CYP11B2基因多态性与原发性高血压关联性研究进展.docVIP

CYP11B2基因多态性与原发性高血压关联性研究进展 　　[摘要] 原发性高血压是一种常见的由遗传因素和环境因素共同作用引起的多基因遗传性疾病，且会引发多种严重并发症，严重危害人民群众的健康和生活质量。据可靠统计，原发性高血压患者占高血压患者总数的90%～95%，且发病率持续升高。原发性高血压的发病机制主要有交感神经活性亢进、肾素-血管紧张素-醛固酮系统（RAAS）失衡、水钠潴留、内皮细胞功能受损等，其中肾素-血管紧张素-醛固酮系统在该病的发病过程与病理学基础中起重要作用。CYP11B2是与原发性高血压相关的重要候选基因，该基因不同基因型的表达与醛固酮的合成与分泌密切相关，进而影响肾素-血管紧张素-醛固酮系统的生理平衡。本文就CYP11B2基因多态性与原发性高血压的关联性作一系统综述。 　　[关键词] 原发性高血压；CYP11B2；肾素-血管紧张素-醛固酮系统；基因多态性 　　[中图分类号] R544.1 [文献标识码] A [文章编号] 1673-9701（2016）19-0165-04 　　[Abstract] Primary hypertension is a common polygenic hereditary disease caused by combined action of genetic factors and environmental factors. It can lead to several severe complications， severely impairing the health condition and quality of life of patients. According to reliable statistics， 90%-95% of all the hypertensive patients are of primary hypertension， and the incidence rate is continuously increasing. The main mechanism of primary hypertension is hyperfunction of sympathetic nerve activity， unbalance of renin-angiotensin-aldosterone system （RAAS）， water-sodium retention， and damaged endothelial function， of which RAAS plays an important role in the pathogenic process and pathological foundation of the disease. CYP11B2 is an important candidate gene associated with primary hypertension. The expression of different genotypes of CYP11B2 has close relationship with the synthesis and secretion of aldosterone， which further affect the physiological equilibrium of RAAS. This article is a systematic review on the relevance between CYP11B2 gene polymorphism and primary hypertension. 　　[Key words] Primary hypertension； CYP11B2； Renin-angiotensin-aldosterone system； Gene polymorphism 　　原发性高血压（essential hypertension，EH）是典型的遗传物质与环境因素共同作用的多基因遗传性疾病[1]，居心血管疾病发病率首位，同时又是其他多种严重心脑血管疾病的危险因素，且已成为人类主要的死因之一[2]，大多数见于中老年人，该病起病隐匿，进展缓慢，若未能及时得到有效治疗则会引发头晕、失眠等神经症状及一个或多个靶器官损害。据统计，我国高血压的发病率呈不断增长的趋势且发病人群年轻化，仅有不到30%的高血压患者得到了有效控制。目前认为原发性高血压是由很多相互作用的因素引起，包括年龄、遗传因素、高钠低钾饮食、超重和肥胖、吸烟饮酒史及精神紧张等，据流行病学调查显示，有31%～68%的高血压病患者有家庭遗传病史[3]，据文献报道，原发性高血压的