川崎病抗血栓治疗药物相关基因多态性研究进展
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摘要
川崎病(KD)合并冠状动脉瘤导致血栓形成是KD的严重并发症,是患儿及其成年后严重的心脏疾病。KD的抗血栓治疗药物包括阿司匹林、氯吡格雷、华法林及双嘧达莫。这些药物在临床治疗中的个体化差异与遗传密切相关。目前,与阿司匹林相关基因研究尚无明确定论,而有关氯吡格雷研究较多且结论较为明确统一的基因为CYP2C19,与华法林相关的为CYP2C9和VKORC1,尚未发现双嘧达莫相关基因研究。这些研究结果大多来源于成人研究,且相关基因多态性已分为不同证据级别,为儿童抗血栓治疗研究提供了方向。
Kawasaki disease(KD) with coronary artery aneurysm causing thrombosis is a serious complication of KD and a serious heart disease in children and their adulthood. Antithrombotic drugs include Aspirin, Clopidogrel, Warfarin and Dipyridamole. The individualized differences in the clinical treatment of these drugs are closely related to heredity. At present, there is no definite conclusion on Aspirin-related gene research, while more studies on Clopidogrel and more definite and unified conclusion are CYP2 C19 and Warfarin-related are CYP2 C9 and VKORC1, and no Dipyridamole-related gene research has been found. Most of these findings come from adult studies, and the related gene polymorphisms have been divided into different levels of evidence, which provides a direction for the study of antithrombotic therapy in children.
Kawasaki disease(KD) with coronary artery aneurysm causing thrombosis is a serious complication of KD and a serious heart disease in children and their adulthood. Antithrombotic drugs include Aspirin, Clopidogrel, Warfarin and Dipyridamole. The individualized differences in the clinical treatment of these drugs are closely related to heredity. At present, there is no definite conclusion on Aspirin-related gene research, while more studies on Clopidogrel and more definite and unified conclusion are CYP2 C19 and Warfarin-related are CYP2 C9 and VKORC1, and no Dipyridamole-related gene research has been found. Most of these findings come from adult studies, and the related gene polymorphisms have been divided into different levels of evidence, which provides a direction for the study of antithrombotic therapy in children.
引文
[1]李晓惠.川崎病诊断与治疗新进展[J].中华实用儿科临床杂志,2013,28(1):9-13.
[2]邴振,泮思林,王本臻.川崎病抗血栓治疗研究进展[J].国际心血管病杂志,2016,43(1):25-27.
[3]Mc Crindle BW,Rowley AH,Newburger JW,et al.Diagnosis,Treatment,and Long-Term Management of Kawasaki Disease:A Scientific Statement for Health Professionals From the American Heart Association[J].Circulation,2017,135(17):e927-e999.
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[5]Kim SH,Son JK,Yang EM,et al.A functional promoter polymorphism of the human IL18 gene is associated with aspirin-induced urticaria[J].Br J Dermatol,2011,165(5):976-984.
[6]Mastalerz L,Setkowicz M,Sanak M,et al.Hypersensitivity to aspirin:common eicosanoid alterations in urticaria and asthma[J].J Allergy Clin Immunol,2004,113(4):771-775.
[7]Mastalerz L,Setkowicz M,Sanak M,et al.Familial aggregation of aspirin-induced urticaria and leukotriene C synthase allelic variant[J].Br J Dermatol,2006,154(2):256-260.
[8]Park BL,Kim TH,Kim JH,et al.Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population[J].Hum Genet,2013,132(3):313-321.
[9]Kim SH,Cho BY,Choi H,et al.The SNP rs3128965 of HLA-DPB1 as a genetic marker of the AERD phenotype[J]PLo S One,2014,9(12):e111220.
[10]Yang Y,Lewis JP,Hulot JS,et al.The pharmacogenetic control of antiplatelet response:candidate genes and CYP2C19[J].Expert Opin Drug Metab Toxicol,2015,11(10):1599-1617.
[11]Scott SA,Sangkuhl K,Shuldiner AR,et al.Pharm GKB summary:very important pharmacogene information for cytochrome P450,family 2,subfamily C,polypeptide 19[J].Pharmacogenet Genomics,2012,22(2):159-165.
[12]Gonzalez A,Moniche F,Cayuela A,et al.Effect of CYP2C19Polymorphisms on the Platelet Response to Clopidogrel and Influence on the Effect of High Versus Standard Dose Clopidogrel in Carotid Artery Stenting[J].Eur JVasc Endovasc Surg,2016,51(2):175-186.
[13]Zhai Y,He H,Ma X,et al.Meta-analysis of effects of ABCB1 polymorphisms on clopidogrel response among patients with coronary artery disease[J].Eur J Clin Pharmacol,2017,73(7):843-854.
[14]Yang HH,Chen Y,Gao CY.Associations of P2Y12R gene polymorphisms with susceptibility to coronary heart disease and clinical efficacy of antiplatelet treatment with clopidogrel[J].Cardiovasc Ther,2016,34(6):460-467.
[15]Friede K,Li J,Voora D.Use of Pharmacogenetic Information in the Treatment of Cardiovascular Disease[J].Clin Chem,2017,63(1):177-185.
[16]Johnson JA,Gong L,Whirl-Carrillo M,et al.Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing[J]Clin Pharmacol Ther,2011,90(4):625-629.
[17]Lee CR,Goldstein JA,Pieper JA.Cytochrome P450 2C9polymorphisms:a comprehensive review of the in-vitro and human data[J].Pharmacogenetics,2002,12(3):251-263.
[18]Flora DR,Rettie AE,Brundage RC,et al.CYP2C9 Genotype-Dependent Warfarin Pharmacokinetics:Impact of CYP2C9 Genotype on R-and S-Warfarin and Their Oxidative Metabolites[J].J Clin Pharmacol,2017,57(3):382-393.
[19]Zhang J,Tian L,Huang J,et al.Cytochrome P450 2C9gene polymorphism and warfarin maintenance dosage in pediatric patients:A systematic review and meta-analysis[J]Cardiovasc Ther,2017,35(1):26-32.
[20]Li S,Zou Y,Wang X,et al.Warfarin dosage response related pharmacogenetics in Chinese population[J].PLo SOne,2015,10(1):e116463.
[21]Liu J,Jiang HH,Wu DK,et al.Effect of gene polymorphims on the warfarin treatment at initial stage[J].Pharmacogenomics J,2017,17(1):47-52.
[22]Margaglione M,Colaizzo D,D'Andrea G,et al.Genetic modulation of oral anticoagulation with warfarin[J].Thromb Haemost,2000,84(5):775-778.
[23]Militaru FC,Vesa SC,Pop TR,et al.Pharmacogenetics aspects of oral anticoagulants therapy[J].J Med Life,2015,8(2):171-175.
[24]Wakamiya T,Hokosaki T,Tsujimoto S,et al.Effect of VKORC1,CYP2C9,CFP4F2,and GGCX Gene Polymorphisms on Warfarin Dose in Japanese Pediatric Patients[J]Mol Diagn Ther,2016,20(4):393-400.
[25]Sun Y,Wu Z,Li S,et al.Impact of gamma-glutamyl carboxylase gene polymorphisms on warfarin dose requirement:a systematic review and meta-analysis[J].Thromb Res,2015,135(4):739-747.
[26]李治安,王建文,王新房,等.冠心病患者心肌内血流状态和盗血现象的多普勒显像研究[J].中国超声医学杂志,2001(6):420-424.
[27]Ellis KJ,Stouffer GA,Mc Leod HL,et al.Clopidogrel pharmacogenomics and risk of inadequate platelet inhibition:US FDA recommendations[J].Pharmacogenomics,2009,10(11):1799-1817.
[28]Gage BF,Lesko LJ.Pharmacogenetics of warfarin:regulatory,scientific,and clinical issues[J].J Thromb Thrombolysis,2008,25(1):45-51.
[29]Johnson JA,Caudle KE,Gong L,et al.Clinical Pharmacogenetics Implementation Consortium(CPIC)Guideline for Pharmacogenetics-Guided Warfarin Dosing:2017 Update[J].Clin Pharmacol Ther,2017,102(3):397-404.
[2]邴振,泮思林,王本臻.川崎病抗血栓治疗研究进展[J].国际心血管病杂志,2016,43(1):25-27.
[3]Mc Crindle BW,Rowley AH,Newburger JW,et al.Diagnosis,Treatment,and Long-Term Management of Kawasaki Disease:A Scientific Statement for Health Professionals From the American Heart Association[J].Circulation,2017,135(17):e927-e999.
[4]施婷婷.川崎病合并冠状动脉损害的远期转归与随访[J].国际儿科学杂志,2010,37(3):294-297.
[5]Kim SH,Son JK,Yang EM,et al.A functional promoter polymorphism of the human IL18 gene is associated with aspirin-induced urticaria[J].Br J Dermatol,2011,165(5):976-984.
[6]Mastalerz L,Setkowicz M,Sanak M,et al.Hypersensitivity to aspirin:common eicosanoid alterations in urticaria and asthma[J].J Allergy Clin Immunol,2004,113(4):771-775.
[7]Mastalerz L,Setkowicz M,Sanak M,et al.Familial aggregation of aspirin-induced urticaria and leukotriene C synthase allelic variant[J].Br J Dermatol,2006,154(2):256-260.
[8]Park BL,Kim TH,Kim JH,et al.Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population[J].Hum Genet,2013,132(3):313-321.
[9]Kim SH,Cho BY,Choi H,et al.The SNP rs3128965 of HLA-DPB1 as a genetic marker of the AERD phenotype[J]PLo S One,2014,9(12):e111220.
[10]Yang Y,Lewis JP,Hulot JS,et al.The pharmacogenetic control of antiplatelet response:candidate genes and CYP2C19[J].Expert Opin Drug Metab Toxicol,2015,11(10):1599-1617.
[11]Scott SA,Sangkuhl K,Shuldiner AR,et al.Pharm GKB summary:very important pharmacogene information for cytochrome P450,family 2,subfamily C,polypeptide 19[J].Pharmacogenet Genomics,2012,22(2):159-165.
[12]Gonzalez A,Moniche F,Cayuela A,et al.Effect of CYP2C19Polymorphisms on the Platelet Response to Clopidogrel and Influence on the Effect of High Versus Standard Dose Clopidogrel in Carotid Artery Stenting[J].Eur JVasc Endovasc Surg,2016,51(2):175-186.
[13]Zhai Y,He H,Ma X,et al.Meta-analysis of effects of ABCB1 polymorphisms on clopidogrel response among patients with coronary artery disease[J].Eur J Clin Pharmacol,2017,73(7):843-854.
[14]Yang HH,Chen Y,Gao CY.Associations of P2Y12R gene polymorphisms with susceptibility to coronary heart disease and clinical efficacy of antiplatelet treatment with clopidogrel[J].Cardiovasc Ther,2016,34(6):460-467.
[15]Friede K,Li J,Voora D.Use of Pharmacogenetic Information in the Treatment of Cardiovascular Disease[J].Clin Chem,2017,63(1):177-185.
[16]Johnson JA,Gong L,Whirl-Carrillo M,et al.Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing[J]Clin Pharmacol Ther,2011,90(4):625-629.
[17]Lee CR,Goldstein JA,Pieper JA.Cytochrome P450 2C9polymorphisms:a comprehensive review of the in-vitro and human data[J].Pharmacogenetics,2002,12(3):251-263.
[18]Flora DR,Rettie AE,Brundage RC,et al.CYP2C9 Genotype-Dependent Warfarin Pharmacokinetics:Impact of CYP2C9 Genotype on R-and S-Warfarin and Their Oxidative Metabolites[J].J Clin Pharmacol,2017,57(3):382-393.
[19]Zhang J,Tian L,Huang J,et al.Cytochrome P450 2C9gene polymorphism and warfarin maintenance dosage in pediatric patients:A systematic review and meta-analysis[J]Cardiovasc Ther,2017,35(1):26-32.
[20]Li S,Zou Y,Wang X,et al.Warfarin dosage response related pharmacogenetics in Chinese population[J].PLo SOne,2015,10(1):e116463.
[21]Liu J,Jiang HH,Wu DK,et al.Effect of gene polymorphims on the warfarin treatment at initial stage[J].Pharmacogenomics J,2017,17(1):47-52.
[22]Margaglione M,Colaizzo D,D'Andrea G,et al.Genetic modulation of oral anticoagulation with warfarin[J].Thromb Haemost,2000,84(5):775-778.
[23]Militaru FC,Vesa SC,Pop TR,et al.Pharmacogenetics aspects of oral anticoagulants therapy[J].J Med Life,2015,8(2):171-175.
[24]Wakamiya T,Hokosaki T,Tsujimoto S,et al.Effect of VKORC1,CYP2C9,CFP4F2,and GGCX Gene Polymorphisms on Warfarin Dose in Japanese Pediatric Patients[J]Mol Diagn Ther,2016,20(4):393-400.
[25]Sun Y,Wu Z,Li S,et al.Impact of gamma-glutamyl carboxylase gene polymorphisms on warfarin dose requirement:a systematic review and meta-analysis[J].Thromb Res,2015,135(4):739-747.
[26]李治安,王建文,王新房,等.冠心病患者心肌内血流状态和盗血现象的多普勒显像研究[J].中国超声医学杂志,2001(6):420-424.
[27]Ellis KJ,Stouffer GA,Mc Leod HL,et al.Clopidogrel pharmacogenomics and risk of inadequate platelet inhibition:US FDA recommendations[J].Pharmacogenomics,2009,10(11):1799-1817.
[28]Gage BF,Lesko LJ.Pharmacogenetics of warfarin:regulatory,scientific,and clinical issues[J].J Thromb Thrombolysis,2008,25(1):45-51.
[29]Johnson JA,Caudle KE,Gong L,et al.Clinical Pharmacogenetics Implementation Consortium(CPIC)Guideline for Pharmacogenetics-Guided Warfarin Dosing:2017 Update[J].Clin Pharmacol Ther,2017,102(3):397-404.