184 results match your criteria Pharmacogenomics and Personalized Medicine [Journal]


Population's perspectives toward biobanks in scientific research: a study from Jordan.

Pharmgenomics Pers Med 2019 21;12:23-32. Epub 2019 Mar 21.

Division of Global Health, Department of Family and Preventive Medicine, University of California at San Diego, San Diego, CA, USA.

Background: Biobanks (biorepositories) were established to compile collected bio-specimens for future research and usage. The collection/storage of bio-specimens triggers several social, legal, and ethical implications where public attitudes can represent the core measurement/parameter in defining the most acceptable practices and ethical approaches when dealing with biobanks.

Aim: The aim of this study was to explore and understand population's perspectives, expectations, and concerns toward biobanks in Jordan. Read More

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http://dx.doi.org/10.2147/PGPM.S187657DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6432886PMC

Impact of a variable number tandem repeat in the CYP2C9 promoter on warfarin sensitivity and responsiveness in Jordanians with cardiovascular disease.

Pharmgenomics Pers Med 2019 21;12:15-22. Epub 2019 Mar 21.

Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan,

Purpose: The purpose of this study was to investigate the influence of CYP/CYP450 2C9 () promoter variable number tandem repeat (p-VNTR) polymorphism on susceptibility to cardiovascular disease and on warfarin sensitivity and responsiveness, in Jordanians with cardiovascular disease during initiation and stabilization phases of therapy.

Patients And Methods: A total of 211 cardiovascular patients who were being treated with warfarin anticoagulants and 205 healthy individuals were enrolled in this study. PCR-based methods were performed to analyze the effects of p-VNTR polymorphism on warfarin metabolism. Read More

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http://dx.doi.org/10.2147/PGPM.S189838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6432888PMC

Precision medicine approaches for the management of Ewing sarcoma: current perspectives.

Pharmgenomics Pers Med 2019 17;12:9-14. Epub 2019 Jan 17.

Sarcoma Department,

Advancements in molecular and genetic techniques have significantly furthered our biological understanding of Ewing sarcoma (ES). ES is typified by a driving TET-ETS fusion with an otherwise relatively quiet genome. Detection of one of several characteristic fusions, most commonly , is the gold standard for diagnosis. Read More

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http://dx.doi.org/10.2147/PGPM.S170612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340366PMC
January 2019
2 Reads

Effects of coagulation factor VII polymorphisms on warfarin sensitivity and responsiveness in Jordanian cardiovascular patients during the initiation and maintenance phases of warfarin therapy.

Pharmgenomics Pers Med 2019 14;12:1-8. Epub 2019 Jan 14.

Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan,

Purpose: This study aims to investigate the relationships between genetic polymorphisms of the coagulation factor VII (FVII) gene and warfarin responsiveness and sensitivity.

Patients And Methods: The study population consisted of 417 subjects (207 Jordanian cardiovascular patients and 210 healthy individuals). Cardiovascular patients were classified into two groups: those sensitive to warfarin dosage (sensitive, moderate, and resistant) and those responsive to warfarin based on International Normalized Ratios (INRs; poor, good, and extensive responders). Read More

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http://dx.doi.org/10.2147/PGPM.S189458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338106PMC
January 2019
2 Reads

Genetic polymorphism of the methotrexate transporter ABCG2, blood pressure and markers of arterial function in patients with rheumatoid arthritis: repeated cross-sectional study.

Pharmgenomics Pers Med 2018 12;11:205-210. Epub 2018 Nov 12.

Department of Clinical Pharmacology, College of Medicine and Public Health, Flinders University and Flinders Medical Centre, Adelaide, SA, Australia.

Purpose: Methotrexate (MTX) treatment is associated with lower blood pressure (BP) and arterial stiffness in rheumatoid arthritis (RA). We investigated associations between single-nucleotide polymorphism (SNP) of the ATP-binding cassette efflux transporter gene (rs2231142), BP, and arterial stiffness in RA patients treated with MTX.

Patients And Methods: Clinical and 24-hour peripheral and central BP, arterial wave reflection (Augmentation Index, AIx), arterial stiffness (Pulse Wave Velocity, PWV), and intracellular MTX polyglutamate (MTXPGs) concentrations were assessed in 56 RA patients on stable treatment with MTX using a repeated cross-sectional study design with measurements at baseline and after 8 months. Read More

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https://www.dovepress.com/genetic-polymorphism-of-the-methot
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http://dx.doi.org/10.2147/PGPM.S170557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237132PMC
November 2018
3 Reads

Precision pharmacotherapy: psychiatry's future direction in preventing, diagnosing, and treating mental disorders.

Authors:
Andreas Menke

Pharmgenomics Pers Med 2018 19;11:211-222. Epub 2018 Nov 19.

Department of Psychiatry, Psychosomatics and Psychotherapy, University Hospital of Wuerzburg, Wuerzburg 97080, Germany,

Mental disorders account for around one-third of disability worldwide and cause enormous personal and societal burden. Current pharmacotherapies and nonpharmacotherapies do help many patients, but there are still high rates of partial or no response, delayed effect, and unfavorable adverse effects. The current diagnostic taxonomy of mental disorders by the Diagnostic and Statistical Manual of Mental Disorders and the International Classification of Diseases relies on presenting signs and symptoms, but does not reflect evidence from neurobiological and behavioral systems. Read More

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http://dx.doi.org/10.2147/PGPM.S146110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6250105PMC
November 2018
18 Reads

Influence of MSI and 18q LOH markers on capecitabine adjuvant monotherapy in colon cancer patients.

Pharmgenomics Pers Med 2018 1;11:193-203. Epub 2018 Nov 1.

Center for Biomolecular Pharmaceutical Analyses, Faculty of Pharmacy, Ss. Cyril and Methodius University in Skopje, Skopje, Macedonia,

Purpose: The aim of this study was to evaluate whether pretreatment analysis of selected molecular markers can be used for the prediction of disease-free survival (DFS)/overall survival (OS) of capecitabine adjuvant monotherapy in colon cancer patients.

Patients And Methods: A total of 126 patients enrolled in a capecitabine Phase IV clinical trial were analyzed for microsatellite instability (MSI), 18q loss of heterozygosity (LOH), thymidylate synthase (TYMS) 5' variable number of tandem repeat (VNTR), and methylene tetrahydrofolate reductase (MTHFR) C677T variants. The significance in predicting 5-year DFS/OS was assessed by Kaplan-Meier and Cox regression analyses. Read More

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http://dx.doi.org/10.2147/PGPM.S172467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219100PMC
November 2018
5 Reads

genotype can help to predict effectiveness and safety during opioid treatment for chronic low back pain: results from a retrospective study in an Italian cohort.

Pharmgenomics Pers Med 2018 24;11:179-191. Epub 2018 Oct 24.

Department of Clinical Chemistry, Erasmus MC, 3000 Rotterdam, The Netherlands.

Background: Opioids are widely used for chronic low back pain (CLBP); however, it is still unclear how to predict their effectiveness and safety. Codeine, tramadol and oxycodone are metabolized by CYP/CYP450 2D6 (CYP2D6), a highly polymorphic enzyme linked to allele-specific related differences in metabolic activity.

Purpose: genetic polymorphisms could potentially help to predict the effectiveness and safety of opioid-based drugs in clinical practice, especially in the treatment of CLBP. Read More

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http://dx.doi.org/10.2147/PGPM.S181334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205525PMC
October 2018
3 Reads

Creating and validating a warfarin pharmacogenetic dosing algorithm for Colombian patients.

Pharmgenomics Pers Med 2018 16;11:169-178. Epub 2018 Oct 16.

GENIUROS Research Group, Center For Research in Genetics and Genomics - CIGGUR, School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia,

Purpose: Warfarin is an oral anticoagulant associated with adverse reaction to drugs due to wide inter- and intra-individual dosage variability. Warfarin dosage has been related to non-genetic and genetic factors. and gene polymorphisms affect warfarin metabolism and dosage. Read More

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https://www.dovepress.com/creating-and-validating-a-warfarin
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http://dx.doi.org/10.2147/PGPM.S170515DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198877PMC
October 2018
15 Reads

Effects of polymorphisms on the efficacy and safety of amlodipine therapy in Caucasian patients with stage I-II hypertension.

Pharmgenomics Pers Med 2018 20;11:157-165. Epub 2018 Sep 20.

Department of Clinical Pharmacology and Therapy, Russian Medical Academy of Continuous Professional Education, Ministry of Healthcare, Moscow, Russia,

Purpose: The aim of this study was to determine the impact of (MDR1) polymorphisms on the efficacy and safety of amlodipine in Caucasian patients.

Patients And Methods: The 12-week study included 100 patients. Patients with the newly diagnosed stage I-II hypertension (HT) were recruited to complete genotyping of the single-nucleotide polymorphism (SNP). Read More

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http://dx.doi.org/10.2147/PGPM.S158401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159808PMC
September 2018
3 Reads

ALK (D5F3) CDx: an immunohistochemistry assay to identify ALK-positive NSCLC patients.

Pharmgenomics Pers Med 2018 17;11:147-155. Epub 2018 Sep 17.

Department of Pathology, Massachusetts General Hospital, Boston, MA, USA,

Screening for anaplastic lymphoma kinase () rearrangements is a very important process in treatment decision making for advanced non-small-cell lung cancer (NSCLC). Although fluorescent in situ hybridization (FISH) is considered the universally accepted reference standard, it is associated with technical difficulties and high costs that have made global implementation of this assay challenging. Conversely, ALK immunohistochemistry has shown high sensitivity and specificity compared to FISH and other molecular assays and is more cost-effective. Read More

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http://dx.doi.org/10.2147/PGPM.S156672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6147206PMC
September 2018
15 Reads

Qualitative user evaluation of a revised pharmacogenetic educational toolkit.

Pharmgenomics Pers Med 2018 4;11:139-146. Epub 2018 Sep 4.

Duke Center for Applied Genomics and Precision Medicine, Duke University Medical Center, Durham, NC, USA,

Introduction: Pharmacogenetic (PGx) testing is a leading application for personalized and precision medicine; however, there are barriers, including limited provider and patient understanding, which affect its uptake. There is a need for tools that can enhance the patient and provider experience with testing and promoting the shared and informed decision-making.

Materials And Methods: In this study, we sought to gather additional feedback on a PGx toolkit comprised of four educational tools that had been previously evaluated through an online survey by pharmacists. Read More

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http://dx.doi.org/10.2147/PGPM.S169648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128278PMC
September 2018
2 Reads

The impact of (rs1045642 and rs4148738) and (rs2244613) gene polymorphisms on dabigatran equilibrium peak concentration in patients after total knee arthroplasty.

Pharmgenomics Pers Med 2018 25;11:127-137. Epub 2018 Jul 25.

Department of Neurology, Division of Clinical Neurosciences, Turku University Hospital, Turku, Finland.

Background: Non-vitamin K oral anticoagulants (NOACs) are commonly used for prophylaxis of venous thromboembolism (VTE) in orthopedic patients. Despite known safety and high potency of NOACs, potential interactions of NOACs with genetic polymorphisms are poorly understood. Dabigatran etexilate is one of the most commonly prescribed direct thrombin inhibitors for the prevention of VTE. Read More

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https://www.dovepress.com/the-impact-of-abcb1-rs1045642-and-
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http://dx.doi.org/10.2147/PGPM.S169277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6064159PMC
July 2018
17 Reads

The functional variant rs334558 of is associated with remission in patients with depressive disorders.

Pharmgenomics Pers Med 2018 20;11:121-126. Epub 2018 Jul 20.

Mental Health Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.

Purpose: and genes have been implicated in the pathogenesis of a number of psychiatric and neurological disorders. Furthermore, their genetic variants are associated with response to antidepressant pharmacotherapy. As the evidence is still incomplete and inconsistent, continuing efforts to investigate the role of these two genes in the pathogenesis and treatment of brain disorders is necessary. Read More

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http://dx.doi.org/10.2147/PGPM.S171423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055890PMC
July 2018
6 Reads

Effects of CYP2D6 genetic polymorphisms on the efficacy and safety of fluvoxamine in patients with depressive disorder and comorbid alcohol use disorder.

Pharmgenomics Pers Med 2018 29;11:113-119. Epub 2018 Jun 29.

Department of Clinical Pharmacology and Therapy, Russian Medical Academy of Continuous Professional Education of the Ministry of Health of the Russian Federation, Moscow, Russia.

Background: Fluvoxamine therapy is used for treatment of patients with depressive disorder, but it is often ineffective, and some patients suffer from dose-dependent undesirable side effects such as vertigo, headache, indigestion, xerostomia, increased anxiety, etc. CYP2D6 is involved in the biotransformation of fluvoxamine. Meanwhile, the genes encoding these isoenzymes have a high level of polymorphism, which may affect the protein synthesis. Read More

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http://dx.doi.org/10.2147/PGPM.S160763DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029588PMC
June 2018
3 Reads

CYP3A and CYP2C19 activity in urine in relation to CYP3A4, CYP3A5, and CYP2C19 polymorphisms in Russian peptic ulcer patients taking omeprazole.

Pharmgenomics Pers Med 2018 18;11:107-112. Epub 2018 Jun 18.

Research Center, Russian Medical Academy of Continuous Professional Education, Ministry of Healthcare, Moscow, Russia.

Background: Proton pump inhibitors (PPIs) are metabolized by cytochrome P450. CYP2C19 is the main isoenzyme for the majority of PPI, whereas CYP3A family is a secondary enzyme for PPI biotransformation.

Purpose: The aim of the study was to find if , and genotypes are connected with CYP3A and CYP2C19 activities in Russian peptic ulcer patients taking omeprazole. Read More

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http://dx.doi.org/10.2147/PGPM.S159708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014385PMC
June 2018
11 Reads

Pharmacogenetic association study on clopidogrel response in Puerto Rican Hispanics with cardiovascular disease: a novel characterization of a Caribbean population.

Pharmgenomics Pers Med 2018 8;11:95-106. Epub 2018 Jun 8.

Pharmaceutical Sciences Department, University of Puerto Rico Medical Sciences Campus, San Juan, PR, USA.

Introduction: High on-treatment platelet reactivity (HTPR) to clopidogrel imparts an increased risk for ischemic events in adults with coronary artery disease. Platelet reactivity varies with ethnicity and is influenced by both clinical and genetic variables; however, no clopidogrel pharmacogenetic studies with Puerto Rican patients have been reported. Therefore, we sought to identify clinical and genetic determinants of on-treatment platelet reactivity in a cohort of Puerto Rican patients with cardiovascular disease. Read More

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http://dx.doi.org/10.2147/PGPM.S165805DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996853PMC
June 2018
8 Reads

Emerging biomarkers in the diagnosis of prostate cancer.

Pharmgenomics Pers Med 2018 16;11:83-94. Epub 2018 May 16.

Department of Biochemistry and Molecular Genetics (CDB), Hospital Clínic, IDIBAPS, Barcelona, Catalonia, Spain.

Prostate cancer (PCa) is the second most common cancer in men worldwide. A large proportion of PCa are latent, never destined to progress or affect the patients' life. It is of utmost importance to identify which PCa are destined to progress and which would benefit from an early radical treatment. Read More

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http://dx.doi.org/10.2147/PGPM.S136026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5961643PMC
May 2018
4 Reads

Meta-analysis of the association of the haptoglobin genotype with cardiovascular outcomes and the pharmacogenomic interactions with vitamin E supplementation.

Pharmgenomics Pers Med 2018 23;11:71-82. Epub 2018 Apr 23.

Bruce and Rappaport Faculty of Medicine, Technion Institute of Technology, Haifa, Israel.

Objectives: The objectives of the study were to compile and summarize the data from all of the clinical trials designed to examine the association between haptoglobin (Hp) genotype and incidence of cardiovascular (CV) events in patients with diabetes mellitus (DM) and to assess the impact of vitamin E treatment on CV outcomes according to the Hp genotype.

Background: The Hp genotype could serve as a predictive biomarker to DM patients who may benefit from vitamin E therapy.

Methods: The electronic databases MEDLINE, PubMed, EMBASE and the Cochrane Library for Central Register of Clinical Trials were searched systematically using the following MESH terms: "haptoglobin genotype", "diabetes mellitus" and "cardiovascular events". Read More

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http://dx.doi.org/10.2147/PGPM.S159454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5923226PMC
April 2018
3 Reads

Budget impact model for oncopharmacogenetics from the perspective of mandatory basic health insurance in Switzerland using the example of breast cancer.

Pharmgenomics Pers Med 2018 23;11:67-69. Epub 2018 Apr 23.

Department of Health Sciences, Helsana Group, Zürich, Switzerland.

Single-nucleotide polymorphisms (SNPs) can severely impact individual drug response and health outcomes in cancer patients. Genetic tests to screen for marker SNPs are available to adjust the drug dose of oncologicals to the patient's needs. However, it is unclear whether the positive effects outbalance the increased costs or even lead to an overall cost reduction. Read More

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http://dx.doi.org/10.2147/PGPM.S154368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5923251PMC
April 2018
3 Reads

H3Africa: current perspectives.

Pharmgenomics Pers Med 2018 10;11:59-66. Epub 2018 Apr 10.

Department of Psychiatry and Mental Health, University of Cape Town.

Precision medicine is being enabled in high-income countries by the growing availability of health data, increasing knowledge of the genetic determinants of disease and variation in response to treatment (pharmacogenomics), and the decreasing costs of data generation, which promote routine application of genomic technologies in the health sector. However, there is uncertainty about the feasibility of applying precision medicine approaches in low- and middle-income countries, due to the lack of population-specific knowledge, skills, and resources. The Human Heredity and Health in Africa (H3Africa) initiative was established to drive new research into the genetic and environmental basis for human diseases of relevance to Africans as well as to build capacity for genomic research on the continent. Read More

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http://dx.doi.org/10.2147/PGPM.S141546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903476PMC
April 2018
4 Reads
1 Citation

CYP2C9 polymorphisms in epilepsy: influence on phenytoin treatment.

Pharmgenomics Pers Med 2018 29;11:51-58. Epub 2018 Mar 29.

Department of Neurology, Catholic University of Parana (PUCPR), Curitiba, Brazil.

Phenytoin (PHT) is an antiepileptic drug widely used in the treatment of focal epilepsy and status epilepticus, and effective in controlling focal seizures with and without tonic-clonic generalization and status epilepticus. The metabolization of PHT is carried out by two oxidative cytochrome P450 enzymes CYP2C9 and CYP2C19; 90% of this metabolization is done by CYP2C9 and the remaining 10% by CYP2C19. Genetic polymorphism of CYP2C9 may reduce the metabolism of PHT by 25-50% in patients with variants *2 and *3 compared to those with wild-type variant *1. Read More

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http://dx.doi.org/10.2147/PGPM.S108113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880189PMC
March 2018
7 Reads

Influence of and gene polymorphisms on pharmacokinetics of apixaban in patients with atrial fibrillation and acute stroke.

Pharmgenomics Pers Med 2018 22;11:43-49. Epub 2018 Mar 22.

Russian Medical Academy of Continuous Professional Education, Moscow, Russia.

Introduction: Difficulties in non-vitamin K anticoagulant (NOAC) administration in acute stroke can be associated with changes in pharmacokinetic parameters of NOAC such as biotransformation, distribution, and excretion. Therefore, obtaining data on pharmacokinetics of NOAC and factors that affect it may help develop algorithms for personalized use of this drug class in patients with acute cardioembolic stroke.

Patients And Methods: Pharmacokinetics of apixaban in patients with acute stroke was studied earlier by Kryukov et al. Read More

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http://dx.doi.org/10.2147/PGPM.S157111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868588PMC
March 2018
20 Reads

CYP3A5 polymorphisms in renal transplant recipients: influence on tacrolimus treatment.

Pharmgenomics Pers Med 2018 7;11:23-33. Epub 2018 Mar 7.

Division of Nephrology, St Michael's Hospital, Toronto, ON, Canada.

Tacrolimus is a commonly used immunosuppressant after kidney transplantation. It has a narrow therapeutic range and demonstrates wide interindividual variability in pharmacokinetics, leading to potential underimmunosuppression or toxicity. Genetic polymorphism in CYP3A5 enzyme expression contributes to differences in tacrolimus bioavailability between individuals. Read More

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http://dx.doi.org/10.2147/PGPM.S107710DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846312PMC
March 2018
7 Reads

Which attributes of whole genome sequencing tests are most important to the general population? Results from a German preference study.

Pharmgenomics Pers Med 2018 14;11:7-21. Epub 2018 Feb 14.

Leibniz University of Hannover, Center for Health Economics Research Hannover (CHERH), Germany.

Objective: The aim of this study was to identify the preferences for whole genome sequencing (WGS) tests without genetic counseling.

Methods: A discrete choice experiment was conducted where participants chose between two hypothetical alternatives consisting of the following attributes: test accuracy, test costs, identified diseases, probability of disease occurrence, and data access. People from the general German population aged ≥18 years were eligible to participate in the survey. Read More

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http://dx.doi.org/10.2147/PGPM.S149803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5818841PMC
February 2018
7 Reads

The influence of CYP3A5 polymorphisms on haloperidol treatment in patients with alcohol addiction.

Pharmgenomics Pers Med 2018 28;11:1-5. Epub 2017 Dec 28.

Russian Medical Academy of Continuous Professional Education, Ministry of Health of the Russian Federation.

Background: Isoenzymes CYP2D6 and CYP3A4, the activity of which varies widely, are involved in metabolism of haloperidol and may influence its profile of efficacy and safety.

Objective: The primary aim of this study was to estimate the relationship between CYP3A5 gene polymorphism, activity of the CYP3A isoenzyme, and the risk of development of adverse drug reactions by haloperidol in patients with alcohol abuse.

Methods: Sixty-six male alcohol-addicted patients participated in the study. Read More

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http://dx.doi.org/10.2147/PGPM.S144503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5749387PMC
December 2017
8 Reads

Ethiopian health care professionals' knowledge, attitude, and interests toward pharmacogenomics.

Pharmgenomics Pers Med 2017 5;10:279-285. Epub 2017 Dec 5.

Department of Clinical Pharmacy, School of Pharmacy, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.

Background: Pharmacogenomics is a field of science which studies the impact of inheritance on individual variation in medication therapy response.

Aim: We assessed healthcare professionals' knowledge, attitude, and interest toward pharmacogenomics.

Methods: A cross-sectional survey was conducted using a 32-item questionnaire among physicians, nurses, and pharmacists who were working at the University of Gondar Referral and Teaching Hospital in northwest Ethiopia. Read More

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http://dx.doi.org/10.2147/PGPM.S145336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722011PMC
December 2017
10 Reads

Update on the clinical utility of an RNA interference-based treatment: focus on Patisiran.

Pharmgenomics Pers Med 2017 10;10:267-278. Epub 2017 Nov 10.

Molecular Biology and Genetics Program, Department of Biological Sciences, Faculty of Arts and Sciences, Eastern Mediterranean University (EMU), Famagusta, North Cyprus, Turkey.

RNA interference (RNAi) is a naturally existing endogenous mechanism for post-transcriptional gene regulation, nowadays commonly utilized for functional characterization of genes and development of potential treatment strategies for diseases. RNAi-based studies for therapy, after being examined for over a decade, are finally in the pipeline for developing a potential treatment for the mutated transthyretin (TTR) gene, which gives rise to a dysfunctional TTR protein. This dysfunctional protein causes TTR amyloidosis (ATTR), an inherited, progressively incapacitating, and often fatal genetic disorder. Read More

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http://dx.doi.org/10.2147/PGPM.S87945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5689029PMC
November 2017
50 Reads

Pharmacogenomics of sickle cell disease: steps toward personalized medicine.

Pharmgenomics Pers Med 2017 19;10:261-265. Epub 2017 Oct 19.

Division of Hematology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.

Sickle cell disease (SCD) is a monogenetic disease but has a wide range of phenotypic expressions. Some of these differences in phenotype can be explained by genetic polymorphisms in the human globin gene. These polymorphisms can result in different responses to typical treatment, sometimes leading to inadequate therapeutics. Read More

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http://dx.doi.org/10.2147/PGPM.S123427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656342PMC
October 2017
8 Reads

Do and gene polymorphisms and low CYP3A4 isoenzyme activity have an impact on stent implantation complications in acute coronary syndrome patients?

Pharmgenomics Pers Med 2017 18;10:243-245. Epub 2017 Sep 18.

Russian Medical Academy of Continuous Professional Education.

Aim: The aim of this study was to determine the impact of and gene polymorphisms and CYP3A4 isoenzyme activity on stent implantation complications among patients with an acute coronary syndrome (ACS) who underwent percutaneous coronary intervention (PCI).

Patients And Methods: Seventy-six patients (median age 63, range 37-91 years) with an ACS who underwent PCI were screened for and gene polymorphisms with real-time polymerase chain reaction: , , and . CYP3A4 isoenzyme activity was determined by urine cortisol and 6-beta-hydroxycortisol levels. Read More

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http://dx.doi.org/10.2147/PGPM.S143250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609797PMC
September 2017
20 Reads

Urine metabolic ratio of omeprazole in relation to CYP2C19 polymorphisms in Russian peptic ulcer patients.

Pharmgenomics Pers Med 2017 27;10:253-259. Epub 2017 Sep 27.

Research Center, Russian Medical Academy of Continuous Professional Education, Ministry of Healthcare, Moscow, Russia.

Background: CYP2C19 is known to be the main enzyme of biotransformation of proton pump inhibitors (PPIs), whereas the gene is highly polymorphic. Genotyping and phenotyping together represent more reliable data about patient's CYP2C19 activity.

Purpose: The aim of the study was to investigate the applicability of urine metabolic ratio of omeprazole for CYP2C19 phenotyping in Russian peptic ulcer patients with different genotypes. Read More

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http://dx.doi.org/10.2147/PGPM.S141935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628683PMC
September 2017
60 Reads

Pharmacogenomic testing: aiding in the management of psychotropic therapy for adolescents with autism spectrum disorders.

Pharmgenomics Pers Med 2017 25;10:247-252. Epub 2017 Sep 25.

Internal Medicine and Pediatrics at Grandview, Wexner Medical Center.

Adolescents with autism have higher rates of anxiety than the general adolescent population. They often struggle to express psychological symptoms verbally where their symptoms may manifest as withdrawal and agitation. Adolescent patients with autism have higher rates of polypharmacy and high-risk psychiatric medication use (eg, atypical antipsychotics) than other patients with psychiatric illness. Read More

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http://dx.doi.org/10.2147/PGPM.S130247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5626389PMC
September 2017
7 Reads

ABCB1 and ABCC1 single-nucleotide polymorphisms in patients treated with clozapine.

Pharmgenomics Pers Med 2017 28;10:235-242. Epub 2017 Aug 28.

University Clinic and Research Centre Blacktown, Western Sydney University, Western Sydney Local Health District, Blacktown, NSW, Australia.

Clozapine (CZ) has superior efficacy to other antipsychotic agents in the treatment of schizophrenia and has been extensively used in clinical practice. ATP-binding cassette (ABC) transporter proteins are responsible for the distribution of various molecules as well as drugs across extracellular and intracellular membranes, including the blood-brain barrier. Genetic variations in these proteins can account for differences in treatment response. Read More

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http://dx.doi.org/10.2147/PGPM.S142314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5587196PMC
August 2017
6 Reads

Updating the landscape of direct-to-consumer pharmacogenomic testing.

Pharmgenomics Pers Med 2017 22;10:229-232. Epub 2017 Aug 22.

Epidemiology and Genomics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, Rockville, MD, USA.

Pharmacogenomics has identified important drug-gene interactions that affect the safety and efficacy of medications. Direct-to-consumer genetic testing, when first introduced, included some pharmacogenomic-related genes. The current landscape of pharmacogenomic direct-to-consumer testing is reviewed. Read More

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http://dx.doi.org/10.2147/PGPM.S140461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5572950PMC
August 2017
5 Reads

Hyperbilirubinemia in atazanavir treated HIV-infected patients: the impact of the UGT1A1*28 allele.

Pharmgenomics Pers Med 2017 20;10:205-208. Epub 2017 Jun 20.

Department of Hygiene, Epidemiology and Medical Statistics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Combination antiretroviral treatment (cART) has significantly improved the life expectancy of people living with HIV. The life-long nature of cART increases the risk of side effects, which in some cases may have been caused by specific genetic characteristics. Patients treated with atazanavir (ATV) boosted with ritonavir (rit), which is a protease inhibitor used for the treatment of HIV, present with elevated bilirubin levels, at high proportions. Read More

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http://dx.doi.org/10.2147/PGPM.S107152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488765PMC
June 2017
19 Reads

phenotypes are associated with adverse outcomes related to opioid medications.

Pharmgenomics Pers Med 2017 24;10:217-227. Epub 2017 Jul 24.

Department of Health Sciences Research.

Background: Variation in the gene may affect response to opioids in both poor and ultrarapid metabolizers, but data demonstrating such associations have been mixed, and the impact of variants on toxicity-related symptoms (e.g., nausea) is unclear. Read More

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http://dx.doi.org/10.2147/PGPM.S136341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5533497PMC
July 2017
14 Reads

Pharmacodynamic genetic polymorphisms affect adverse drug reactions of haloperidol in patients with alcohol-use disorder.

Pharmgenomics Pers Med 2017 7;10:209-215. Epub 2017 Jul 7.

Russian Medical Academy of Continuous Professional Education of the Ministry of Health of the Russian Federation, Department of Clinical Pharmacology and Therapy, Moscow, Russia.

Background: Antipsychotic action of haloperidol is due to blockade of D receptors in the mesolimbic dopamine pathway, while the adverse drug reactions are associated with striatal D receptor blockade. Contradictory data concerning the effects of genetic polymorphisms of genes encoding these receptors and associated structures (catechol-O-methyltransferase [COMT], glycine transporter and gene encoding the density of D receptors on the neuronal membrane) are described.

Objective: The objectives of this study were to evaluate the correlation between DRD2, SLC6A3 (DAT) and COMT genetic polymorphisms and to investigate their effect on the development of adverse drug reactions in patients with alcohol-use disorder who received haloperidol. Read More

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http://dx.doi.org/10.2147/PGPM.S140700DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511016PMC
July 2017
8 Reads

Pharmacogenetics in inflammatory bowel disease: understanding treatment response and personalizing therapeutic strategies.

Pharmgenomics Pers Med 2017 26;10:197-204. Epub 2017 May 26.

Inflammatory Bowel Disease Clinic, Department of Gastroenterology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico.

Inflammatory bowel disease (IBD) is a chronic and heterogeneous disorder characterized by remitting and relapsing periods of activity. Pharmacogenetics refers to the study of the effect of inheritance on individual variation in drug responses. Several drug-related markers in IBD patients have been identified in order to predict the response to medical treatment including biological therapy as well as the reduction of adverse events. Read More

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http://dx.doi.org/10.2147/PGPM.S109648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457182PMC
May 2017
14 Reads

Observational study to calculate addictive risk to opioids: a validation study of a predictive algorithm to evaluate opioid use disorder.

Pharmgenomics Pers Med 2017 18;10:187-195. Epub 2017 May 18.

Proove Biosciences, Irvine, CA.

Background: Opioid abuse in chronic pain patients is a major public health issue, with rapidly increasing addiction rates and deaths from unintentional overdose more than quadrupling since 1999.

Purpose: This study seeks to determine the predictability of aberrant behavior to opioids using a comprehensive scoring algorithm incorporating phenotypic risk factors and neuroscience-associated single-nucleotide polymorphisms (SNPs).

Patients And Methods: The Proove Opioid Risk (POR) algorithm determines the predictability of aberrant behavior to opioids using a comprehensive scoring algorithm incorporating phenotypic risk factors and neuroscience-associated SNPs. Read More

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http://dx.doi.org/10.2147/PGPM.S123376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441670PMC
May 2017
28 Reads

CYP2C19*2 status in patients with Stevens-Johnson syndrome and toxic epidermal necrolysis.

Pharmgenomics Pers Med 2017 17;10:183-186. Epub 2017 May 17.

Department of Dermatology, San Antonio Uniformed Services Health Education Consortium, San Antonio, TX.

Purpose: Genetic polymorphisms have been linked to an increased predisposition to developing certain diseases. For example, patients of Han-Chinese descent carrying the HLA-B*1502 allele are at an increased risk of developing Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) if given carbamazepine. Given the complexity of in vivo drug metabolism, it is plausible that the activity of enzyme systems unrelated to specific drug metabolism may be important. Read More

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http://dx.doi.org/10.2147/PGPM.S129908DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440075PMC
May 2017
38 Reads

genetic variants in leukemias: current insights into treatment outcomes.

Pharmgenomics Pers Med 2017 12;10:169-181. Epub 2017 May 12.

Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.

Despite improvements in treatment of different types of leukemia, not all patients respond optimally for a particular treatment. Some treatments will work better for some, while being harmful or ineffective for others. This is due to genetic variation in the form of single-nucleotide polymorphisms (SNPs) that affect gene expression or function and cause inherited interindividual differences in the metabolism and disposition of drugs. Read More

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http://dx.doi.org/10.2147/PGPM.S105208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5438075PMC
May 2017
10 Reads

DNA methylation at the mu-1 opioid receptor gene () promoter predicts preoperative, acute, and chronic postsurgical pain after spine fusion.

Pharmgenomics Pers Med 2017 9;10:157-168. Epub 2017 May 9.

Pyrosequencing Core for Genomic and Epigenomic Research.

Introduction: The perioperative pain experience shows great interindividual variability and is difficult to predict. The mu-1 opioid receptor gene () is known to play an important role in opioid-pain pathways. Since deoxyribonucleic acid (DNA) methylation is a potent repressor of gene expression, DNA methylation was evaluated at the promoter, as a predictor of preoperative, acute, and chronic postsurgical pain (CPSP). Read More

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http://dx.doi.org/10.2147/PGPM.S132691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432115PMC
May 2017
51 Reads

Thiopurine S-methyltransferase polymorphisms in acute lymphoblastic leukemia, inflammatory bowel disease and autoimmune disorders: influence on treatment response.

Pharmgenomics Pers Med 2017 5;10:143-156. Epub 2017 May 5.

Departments of Pediatrics and Pharmacology, CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.

The () gene encodes for the TPMT enzyme that plays a crucial role in the metabolism of thiopurine drugs. Genetic polymorphisms in this gene can affect the activity of the TPMT enzyme and have been correlated with variability in response to treatment with thiopurines. Advances in the pharmacogenetics of allowed the development of dosing recommendations and treatment strategies to optimize and individualize prescribing thiopurine in an attempt to enhance treatment efficacy while minimizing toxicity. Read More

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http://dx.doi.org/10.2147/PGPM.S108123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5428801PMC
May 2017
24 Reads

ABCG2 polymorphisms in gout: insights into disease susceptibility and treatment approaches.

Pharmgenomics Pers Med 2017 20;10:129-142. Epub 2017 Apr 20.

Department of Biochemistry, University of Otago, Dunedin, New Zealand.

As a result of the association of a common polymorphism (, Q141K) in the ATP-binding cassette G2 (ABCG2) transporter with serum urate concentration in a genome-wide association study, it was revealed that ABCG2 is an important uric acid transporter. This review discusses the relevance of ABCG2 polymorphisms in gout, possible etiological mechanisms, and treatment approaches. The 141K ABCG2 urate-increasing variant causes instability in the nucleotide-binding domain, leading to decreased surface expression and function. Read More

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http://dx.doi.org/10.2147/PGPM.S105854DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404803PMC
April 2017
8 Reads

Pharmacogenetic testing revisited: 5' nuclease real-time polymerase chain reaction test panels for genotyping and .

Pharmgenomics Pers Med 2017 18;10:115-128. Epub 2017 Apr 18.

Laboratory Unit, Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark.

Due to their involvement in the metabolization of commonly prescribed psychopharmaceutical drugs, the cytochrome oxidase genes and are extensive targets for pharmacogenetic testing. The existence of common allelic variants allows the prediction of a metabolic phenotype based on a genotype result, hereby supplying a clinical tool for optimizing prescription and minimizing adverse effects. In this study, we present the development of two 5' nuclease real-time polymerase chain reaction (PCR) test panels, capable of detecting eight of the most clinically relevant alleles of the gene (*2, *3, *4, *6, *9, *10, 17, *41) and the three most common nonfunctional alleles of (*2, *3, *4). Read More

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http://dx.doi.org/10.2147/PGPM.S131580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5403119PMC
April 2017
10 Reads

polymorphism frequency in Russian patients in Central Russia and Siberia with acute coronary syndrome.

Pharmgenomics Pers Med 2017 12;10:107-114. Epub 2017 Apr 12.

Russian Medical Academy of Continuous Professional Education, Ministry of Health of the Russian Federation, Moscow.

Purpose: The aim of this study is to investigate the frequency of allelic variants, associated with poor response to clopidogrel, and , associated with excessive response to clopidogrel, in patients with acute coronary syndrome (ACS) from Siberia and Moscow regions of Russia.

Patients And Methods: The study included 512 ACS patients who were subsequently treated with coronary arterial stenting. The subjects assigned were from the cities of Central (Novosibirsk, Kemerovo), Eastern (Irkutsk), Northern (Surgut) Siberia regions and from Moscow region. Read More

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http://dx.doi.org/10.2147/PGPM.S126305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397026PMC
April 2017
28 Reads

Association of the c.249G>A variant with clinical outcomes of tacrolimus-based therapy in kidney transplant recipients.

Pharmgenomics Pers Med 2017 31;10:101-106. Epub 2017 Mar 31.

Department of Clinical and Toxicological Analysis, School of Pharmaceutical Sciences, University of Sao Paulo.

Background: The effects of genetic variants related to the pharmacodynamic mechanisms of immunosuppressive drugs on their therapeutic efficacy and safety have been poorly explored. This study was performed to investigate the influence of the c.249G>A variant on the clinical outcomes of kidney transplant recipients. Read More

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http://dx.doi.org/10.2147/PGPM.S131390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386607PMC
March 2017
30 Reads