Rare genetic variants in cellular transporters, metabolic enzymes, and nuclear receptors can be important determinants of interindividual differences in drug response.
作者： Mikael Kozyra , Magnus Ingelman-Sundberg , Volker M. Lauschke
DOI: 10.1038/GIM.2016.33
关键词: Exome 、 Receptor 、 Nuclear receptor 、 Polymorphism (computer science) 、 Population 、 Genetics 、 Biology 、 Transporter 、 Genetic variation 、 Genome-wide association study
摘要: Rare genetic variants in cellular transporters, metabolic enzymes, and nuclear receptors can be important determinants of interindividual differences drug response
nature.com
sci-hub.se 参考文章(38)
E. A. Roundhill, J. I. Fletcher, M. Haber, M. D. Norris, Clinical Relevance of Multidrug-Resistance-Proteins (MRPs) for Anticancer Drug Resistance and Prognosis Springer, Cham. pp. 27- 52 ,(2015) , 10.1007/978-3-319-09801-2_2
Kohei Fujikura, Magnus Ingelman-Sundberg, Volker M. Lauschke, Genetic variation in the human cytochrome P450 supergene family Pharmacogenetics and Genomics. ,vol. 25, pp. 584- 594 ,(2015) , 10.1097/FPC.0000000000000172
Matthew W. Snyder, Andrew Adey, Jacob O. Kitzman, Jay Shendure, Haplotype-resolved genome sequencing: experimental methods and applications Nature Reviews Genetics. ,vol. 16, pp. 344- 358 ,(2015) , 10.1038/NRG3903
SLCO1B1 variants and statin-induced myopathy--a genomewide study The New England Journal of Medicine. ,vol. 359, pp. 789- 799 ,(2008) , 10.1056/NEJMOA0801936
C Arimany-Nardi, H Koepsell, M Pastor-Anglada, Role of SLC22A1 polymorphic variants in drug disposition, therapeutic responses, and drug–drug interactions Pharmacogenomics Journal. ,vol. 15, pp. 473- 487 ,(2015) , 10.1038/TPJ.2015.78
Magnus Ingelman-Sundberg, Pharmacogenomic Biomarkers for Prediction of Severe Adverse Drug Reactions The New England Journal of Medicine. ,vol. 358, pp. 637- 639 ,(2008) , 10.1056/NEJME0708842
Matthew R Nelson, Daniel Wegmann, Margaret G Ehm, Darren Kessner, Pamela St. Jean, Claudio Verzilli, Judong Shen, Zhengzheng Tang, Silviu-Alin Bacanu, Dana Fraser, Liling Warren, Jennifer Aponte, Matthew Zawistowski, Xiao Liu, Hao Zhang, Yong Zhang, Jun Li, Yun Li, Li Li, Peter Woollard, Simon Topp, Matthew D Hall, Keith Nangle, Jun Wang, Gonçalo Abecasis, Lon R Cardon, Sebastian Zöllner, John C Whittaker, Stephanie L Chissoe, John Novembre, Vincent Mooser, None, An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People Science. ,vol. 337, pp. 100- 104 ,(2012) , 10.1126/SCIENCE.1217876
Michael J. Bamshad, Joshua M. Akey, , , , Jacob A. Tennessen, Abigail W. Bigham, Timothy D. O’Connor, Wenqing Fu, Eimear E. Kenny, Simon Gravel, Sean McGee, Ron Do, Xiaoming Liu, Goo Jun, Hyun Min Kang, Daniel Jordan, Suzanne M. Leal, Stacey Gabriel, Mark J. Rieder, Goncalo Abecasis, David Altshuler, Deborah A. Nickerson, Eric Boerwinkle, Shamil Sunyaev, Carlos D. Bustamante, Evolution and functional impact of rare coding variation from deep sequencing of human exomes Science. ,vol. 337, pp. 64- 69 ,(2012) , 10.1126/SCIENCE.1219240
K Pussegoda, CJ Ross, H Visscher, M Yazdanpanah, B Brooks, SR Rassekh, YF Zada, M‐P Dubé, BC Carleton, MR Hayden, CPNDS Consortium, Replication of TPMT and ABCC3 Genetic Variants Highly Associated With Cisplatin-Induced Hearing Loss in Children Clinical Pharmacology & Therapeutics. ,vol. 94, pp. 243- 251 ,(2013) , 10.1038/CLPT.2013.80
L. B. Ramsey, G. H. Bruun, W. Yang, L. R. Trevino, S. Vattathil, P. Scheet, C. Cheng, G. L. Rosner, K. M. Giacomini, Y. Fan, A. Sparreboom, T. S. Mikkelsen, T. J. Corydon, C.-H. Pui, W. E. Evans, M. V. Relling, Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition Genome Research. ,vol. 22, pp. 1- 8 ,(2012) , 10.1101/GR.129668.111