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Christina Mitropoulou, Vasilios Fragoulakis, Ljiljana B Rakicevic, Mirjana M Novkovic, Athanassios Vozikis, Dragan M Matic, Nebojsa M Antonijevic, Dragica P Radojkovic, Ron H van Schaik, George P Patrinos
INTRODUCTION: Clopidogrel, which is activated by the CYP2C19 enzyme, is among the drugs for which all major regulatory agencies recommend genetic testing to be performed to identify a patient's CYP2C19 genotype in order to determine the optimal antiplatelet therapeutic scheme. The CYP2C19*2 and CYP2C19*3 variants are loss-of-function alleles, leading to abolished CYP2C19 function and thus have the risk of thrombotic events for carriers of these alleles on standard dosages, while the CYP2C19*17 allele results in CYP2C19 hyperactivity...
October 21, 2016: Pharmacogenomics
Cristina Longo, Vasiliki Rahimzadeh, Kieran O'Doherty, Gillian Bartlett
AIM: Primary care physicians will play a central role in the successful implementation of pharmacogenomics (PGx); however, important challenges remain. We explored the perspectives of stakeholders on key challenges of the PGx translation process in primary care using deliberative consultations. METHODS: Primary care physicians, patients and policy-makers attended deliberations, where they discussed four ethical questions raised by PGx research and implementation in the primary care context...
October 21, 2016: Pharmacogenomics
Aikaterini Gravia, Vasiliki Chondrou, Alexandra Kolliopoulou, Alexandra Kourakli, Anne John, Argyris Symeonidis, Bassam R Ali, Argyro Sgourou, Adamantia Papachatzopoulou, Theodora Katsila, George P Patrinos
AIMS: Hemoglobinopathies, particularly β-thalassemia and sickle cell disease, are characterized by great phenotypic variability in terms of disease severity, while notable differences have been observed in hydroxyurea treatment efficacy. In both cases, the observed phenotypic diversity is mostly dependent on the elevated fetal hemoglobin levels, resulting from the persistent fetal globin gene expression in the adult erythroid stage orchestrated by intricate mechanisms that still remain only partly understood...
October 21, 2016: Pharmacogenomics
Vinicius A Sortica, Juliana D Lindenau, Maristela G Cunha, Maria DO Ohnishi, Ana Maria R Ventura, Ândrea Kc Ribeiro-Dos-Santos, Sidney Eb Santos, Luciano Sp Guimarães, Mara H Hutz
BACKGROUND: Chloroquine/primaquine is the current therapy to eliminate Plasmodium vivax infection in the Amazon region. AIMS: This study investigates CYP1A2, CYP2C8, CYP2C9, CYP3A4 and CYP3A5 genetic polymorphisms influence on cloroquine/primaquine treatment. PATIENTS & METHODS: Generalized estimating equations analyses were performed to determine the genetic influence in parasitemia and/or gametocytemia clearance over treatment time in 164 patients...
October 21, 2016: Pharmacogenomics
Ambily Sivadas, Parul Sharma, Vinod Scaria
AIM: Pharmacogenetic landscapes of commonly used antiplatelet drugs, warfarin and clopidogrel have been studied in-depth in many countries. However, there is a paucity of data to understand their patterns in the Arab populations. MATERIALS & METHODS: We analyzed the whole exome sequencing datasets of 100 Qatar individuals available in public domain with this perspective. RESULTS: We characterized the allelic distribution of variants routinely tested for warfarin and clopidogrel...
October 21, 2016: Pharmacogenomics
Andrew Kl Goey, Tristan M Sissung, Cody J Peer, William D Figg
The histone deacetylase inhibitor valproic acid (VPA) has been used for many decades in neurology and psychiatry. The more recent introduction of the histone deacetylase inhibitors (HDIs) belinostat, romidepsin and vorinostat for treatment of hematological malignancies indicates the increasing popularity of these agents. Belinostat, romidepsin and vorinostat are metabolized or transported by polymorphic enzymes or drug transporters. Thus, genotype-directed dosing could improve pharmacotherapy by reducing the risk of toxicities or preventing suboptimal treatment...
October 21, 2016: Pharmacogenomics
Ange C Iliza, Alexis Matteau, Jason R Guertin, Dominic Mitchell, Fiorella Fanton-Aita, Anick Dubois, Marie-Pierre Dubé, Jean-Claude Tardif, Jacques LeLorier
Pharmacogenomics (PGx) tests have the potential of improving the effectiveness of expensive new drugs by predicting the likelihood, for a particular patient, to respond to a treatment. The objective of this study was to develop a pharmacoeconomic model to determine the characteristics and the cost-effectiveness of a hypothetical PGx test, which would identify patients who are most likely to respond to an expensive treatment for chronic heart failure. For this purpose, we chose the example of ivabradine. Our results suggest that the use of a PGx test that could select a subgroup of patients to be treated with an expensive drug has the potential to provide more efficient drug utilization...
October 10, 2016: Pharmacogenomics
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No abstract text is available yet for this article.
October 2016: Pharmacogenomics
Nicholas Syn, Soo-Chin Lee, Boon-Cher Goh, Wei-Peng Yong
No abstract text is available yet for this article.
October 2016: Pharmacogenomics
Shiming Wang, Xiao Song, Xiaoying Li, Xueying Zhao, Hongyan Chen, Jiucun Wang, Junjie Wu, Zhiqiang Gao, Ji Qian, Baohui Han, Chunxue Bai, Qiang Li, Daru Lu
AIM: We investigated the association between RICTOR polymorphisms and clinical outcomes of platinum-based chemotherapy for Chinese non-small-cell lung cancer patients. MATERIALS & METHODS: Ten tag SNPs were genotyped in 1004 patients to assess their association with clinical benefit, overall survival, progression-free survival, gastrointestinal toxicity, neutropenia, anemia and thrombocytopenia. RESULTS: rs6878291 was significantly associated with clinical benefit (odds ratio: 2...
October 2016: Pharmacogenomics
Aurea Lima, Miguel Bernardes, Rita Azevedo, Vitor Seabra, Rui Medeiros
AIM: Evaluate the potential of selected SNPs as predictors of methotrexate (MTX) therapeutic outcome. PATIENTS & METHODS: In total, 35 SNPs in 14 genes involved in MTX intracellular pathways and Phase II reactions were genotyped in 233 rheumatoid arthritis (RA) patients treated with MTX. Binary logistic regressions were performed by genotype/haplotype-based approaches. Non-Response- and Toxicity-Genetic Risk Indexes (Non-RespGRI and ToxGRI) were created. RESULTS: MTX nonresponse was associated to eight genotypes and three haplotypes: MTHFR rs1801131 AA and rs1801133 TT; MS rs1805087 AA; MTRR rs1801394 A carriers; ATIC rs2372536 C carriers, rs4673993 T carriers, rs7563206 T carriers and rs12995526 T carriers; CC for GGH rs3758149 and rs12681874; CGTTT for ATIC combination 1; and CTTTC for ATIC combination 2...
October 2016: Pharmacogenomics
Aline Hajj, Rima Chedid, Eliane Chouery, André Megarbané, Marie-Hélène Gannagé-Yared
AIM: To explore the association between VDR polymorphisms and several cardiovascular risk factors and adiponectin. MATERIALS & METHODS: Three-hundred and sixty-nine healthy students were randomly selected. Five VDR polymorphisms were genotyped: BsmI rs1544410; Cdx2 rs11568820; ApaI rs7975232; TaqI rs731236 and FokI rs2228570. BMI, waist circumference (WC), blood pressure, lipid/glycemic profiles and adiponectin were assessed. RESULTS: In men, BsmI, ApaI and TaqI were associated with BMI and WC (p < 0...
October 2016: Pharmacogenomics
Roelof Aj Smit, Iris Postmus, Stella Trompet, Michael R Barnes, Helen Warren, Benoit J Arsenault, Daniel I Chasman, L Adrienne Cupples, Graham A Hitman, Ronald M Krauss, Xiaohui Li, Bruce M Psaty, Charles M Stein, Jerome I Rotter, J Wouter Jukema
AIMS: To utilize previously reported lead SNPs for low-density lipoprotein cholesterol (LDL-c) levels to find additional loci of importance to statin response, and examine whether genetic predisposition to LDL-c levels associates with differential statin response. METHODS: We investigated effects on statin response of 59 LDL-c SNPs, by combining summary level statistics from the Global Lipids Genetics and Genomic Investigation of Statin Therapy consortia. RESULTS: Lead SNPs for APOE, SORT1 and NPC1L1 were associated with a decreased LDL-c response to statin treatment, as was overall genetic predisposition for increased LDL-c levels as quantified with 59 SNPs, with a 5...
October 2016: Pharmacogenomics
Susanne B Haga, Rachel Mills, Jivan Moaddeb, Nancy Allen Lapointe, Alex Cho, Geoffrey S Ginsburg
AIM: To investigate patient experiences with pharmacogenetic (PGx) testing. METHODS: Patients were offered PGx testing through a study on pharmacist-assisted delivery of PGx testing and invited to complete pre- and post-testing surveys about their experience. RESULTS: Of 63 patients tested, 17 completed the baseline survey (27%). Interest in testing was mostly impacted by desire to inform selection of best treatment (n = 13). Seven of 12 patients that completed the follow-up survey indicated that their provider discussed the test result with them...
October 2016: Pharmacogenomics
Katie A McCrink, Ava Brill, Malika Jafferjee, Thairy Reyes Valero, Christine Marrero, Martha M Rodriguez, Genevieve M Hale, Anastasios Lymperopoulos
AIM: The β1-adrenergic receptor (AR) Arg389Gly polymorphism affects efficacy of its procontractile signaling in cardiomyocytes and carriers' responses to β-blockers. To identify molecular mechanisms underlying functional differences between Arg389 and Gly389 β1ARs, we examined their binding to β-arrestins (βarr-1 and -2), which mediate β1AR signaling, in neonatal rat ventricular myocytes. METHODS: We tested the β1AR-βarr interaction via β1AR immunoprecipitation followed by βarr immunoblotting...
October 2016: Pharmacogenomics
Adel Shahnam, Zainab Ridha, Michael D Wiese, Ganessan Kichenadasse, Michael J Sorich
AIMS: Oxaliplatin-based chemotherapy for colorectal cancer demonstrates interindividual variability in response, and polymorphisms of ERCC1, ERCC2, XRCC1, GSTP1 and GSTM1 genes may be contributing factors. Additionally, the effect of these genotypes may differ between ethnic groups. Material & Methods: A meta-analysis of the association between these genotypes and response, progression-free survival and overall survival (OS) for patients with colorectal cancer treated with oxaliplatin-based therapy is reported...
October 2016: Pharmacogenomics
Biljana Jekic, Dubravka Vejnovic, Vera Milic, Nela Maksimovic, Tatjana Damnjanovic, Vera Bunjevacki, Ivana Novakovic, Ljiljana Lukovic, Nemanja Damjanov, Maja Krajinovic
AIM: Our aim was to explore the influence of 9-bp insertion/deletion and variable number of 9 bp elements (63/91) length polymorphism in noncoding interfering RNA and major promoter of DHFR gene on methotrexate (MTX) efficacy and toxicity in patients with rheumatoid arthritis (RA). PATIENTS & METHODS: Response to the MTX therapy and adverse effects were estimated in 243 RA patients genotyped for the selected polymorphism. RESULTS: The presence of allele 1 of analyzed polymorphism had significant protective effect against MTX toxicity (odds ratio: 0...
October 2016: Pharmacogenomics
Carolina Céspedes-Garro, María-Eugenia G Naranjo, Fernanda Rodrigues-Soares, Adrián LLerena, Jorge Duconge, Lazara K Montané-Jaime, Hilda Roblejo, Humberto Fariñas, María de Los A Campos, Ronald Ramírez, Víctor Serrano, Carmen I Villagrán, Eva M Peñas-LLedó
AIM: The present review was aimed at analyzing the pharmacogenetic scientific activity in Central America and the Caribbean. MATERIALS & METHODS: A literature search for pharmacogenetic studies in each country of the region was conducted on three databases using a list of the most relevant pharmacogenetic biomarkers including 'phenotyping probe drugs' for major drug metabolizing enzymes. The review included 132 papers involving 47 biomarkers and 35,079 subjects (11,129 healthy volunteers and 23,950 patients)...
October 2016: Pharmacogenomics
Rihab Nasr, Fatima Sleiman, Zeinab Awada, Natalie K Zgheib
The focus of this manuscript is on DNA methylation and miRNA regulation of drug-metabolizing enzymes and drug transporters involved in the disposition of drugs commonly used in breast cancer. We start with a review of the available scant literature and follow with an in silico analysis of the CpG islands and miRNA binding sites of genes of interest. We make the case that there is room for further research to include more genes and miRNAs despite the extensive sharing of miRNA targets by candidate genes of interest...
September 2016: Pharmacogenomics
Elena De Mattia, Erika Cecchin, Rossana Roncato, Giuseppe Toffoli
Great research effort has been focused on elucidating the contribution of host genetic variability on pharmacological outcomes in cancer. Nuclear receptors have emerged as mediators between environmental stimuli and drug pharmacokinetics and pharmacodynamics. The pregnane X receptor, constitutive androstane receptor and hepatocyte nuclear factors have been reported to regulate transcription of genes that encode drug metabolizing enzymes and transporters. Altered nuclear receptor expression has been shown to affect the metabolism and pharmacological profile of traditional chemotherapeutics and targeted agents...
September 2016: Pharmacogenomics
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