ACE/DD基因型和MYH7突变与原发性高血压左室肥厚的关系

Relationship between MYH7 gene mutation and the ACE/DD genotype and LVH in essential hypertension

目的探讨ACE/DD基因型与MYH7突变联合作用和高血压左室肥厚(LVH)的关系。方法对102例高血压LVH患者与101例高血压非LVH患者以及100例正常对照进行病例-对照研究。超声心动图测量和计算左室重量指数(LVMI)。用聚合酶链反应(PCR)、限制性片段长度多态性(RFLP)检测ACE/ID多态性,双脱氧末端测序方法检测MYH7基因突变。结果高血压LVH组ACE基因DD基因型频率显著高于高血压非LVH组和正常对照组(P<0.01);MYH7基因未发现突变。结论 ACE基因多态性与高血压LVH形成有关,DD基因型易发生左心室肥厚。MYH7基因突变与高血压LVH无明显关系,ACE基因DD基因型与MYH7基因间不存在联合作用。

Objective To investigate whether MYH7 gene mutation and the ACE/DD genotype were associated with left ventricular hypertrophy （LVH） in Chinese essential hypertension. Methods We conducted a case-control study on 303 volunteers, 102 hypertensive with LVH and 101 hypertensive without LVH and 100 normal controls. Echocardiography measurement and calculation of left ventricular mass index （LVMI）. Polymerase chain reaction （PCR）, restriction fragment length polymorphism （RFLP） detection ACE/DD genotype, double deoxidizing end se- quencing method to detect MYH7 genetic mutations. Results In LVH group, ACE gene frequency DD genotype was significantly higher than the hypertensive but without LVH group and the normal control group （ P 〈 0. 01 ） ; MYH7 gene mutation is not found. Conclusions ACE gene polymorphism has significant relationship with high blood pressure LVH, DD genotype vulnerable to left ventricular hypertrophy. MYH7 gene mutations and hyperten- sive with LVH have no significant relationship, no evidences are found to support the association between the ACE/ DD genotype as well as MYH7 gene mutation and LVH in essential hypertension.