Eur Heart J：解读遗传在高血压中扮演的角色（三）目前高血压治疗存在的问题以及对精准医学时代的展望

2017-06-05 fengxiangxin MedSci原创

与其他特征不一样，病情的早期发作通常被认为是比环境或生活方式更具有特异性和遗传性的因素。这个观点在 Niiranen等研究者的早期研究中得到了支持，并且他们的研究要要比关于第一代和第二代父母的高血压是后代高血压风险的强大预测因子的研究早55年。经过50-55年的时间，研究者才认识到当心室-血管耦合作用减弱和动脉硬化导致血管老化时，心脏收缩压增加而舒张压降低。

与其他特征不一样，病情的早期发作通常被认为是比环境或生活方式更具有特异性和遗传性的因素。这个观点在 Niiranen等研究者的早期研究中得到了支持，并且他们的研究要要比关于第一代和第二代父母的高血压是后代高血压风险的强大预测因子的研究早55年。经过50-55年的时间，研究者才认识到当心室-血管耦合作用减弱和动脉硬化导致血管老化时，心脏收缩压增加而舒张压降低。

55岁以后，血压升高以及心血管疾病的风险增加，可能反映出除了遗传因素外，基因突变对细胞老化进程的影响也属于该疾病的发病机理。

我们期望通过GWAS发现新的基因以弄清楚是否还有新的机制和途径导致了高血压的发生，同时期望新的治疗靶点被发现。现在的关键问题是我们能否通过直接使用这些基因信息提高病人的护理条件。目前，大多数对高血压的干预都是在血压已经升高之后才开始的，而此时血管已经出现硬化，终末靶器官的损伤也已经开始，我们才按照处方为所有的病人开出常规的抗高血压药物。

尽管这种方法具有简化治疗决策制定的优点，但它没有考虑在不同个体中不同的生物途径在高血压发病机理中所发挥的作用。

筛选出已知的与高血压风险增加的基因变异，并结合此信息对遗传风险评分，不仅可以提供高血压风险的信息，也可能找出高血压发病的本质原因。通过这种方法可以早期识别高血压风险因素；贯彻积极的甚至有针对性的生活方式干预疾病以及选择出针对个人更安全有效的心血管治疗药物。

这些概念是在"精准医学"的基础上的提出的，它是基于识别出疾病诊断前症状、弄清楚高风险病人的不同发病机制以及表现对治疗的特异性反应。心脏病和高血压以及他们对生命质量偌大的影响都是普遍存在的，精准医学应用到这些疾病可能会带来明显的公共卫生和经济效益。当然，这只是一个有吸引力的前瞻性研究，DNA测序在精准医学中应用于高血压病以及其他复杂临床疾病之前还有更过的重要步骤需要考虑。

Niiranen等人的论文通过运用Framingham队列中家庭结构和丰富的表型数据资料提供了一些关于高血压风险跨代传递的独特见解。虽然这是一个相对"低技术"的方法，但是作者强调，询问病人家族中父母甚至祖父母是否有早发型高血压可为临床医生判断年轻患者潜在的高血压风险归因于家族的共享基因和相似的生活环境背景。对于这些高血压高风险人群，我们至少应提供生活方式的改良措施和高血压发展的密切检测。这也许可以成为在我们等待精准医学到来期间的过渡步骤。

原始出处：

Patel， R.S.， S. Masi， and S. Taddei， Understanding the role of genetics in hypertension. Eur Heart J， 2017 May 25. doi： 10.1093/eurheartj/ehx273.

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2017-06-07 zhaojie88

#ART#

31 0
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2017-06-07 shijzhiewnjhch

#精准#

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2017-06-07 slcumt

#HEART#

32 0
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2017-06-05 thlabcde

好东西学习了！

78 0
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2017-06-05 changjiu

高血压风险评估

69 0
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2017-06-05 有备才能无患

对于这些高血压高风险人群，我们至少应提供生活方式的改良措施和高血压发展的密切检测。

74 0
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2017-06-05 楠博One

同样的饮食作息习惯形成了家族遗传因素

69 0

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