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Pharmacogenomics

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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/28639501/from-pharmacogenetics-to-imaging-pharmacogenetics-elucidating-mechanisms-of-antidepressant-response
#2
Eva J Brandl, Henrik Walter
No abstract text is available yet for this article.
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28639493/pathway-analysis-to-identify-genetic-variants-associated-with-efficacy-of-adalimumab-in-rheumatoid-arthritis
#3
Frank Eektimmerman, Jesse J Swen, Stefan Böhringer, Tom Wj Huizinga, Wouter M Kooloos, Cornelia F Allaart, Henk-Jan Guchelaar
AIM: About 30% of rheumatoid arthritis patients have no clinical benefit from TNF inhibitors. Genome-wide association (GWA) and candidate gene studies tested several putative genetic variants for TNF inhibitor efficacy with inconclusive results. Therefore, this study applied a systematic pathway analysis. PATIENTS & METHODS: A total of 325 rheumatoid arthritis patients treated with adalimumab were genotyped for 223 SNPs. We tested the association between SNPs and European League Against Rheumatism response and remission at 14 weeks under the additive genetic model using logistic regression...
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28639489/healthcare-provider-education-to-support-integration-of-pharmacogenomics-in-practice-the-emerge-network-experience
#4
Carolyn R Rohrer Vitek, Noura S Abul-Husn, John J Connolly, Andrea L Hartzler, Terrie Kitchner, Josh F Peterson, Luke V Rasmussen, Maureen E Smith, Sarah Stallings, Marc S Williams, Wendy A Wolf, Cynthia A Prows
Ten organizations within the Electronic Medical Records and Genomics Network developed programs to implement pharmacogenomic sequencing and clinical decision support into clinical settings. Recognizing the importance of informed prescribers, a variety of strategies were used to incorporate provider education to support implementation. Education experiences with pharmacogenomics are described within the context of each organization's prior involvement, including the scope and scale of implementation specific to their Electronic Medical Records and Genomics projects...
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28639488/prenatal-exposure-to-serotonin-reuptake-inhibitors-and-congenital-heart-anomalies-an-exploratory-pharmacogenetics-study
#5
Aizati N A Daud, Jorieke E H Bergman, Wilhelmina S Kerstjens-Frederikse, Pieter van der Vlies, Eelko Hak, Rolf M F Berger, Henk Groen, Bob Wilffert
AIM: To explore the role of pharmacogenetics in determining the risk of congenital heart anomalies (CHA) with prenatal use of serotonin reuptake inhibitors. METHODS: We included 33 case-mother dyads and 2 mother-only (child deceased) cases of CHA in a case-only study. Ten genes important in determining fetal exposure to serotonin reuptake inhibitors were examined: CYP1A2, CYP2C9, CYP2C19, CYP2D6, ABCB1, SLC6A4, HTR1A, HTR1B, HTR2A and HTR3B. RESULTS: Among the exposed cases, polymorphisms that tended to be associated with an increased risk of CHA were SLC6A4 5-HTTLPR and 5-HTTVNTR, HTR1A rs1364043, HTR1B rs6296 and rs6298 and HTR3B rs1176744, but none reached statistical significance due to our limited sample sizes...
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28639487/mrp2-abcc2-c1515y-polymorphism-modulates-exposure-to-lumefantrine-during-artemether-lumefantrine-antimalarial-therapy
#6
Karin Vos, Carlotta Lo Sciuto, Rita Piedade, Michael Ashton, Anders Björkman, Billy Ngasala, Andreas Mårtensson, José Pedro Gil
AIM: To investigate the potential involvement of the hepatic ATP-binding cassette transporters MRP2 and MDR1 in the disposition of lumefantrine (LUM) among patients with uncomplicated Plasmodium falciparum malaria. MATERIALS & METHODS: The tag SNPs MDR1/ABCB1 C3435T and MRP2/ABCC2 C1515Y were determined in two artemether-LUM clinical trials, including a pharmacokinetic/pharmacodynamic study focused on the treatment phase (72 h), and an efficacy trial where day 7 (D7) LUM levels were measured...
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28639472/micrornas-as-a-tool-to-aid-stratification-of-colorectal-cancer-patients-and-to-guide-therapy
#7
Matthew Goblirsch, Georg Richtig, Ondrej Slaby, Ioana Berindan-Neagoe, Armin Gerger, Martin Pichler
Colorectal cancer is a common type of malignant disease with high rates of morbidity and mortality. Although treatment options have been expanded over the last years, the mainstay of curative treatment remains surgical removal of the tumor-bearing organ. Systemic treatment options include classic cytotoxic drugs as well as some biological agents. Noncoding RNAs are an evolving field in cancer diagnosis, prognosis and possible treatment. Noncoding miRNAs are small molecules with huge impact on gene expression...
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28639471/an-enhancer-haplotype-may-influence-bcl11a-expression-levels-and-the-response-to-hydroxyurea-in-%C3%AE-thalassemia-patients
#8
Nahal Maroofi, Azita Azarkeivan, Soosan Banihashemi, Saeid Mohammadparast, Ali Aghajanirefah, Mehdi Banan
AIM: To identify the BCL11A intron-2 enhancer linkage disequilibrium (LD) block, harboring two previously identified SNPs, associating with the hydroxyurea response in β-thalassemia patients and the functional significance of this region. MATERIALS & METHODS: Several neighboring SNPs were genotyped in our cohort. The associating LD block was identified, and its function studied in K562 erythroid cells via CRISPR/Cas9 genome editing. RESULTS: A haplotype harboring three tag SNPs correlated significantly with the HU-response and BCL11A transcript levels in the patients' reticulocytes...
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28639468/cyp2d6-and-cyp2c19-genotyping-in-psychiatric-patients-on-psychotropic-medication-in-the-former-dutch-antilles
#9
Anne B Koopmans, David J Vinkers, Petra Ja Gelan, Hans W Hoek, Peter N van Harten
AIM: This study was aimed to asses the prevalence of CYP2D6 and CYP2C19 polymorphisms in psychiatric patients and in volunteers from Dutch caribbean origin. METHODS: In total, 435 individuals were genotyped for CYP2D6 and CYP2C19. Of these, 269 were psychiatric patients on psychotropic medication, living in Curaçao and 166 were volunteers from the Dutch Caribbean population. RESULTS: No differences in prevalence of alleles were found. CONCLUSION: Although prevalence of alleles appeared to be very different from African and Caucasian populations, the distribution into predicted phenotypes shows an equal distribution as in Caucasians...
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28612644/methods-to-analyze-big-data-in-pharmacogenomics-research
#10
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/28604225/the-impact-of-clinical-and-genetic-factors-on-ticagrelor-and-clopidogrel-antiplatelet-therapy
#11
Vacis Tatarunas, Nora Kupstyte, Remigijus Zaliunas, Agne Giedraitiene, Vaiva Lesauskaite
AIM: To determine clinically significant factors which may alter the effect of dual antiplatelet therapy with aspirin and ticagrelor or clopidogrel in patients who had undergone percutaneous coronary intervention and stent implantation. MATERIALS & METHODS: The study included 378 patients. All the patients had undergone percutaneous coronary intervention and stent implantation. Platelet aggregation and genotyping for CYP2C19 *2 (rs4244285) and CYP4F2 (rs2108622, rs1558139, rs3093135 and rs2074902) was performed...
June 12, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28594321/pharmacogenomics-in-asia-a-systematic-review-on-current-trends-and-novel-discoveries
#12
Hazel Xiaohui Ang, Sze Ling Chan, Levana L Sani, Clarissa Bernice Quah, Liam R Brunham, Boon Ooi Patrick Tan, Michael D Winther
While early pharmacogenomic studies have primarily been carried out in Western populations, there has been a notable increase in the number of Asian studies over the past decade. We systematically reviewed all pharmacogenomic studies conducted in Asia published before 2016 to highlight trends and identify research gaps in Asia. We observed that pharmacogenomic research in Asia was dominated by larger developed countries, notably Japan and Korea, and mainly driven by local researchers. Studies were focused on drugs acting on the CNS, chemotherapeutics and anticoagulants...
June 8, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28594314/tailoring-of-recommendations-to-reduce-serious-cutaneous-adverse-drug-reactions-a-pharmacogenomics-approach
#13
Wei Chuen Tan-Koi, Cynthia Sung, Yong Yeow Chong, Aisha Lateef, Shiu Ming Pang, Archana Vasudevan, Derrick Aw, Nai Lee Lui, Shan Xian Lee, Ee Chee Ren, Evelyn Sc Koay, Yong Kwang Tay, Yen Loo Lim, Haur Yueh Lee, Di Dong, Celine Loke, Liesbet Tan, Michael Limenta, Edmund Jd Lee, Dorothy Toh, Cheng Leng Chan
The Health Sciences Authority launched a pharmacogenetics initiative in 2008 to facilitate evaluation of pharmacogenetics associations pertinent for Chinese, Malays and Indians in Singapore. The aim was to reduce the incidence and unpredictability of serious adverse drug reactions, with a focus on serious skin adverse drug reactions. This paper describes the gathering of evidence and weighing of factors that led to different genotyping recommendations for HLA-B*15:02 with carbamazepine and HLA-B*58:01 with allopurinol, despite both having strong genetic associations...
June 8, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28594304/role-of-vitamin-d-pathway-gene-polymorphisms-on-rifampicin-plasma-and-intracellular-pharmacokinetics
#14
Sarah Allegra, Giovanna Fatiguso, Andrea Calcagno, Lorena Baietto, Ilaria Motta, Fabio Favata, Jessica Cusato, Stefano Bonora, Giovanni Di Perri, Antonio D'Avolio
AIM: We retrospectively evaluate the pharmacogenetic role of single nucleotide polymorphisms involved in rifampicin transport (SLCO1B1, MDR1 and PXR genes) and vitamin D (VDR, CYP24A1 and CYP27B1 genes) metabolism and activity on drug plasma and intracellular concentrations. PATIENTS & METHODS: Rifampicin Cmax and Ctrough were measured at weeks 2 and 4 using Ultra-Performance Liquid Chromatography-tandem mass spectroscopy methods. Allelic discrimination was performed by real-time polymerase chain reaction...
June 8, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28594293/the-shiva01-trial-what-have-we-learned
#15
Christophe Le Tourneau, Maud Kamal, Ivan Bièche
No abstract text is available yet for this article.
June 8, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28594282/availability-of-cyp2d6-genotyping-results-in-general-practitioner-and-community-pharmacy-medical-records
#16
Mirjam Simoons, Hans Mulder, Robert A Schoevers, Henricus G Ruhé, Eric N van Roon
AIM: To investigate the availability of CYP450-2D6 (CYP2D6) genotyping results in general practitioner (GP) and/or community pharmacy records, and the influence thereof on psychotropic CYP2D6 substrate dosing. MATERIALS & METHODS: Primary outcome was the percentage of patients genotyped for CYP2D6 with their genotype/phenotype registered in GP and/or pharmacy records. Secondary outcome was the number of defined daily doses of psychotropic CYP2D6 substrates prescribed after genotyping...
June 8, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28594280/rapid-and-reliable-screening-of-hla-b-15-02-in-four-chinese-populations-using-single-tube-multiplex-real-time-pcr-assay
#17
Huijuan Wang, Xing Kang, Shaohe Zhou, Rong Chen, Zhengbin Liu, Min Han, Chao Chen, Yongkuan Gong
AIM:  HLA-B*15:02 screening should be performed to prevent antiepileptic drug induced severe cutaneous adverse reactions in populations of Asian origin. This study aimed to develop fast and reliable HLA-B*15:02 genotyping method and to investigate the distribution of HLA-B*15:02 in different Chinese ethnicities. MATERIALS & METHODS: A single-tube multiplex real-time PCR assay for HLA-B*15:02 genotyping was established by combining allele-specific primers with TaqMan probes...
June 8, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28594278/clinical-and-educational-impact-of-pharmacogenomics-testing-a-case-series-from-the-ingenious-trial
#18
Rebecca C Pierson, Brandon T Gufford, Zeruesenay Desta, Michael T Eadon
Pharmacogenomic testing has become increasingly widespread. However, there remains a need to bridge the gap between test results and providers lacking the expertise required to interpret these results. The Indiana Genomics Implementation trial is underway at our institution to examine total healthcare cost and patient outcomes after genotyping in a safety-net healthcare system. As part of the study, trial investigators and clinical pharmacology fellows interpret genotype results, review patient histories and medication lists and evaluate potential drug-drug interactions...
June 8, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28594276/pharmacological-factors-affecting-accumulation-of-gemcitabine-s-active-metabolite-gemcitabine-triphosphate
#19
Ivana Rizzuto, Essam Ghazaly, Godefridus J Peters
Gemcitabine is an anticancer agent acting against several solid tumors. It requires nucleoside transporters for cellular uptake and deoxycytidine kinase for activation into active gemcitabine-triphosphate, which is incorporated into the DNA and RNA. However, it can also be deaminated in the plasma. The intracellular level of gemcitabine-triphosphate is affected by scheduling or by combination with other chemotherapeutic regimens. Moreover, higher concentrations of gemcitabine-triphosphate may affect the toxicity, and possibly the clinical efficacy...
June 8, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28593824/should-cyp2d6-be-genotyped-when-treating-with-tamoxifen
#20
Marzia Del Re, Eleonora Rofi, Valentina Citi, Leonardo Fidilio, Romano Danesi
Letter in regards to: Del Re M, Rofi E, Citi V, Fidilio L, Danesi R. Should CYP2D6 be genotyped when treating with tamoxifen? Pharmacogenomics 17(18), 1967-1969 (2016). In response to: Damkier P. Don't think twice it's all right: tamoxifen and CYP2D6 genotyping in the treatment of breast cancer patients. Pharmacogenomics 18(8), XXX (2017).
June 8, 2017: Pharmacogenomics
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