醛固酮合成酶基因多态性与高血压及左室肥厚的关系

The relationship of aldosterone synthase gene polymorphism with hypertension and left ventricular hypertrophy

目的 本研究旨在观察血管紧张素转换酶 (ACE)基因Ⅰ /D多态性和醛固酮合成酶(CYP11B2 )基因 344C/T多态性与高血压 (EH)及左室肥厚 (LVH)的相关性。方法 将 136例原发性高血压病患者分为LVH组 72例 ,无LVH组 6 4例 ;应用多聚酶链式反应 (PCR)、限制性内切酶方法检测ACE和CYP11B2基因的多态性。结果 (1)无LVH组与LVH组ACE基因I/D多态性基因型和等位基因分布差异均有显著性 (P <0 0 5 ) ,LVH组Ⅱ基因型和Ⅰ等位基因频率显著高于无LVH组。 (2 )无LVH组与LVH组CYP11B2基因 344C/T多态性基因型和等位基因分布差异均有显著性 (P <0 0 5 ) ,LVH组CT基因型和C等位基因频率显著高于无LVH组。 (3)LVH组中的CT +Ⅱ联合基因型频率高于无LVH组 (P <0 0 5 )。结论 (1)ACE基因I/D和CYP11B2基因 344C/T多态性与高血压发生无相关性。 (2 )ACE基因Ⅱ多态性与LVH相关。 (3)CYP11B2基因 344CT基因型与LVH相关。 (4)CYP11B2基因

Objective To investigate the relationship of gene polymorphism of angiotension converting enzyme(ACE), aldosterone synthase(CYP11B2)with essential hypertension (EH) and left ventricular hypertrophy (LVH) in hypertensive patients Methods (1)Left ventricular mass and geometry were assessed with ECG and echocardiography in 136 hypertensive patients (2)The insertion/deletion polymorphism of ACE gene and the 344C/T polymorphism of CYP11B2 gene were monitored by polymerase chain reaction (PCR) Results (1)ACE and CYP11B2 gene showed significant difference in genotype or allele frequency distribution in the group with LVH as compared with the group without ( P <0 05) (2)There was a significant difference in CT+II combined genotype frequency distribution in the group with LVH as compared with the group without ( P <0 05) Conclusions (1)No relationship between the polymorphism of CYP11B2 gene and ACE gene with essential hyptension could be found (2)A significant relationship between the polymorphism of ACE and CYP11B2 gene with LVH in EH could be found I allele of ACE gene and C allele of CYP11B2 gene may be independent risk factors for LVH in hypertensive patients (3)There is a synergistic effect between the polymorphism of ACE gene and CYP11B2 gene to result in LVH in EH