17,047 results match your criteria Pharmacogenetics and Genomics [Journal]


Organic Anion Transporting Polypeptide 2B1 - More than a Glass-Full of Drug Interactions.

Pharmacol Ther 2018 Dec 14. Epub 2018 Dec 14.

University of Washington, School of Pharmacy, Department of Pharmaceutics, Seattle, WA, USA. Electronic address:

The importance of uptake transporters in determining drug disposition is increasingly appreciated. While the focus of regulatory agencies worldwide has been on the hepatic organic anion transporting polypeptides (OATPs) 1B1 and 1B3, there is another isoform of the OATP sub-family, OATP2B1, which should be considered equally relevant. Unlike the other members of the OATP sub-family, OATP2B1 is expressed in multiple organs in humans, including in the intestine and the liver. Read More

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December 2018
1 Read

Pharmacogenetics and Psychiatric Care: A Review and Commentary.

Authors:
Merlin G Butler

J Ment Health Clin Psychol 2018 16;2(2):17-24. Epub 2018 Apr 16.

Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA.

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Pharmacogenetics and Practice: Tailoring Prescribing for Safety and Effectiveness.

J Nurse Pract 2018 Nov-Dec;14(10):697-704.e1. Epub 2018 Nov 2.

Indiana University School of Medicine, Indiana, Indianapolis, IN 46202.

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November 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
2 Reads

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
1 Read

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
1 Read

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

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
1 Read

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

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
1 Read

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
1 Read

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
1 Read
2.360 Impact Factor

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
1 Read

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
1 Read

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
1 Read

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
1 Read

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
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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
1 Read

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
1 Read

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
3 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

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
2 Reads

CYP2C9*61, a rare missense variant identified in a Puerto Rican patient with low warfarin dose requirements.

Pharmacogenomics 2018 Dec 6. Epub 2018 Dec 6.

Department of Pharmaceutical Sciences, School of Pharmacy, Medical Sciences Campus, University of Puerto Rico, San Juan, PR 00936, Puerto Rico.

Warfarin continues to be the mainstay therapy for preventing thrombus formation. Although pharmacogenetic algorithms have shown higher predictability of the optimal warfarin dose and lower occurrence of bleeding episodes, they often do not include ethno-specific genetic variants relevant to non-Europeans. This case report describes a rare missense variant at exon 9 of CYP2C9 (rs202201137; c. Read More

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December 2018
2 Reads

The effect of CYP4F2, VKORC1 and CYP2C9 in influencing coumarin dose. A single patient data meta-analysis in more than 15,000 individuals.

Clin Pharmacol Ther 2018 Dec 2. Epub 2018 Dec 2.

General Medicine and Hypertension Unit, Department of Medicine, University of Verona, Italy.

The CYP4F2 gene is known to influence mean coumarin dose. The aim of the present study was to undertake a meta-analysis at individual patients' level to capture the possible effect of ethnicity, gene-gene interaction or other drugs on the association and to verify if inclusion of CYP4F2*3 variant into dosing algorithms improves the prediction of mean coumarin dose. We asked the authors of our previous meta-analysis (30 articles) and of 38 new articles retrieved by a systematic review to send us individual patients' data. Read More

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December 2018
4 Reads
7.903 Impact Factor

Standardized biogeographic grouping system for annotating populations in pharmacogenetic research.

Clin Pharmacol Ther 2018 Dec 1. Epub 2018 Dec 1.

Department of Biomedical Data Science, Stanford University, Stanford, CA, 94305, USA.

The varying frequencies of pharmacogenetic alleles between populations have important implications for the impact of these alleles in different populations. Current population grouping methods to communicate these patterns are insufficient as they are inconsistent and fail to reflect the global distribution of genetic variability. To facilitate and standardize the reporting of variability in pharmacogenetic allele frequencies, we present seven geographically-defined groups: American, Central/South Asian, East Asian, European, Near Eastern, Oceanian, and Sub-Saharan African, and two admixed groups: African American/Afro-Caribbean and Latino. Read More

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December 2018
3 Reads

Regulation of brain drug metabolizing enzymes and transporters by nuclear receptors.

Drug Metab Rev 2018 Dec 2:1-27. Epub 2018 Dec 2.

b Center for Pharmacogenetics and Department of Pharmaceutical Sciences , University of Pittsburgh , Pittsburgh , PA 15261 , USA.

Nuclear receptors (NRs) belong to a family of ligand dependent transcription factors. The target genes of NRs include many drug metabolizing enzymes and transporters. The central nervous system (CNS) bears the expression of NRs, drug metabolizing enzymes and transporters. Read More

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December 2018
3 Reads

Pharmacogenetics of Type 2 Diabetes Mellitus, the route toward tailored medicine.

Diabetes Metab Res Rev 2018 Dec 4:e3109. Epub 2018 Dec 4.

Department of Medical and Surgical Sciences, University Magna Graecia of Catanzaro, Catanzaro, Italy.

Type 2 diabetes mellitus (T2DM) is a chronic disease that has reached the levels of a global epidemic. In order to achieve optimal glucose control it is often necessary to rely on combination therapy of multiple drugs or insulin, because uncontrolled glucose levels result in T2DM progression and enhanced risk of complications and mortality. Several anti-hyperglycemic agents have been developed over time, and T2DM pharmacotherapy should be prescribed based on suitability for the individual patient's characteristics. Read More

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December 2018
3 Reads

HLA testing in the molecular diagnostic laboratory.

Virchows Arch 2018 Dec 4. Epub 2018 Dec 4.

Department of Pathology, University of New Mexico, MSC08 4640, Reginald Heber Fitz Hall, Room 335, 1 University of New Mexico, 87131, Albuquerque, NM, Mexico.

The human leukocyte antigen (HLA) system is a highly polymorphic family of genes involved in immunity and responsible for identifying self versus non-self. HLA typing is essential for solid organ and bone marrow transplantation as well as in non-transplant settings such as disease association and pharmacogenomics. Typing of HLA genes differs from most molecular testing as, rather than evaluating differences from an accepted "wild-type" gene, it must distinguish between thousands of similar, but distinct alleles. Read More

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December 2018
1 Read

ABCC10 Plays a Significant Role in the Transport of Gefitinib and Contributes to Acquired Resistance to Gefitinib in NSCLC.

Front Pharmacol 2018 20;9:1312. Epub 2018 Nov 20.

Institute of Life Sciences, Chongqing Medical University, Chongqing, China.

Gefitinib, an epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (EGFR-TKI), is used clinically as first-line therapy in patients with advanced non-small cell lung cancer (NSCLC) with EGFR activating mutations, but the inevitable development of acquired resistance limits its efficacy. In up to 30-40% of NSCLC cases, the mechanism underlying acquired resistance remains unknown. ATP-binding cassette (ABC) transporters are a family of membrane proteins that can significantly influence the bioavailability of numerous drugs, and have confirmed to play an essential role in multidrug resistance (MDR) in cancer chemotherapy. Read More

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November 2018
3 Reads

Evolution of Dihydropyrimidine Dehydrogenase Diagnostic Testing in a Single Center during an 8-Year Period of Time.

Curr Ther Res Clin Exp 2019 31;90:1-7. Epub 2018 Oct 31.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.

Objective: Fluoropyrimidine treatment can be optimized based on dihydropyrimidine dehydrogenase (DPD) activity. DPD dysfunction leads to increased exposure to active metabolites, which can result in severe or even fatal toxicity.

Methods: We provide an overview of 8 years of DPD diagnostic testing (n = 1194). Read More

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October 2018
1 Read

Population Pharmacokinetics and Dosing Optimization of Amoxicillin in Neonates and Young Infants.

Antimicrob Agents Chemother 2018 Dec 3. Epub 2018 Dec 3.

Department of Clinical Pharmacy, School of Pharmaceutical Sciences, Shandong University, Jinan 250014, China

Amoxicillin is widely used to treat bacterial infections in neonates. However, considerable inter-center variability in dosage regimens of antibiotic exist in clinical practice. Pharmacokinetics of amoxicillin has been described in only a few preterm neonates. Read More

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December 2018
14 Reads

Fundamental Considerations for Genetically-Guided Pain Management with Opioids Based on CYP2D6 and OPRM1 Polymorphisms.

Pain Physician 2018 Nov;21(6):E611-E621

Genomas Inc., Hartford, CT.

Background: A major challenge for effective pharmacotherapy in pain management is to provide the drug best suited to the patient's innate characteristics.

Objective: The article illustrates pharmacogenetic principles to optimize treatments for patients and increase the likelihood of pain relief without dependence. Genetic variances are particularly relevant to opioid drugs used in pain control, and can now be harvested for predictive clinical decision support. Read More

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November 2018
2 Reads

Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes.

Clin Pharmacol Ther 2018 Nov 30. Epub 2018 Nov 30.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

The identification in a patient of one of the 50 variants in the RYR1 or CACNA1S genes reviewed here should lead to a presumption of malignant hyperthermia susceptibility. Malignant hyperthermia susceptibility can lead to life-threatening reactions to potent volatile anesthetic agents or succinylcholine. We summarize evidence from the literature supporting this association and provide therapeutic recommendations for the use of these agents in patients with these RYR1 or CACNA1S variants (updates at https://cpicpgx. Read More

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November 2018
4 Reads

Polymorphisms in mTOR and Calcineurin Signaling Pathways Are Associated With Long-Term Clinical Outcomes in Kidney Transplant Recipients.

Front Pharmacol 2018 14;9:1296. Epub 2018 Nov 14.

School of Pharmaceutical Sciences, University of São Paulo, São Paulo, Brazil.

Monitoring of immunosuppressive drugs, such as calcineurin and mTOR inhibitors, is essential to avoid undesirable kidney transplant outcomes. Polymorphisms in pharmacokinetics-related genes have been associated with variability in blood levels of immunosuppressive drugs and adverse effects, but influence of pharmacodynamics-related genes remains to be elucidated. The influence of polymorphisms in genes of the mTOR and calcineurin signaling pathways on long-term clinical outcomes was investigated in Brazilian kidney transplant recipients within the 1-year post-transplant. Read More

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November 2018
4 Reads

Diagnostic and Therapeutic Strategies for Fluoropyrimidine Treatment of Patients Carrying Multiple DPYD Variants.

Genes (Basel) 2018 Nov 28;9(12). Epub 2018 Nov 28.

Department of Clinical Pharmacy & Toxicology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

genotyping prior to fluoropyrimidine treatment is increasingly implemented in clinical care. Without phasing information (i.e. Read More

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November 2018
1 Read

Multiethnic Genome-wide Association Study of Diabetic Retinopathy using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control.

Diabetes 2018 Nov 28. Epub 2018 Nov 28.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA

To identify genetic variants associated with diabetic retinopathy (DR), we performed a large, multiethnic genome-wide association study (GWAS). Discovery included eight European cohorts (n = 3,246) and seven African American cohorts (n = 2,611). We meta-analyzed across cohorts using inverse-variance weighting, with and without liability threshold modeling of glycemic control and duration of diabetes. Read More

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November 2018
1 Read
8.095 Impact Factor

Impact of and Polymorphisms on Warfarin Sensitivity and Responsiveness in Jordanian Cardiovascular Patients during the Initiation Therapy.

Genes (Basel) 2018 Nov 27;9(12). Epub 2018 Nov 27.

Department of Hematopathology, King Hussein Medical Center (KHMC), Jordan Royal Medical Services (RMS), Amman 11118, Jordan.

Warfarin is an oral anticoagulant frequently used in the treatment of different cardiovascular diseases. Genetic polymorphisms in the and genes have produced variants with altered catalytic properties. A total of 212 cardiovascular patients were genotyped for 17 Single Nucleotide Polymorphisms (SNPs) within the and genes. Read More

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November 2018
2 Reads

Continuing war on pain: a personalized approach to the therapy with nonsteroidal anti-inflammatory drugs and opioids.

Per Med 2018 Nov 28. Epub 2018 Nov 28.

St Catherine Specialty Hospital, 10000 Zagreb & 49210 Zabok, Croatia.

Successful pain management requires the delivery of analgesia with minimal risk of adverse drug reactions. Nonsteroidal anti-inflammatory drugs and opioids remain the mainstay of treatment for the majority of patients. Unfortunately, almost 50% of all patients experience inadequate pain relief and serious side effects. Read More

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November 2018
2 Reads

Ophthalmic Insert versus Eye Drops for Mydriasis in Neonates: A Randomized Clinical Trial.

Neonatology 2018 Nov 27;115(2):142-148. Epub 2018 Nov 27.

Data Mining International, Geneva, Switzerland.

Background: Eye drop treatment routinely used to obtain mydriasis prior to fundoscopy in neonates requires repeated instillations of mydriatic agents that can lead to systemic side effects.

Objectives: The aim of this study was to compare the mydriatic efficacy and tolerance of administration of phenylephrine and tropicamide via the ophthalmic insert Mydriasert® versus standard eye drop treatment in neonates.

Methods: In this prospective, single-blinded, noninferiority study, 80 hospitalized neonates (age < 18 months) requiring bilateral fundus examination were randomized to receive eye drops (repeated instillations of 2. Read More

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November 2018
5 Reads

Clinical Utility of Pharmacogenetic Testing and a Clinical Decision Support Tool to Enhance the Identification of Drug Therapy Problems Through Medication Therapy Management in Polypharmacy Patients.

J Manag Care Spec Pharm 2018 Dec;24(12):1250-1259

5 Pharmacotherapy Outcomes Research Center and Department of Pharmacotherapy, University of Utah, Salt Lake City, and Program in Personalized Health Care, University Health, Salt Lake City, Utah.

Background: In polypharmacy patients, medication therapy management (MTM) services provide a comprehensive review of current medications and future treatment goals. Pharmacogenetics (PGx) may further optimize the identification of potential drug therapy problems (DTPs); however, the clinical utility of PGx information with a clinical decision support tool (CDST) in an MTM setting in identifying DTPs has not been systematically assessed.

Objective: To assess the clinical utility of an MTM service enhanced by pharmacogenetic test results and a clinical decision support tool. Read More

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December 2018

Autonomic dysfunction and HPV immunization: an overview.

Immunol Res 2018 Nov 27. Epub 2018 Nov 27.

Rheumatology Department, National Institute of Cardiology, Mexico City, Mexico.

This article reviews the case series reported from several countries describing patients with suspected severe side effects to the HPV vaccines. The described symptom clusters are remarkably similar and include disabling fatigue, headache, widespread pain, fainting, gastrointestinal dysmotility, limb weakness, memory impairment episodes of altered awareness, and abnormal movements. This constellation of symptoms and signs has been labeled with different diagnoses such as complex regional pain syndrome (CRPS), postural orthostatic tachycardia syndrome (POTS), small fiber neuropathy (SFN), myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), or fibromyalgia. Read More

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November 2018
1 Read

Rechallenge for Patients With RAS and BRAF Wild-Type Metastatic Colorectal Cancer With Acquired Resistance to First-line Cetuximab and Irinotecan: A Phase 2 Single-Arm Clinical Trial.

JAMA Oncol 2018 Nov 21. Epub 2018 Nov 21.

Department of Medical Oncology, Campus Bio-Medico University of Rome, Rome, Italy.

Importance: Based on a small retrospective study, rechallenge with cetuximab-based therapy for patients with KRAS wild-type metastatic colorectal cancer (mCRC) who were previously treated with the same anti-epidermal growth factor receptor-based regimen might be efficacious. Recent data suggest the role of liquid biopsy as a tool to track molecular events in circulating tumor DNA (ctDNA).

Objective: To prospectively assess the activity of cetuximab plus irinotecan as third-line treatment for patients with RAS and BRAF wild-type mCRC who were initially sensitive to and then resistant to first-line irinotecan- and cetuximab-based therapy. Read More

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November 2018
2 Reads

Association Between Plasma Caffeine and Other Methylxanthines and Metabolic Parameters in a Psychiatric Population Treated With Psychotropic Drugs Inducing Metabolic Disturbances.

Front Psychiatry 2018 9;9:573. Epub 2018 Nov 9.

Unit of Pharmacogenetics and Clinical Psychopharmacology, Centre for Psychiatric Neuroscience, Department of Psychiatry, Lausanne University Hospital, Prilly, University of Lausanne, Lausanne, Switzerland.

Multiple studies conducted in the general population identified an association between self-reported coffee consumption and plasma lipid levels. To date, no study assessed whether and which plasma methylxanthines (caffeine and/or its metabolites, i.e. Read More

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November 2018
8 Reads

Identification and validation of potential target genes in papillary thyroid cancer.

Eur J Pharmacol 2018 Nov 22;843:217-225. Epub 2018 Nov 22.

Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, China; Institute of Clinical Pharmacology, Central South University and Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, China. Electronic address:

Thyroid cancer (TC) is one of the most common endocrine malignancies, and the incidence of TC has almost tripled over the past three decades. This increase may partially own to overdiagnosis and approximately 15-30% of cytological indeterminate thyroid nodules cannot be evaluated by means of fine-needle aspiration. The present study aimed to identify potential crucial genes of PTC and provide new sights into improving the diagnosis of thyroid lesions for future study. Read More

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November 2018
1 Read

Pharmacogenetics of artemether-lumefantrine influence on nevirapine disposition: clinically significant drug-drug interaction?

Br J Clin Pharmacol 2018 Nov 24. Epub 2018 Nov 24.

Department of Molecular and Clinical Pharmacology, University of Liverpool, 70 Pembroke Place, Liverpool, L69 3GF, United Kingdom.

Aims: In this study the influence of first-line antimalarial drug artemether-lumefantrine on the pharmacokinetics of the antiretroviral drug nevirapine was investigated in the context of selected single nucleotide polymorphisms (SNPs) in a cohort of adult HIV-infected Nigerian patients.

Methods: This was a two-period, single sequence crossover study conducted in two stages. In stage 1, 150 HIV-infected patients receiving nevirapine-based antiretroviral regimens were enrolled and genotyped for 7 SNPs. Read More

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November 2018
2 Reads
3.878 Impact Factor

The pivotal oncogenic role of Jab1/CSN5 and its therapeutic implications in human cancer.

Gene 2018 Nov 20;687:219-227. Epub 2018 Nov 20.

Department of Clinical Pharmacology, Xiangya Hospital, Central South University and Institute of Clinical Pharmacology, Central South University, Hunan Key Laboratory of Pharmacogenetics, Changsha 410008, PR China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, PR China. Electronic address:

Jab1/CSN5 is a conserved multifunctional protein involved in ubiquitin-mediated protein degradation. Deregulation of Jab1/CSN5 can exert dramatic effects on diverse cellular functions, including DNA repair, cell cycle control, apoptosis, angiogenesis, and signal transduction, all of which are critical for tumor development. Although increasing evidence has demonstrated that Jab1/CSN5 was overexpressed in a variety of human cancers and usually correlated with poor prognosis, little was known about the underlying regulatory principles that coordinated its function. Read More

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November 2018
3 Reads
2.138 Impact Factor

The Case for Pharmacogenetics-Guided Prescribing of Codeine in Children.

Clin Pharmacol Ther 2018 Nov 22. Epub 2018 Nov 22.

Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.

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November 2018
7.900 Impact Factor