内皮型一氧化氮合酶基因多态性与原发性高血压

eNOS Gene Polymorphisms and Essential Hypertension

原发性高血压(essential hypertension,EH)是遗传和环境因素共同作用、以血压增高为主要表现的一种慢性复杂性疾病。内皮型一氧化氮合酶(endothelial nitric oxide synthase,eNOS)基因是近年来备受关注的一种EH相关候选基因。eNOS基因多态性影响其编码的氨基酸序列,引起血液中内源性一氧化氮(nitric oxide,NO)浓度的改变,进而影响血压的变化。目前eNOS基因研究较多的位点是:G894T多态性,27bpVNTR多态性,T786C多态性,以及研究较少的rs3918188和rs7830位点多态性等。受地域、种族及样本量等因素的影响,这些基因位点与EH的关系各研究结果并不完全一致,本文就eNOS基因多态性与EH的关联作一综述。

Essential hypertension(EH)is a chronic complex disease,which is caused by genetic and environmental factors with increased blood pressure as the main performance.Endothelial nitric oxide synthase(endothelial nitric oxide synthase,eNOS)gene is a candidate gene which is associated with EH and highlighted in recent years.eNOS polymorphisms affect the amino acid sequence,cause the NO concentration in the blood to change,and then influence blood pressure changes.Currently G894Tpolymorphism,27bpVNTR polymorphism and T786Cpolymorphism are the eNOS gene loci which have been studied most and less attention has been paid to both rs3918188and rs7830.The relationships between these loci and EH are not entirely consistent in each study,which is caused by different regions,ethnicities and other factors such as the sample size.This paper is a review of the relevance between eNOS gene polymorphisms and EH.