肾素-血管紧张素系统基因多态性与原发性高血压左心室肥厚关系的探讨

目的　探讨肾素 血管紧张素系统 (RAS)基因多态性与原发性高血压左心室肥厚 (EH LVH)的相关性以及在EH LVH产生中的多基因协同作用。方法　对 10 9例原发性高血压病 (EH)患者 ,采用聚合酶链反应 (PCR)以及聚合酶链反应 限制性片段长度多态性方法检测血液白细胞染色体DNA中血管紧张素转换酶 ACE(I D) ]、血管紧张素原 AGT(M2 35T) ]和血管紧张素Ⅱ 1型受体 AT1 R(A116 6C) ]基因多态性 ;利用超声心动图检测左心室质量 (LVM)并计算左心室质量指数 (LVMI)。结果　ACE(I D)基因多态性D等位基因频率在EH LVH组中明显增高 (χ2 =4 .6 9,P=0 .0 30 ) ,男性EH患者中 ,ACE(I D)基因型构成比与LVH有关联 (χ2 =9.5 5 ,P =0 .0 0 8)。协同存在AGT TT型时 ,ACE(I D)基因多态性与EH LVH有关 (χ2 =6 .2 2 ,P =0 .0 4 4 ) ,且D等位基因在EH LVH明显增高 (χ2 =6 .91,P =0 .0 0 9) ,该类EH患者发生LVH的相对危险度增高 (OR :2 .5 0 ,95 %CI:1.2 5～ 5 .0 0 )。结论　ACE(I D)基因多态性D等位基因可能是LVH的独立危险因子。ACE基因多态性与AGT基因多态性之间的协同效应表明 ,同时携带AGT TT型时 ,具有ACE(I D)基因多态性D等位基因的EH患者更易发生LVH。

Renin-angiotensin system gene polymorphisms and left ventricular hypertrophy in essential hypertension: an association study

Objectives To investigate both the separate and interactive effects of three gene polymorphisms on EH LVH,and to figure out more evidences about genetic susceptibility of RAS gene polymorphisms on EH LVH further.Methods The gene polymorphism of ACE(I/D) was determined by polymerase chain reaction(PCR) and gene polymorphisms of AGT(M235T) and AT 1R(A1166C) were determined by polymerase chain reaction restriction fragment length polymorphism(PCR RFLP) respectively in 109 patients with EH recruited from Sichuan Hans population.Left ventricular mass (LVM) of 109 patients with EH was measured by echocardiography,and left ventricular mass index (LVMI) was calculated.Results There was an association between the genotype of ACE(I/D) and EH LVH in male patients(χ 2=9.55,P=0.008).There was an association of ACE(I/D)genotype with EH LVH carrying the AGT TT genotype(χ 2=6.22,P=0.044),as well as the D allele in EH LVH group was significantly greater than that in EH non LVH one carrying the AGT TT genotype(χ 2=6.91,P=0.009).Moreover,the relative risk to LVH increased in these kinds of EH patients(OR: 2.50,95%CI:1.25～5.00).Conclusions The D allele of ACE(I/D)may be an independent risk factor for LVH.The synergistic effects of ACE and AGT gene polymorphism indicated that D allele of ACE(I/D)was more susceptibility to EH LVH carrying AGT TT genotype by combined genotype analysis.