精準醫(yī)療與肺動脈高壓
發(fā)布時間:2019-07-04 09:46
【摘要】:精準醫(yī)療能夠涉及各種不同的疾病,許多疾病都可以在從基因層面進行細分,并根據(jù)不同基因型對各種藥物敏感性及耐受性的不同,選擇更為精準的治療方案。肺動脈高壓(pulmonary artery hypertension,PAH)目前是一種發(fā)病機制尚未完全闡明的致死性肺血管病。特發(fā)性和家族遺傳性肺動脈高壓的遺傳學機制主要有:BMPR2及TGF-β信號通路相關基因突變、K+通道編碼基因KCNK3及KCNA5的改變、CAV1基因突變、CBLN2基因多態(tài)性及TBX4、THBS1基因改變等?蓳(jù)此對PAH進行更為精確的分類。另外,不同類型的PAH對于不同靶向藥物的敏感性也不同,其中,rs11157866多態(tài)性與內(nèi)皮素受體拮抗劑治療肺動脈高壓的效果相關,GNB3基因C825T多態(tài)性與5-磷酸二酯酶抑制劑西地那非的療效相關,CYP2C9*2基因多態(tài)性位點rs1799853與內(nèi)皮素受體拮抗劑波生坦造成的肝損害相關。這些發(fā)現(xiàn)都將使精準醫(yī)療在PAH的治療中發(fā)揮巨大的作用。
[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.
【學位授予單位】:南昌大學
【學位級別】:碩士
【學位授予年份】:2017
【分類號】:R544.1
[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.
【學位授予單位】:南昌大學
【學位級別】:碩士
【學位授予年份】:2017
【分類號】:R544.1
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