高血压相关基因研究进展

Recent development in hypertension gene study

遗传与基因组医学的进展,催生了精准医疗学科的发展。高血压领域与高血压相关基因研究的进展非常快,主要在三个方面:(1)单基因高血压致病基因的发现,目前至少有17种单基因(或寡基因)高血压,能够找到致病基因,根据致病基因,进行靶向治疗。这一进展目前就可以在临床上推广使用。(2)药物基因组学指导的降压药选择,提高疗效,降低药物副反应,已经显示广阔的前景,如β-受体阻滞剂。但是药物基因组指导的降压药选择,缺乏大规模前瞻性研究,对临床后果影响的研究报告比较少。有待补充这方面的数据。(3)大多数高血压是原发性高血压,多基因,多因素疾病,通过人类全基因组关联分析(GWAS)研究,已经有一些高血压相关遗传变异被发现,但是,所能解释的血压变异非常少,有待进一步研究证明。

Genetic as well as genomic study has advanced the development of precision medicine. We are marching on the road for right patients who are receiving more and more right treatment at right time. In hypertension field, precision medicine is available, actionable and affordable. First and the most practical advancement is monogenic hypertension, the disease-genes have been found for at least 17 types of monogenic hypertension. These patients can be precisely treated according to their carried gene mutation. Secondly, pharmacogenetic and pharmacogenomic guided anti-hypertensive drug selection, very promising but lack of clinic outcome data to support widely clinical application. Majority of hypertension are due to multiple genetic and environmental factors. GWAS fund some genetic variants related to primary hypertension, but these variants can only be responsible for 1-10% of blood pressure variation. We have a long way to go in exploring the real cause of primary hypertension.