药物代谢酶和药物作用靶点基因检测技术指南(试行)

附录D. 药物代谢酶和药物作用靶点基因相关的药物

基因或变异名称 个体化应用的药物
药物代谢酶与转运体基因
ALDH2 硝酸甘油
CYP2C9 华法林、塞来昔布、洛沙坦
CYP2C19 氯吡格雷、S-美芬妥英、奥美拉唑、阿米替林、伏立康唑、安定、去甲安定
CYP2D6 他莫昔芬、阿米替林、昂丹司琼、美托洛尔、氯丙咪嗪、去甲替林、地昔帕明、多虑平、丙咪嗪、马普替林、奥匹哌醇、三甲丙咪嗪、曲马多
CYP3A5 他克莫司
CYP4F2 华法林
DPYD 氟尿嘧啶、卡培他滨、替加氟
NAT1NAT2 异烟肼、普鲁卡因胺、吡嗪酰胺、利福平、氨基水杨酸、对氨基苯甲酸
SLCO1B1 辛伐他汀、西立伐他汀、匹伐他汀、阿托伐他汀
TPMT 6-巯基嘌呤、6-硫鸟嘌呤、硫唑嘌呤、顺铂
UGT1A1 伊立替康
药物作用靶点基因  
ACE I 福辛普利、依那普利、赖诺普利、卡托普利
ADRB1 b受体阻断剂如美托洛尔
APOE 普伐他汀
ANKK1 第二代抗精神病药
IFNL3 聚乙二醇干扰素α-2a、聚乙二醇干扰素α-2b、利巴韦林
PML-RARα 三氧化二砷
TOP2A 蒽环类化疗药物
VKORC1 华法林
ERCC1 铂类药物(顺铂、卡铂和奥沙利铂)
RRM1 吉西他滨
其他基因  
dMMR 氟尿嘧啶
G6PD 氯喹、氨苯砜、拉布立酶
HLA-B 卡马西平、苯妥英、阿巴卡韦、别嘌呤醇
MGMT 替莫唑胺
MSI 氟尿嘧啶

 

参考文献

1) www.pharmgkb.org/

2) International Warfarin Pharmacogenetics Consortium.Estimation of the warfarin dose with clinical and pharmacogenetic data. N Engl J Med. 2009;360(8):753-64.

3) Aithal GP, Day CP, Kesteven PJ, Daly AK. Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications. Lancet 1999;353:717-9.

4) Takeuchi F, McGinnis R, Bourgeois S, Barnes C, Eriksson N, Soranzo N, et al. A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose. PLoS Genet 2009;5:e1000433.

5) www.fda.gov/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics

6) Schroth W, Antoniadou L, Fritz P, Schwab M, Muerdter T, Zanger UM, et al. Breast cancer treatment outcome with adjuvant tamoxifen relative to patient CYP2D6 and CYP2C19 genotypes. J Clin Oncol 2007;25:5187-93.

7) Lim HS, Ju LH, Seok LK, Sook LE, Jang IJ, Ro J. Clinical implications of CYP2D6 genotypes predictive of tamoxifen pharmacokinetics in metastatic breast cancer. J Clin Oncol 2007;25:3837-45.

8) Terrazzino S, Cargnin S, Del RM, Danesi R, Canonico PL, Genazzani AA. DPYD IVS14+1G>A and 2846A>T genotyping for the prediction of severe fluoropyrimidine-related toxicity: a meta-analysis. Pharmacogenomics 2013;14:1255-72.

9) Caudle KE, Thorn CF, Klein TE, Swen JJ, McLeod HL, Diasio RB, Schwab M. Clinical Pharmacogenetics Implementation Consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing. Clin Pharmacol Ther 2013;94:640-5.

10) Link E, Parish S, Armitage J, Bowman L, Heath S, Matsuda F, et al. SLCO1B1 variants and statin-induced myopathy–a genomewide study. N Engl J Med 2008;359:789-99.

11) de Keyser CE, Eijgelsheim M, Hofman A, Sijbrands EJ, Maitland-van DZA, van Duijn CM, et al. Single nucleotide polymorphisms in genes that are associated with a modified response to statin therapy: the Rotterdam Study. Pharmacogenomics J 2011;11:72-80.

12) Black AJ, McLeod HL, Capell HA, Powrie RH, Matowe LK, Pritchard SC, et al. Thiopurine methyltransferase genotype predicts therapy-limiting severe toxicity from azathioprine. Ann Intern Med 1998;129:716-8.

13) Onoue M, Terada T, Kobayashi M, Katsura T, Matsumoto S, Yanagihara K, et al. UGT1A1*6 polymorphism is most predictive of severe neutropenia induced by irinotecan in Japanese cancer patients. Int J Clin Oncol 2009;14:136-42.

14) Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P, Soubrier F. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J Clin Invest 1990;86:1343-6.

15) Thorn GF, Klein TE, Altman RB. PharmGKB summary: very important pharmacogene information for angiotensin-converting enzyme. Pharmacogenet Genomics 2010;20:143-6.

16) Parvez B, Chopra N, Rowan S, Vaglio JC, Muhammad R, Roden DM, Darbar D. A common beta1-adrenergic receptor polymorphism predicts favorable response to rate-control therapy in atrial fibrillation. J Am Coll Cardiol 2012;59:49-56.

17) 2012 NCCN Chronic Myelogenous Leukemia Guideline

18) Sargent DJ, Marsoni S, Monges G, Thibodeau SN, Labianca R, Hamilton SR, et al. Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol 2010;28:3219-26.

19) Chung WH, Hung SI, Hong HS, Hsih MS, Yang LC, Ho HC, et al. Medical genetics: a marker for Stevens-Johnson syndrome. Nature 2004;428:486.

20) Kang HR, Jee YK, Kim YS, Lee CH, Jung JW, Kim SH, et al. Positive and negative associations of HLA class I alleles with allopurinol-induced SCARs in Koreans. Pharmacogenet Genomics 2011;21:303-7.

21) Ribic CM, Sargent DJ, Moore MJ, Thibodeau SN, French AJ, Goldberg RM, et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 2003;349:247-57.

22) Gryfe R, Kim H, Hsieh ET, Aronson MD, Holowaty EJ, Bull SB, et al. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer. N Engl J Med 2000;342:69-77

23) 李艳,李金明. 《个体化医疗中的临床分子诊断》 人民卫生出版社 2013年8月.

 

 

相关文章
留下回复