取吉林省原发性高血压患者 10 7例 ,其中男 6 4例 ,女 4 3例。正常人 12 7例 ,其中男 73例 ,女 5 4例。排除高血压病及其它器质性疾病。所有研究对象用常规方法提取白细胞DNA。采用多聚酶链反应结合限制性内切酶 (HaeⅢ )方法检测CYP11B2基因T(- 344 )C多态性。结果 共扩增成功 12 2例正常人和 10 1例高血压患者DNA标本。原发性高血压组和正常对照组CYP11B2基因T(- 344 )C多态性基因型TT、CT、CC分布分别为 6、2 8、6 7和 5、5 9、5 8,其中C、T等位基因频率在两组分别为 0 2 0、0 80和 0 2 8、0 72。原发性高血压组TT基因型 ,T等位基因频率显著高于正常对照组 ,CT基因型 ,C等位基因频率显著低于正常对照组 (P <0 0 5 )。结论 本研究提示醛固酮合成酶基因(CYP11B2 )基因T(- 344 )C多态性与中国人原发性高血压有关 ,可能是中国人原发性高血压的一个遗传标志。Abstract: Objective Renin-angiotensin-aldosterone system(RAAS) plays important role in the development of hypertension. Aldosterone is an important component in RAAS. The present paper is intended to investigate the relationship of aldosterone synthase(CYP11B2) gene -344C/T polymorphism and essential hypertension in Chinese people. Methods One hundred and seven patients with essential hypertension were enrolled into this study. 127 heathy people were as control group. DNA was extracted from white blood cell. Segments of CYP11B2 were amplified from DNA by polymerase chain reaction(PCR). PCR products were restricted with 5 U of Hae Ⅲ for 2 hours at 37 ℃. The digested products were subjected to electrophoresis in 2.5% agarose gels and stained with ethidium bromide. Results 1.Clinical characteristics and biochemical examinations showed, blood pressure, total cholesterol in essential hypertension was significantly higher than those in the control. 2.The frequency of CYP11B 2 -344C/T genotype in the hypertensive cohort and controls were CC:0.06 vs 0.04; CT: 0.28 vs 0.48; TT:0.66 vs 0.48 respectively. Allele frequencies were C:0.20 vs 0.28; T:0.80 vs 0.72. In this study, The frequency of the TT genotype, T allele in hypertension was significantly higher than that in the control. CT genotype, C allele was significantly lower than that in the control group( P ≤0.05). Conclusion The -344C/T polymorphism in the CYP11B2 gene is associated with essential hypertension in China. T allele may be a genetic marker in essential hypertension in China.
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