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Pharmacogenomic data

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https://www.readbyqxmd.com/read/28639505/rationale-and-design-of-the-multiethnic-pharmacogenomics-in-childhood-asthma-consortium
#1
Niloufar Farzan, Susanne J Vijverberg, Anand K Andiappan, Lambang Arianto, Vojko Berce, Natalia Blanca-López, Hans Bisgaard, Klaus Bønnelykke, Esteban G Burchard, Paloma Campo, Glorisa Canino, Bruce Carleton, Juan C Celedón, Fook Tim Chew, Wen Chin Chiang, Michelle M Cloutier, Denis Daley, Herman T Den Dekker, Nicole F Dijk, Liesbeth Duijts, Carlos Flores, Erick Forno, Daniel B Hawcutt, Natalia Hernandez-Pacheco, Johan C de Jongste, Michael Kabesch, Gerard H Koppelman, Vangelis G Manolopoulos, Erik Melén, Somnath Mukhopadhyay, Sara Nilsson, Colin N Palmer, Maria Pino-Yanes, Munir Pirmohamed, Uros Potočnki, Jan A Raaijmakers, Katja Repnik, Maximilian Schieck, Yang Yie Sio, Rosalind L Smyth, Csaba Szalai, Kelan G Tantisira, Steve Turner, Marc P van der Schee, Katia M Verhamme, Anke H Maitland-van der Zee
AIM: International collaboration is needed to enable large-scale pharmacogenomics studies in childhood asthma. Here, we describe the design of the Pharmacogenomics in Childhood Asthma (PiCA) consortium. MATERIALS & METHODS: Investigators of each study participating in PiCA provided data on the study characteristics by answering an online questionnaire. RESULTS: A total of 21 studies, including 14,227 children/young persons (58% male), from 12 different countries are currently enrolled in the PiCA consortium...
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28623316/revealing-protein-networks-and-gene-drug-connectivity-in-cancer-from-direct-information
#2
Xian-Li Jiang, Emmanuel Martinez-Ledesma, Faruck Morcos
The connection between genetic variation and drug response has long been explored to facilitate the optimization and personalization of cancer therapy. Crucial to the identification of drug response related genetic features is the ability to separate indirect correlations from direct correlations across abundant datasets with large number of variables. Here we analyzed proteomic and pharmacogenomic data in cancer tissues and cell lines using a global statistical model connecting protein pairs, genes and anti-cancer drugs...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28612644/methods-to-analyze-big-data-in-pharmacogenomics-research
#3
Ruowang Li, Dokyoon Kim, Marylyn D Ritchie
The scale and scope of pharmacogenomics research continues to expand as the cost and efficiency of molecular data generation techniques advance. These new technologies give rise to enormous opportunity for the identification of important genetic and genomic factors important for drug treatment response. With this opportunity come significant challenges. Most of these can be categorized as 'big data' issues, facing not only pharmacogenomics, but other fields in the life sciences as well. In this review, we describe some of the analysis techniques and tools being implemented for genetic/genomic discovery in pharmacogenomics...
June 14, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28607508/systematic-review-and-meta-analysis-pharmacogenetics-of-anti-tnf-treatment-response-in-rheumatoid-arthritis
#4
REVIEW
S Bek, A B Bojesen, J V Nielsen, J Sode, S Bank, U Vogel, V Andersen
Rheumatoid arthritis (RA) is a chronic inflammatory disease that affects ~1% of the Caucasian population. Over the last decades, the availability of biological drugs targeting the proinflammatory cytokine tumour necrosis factor α, anti-TNF drugs, has improved the treatment of patients with RA. However, one-third of the patients do not respond to the treatment. We wanted to evaluate the status of pharmacogenomics of anti-TNF treatment. We performed a PubMed literature search and all studies reporting original data on associations between genetic variants and anti-TNF treatment response in RA patients were included and results evaluated by meta-analysis...
June 13, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28607505/predictive-genetic-markers-in-neoadjuvant-chemoradiotherapy-for-locally-advanced-esophageal-cancer-a-long-way-to-go-review-of-the-literature
#5
REVIEW
M Gusella, E Pezzolo, Y Modena, C Barile, D Menon, G Crepaldi, F La Russa, A P Fraccon, F Pasini
The role of genetic molecular markers in neoadjuvant treatment for locally advanced esophageal cancer has been reviewed, focusing strictly on concurrent chemoradiation protocols followed by surgery. Eleven studies evaluated the role of mRNA expression profile; the end point was overall survival (OS) in two studies and different definitions of histological response in nine. Genes reported as significant were involved in cell cycle control (30), apoptosis (7), structural molecules (9), cell metabolism (6) and DNA repair (1)...
June 13, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28607504/on-the-readiness-of-physicians-for-pharmacogenomics-testing-an-empirical-assessment
#6
N Amara, J Blouin-Bougie, D Bouthillier, J Simard
This paper aims to explore the determinants of adoption of pharmacogenomics (PGx) testing by clinicians, and to assess whether this adoption differs with regard to area of specialization. Data were collected from a web-based survey among physicians in Québec (Canada). Our results highlighted that they perceived several benefits and had favorable attitudes toward PGx tests, but felt unprepared to use them. Results also show that practice specialties matter. Notably, being a family physician decreases the likelihood of adopting PGx tests...
June 13, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28592190/genetic-variants-associated-with-warfarin-dosage-in-kuwaiti-population
#7
Sumi Elsa John, Dinu Antony, Muthukrishnan Eaaswarkhanth, Prashantha Hebbar, Fadi Alkayal, Jaakko Tuomilehto, Osama Alsmadi, Thangavel Alphonse Thanaraj
Assessing the distinct prevalence or absence of genetic variants associated with differential response to the anticoagulant medication of warfarin in different population groups is actively pursued by pharmacogenomics community. Populations from Arabian Peninsula are underrepresented in such studies. By way of examining exome- and genome-wide genotype data from 1395 Arab individuals in Kuwait, we report distinct occurrence of warfarin response-related variants rs12460590_A/CYP2A7, rs2108622_T/CYP4F2, rs2884737_C/VKORC1 and distinct absence of rs11150606_C/PRSS53 in Kuwaiti population...
June 8, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28587608/integrating-clinical-decision-support-systems-for-pharmacogenomic-testing-into-clinical-routine-a-scoping-review-of-designs-of-user-system-interactions-in-recent-system-development
#8
Marc Hinderer, Martin Boeker, Sebastian A Wagner, Martin Lablans, Stephanie Newe, Jan L Hülsemann, Michael Neumaier, Harald Binder, Harald Renz, Till Acker, Hans-Ulrich Prokosch, Martin Sedlmayr
BACKGROUND: Pharmacogenomic clinical decision support systems (CDSS) have the potential to help overcome some of the barriers for translating pharmacogenomic knowledge into clinical routine. Before developing a prototype it is crucial for developers to know which pharmacogenomic CDSS features and user-system interactions have yet been developed, implemented and tested in previous pharmacogenomic CDSS efforts and if they have been successfully applied. We address this issue by providing an overview of the designs of user-system interactions of recently developed pharmacogenomic CDSS...
June 6, 2017: BMC Medical Informatics and Decision Making
https://www.readbyqxmd.com/read/28583437/prediction-of-synergistic-anti-cancer-drug-combinations-based-on-drug-target-network-and-drug-induced-gene-expression-profiles
#9
Xiangyi Li, Yingjie Xu, Hui Cui, Tao Huang, Disong Wang, Baofeng Lian, Wei Li, Guangrong Qin, Lanming Chen, Lu Xie
OBJECTIVE: Synergistic drug combinations are promising therapies for cancer treatment. However, effective prediction of synergistic drug combinations is quite challenging as mechanisms of drug synergism are still unclear. Various features such as drug response, and target networks may contribute to prediction of synergistic drug combinations. In this study, we aimed to construct a computational model to predict synergistic drug combinations. METHODS: We designed drug physicochemical features and network features, including drug chemical structure similarity, target distance in protein-protein network and targeted pathway similarity...
June 2, 2017: Artificial Intelligence in Medicine
https://www.readbyqxmd.com/read/28571507/the-genetic-basis-of-antiplatelet-and-anticoagulant-therapy-a-pharmacogenetic-review-of-newer-antiplatelets-clopidogrel-prasugrel-and-ticagrelor-and-anticoagulants-dabigatran-rivaroxaban-apixaban-and-edoxaban
#10
Cormac T O'connor, Thomas J Kiernan, Bryan P Yan
The study of pharmacogenomics presents the possibility of individualised optimisation of drug therapy tailored to each patients' unique physiological traits. Both antiplatelet and anticoagulant drugs play a key role in the management of cardiovascular disease. Despite their importance, there is a substantial volume of literature to suggest marked person-to-person variability in their effect. Areas covered: This article reviews the data available for the genetic cause for this inter-patient variability of antiplatelet and anticoagulant drugs...
June 13, 2017: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/28557243/the-use-of-electronic-health-records-for-psychiatric-phenotyping-and-genomics
#11
REVIEW
Jordan W Smoller
The widespread adoption of electronic health record (EHRs) in healthcare systems has created a vast and continuously growing resource of clinical data and provides new opportunities for population-based research. In particular, the linking of EHRs to biospecimens and genomic data in biobanks may help address what has become a rate-limiting study for genetic research: the need for large sample sizes. The principal roadblock to capitalizing on these resources is the need to establish the validity of phenotypes extracted from the EHR...
May 30, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28546997/pharmacogenomic-findings-from-clinical-whole-exome-sequencing-of-diagnostic-odyssey-patients
#12
Margot A Cousin, Eric T Matey, Patrick R Blackburn, Nicole J Boczek, Tammy M McAllister, Teresa M Kruisselbrink, Dusica Babovic-Vuksanovic, Konstantinos N Lazaridis, Eric W Klee
BACKGROUND: We characterized the pharmacogenomics (PGx) results received by diagnostic odyssey patients as secondary findings during clinical whole exome sequencing (WES) testing as a part of their care in Mayo Clinic's Individualized Medicine Clinic to determine the potential benefits and limitations to this cohort. METHODS: WES results on 94 patients included a subset of PGx variants in CYP2C19,CYP2C9, and VKORC1 if identified in the patient. Demographic, phenotypic, and medication usage information was abstracted from patient medical data...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28534527/role-of-the-ugt2b17-deletion-in-exemestane-pharmacogenetics
#13
S Luo, G Chen, C Truica, C C Baird, K Leitzel, P Lazarus
Exemestane (EXE) is an aromatase inhibitor used for the prevention and treatment of breast cancer. The major metabolic pathway for EXE is reduction to form the active 17β-dihydro-EXE (17β-DHE) and subsequent glucuronidation to 17β-hydroxy-EXE-17-O-β-D-glucuronide (17β-DHE-Gluc) by UGT2B17. The aim of the present study was to determine the effects of UGT2B17 copy number variation on the levels of urinary and plasma 17β-DHE-Gluc and 17β-DHE in patients taking EXE. Ninety-six post-menopausal Caucasian breast cancer patients with ER+ breast tumors taking 25 mg EXE daily were recruited into this study...
May 23, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28514737/integration-of-phytochemicals-and-phytotherapy-into-cancer-precision-medicine
#14
REVIEW
Thomas Efferth, Mohamed E M Saeed, Elhaj Mirghani, Awadh Alim, Zahir Yassin, Elfatih Saeed, Hassan E Khalid, Salah Daak
Concepts of individualized therapy in the 1970s and 1980s attempted to develop predictive in vitro tests for individual drug responsiveness without reaching clinical routine. Precision medicine attempts to device novel individual cancer therapy strategies. Using bioinformatics, relevant knowledge is extracted from huge data amounts. However, tumor heterogeneity challenges chemotherapy due to genetically and phenotypically different cell subpopulations, which may lead to refractory tumors. Natural products always served as vital resources for cancer therapy (e...
April 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28508787/the-importance-of-gene-drug-drug-interactions-in-pharmacogenomics-decision-support-an-analysis-based-on-austrian-claims-data
#15
Kathrin Blagec, Wolfgang Kuch, Matthias Samwald
While pharmacogenomic testing combined with clinical decision support has the potential to increase the safety and efficacy of medical treatments, the intake of multiple prescription drugs can - if not sufficiently addressed by decision support solutions - impair the effectiveness of such interventions by modulating the capacity of precisely those enzymes whose function pharmacogenomic tests try to predict. We quantified the potential extent of such drug-mediated mismatches between genotype-derived phenotypes and real phenotypes, commonly called "phenoconversion", by screening claims data from 1,587,829 Austrian health insurance holders of the years 2006 and 2007 for concomitant prescriptions of drugs that can be dosed based on pharmacogenomics, and drugs that modulate enzyme activity...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28486096/key-pharmacogenomic-considerations-for-sickle-cell-disease-patients
#16
Alexandra Kolliopoulou, Apostolos Stratopoulos, Stavroula Siamoglou, Argyro Sgourou, Bassam R Ali, Adamantia Papachatzopoulou, Theodora Katsila, George P Patrinos
Sickle cell disease (SCD), although a monogenic disease, exhibits a complex clinical phenotype that hampers optimum patient stratification and disease management, especially on hydroxyurea treatment. Moreover, theranostics, the combination of diagnostics to individualize and optimize therapeutic interventions, has not been firmly on the forefront of SCD research and clinical management to date. We suggest that if tailor-made theranostics in SCD is envisaged, pharmacogenomics is anticipated to be the way forward...
June 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28485121/prophylaxis-of-migraine-headaches-with-riboflavin-a-systematic-review
#17
REVIEW
D F Thompson, H S Saluja
WHAT IS KNOWN AND OBJECTIVE: Migraine headache is a relatively common, debilitating condition that costs our healthcare system over 78 billion dollars per year. Riboflavin has been advocated as a safe, effective prophylactic therapy for the prevention of migraines. The purpose of this study was to provide a systematic review of the current role of riboflavin in the prophylaxis of migraine headache. METHODS: A MEDLINE literature search inclusive of the dates 1966-2016 was performed using the search terms: riboflavin and migraine disorders...
May 8, 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/28468529/pharmacogenomics-in-pediatric-acute-lymphoblastic-leukemia-promises-and-limitations
#18
Zeina N Al-Mahayri, George P Patrinos, Bassam R Ali
Despite the significant advances achieved in pediatric acute lymphocytic leukemia (ALL) treatment, adverse side effects of drugs remain a challenging issue. Numerous ALL pharmacogenomic studies have been conducted to elucidate the predisposing genetic factors for their development. Plausible pharmacogenomic data are available for the osteonecrosis associated with glucocorticoids, the neurotoxicity associated with vincristine and the cardiotoxicity related to anthracyclines. However, these data have not been fully translated into the clinic due to several limitations, most importantly the lack of reliable evidence...
May 4, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28456840/rapid-evidence-review-of-the-comparative-effectiveness-harms-and-cost-effectiveness-of-pharmacogenomics-guided-antidepressant-treatment-versus-usual-care-for-major-depressive-disorder
#19
REVIEW
Kimberly Peterson, Eric Dieperink, Johanna Anderson, Erin Boundy, Lauren Ferguson, Mark Helfand
OBJECTIVE: This study aims to conduct an evidence review of the effectiveness, harms, and cost-effectiveness of pharmacogenomics-guided antidepressant treatment for major depressive disorder. METHODS: We searched MEDLINE®, the Cochrane Central Registry of Controlled Trials, and PsycINFO through February 2017. We used prespecified criteria to select studies, abstract data, and rate internal validity and strength of the evidence (PROSPERO number CRD42016036358). RESULTS: We included two randomized trials (RCT), five controlled cohort studies, and six modeling studies of mostly women in their mid-40s with few comorbidities...
April 29, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/28451949/interaction-between-the-haptoglobin-genotype-and-vitamin-e-on-cardiovascular-disease-in-diabetes
#20
REVIEW
Irit Hochberg, Elliot M Berinstein, Uzi Milman, Chen Shapira, Andrew P Levy
PURPOSE OF REVIEW: Despite compelling evidence regarding the importance of oxidant stress in the development of vascular complications and observational studies suggesting that vitamin E may be protective from these complications, multiple clinical trials have failed to show benefit from vitamin E supplementation in the prevention of vascular complications in diabetes. One possible explanation for this failure of vitamin E may have been inappropriate patient selection. This review seeks to provide the clinical evidence and mechanistic basis for why a subset of individuals defined by their haptoglobin (Hp) genotype may derive cardiovascular protection by vitamin E supplementation...
June 2017: Current Diabetes Reports
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