The genetics of drug efficacy: opportunities and challenges

[1]  John Appleby,et al.  A Terrible Beauty: A short history of NICE the National Institute for Health and Care Excellence , 2017 .

[2]  G. Lippi,et al.  Statins for Primary Prevention of Cardiovascular Disease. , 2017, Trends in pharmacological sciences.

[3]  A. Sokolenko,et al.  High response rates to neoadjuvant platinum-based therapy in ovarian cancer patients carrying germ-line BRCA mutation. , 2015, Cancer letters.

[4]  T. Johnson,et al.  Different effects of the BIM deletion polymorphism on treatment of solid tumors by the tyrosine kinase inhibitors (TKI) pazopanib, sunitinib, and lapatinib. , 2015, Annals of oncology : official journal of the European Society for Medical Oncology.

[5]  J. Nishimura [Genetic variants in C5 and poor response to eculizumab]. , 2015, [Rinsho ketsueki] The Japanese journal of clinical hematology.

[6]  Dieter Lang,et al.  Predicting drug metabolism: experiment and/or computation? , 2015, Nature Reviews Drug Discovery.

[7]  田原 康玄,et al.  生活習慣病とgenome-wide association study , 2015 .

[8]  M. Ingelman-Sundberg,et al.  Pharmacogenomic information in drug labels: European Medicines Agency perspective , 2015, The Pharmacogenomics Journal.

[9]  J. Whittaker,et al.  IL8 polymorphisms and overall survival in pazopanib- or sunitinib-treated patients with renal cell carcinoma , 2015, British Journal of Cancer.

[10]  Pasi Soininen,et al.  Quantitative serum nuclear magnetic resonance metabolomics in cardiovascular epidemiology and genetics. , 2015, Circulation. Cardiovascular genetics.

[11]  Cheng Cheng,et al.  Genomic architecture of pharmacological efficacy and adverse events. , 2014, Pharmacogenomics.

[12]  S. Dangi‐Garimella Payers Evaluate the Clinical Utility of Diagnostic Tests , 2014 .

[13]  Matti Pirinen,et al.  Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins , 2014, Nature Communications.

[14]  P. Zhu,et al.  The BIM deletion polymorphism cannot account for intrinsic TKI resistance of Chinese individuals with chronic myeloid leukemia , 2014, Nature Medicine.

[15]  I. Gelissen,et al.  The pharmacogenomics of statins. , 2014, Pharmacological research.

[16]  A. Hillmer,et al.  Reply: The BIM deletion polymorphism cannot account for intrinsic TKI resistance of Chinese individuals with chronic myeloid leukemia , 2014, Nature Network Boston.

[17]  E. Eskin,et al.  Integrating Functional Data to Prioritize Causal Variants in Statistical Fine-Mapping Studies , 2014, PLoS genetics.

[18]  P. Deloukas,et al.  Supplementary Figure 2 , 2014 .

[19]  David Colquhoun,et al.  An investigation of the false discovery rate and the misinterpretation of p-values , 2014, Royal Society Open Science.

[20]  D. Matei,et al.  Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial. , 2014, The Lancet. Oncology.

[21]  Akshay Bhat,et al.  Clinical proteomic biomarkers: relevant issues on study design & technical considerations in biomarker development , 2014, Clinical and Translational Medicine.

[22]  D. Nickerson,et al.  Characterization of Statin Dose Response in Electronic Medical Records , 2014, Clinical pharmacology and therapeutics.

[23]  N. Cox,et al.  Clinical drug response can be predicted using baseline gene expression levels and in vitro drug sensitivity in cell lines , 2014, Genome Biology.

[24]  Janet Woodcock,et al.  Pharmacogenetics and coumarin dosing--recalibrating expectations. , 2013, The New England journal of medicine.

[25]  N. Eriksson,et al.  A randomized trial of genotype-guided dosing of warfarin. , 2013, The New England journal of medicine.

[26]  Peggy Hall,et al.  The NHGRI GWAS Catalog, a curated resource of SNP-trait associations , 2013, Nucleic Acids Res..

[27]  Sarah A. Gagliano,et al.  A Bayesian Method to Incorporate Hundreds of Functional Characteristics with Association Evidence to Improve Variant Prioritization , 2013, bioRxiv.

[28]  A. Morris,et al.  Robust association of the LPA locus with low-density lipoprotein cholesterol lowering response to statin treatment in a meta-analysis of 30 467 individuals from both randomized control trials and observational studies and association with coronary artery disease outcome during statin treatment , 2013, Pharmacogenetics and genomics.

[29]  Johannes B Reitsma,et al.  Beyond diagnostic accuracy: the clinical utility of diagnostic tests. , 2013, Clinical chemistry.

[30]  M. Beckmann,et al.  CYP2D6 Genotype and Adjuvant Tamoxifen: Meta-Analysis of Heterogeneous Study Populations , 2013, Clinical pharmacology and therapeutics.

[31]  T. Moorhead,et al.  Towards the identification of imaging biomarkers in schizophrenia, using multivariate pattern classification at a single-subject level , 2013, NeuroImage: Clinical.

[32]  Yusuke Nakamura,et al.  Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study , 2013, The Lancet.

[33]  John P A Ioannidis,et al.  To replicate or not to replicate: the case of pharmacogenetic studies: Have pharmacogenomics failed, or do they just need larger-scale evidence and more replication? , 2013, Circulation. Cardiovascular genetics.

[34]  D. Altshuler,et al.  Validating therapeutic targets through human genetics , 2013, Nature Reviews Drug Discovery.

[35]  S. Tishkoff,et al.  Higher frequency of genetic variants conferring increased risk for ADRs for commonly used drugs treating cancer, AIDS and tuberculosis in persons of African descent , 2013, The Pharmacogenomics Journal.

[36]  Y. Li,et al.  Targeted blockade of interleukin-8 abrogates its promotion of cervical cancer growth and metastasis , 2012, Molecular and Cellular Biochemistry.

[37]  T. Fleming,et al.  Biomarkers and surrogate endpoints in clinical trials , 2012, Statistics in medicine.

[38]  J. George,et al.  BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. , 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[39]  J. Kelsoe Principles of Pharmacogenetics and Pharmacogenomics , 2012 .

[40]  Edward O'Brien,et al.  Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial , 2012, The Lancet.

[41]  M. Caulfield,et al.  Genome-wide association study of genetic determinants of LDL-c response to atorvastatin therapy: importance of Lp(a) [S] , 2012, Journal of Lipid Research.

[42]  B. Horne,et al.  A Randomized and Clinical Effectiveness Trial Comparing Two Pharmacogenetic Algorithms and Standard Care for Individualizing Warfarin Dosing (CoumaGen-II) , 2012, Circulation.

[43]  P. Ridker,et al.  Genetic Determinants of Statin-Induced Low-Density Lipoprotein Cholesterol Reduction: The Justification for the Use of Statins in Prevention: An Intervention Trial Evaluating Rosuvastatin (JUPITER) Trial , 2012, Circulation. Cardiovascular genetics.

[44]  R. Collins What makes UK Biobank special? , 2012, The Lancet.

[45]  D. Carling,et al.  The role of ATM in response to metformin treatment and activation of AMPK. , 2012, Nature genetics.

[46]  M. Nöthen,et al.  A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer , 2012, Nature Medicine.

[47]  Melissa A. Basford,et al.  Predicting Clopidogrel Response Using DNA Samples Linked to an Electronic Health Record , 2012, Clinical pharmacology and therapeutics.

[48]  Douglas F. Easton,et al.  Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. , 2012, JAMA.

[49]  P. Visscher,et al.  Five years of GWAS discovery. , 2012, American journal of human genetics.

[50]  Mindy I. Davis,et al.  Comprehensive analysis of kinase inhibitor selectivity , 2011, Nature Biotechnology.

[51]  M. Climent,et al.  Single nucleotide polymorphism associations with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-line sunitinib: a multicentre, observational, prospective study. , 2011, The Lancet. Oncology.

[52]  S. Digumarthy,et al.  BIM expression in treatment-naive cancers predicts responsiveness to kinase inhibitors. , 2011, Cancer discovery.

[53]  P. Ridker,et al.  Race, ethnicity, and the efficacy of rosuvastatin in primary prevention: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. , 2011, American heart journal.

[54]  Gonçalo R. Abecasis,et al.  Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability , 2011, PLoS genetics.

[55]  A. Snapir,et al.  Current Practices for DNA Sample Collection and Storage in the Pharmaceutical Industry, and Potential Areas for Harmonization: Perspective of the I‐PWG , 2011, Clinical pharmacology and therapeutics.

[56]  D. Roden,et al.  The Emerging Role of Electronic Medical Records in Pharmacogenomics , 2011, Clinical pharmacology and therapeutics.

[57]  C. Freeman,et al.  Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes , 2010, Nature Genetics.

[58]  P. Madsen,et al.  Sort1, encoded by the cardiovascular risk locus 1p13.3, is a regulator of hepatic lipoprotein export. , 2010, Cell metabolism.

[59]  Ayellet V. Segrè,et al.  Hundreds of variants clustered in genomic loci and biological pathways affect human height , 2010, Nature.

[60]  Olle Melander,et al.  From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus , 2010, Nature.

[61]  Joel Greshock,et al.  Molecular target class is predictive of in vitro response profile. , 2010, Cancer research.

[62]  M. Stephens,et al.  Bayesian statistical methods for genetic association studies , 2009, Nature Reviews Genetics.

[63]  Jacques Fellay,et al.  Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance , 2009, Nature.

[64]  J. O’Connell,et al.  Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy. , 2009, JAMA.

[65]  R. Altman,et al.  Estimation of the warfarin dose with clinical and pharmacogenetic data. , 2009, The New England journal of medicine.

[66]  Norman Fost,et al.  Community consultation and communication for a population‐based DNA biobank: The Marshfield clinic personalized medicine research project , 2008, American journal of medical genetics. Part A.

[67]  T. Lehtimäki,et al.  Pharmacogenetics of apolipoprotein E gene during lipid-lowering therapy: lipid levels and prevention of coronary heart disease. , 2008, Pharmacogenomics.

[68]  D. Roden,et al.  Development of a Large‐Scale De‐Identified DNA Biobank to Enable Personalized Medicine , 2008, Clinical pharmacology and therapeutics.

[69]  M. McCarthy,et al.  Genome-wide association studies for complex traits: consensus, uncertainty and challenges , 2008, Nature Reviews Genetics.

[70]  A. Hattersley,et al.  Clinical implications of a molecular genetic classification of monogenic β-cell diabetes , 2008, Nature Clinical Practice Endocrinology &Metabolism.

[71]  S. Mallal,et al.  HLA-B*5701 screening for hypersensitivity to abacavir. , 2008, The New England journal of medicine.

[72]  S. Iturria,et al.  Common polymorphisms of CYP2C19 and CYP2C9 affect the pharmacokinetic and pharmacodynamic response to clopidogrel but not prasugrel , 2007, Journal of thrombosis and haemostasis : JTH.

[73]  F. Ashcroft,et al.  Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. , 2006, The New England journal of medicine.

[74]  William Pao,et al.  Inhibition of drug-resistant mutants of ABL, KIT, and EGF receptor kinases. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[75]  J. Ioannidis,et al.  Why Most Published Research Findings Are False , 2005, PLoS medicine.

[76]  A. Hattersley,et al.  Genetic cause of hyperglycaemia and response to treatment in diabetes , 2003, The Lancet.

[77]  A. Fedier,et al.  The effect of loss of Brca1 on the sensitivity to anticancer agents in p53-deficient cells. , 2003, International journal of oncology.

[78]  H. McLeod,et al.  Genetic basis of drug metabolism. , 2002, American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists.

[79]  Guy E. Thwaites,et al.  The Diagnosis and Management of Tuberculous Meningitis , 2002, Practical Neurology.

[80]  J. Ioannidis,et al.  Replication validity of genetic association studies , 2001, Nature Genetics.

[81]  B. Rannala,et al.  High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence. , 2001, American journal of human genetics.

[82]  A. Beresford,et al.  ADME/PK as part of a rational approach to drug discovery. , 2000, Drug discovery today.

[83]  R C Elston,et al.  Testing drug response in the presence of genetic information: sampling issues for clinical trials. , 2000, Pharmacogenetics.

[84]  J. Witte,et al.  On the relative sample size required for multiple comparisons. , 2000, Statistics in medicine.

[85]  G. Aithal,et al.  Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications , 1999, The Lancet.

[86]  M. Eichelbaum,et al.  Same incidence of adverse drug events after codeine administration irrespective of the genetically determined differences in morphine formation , 1998, Pain.

[87]  A. Motulsky Drug reactions enzymes, and biochemical genetics. , 1957, Journal of the American Medical Association.

[88]  S. Hunt,et al.  Common VKORC1 and GGCX polymorphisms associated with warfarin dose , 2005, The Pharmacogenomics Journal.

[89]  I. Alvarado,et al.  Advances in the pharmacogenomics of adverse drug reactions , 2002, The Pharmacogenomics Journal.

[90]  Mulin Jun Li,et al.  Nature Genetics Advance Online Publication a N a Ly S I S the Support of Human Genetic Evidence for Approved Drug Indications , 2022 .