23,508 results match your criteria Pharmacogenomics [Journal]


CellMinerCDB for Integrative Cross-Database Genomics and Pharmacogenomics Analyses of Cancer Cell Lines.

iScience 2018 Nov 30. Epub 2018 Nov 30.

Developmental Therapeutics Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

CellMinerCDB provides a web-based resource (https://discover.nci.nih. Read More

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November 2018

A population pharmacokinetic model to predict the individual starting dose of tacrolimus in adult renal transplant recipients.

Br J Clin Pharmacol 2018 Dec 14. Epub 2018 Dec 14.

Department of Hospital Pharmacy, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

Aims: The aims of this study were to describe the pharmacokinetics of tacrolimus immediately after kidney transplantation, and to develop a clinical tool for selecting the best starting dose for each patient.

Methods: Data on tacrolimus exposure were collected for the first three months following renal transplantation. A population pharmacokinetic analysis was conducted using nonlinear mixed-effects modeling (NONMEM). Read More

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December 2018

DPYD, TYMS and MTHFR Genes Polymorphism Frequencies in a Series of Turkish Colorectal Cancer Patients.

J Pers Med 2018 Dec 13;8(4). Epub 2018 Dec 13.

Personalized Medicine and Pharmacogenomics/Genomics Research Centre-BIFAGEM, Izmir 35350, Turkey..

Fluoropyrimidine-based chemotherapy is extensively used for the treatment of solid cancers, including colorectal cancer. However, fluoropyrimidine-driven toxicities are a major problem in the management of the disease. The grade and type of the toxicities depend on demographic factors, but substantial inter-individual variation in fluoropyrimidine-related toxicity is partly explained by genetic factors. Read More

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December 2018
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The exploration of novel Alzheimer's therapeutic agents from the pool of FDA approved medicines using drug repositioning, enzyme inhibition and kinetic mechanism approaches.

Biomed Pharmacother 2019 Jan 3;109:2513-2526. Epub 2018 Dec 3.

College of Natural Science, Department of Biological Sciences, Kongju National University, Gongju, 32588, South Korea. Electronic address:

Novel drug development is onerous, time consuming and overpriced process with particularly low success and relatively high enfeebling rates. To overcome this burden, drug repositioning approach is being used to predict the possible therapeutic effects of FDA approved drugs in different diseases. Herein, we designed a computational and enzyme inhibitory mechanistic approach to fetch the promising drugs from the pool of FDA approved drugs against AD. Read More

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January 2019

An introduction to the role of immunology in medical anthropology and molecular epidemiology.

Biomed Pharmacother 2019 Jan 28;109:2203-2209. Epub 2018 Nov 28.

Research Office for the History of Persian Medicine, Lorestan University of Medical Sciences, Khorramabad, Iran; Department of Anatomical Sciences, Lorestan University of Medical Sciences, Khorramabad, Iran. Electronic address:

Medical anthropology is a multi-disciplinary approach to the medical sciences and humanities. Immunology is of the basic medical sciences dealing with anthropology as a science which involves in recognition of self and non-self. We performed this review paper to introduce the role of immunology in medical anthropology and molecular epidemiology. Read More

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January 2019

Pharmacogenomic assessment of herbal drugs in affective disorders.

Biomed Pharmacother 2019 Jan 6;109:1148-1162. Epub 2018 Nov 6.

Sunandan Divatia School of Science, NMIMS (Deemed-to-be University), Vile Parle (W), Mumbai, 400 056, Maharashtra, India. Electronic address:

Anxiety and depression, the most prevalent psychiatric disorders are co-morbid in nature affecting several people across the world. There is an increase in demand for complementary and alternative medicines, specifically herbal botanicals due to various side effects exhibited by conventional drugs. Herbal drugs mentioned in traditional medicines, face acceptance issues by the medical community due to lack of scientific data regarding their neurochemical pathways. Read More

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January 2019
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Impact of genetic variation on pravastatin systemic exposure in pediatric hypercholesterolemia.

Clin Pharmacol Ther 2018 Dec 14. Epub 2018 Dec 14.

Division of Clinical Pharmacology, Medical Toxicology and Therapeutic Innovation, Children's Mercy, Kansas City, MO.

This study investigated the impact of SLCO1B1 genotype on pravastatin systemic exposure in hypercholesterolemic children and adolescents. Participants (8-20 years) with at least one allelic variant of SLCO1B1 c.521T>C (521TC, n=15; 521CC, n=2) and wild type controls (521TT, n=15) completed a single oral dose pharmacokinetic study. Read More

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December 2018

Neuronal cell adhesion molecule regulating neural systems underlying addiction.

Neuropsychopharmacol Rep 2018 Dec 13. Epub 2018 Dec 13.

Department of Biology, William Paterson University, Wayne, New Jersey.

Aims: The human NRCAM gene is associated with polysubstance use. Nrcam knockout mice do not acquire a preference for addictive substances. We aimed to elucidate the role of Nrcam in specific neural circuits underlying congenital preference for substances and the acquisition of addiction. Read More

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December 2018

Pharmacogenetics and prediction of adverse events in prescription opioid use disorder patients.

Basic Clin Pharmacol Toxicol 2018 Oct 29. Epub 2018 Oct 29.

Neuropharmacology on Pain (NED), Alicante Institute for Health and Biomedical Research (ISABIAL-FISABIO Foundation), Alicante, Spain.

The threats involved in the long-term opioid treatment of chronic non-cancer pain (CNCP) have increased notably. Strategies to identify at-risk patients are important because there is no clear evidence showing which screening or deprescription programmes are appropriate. Our aim was to evaluate the evidence provided by pharmacogenetics applied to predict an analgesic toxicity profile in prescription opioid use disorder (POUD) patients participating in an opioid deprescription programme. Read More

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October 2018

Clinical Features Related to Statin-Associated Muscle Symptoms.

Muscle Nerve 2018 Dec 13. Epub 2018 Dec 13.

Departments of Pediatrics, Neurology, and Pathology & Anatomical Sciences, University at Buffalo, Buffalo, NY, 14214, USA.

Introduction: Statins reduce cardiovascular disease risk and are generally well-tolerated, yet up to 0.5% of statin-treated patients develop incapacitating muscle symptoms including rhabdomyolysis. Our objective was to identify clinical factors related to statin-associated muscle symptoms (SAMS). Read More

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December 2018
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Beta 1, Beta 2 and Beta 3 Adrenergic Receptor Gene Polymorphisms in a Southeastern European Population.

Front Genet 2018 28;9:560. Epub 2018 Nov 28.

Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, School of Health Sciences, National and Kapodistrian University of Athens, Zografou, Greece.

Genetic polymorphisms in β-, β- and β-adrenergic receptors (β-ARs) have been associated with chronic non-communicable disorders, such as cardiovascular diseases, asthma, chronic obstructive pulmonary disease (COPD) and obesity, as well as β-agonists and antagonists response and toxicity. The purpose of this study was to determine the frequency distribution of genetic variants Ser49Gly and Arg389Gly, variants Gly16Arg and Gln27Glu, variant Trp64Arg in a Southeastern European Caucasian (SEC) population sample and to establish a comparison with existing data from other human populations. A sample of 431 men and 590 women volunteered to participate in this genotyping analysis after anonymization and de-identification. Read More

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November 2018

Genomic Interventions in Medicine.

Bioinform Biol Insights 2018 3;12:1177932218816100. Epub 2018 Dec 3.

Department of Biological Sciences, Covenant University, Ota, Nigeria.

Lately, the term "genomics" has become ubiquitous in many scientific articles. It is a rapidly growing aspect of the biomedical sciences that studies the genome. The human genome contains a torrent of information that gives clues about human origin, evolution, biological function, and diseases. Read More

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December 2018
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Author Correction: New insight for pharmacogenomics studies from the transcriptional analysis of two large-scale cancer cell line panels.

Sci Rep 2018 Dec 13;8(1):17945. Epub 2018 Dec 13.

Residual Tumor & Response to Treatment Laboratory (RT2Lab), PSL Research University, Translational Research Department, F-75248, Paris, France.

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper. Read More

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December 2018

The Use of Codeine and Tramadol in the Pediatric Population-What is the Verdict Now?

J Pediatr Health Care 2019 Jan;33(1):117-123

Codeine and tramadol are opioid analgesics approved for the management of pain in the United States. Both agents are metabolized in the liver to active compounds via the cytochrome P450 2D6 enzyme. Case reports of pediatric patients with overactive CYP2D6 enzymes have been reported. Read More

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January 2019
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The 9th Santorini Conference: Systems Medicine, Personalised Health and Therapy. "The Odyssey from Hope to Practice", Santorini, Greece, 30 September⁻3 October 2018.

J Pers Med 2018 Dec 12;8(4). Epub 2018 Dec 12.

PRAHealthSciences, Salt Lake City, UT 84124, USA.

The 9th traditional biannual conference on Systems Medicine, Personalised Health & Therapy-"The Odyssey from Hope to Practice", inspired by the Greek mythology, was a call to search for practical solutions in cardio-metabolic diseases and cancer, to resolve and overcome the obstacles in modern medicine by creating more interactions among disciplines, as well as between academic and industrial research, directed towards an effective 'roadmap' for personalised health and therapy. The 9th Santorini Conference, under the Presidency of Sofia Siest, the director of the INSERM U1122; IGE-PCV (www.u1122. Read More

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December 2018

Use of Germline Genetic Variability for Prediction of Chemoresistance and Prognosis of Breast Cancer Patients.

Cancers (Basel) 2018 Dec 12;10(12). Epub 2018 Dec 12.

Laboratory of Pharmacogenomics, Biomedical Center, Faculty of Medicine in Pilsen, Charles University, 323 00 Pilsen, Czech Republic.

The aim of our study was to set up a panel for targeted sequencing of chemoresistance genes and the main transcription factors driving their expression and to evaluate their predictive and prognostic value in breast cancer patients. Coding and regulatory regions of 509 genes, selected from PharmGKB and Phenopedia, were sequenced using massive parallel sequencing in blood DNA from 105 breast cancer patients in the testing phase. In total, 18,245 variants were identified of which 2565 were novel variants (without rs number in dbSNP build 150) in the testing phase. Read More

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December 2018

Silencing Heat Shock Protein 27 Inhibits the Progression and Metastasis of Colorectal Cancer (CRC) by Maintaining the Stability of Stromal Interaction Molecule 1 (STIM1) Proteins.

Cells 2018 Dec 10;7(12). Epub 2018 Dec 10.

Cancer Research Center and Translational Laboratory, Department of Medical Research, Taipei Medical University Hospital, Taipei Medical University, Taipei 110, Taiwan.

The incidence of colorectal cancer (CRC) has significantly increased in recent decades, and this disease has become an important health issue worldwide. Currently, there is no useful prognostic or diagnostic biomarker for CRC. Heat shock protein 27 (HSP27) is a chaperone that interacts with many proteins. Read More

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December 2018

Corrected QT Interval Prolongation in Psychopharmacological Treatment and Its Modulation by Genetic Variation.

Neuropsychobiology 2018 Dec 13:1-6. Epub 2018 Dec 13.

Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna,

Several antipsychotics and antidepressants have been associated with electrocardiogram alterations, the most clinically relevant of which is the heart rate-corrected QT interval (QTc) prolongation, a risk factor for sudden cardiac death. Genetic variants influence drug-induced QTc prolongation and can provide valuable information for precision medicine. The effect of genetic variants on QTc prolongation as well as the possible interaction between polymorphisms and risk medications in determining QTc prolongation were investigated. Read More

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December 2018

Anticancer effects of alloxanthoxyletin and fatty acids esters - In vitro study on cancer HTB-140 and A549 cells.

Biomed Pharmacother 2018 Dec 10;110:618-630. Epub 2018 Dec 10.

Department of Biochemistry and Pharmacogenomics, Faculty of Pharmacy, Medical University of Warsaw, 1 Banacha Street, 02-097, Warsaw, Poland; Laboratory of Centre for Preclinical Research, Medical University of Warsaw, 1 Banacha Street, 02-097, Warsaw, Poland.

Alloxanthoxyletin, a natural occurring pyranocoumarin isolated from a number of plant sources, such as family of Rutaceae, and its synthetic derivatives show cytotoxic and antitumor activities. In the present study new eleven esters of alloxanthoxyletin and fatty acids were synthesized and evaluated for their anticancer toxicity. The structures of the compounds were confirmed by Proton Nuclear Magnetic Resonance (H NMR), Carbon-13 Nuclear Magnetic Resonance (C NMR) and High Resolution Mass Spectrometry (HRMS) analyses. Read More

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December 2018

A cost analysis of upfront DPYD genotype-guided dose individualisation in fluoropyrimidine-based anticancer therapy.

Eur J Cancer 2018 Dec 10;107:60-67. Epub 2018 Dec 10.

Division of Pharmacology, The Netherlands Cancer Institute, Amsterdam, the Netherlands; Department of Clinical Pharmacology, Division of Medical Oncology, The Netherlands Cancer Institute, Amsterdam, the Netherlands; Division of Pharmacoepidemiology and Clinical Pharmacology, Department of Pharmaceutical Sciences, Faculty of Science, Utrecht University, Utrecht, the Netherlands.

Background: Fluoropyrimidine therapy including capecitabine or 5-fluorouracil can result in severe treatment-related toxicity in up to 30% of patients. Toxicity is often related to reduced activity of dihydropyrimidine dehydrogenase, the main metabolic fluoropyrimidine enzyme, primarily caused by genetic DPYD polymorphisms. In a large prospective study, it was concluded that upfront DPYD-guided dose individualisation is able to improve safety of fluoropyrimidine-based therapy. Read More

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December 2018

NF1 regulates apoptosis in ovarian cancer cells by targeting MCL1 via miR-142-5p.

Pharmacogenomics 2018 Dec 13. Epub 2018 Dec 13.

Department of Biological Sciences & Technology, School of Life Sciences, Sun Yat-sen University, Guangzhou, PR China.

Aim: Neurofibromatosis type 1 (NF1) loss confers chemoresistance in multiple cancers. However, the etiology remains largely unknown. Our study aimed to scrutinize the role of NF1 in chemoresistant ovarian cancer and its underlying mechanism. Read More

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December 2018

A Cell-Based Method for Identification of Chemotherapy Resistance Cancer Genes.

Methods Mol Biol 2019 ;1907:83-90

Department of Obstetrics, Gynecology and Women's Health, University of Minnesota, Minneapolis, MN, USA.

Here we describe a method for identifying genes and genetic pathways responsible for chemoresistance in cancer cells. The method is based on generation and characterization of matched pairs of chemotherapy-sensitive/chemotherapy-resistant cancer cell lines. In this protocol we are using endometrial cancer cell lines treated with carboplatin and paclitaxel, which are first-line chemotherapies for gynecologic malignancies. Read More

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January 2019

CYP2D6-inhibiting medication use and inherited CYP2D6 variation in relation to adverse breast cancer outcomes after tamoxifen therapy.

Cancer Causes Control 2018 Dec 12. Epub 2018 Dec 12.

University of Washington, Seattle, WA, USA.

Purpose: Tamoxifen is widely used to reduce the risk of breast cancer (BC) recurrence and extend disease-free survival among women with estrogen-sensitive breast cancers. Tamoxifen efficacy is thought to be attributable to its active metabolite, which is formed through a reaction catalyzed by the P450 enzyme, CYP2D6. Inhibition of tamoxifen metabolism as a result of germline genetic variation and/or use of CYP2D6-inhibiting medications ("inhibitors") is hypothesized to increase the risk of adverse BC outcomes among women taking tamoxifen. Read More

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December 2018

Metformin action through the microbiome and bile acids.

Authors:
Grace L Guo Wen Xie

Nat Med 2018 Dec;24(12):1789-1790

Center for Pharmacogenetics and Department of Pharmaceutical Sciences, University of Pittsburgh, Pittsburgh, PA, USA.

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December 2018

Adequate evidence to support improved outcomes in depression by primary care physicians compared to psychiatrists when using combinatorial pharmacogenomics.

J Psychiatr Res 2018 Nov 15. Epub 2018 Nov 15.

Neurogenetics Section, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, Toronto, ON, Canada; Molecular Brain Science Research Department, Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, Toronto, ON, Canada; Department of Psychiatry, University of Toronto, Toronto, ON, Canada; Institute of Medical Science, University of Toronto, Toronto, ON, Canada. Electronic address:

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November 2018

Biomarkers and pathways of chemoresistance and chemosensitivity for personalized treatment of pancreatic adenocarcinoma.

Pharmacogenomics 2018 Dec 12. Epub 2018 Dec 12.

Department of Oncology, Faculty of Medicine & Dentistry, Palacky University Olomouc, University Hospital Olomouc, Czech Republic.

Pancreatic carcinoma is usually diagnosed late when treatment options are limited and is considered a chemo-resistant malignancy. However, early stage, good performance status and specific patient subgroup are thought to have a more favorable prognosis. Search for novel molecular biomarkers, which could predict treatment resistance, represents a major opportunity, but also a challenge in further research. Read More

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December 2018

Down-Regulation of APTR and it's Diagnostic Value in Papillary and Anaplastic Thyroid Cancer.

Pathol Oncol Res 2018 Dec 11. Epub 2018 Dec 11.

Department of General Surgery, Department of Hepatopancreatobiliary Surgery, Zhengzhou Central Hospital Affiliated to Zhengzhou University, Tongbai Road #195, Zhengzhou, 450007, Henan, China.

APTR has been employed as a potential biomarker attributing to it was involved in carcinogenesis and malignancy's progression. However, the roles of APTR in papillary thyroid cancer (PTC) and anaplastic thyroid cancer (ATC) are unclear. In the present study, we aimed to explore the relative expression of APTR in PTC and ATC tissues and the relation between APTR expression and PTC clinicopathological features. Read More

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December 2018

The influence of telmisartan on metformin pharmacokinetics and pharmacodynamics.

J Pharmacol Sci 2018 Nov 25. Epub 2018 Nov 25.

Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha, Hunan, China; Hunan Key Laboratory of Pharmacogenetics, Changsha, Hunan, China. Electronic address:

Metformin is the most widely used drug among type 2 diabetes mellitus patients. However, drug interaction on metformin will influence its glucose-lowering effect or increase its side effect of lactic acidosis. In this study, a randomized, two-stage, crossover study was conducted to unveil the potential drug interaction between metformin and the anti-hypertension drug, telmisartan. Read More

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November 2018
2.360 Impact Factor

An LC-MS/MS method for quantification of abiraterone, its active metabolites D(4)-abiraterone (D4A) and 5α-abiraterone, and their inactive glucuronide derivatives.

J Chromatogr B Analyt Technol Biomed Life Sci 2018 Dec 4;1104:249-255. Epub 2018 Dec 4.

Pharmacogenomics Laboratory, Centre Hospitalier Universitaire (CHU) de Québec, - Université Laval Research Center and Faculty of Pharmacy, Laval University, Québec city, QC, Canada; Canada Research Chair in Pharmacogenomics, Canada. Electronic address:

Abiraterone acetate (AA) is a prodrug of abiraterone, a selective and potent steroidal cytochrome P450 17alpha- hydroxylase-17,20-lyase (CYP17A1) blocking androgen synthesis in the treatment of advanced prostate cancer. Abiraterone (Abi) is metabolized to D(4)-abiraterone (D4A) directly blocking CYP17A1 and other steroidogenic enzymes and antagonizing the androgen receptor (AR). D4A is converted by 5α-reductase to 3-keto-5α-abiraterone (5α-Abi), an AR agonist. Read More

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December 2018

Pharmacogenetics of angiotensin converting enzyme inhibitor - induced angioedema.

Clin Exp Allergy 2018 Dec 8. Epub 2018 Dec 8.

Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.

Angioedema is a rare adverse effect of the commonly used angiotensin converting enzyme inhibitors (ACEi) and is reported to occur with a prevalence of 0.1 - 0.7%. Read More

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December 2018
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Conference Report: Pharmacogenomics in Special Populations at WCP2018.

Br J Clin Pharmacol 2018 Dec 9. Epub 2018 Dec 9.

Discipline of Pharmacology, Adelaide Medical School, University of Adelaide, Adelaide, Australia.

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December 2018
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Pharmacogenetics and pharmacokinetics of CNS penetration of efavirenz and its metabolites.

J Antimicrob Chemother 2018 Dec 10. Epub 2018 Dec 10.

Division of Clinical Pharmacology, Department of Medicine, University of Cape Town, Cape Town, South Africa.

Background: There are limited data on the pharmacogenetics and pharmacokinetics of the CNS penetration of efavirenz.

Objectives: We investigated genetic polymorphisms associated with CSF concentrations of efavirenz and its metabolites and explored the relationships with neurocognitive performance.

Methods: We included 47 HIV-infected South African black adults with and without HIV-associated neurocognitive disorder on efavirenz/tenofovir/emtricitabine and collected paired plasma-CSF samples. Read More

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December 2018
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A Pharmacogenetic Study of VDR fok1 and TYMS Polymorphisms and Their Association With Glucocorticoid-Induced Osteonecrosis in Egyptian Children With Acute Lymphoblastic Leukemia.

Front Oncol 2018 23;8:541. Epub 2018 Nov 23.

Pediatric Oncology Department, Children Cancer Hospital Egypt and National Cancer Institute Cairo University, Cairo, Egypt.

Osteonecrosis is a significant toxicity resulting from the treatment of pediatric Acute Lymphoblastic Leukemia (ALL). This study aimed to investigate the relationship between vitamin D receptor fok1 (VDR fok1) and thymidylate synthase (TYMS) gene polymorphisms with the glucocorticoid (GC) induced osteonecrosis (ON) in Egyptian pediatric ALL patients. In addition, to identify the possible association of genetic polymorphisms with other factors such as gender and ALL subtypes. Read More

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November 2018
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Gene-gene and gene-environment interaction data for platinum-based chemotherapy in non-small cell lung cancer.

Sci Data 2018 Dec 11;5:180284. Epub 2018 Dec 11.

Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, P. R. China.

Gene-gene (GXG) and gene-environment (GXE) interactions play important roles in pharmacogenetics study. Simultaneously incorporating multiple single nucleotide polymorphisms (SNPs) and clinical factors is needed to explore the association of their interactions with drug response and toxicity phenotypes. We genotyped 504 SNPs in a total of 490 Chinese non-small cell lung cancer (NSCLC) patients, and the correlation of GXG and GXE interactions with platinum-based chemotherapeutic efficacy and safety were analyzed. Read More

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December 2018
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Analysis of comprehensive pharmacogenomic profiling to impact in-hospital prescribing.

Pharmacogenet Genomics 2018 Dec 6. Epub 2018 Dec 6.

Center for Personalized Therapeutics.

Introduction: In-hospital adverse medication events result in increased morbidity and mortality. Many implicated drugs carry pharmacogenomic information. We hypothesized that comprehensive pre-emptive pharmacogenomic profiling could have high relevance for in-hospital prescribing. Read More

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December 2018

Assessment of provider-perceived barriers to clinical use of pharmacogenomics during participation in an institutional implementation study.

Pharmacogenet Genomics 2018 Dec 6. Epub 2018 Dec 6.

Center for Personalized Therapeutics.

Objective: The objective of this study was to study provider attitudes of and perceived barriers to the clinical use of pharmacogenomics before and during participation in an implementation program.

Participants And Methods: From 2012 to 2017, providers were recruited. After completing semistructured interviews (SSIs) about pharmacogenomics, providers received training on and access to a clinical decision support tool housing patient-specific pharmacogenomic results. Read More

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December 2018
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Pharmacogenetics biomarkers predictive of drug pharmacodynamics as an additional tool to therapeutic drug monitoring.

Ther Drug Monit 2018 Dec 10. Epub 2018 Dec 10.

CHU Limoges, Université de Limoges, Inserm, IPPRITT, U1248, F-87000 Limoges, France.

Conventional TDM refers to the individualization of drug dosage by maintaining plasma or blood drug concentrations within a targeted therapeutic range. Accordingly, an individualized dose is proposed to the clinician according to the drug plasma or blood concentration using an a posteriori approach. Pharmacogenetics (PGx) has recently emerged as an additional tool to refine dose selection or, more interestingly to select, a priori, the first dose to administer. Read More

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December 2018

Pharmacogenomics in Parkinson's disease: which perspective for developing a personalized medicine?

Neural Regen Res 2019 Jan;14(1):75-76

Department of Biomedicine and Prevention, Section of Genetics, School of Medicine, University of Rome Tor Vergata, Rome, Italy.

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January 2019

Hepatocyte-specific Sirt6 deficiency impairs ketogenesis.

J Biol Chem 2018 Dec 10. Epub 2018 Dec 10.

Laboratory of Clinical Pharmacy and Adverse Drug Reaction, China.

Sirt6 is nicotinamide adenine dinucleotide (NAD+)-dependent deacetylase with a critical role of hepatic lipid metabolism. Ketogenesis is controlled by a signaling network of hepatic lipid metabolism. However, how Sirt6 functions in ketogenesis remains unclear. Read More

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December 2018
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MiR-204-5p promotes apoptosis and inhibits migration of osteosarcoma via targeting EBF2.

Biochimie 2018 Dec 6. Epub 2018 Dec 6.

Department of Orthopedics, The 306th Hospital of PLA, Beijing, 100101, China. Electronic address:

Osteosarcoma is one of the most malignant cancer adolescents and young adults and metastatic osteosarcoma is a huge life threat with a 5-year survival lower than 20%. However, the mechanisms through which localized osteosarcoma turned metastatic are not fully understood. Here, we studied the role of miR-204-5p in osteosarcoma and found that miR-204-5p is downregulated in both osteosarcoma patients and osteosarcoma cell lines. Read More

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December 2018

Short communication: switching immunosuppression from cyclosporine to tacrolimus in kidney transplant recipients based on CYP3A5 genotyping.

Ther Drug Monit 2018 Dec 4. Epub 2018 Dec 4.

Department of Pharmacy, Shanghai Changhai Hospital, Second Military Medical University, Shanghai (200433), China.

Background: Kidney transplant recipients on long-term cyclosporine (CsA) therapy may develop multiple adverse drug events, and immunosuppression conversion from CsA to tacrolimus (Tac) is an option. Genetic variations, especially cytochrome P450 (CYP) 3A5*3 affects Tac dosing. However, little information is available to guide the conversion with regards to patients' pharmacogenomics. Read More

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December 2018
3 Reads

CYP2D6 haplotypes with enhancer single-nucleotide polymorphism rs5758550 and rs16947 (*2 allele): implications for CYP2D6 genotyping panels.

Pharmacogenet Genomics 2018 Nov 28. Epub 2018 Nov 28.

Department of Cancer Biology and Genetics, Center for Pharmacogenomics, College of Medicine, The Ohio State University, Columbus, Ohio.

Introduction: CYP2D6 metabolizes ∼25% of all clinically used drugs, with numerous genetic polymorphisms affecting enzyme activity and drug response. Clinical utility of current CYP2D6 genotyping is partially compromised the unresolved complex haplotype structure of the CYP2D6 locus. We have identified a distal enhancer single-nucleotide polymorphism rs5758550 that robustly increases CYP2D6 expression, whereas rs16947 (CYP2D6*2), previously considered inert, reduces correct mRNA splicing and expression, thereby affecting presumed activity of other alleles on the *2 haplotype. Read More

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November 2018
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Digital versatile discs as platforms for multiplexed genotyping based on selective ligation and universal microarray detection.

Analyst 2018 Dec 6. Epub 2018 Dec 6.

Departamento de Química, Universitat Politècnica de València, Camino de Vera s/n, E46022, Valencia, Spain. and Instituto Interuniversitario de Investigación de Reconocimiento Molecular y Desarrollo Tecnológico (IDM), Universitat Politècnica de València-Universitat de València, Valencia, Spain and Unidad Mixta UPV-La Fe, Nanomedicine and Sensors, IIS La Fe, Valencia, Spain.

The development of a high-performance assay readout using integrated detectors is a current challenge in the implementation of DNA tests in diagnostic laboratories, particularly for supporting pharmacogenetic tests. A method for allelic discrimination, associated with single nucleotide polymorphisms (SNPs), is presented. Genomic DNA is extracted from blood and buccal swab samples. Read More

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December 2018
3 Reads

Pharmacogenetic tests and depressive symptom remission: a meta-analysis of randomized controlled trials.

Pharmacogenomics 2019 Jan 6;20(1):37-47. Epub 2018 Dec 6.

Department of Psychiatry & Behavioral Sciences, Emory University School of Medicine, Atlanta, GA 30322, USA.

Aim: To conducted a systematic review and meta-analysis of prospective, randomized controlled trials (RCTs) that examined pharmacogenetic-guided decision support tools (DSTs) relevant to depressive symptom remission in major depressive disorder (MDD).

Patients & Methods: Random-effects meta-analysis was performed on RCTs that examined the effect of DSTs on remission rates in MDD. RCT quality was assessed using the Cochrane Collaboration Criteria. Read More

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January 2019
2 Reads

Prevalence of pharmacogenomic variants affecting the efficacy of clopidogrel therapy in the Hispanic Community Health Study/Study of Latinos cohort.

Pharmacogenomics 2018 Dec 6. Epub 2018 Dec 6.

Department of Epidemiology & Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

Purpose: Although clopidogrel is the most widely used oral P2Y12 receptor antagonist, up to 10% of acute coronary syndrome patients treated with clopidogrel will experience a recurrent myocardial infarction and 2-3% will experience stent thrombosis within 1 year. The purpose of this research is to describe the prevalence of pharmacogene variants associated with clopidogrel responsiveness (CYP2C19, B4GALT2, ABCB1, PON1, CES1 and P2RY12) in Hispanic/Latino patients of diverse backgrounds.

Methods: Minor allele frequencies of nine variants from participants of Hispanic Community Health Study/Study of Latinos were compared between subpopulations as well as to continental ancestry references using z-test for independent proportions. Read More

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December 2018
4 Reads

Patients carrying CYP2C8*3 have shorter systemic paclitaxel exposure.

Pharmacogenomics 2018 Dec 6. Epub 2018 Dec 6.

Department of Clinical Pharmacy, University of Michigan College of Pharmacy, Ann Arbor, MI 48109, USA.

Aim:  First, evaluate if patients carrying putatively diminished activity CYP2C8 genotype have longer paclitaxel exposure (e.g., time above threshold concentration of 0. Read More

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December 2018
3 Reads

Prolonged clonazepam-induced withdrawal symptoms in an NAT2 ultraslow acetylator.

Pharmacogenomics 2018 Dec 6. Epub 2018 Dec 6.

Department of Pediatrics, USF Health South Tampa Center for Advanced Healthcare, Tampa, FL 33606, USA.

Clonazepam undergoes nitroreduction to 7-amino-clonazepam via CYP3A4/5, followed by acetylation to 7-acetamido-clonazepam via N-acetyltransferase-2 (NAT2) enzyme. While no pharmacological activity is attributed to the metabolites of clonazepam, 7-amino-clonazepam has some affinity for the benzodiazepine receptor as a partial agonist for the gamma aminobutyric acid-A receptor and can compete with clonazepam. Interindividual variability in the incidence of adverse events in patients may, in part, be attributable to differences in clonazepam metabolism. Read More

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December 2018
5 Reads

The emerging role of liquid biopsy in diagnosis, prognosis and treatment monitoring of pancreatic cancer.

Pharmacogenomics 2018 Dec 6. Epub 2018 Dec 6.

Unit of Clinical Pharmacology & Pharmacogenetics, Department of Clinical & Experimental Medicine, University of Pisa, Italy.

Circulating tumor DNA, circulating tumor cells and tumor-related exosomes may offer new opportunities to provide insights into the biological and clinical characteristics of a neoplastic disease. They represent alternative routes for diagnostic and prognostic purposes, and for predicting and longitudinally monitoring response to treatment and disease progression. Hence, circulating biomarkers represent promising noninvasive tools in the scenario of pancreatic cancer, where neither molecular nor clinical predictors of treatment benefit have been identified yet. Read More

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December 2018
1 Read

PACE Forward-Making Pharmacogenomics Testing Available for Real-Life Clinical Utility.

Clin Pharmacol Ther 2018 Dec 5. Epub 2018 Dec 5.

1Center for Individualized Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

Although pharmacogenomics (PGx) offers the promise of ensuring the right patient receives the right medication at the right dose the first time, gene-drug interaction data have yet to be seamlessly integrated into patients' health records. PGx testing that is preemptive, adaptable, current, and executable (PACE) overcomes the human and technological barriers to successful implementation, thus capitalizing on the affordable cost of such testing and clinical practice guidelines at the point of prescription ordering. Read More

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December 2018
3 Reads