精准医疗与肺动脉高压

发布时间：2019-07-04 09:46

【摘要】：精准医疗能够涉及各种不同的疾病,许多疾病都可以在从基因层面进行细分,并根据不同基因型对各种药物敏感性及耐受性的不同,选择更为精准的治疗方案。肺动脉高压(pulmonary artery hypertension,PAH)目前是一种发病机制尚未完全阐明的致死性肺血管病。特发性和家族遗传性肺动脉高压的遗传学机制主要有:BMPR2及TGF-β信号通路相关基因突变、K+通道编码基因KCNK3及KCNA5的改变、CAV1基因突变、CBLN2基因多态性及TBX4、THBS1基因改变等。可据此对PAH进行更为精确的分类。另外,不同类型的PAH对于不同靶向药物的敏感性也不同,其中,rs11157866多态性与内皮素受体拮抗剂治疗肺动脉高压的效果相关,GNB3基因C825T多态性与5-磷酸二酯酶抑制剂西地那非的疗效相关,CYP2C9*2基因多态性位点rs1799853与内皮素受体拮抗剂波生坦造成的肝损害相关。这些发现都将使精准医疗在PAH的治疗中发挥巨大的作用。
[Abstract]:Precision medical treatment can involve a variety of different diseases, many diseases can be subdivided from the genetic level, and according to the sensitivity and tolerance of different genotypes to various drugs, a more accurate treatment scheme can be selected. Pulmonary hypertension (pulmonary artery hypertension,PAH) is a fatal pulmonary vascular disease whose pathogenesis has not been fully clarified. The genetic mechanisms of Idiopathic and familial hereditary pulmonary hypertension are as follows: BMPR2 and TGF- 尾 signaling pathway related gene mutations, K channel coding genes KCNK3 and KCNA5, CAV1 gene mutations, CBLN2 gene polymorphism and TBX4,THBS1 gene changes. According to this, PAH can be classified more accurately. In addition, the sensitivity of different types of PAH to different targeted drugs was also different. Rs11157866 polymorphism was related to the effect of et receptor antagonist in the treatment of pulmonary hypertension. GNB3 gene C825T polymorphism was associated with the efficacy of 5-phosphodiesterase inhibitor sildenafil, and CYP2C9*2 gene polymorphism site rs1799853 was associated with liver damage caused by et receptor antagonist bosentan. These findings will make precision medicine play a huge role in the treatment of PAH.
【学位授予单位】：南昌大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R544.1

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