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Pharmacogenetics

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https://www.readbyqxmd.com/read/28534527/role-of-the-ugt2b17-deletion-in-exemestane-pharmacogenetics
#1
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/28534260/pharmacogenetics-of-cannabinoids
#2
Szymon Hryhorowicz, Michal Walczak, Oliwia Zakerska-Banaszak, Ryszard Słomski, Marzena Skrzypczak-Zielińska
Although the application of medical marijuana and cannabinoid drugs is controversial, it is a part of modern-day medicine. The list of diseases in which cannabinoids are promoted as a treatment is constantly expanding. Cases of significant improvement in patients with a very poor prognosis of glioma or epilepsy have already been described. However, the occurrence of side effects is still difficult to estimate, and the current knowledge of the therapeutic effects of cannabinoids is still insufficient. In our opinion, the answers to many questions and concerns regarding the medical use of cannabis can be provided by pharmacogenetics...
May 22, 2017: European Journal of Drug Metabolism and Pharmacokinetics
https://www.readbyqxmd.com/read/28528365/the-value-of-evidence-in-the-decision-making-process-for-reimbursement-of-pharmacogenetic-dosing-of-warfarin
#3
Andrej Janzic, Igor Locatelli, Mitja Kos
BACKGROUND: After early clinical trials that evaluated pharmacogenetic (PG) algorithms, many healthcare payers were reluctant to cover this technology and, consequently, PG dosing of warfarin could not be translated into clinical practice. OBJECTIVE: The aim of this study was to estimate the value of upgrading evidence relating to PG dosing of warfarin from the healthcare payer perspective. METHODS: Randomized controlled trials (RCTs) that evaluated PG dosing of warfarin were identified through a systematic literature search, and their findings were combined by a cumulative meta-analysis...
May 20, 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/28526553/hypothalamic-regulation-of-the-sleep-wake-cycle
#4
REVIEW
Daisuke Ono, Akihiro Yamanaka
Sleep is one of the most important physiological functions in mammals. It is regulated by not only homeostatic regulation but also circadian clock. Several neuropeptide-producing neurons located in the hypothalamus are implicated in the regulation of sleep/wakefulness. Among them, orexin/hypocretin-producing neurons (orexin neurons) are a crucial component for maintenance of wakefulness, because lack of orexin function results in narcolepsy, which is a sleep disorder. Recent findings have identified substances that excite or inhibit neural activity of orexin neurons...
May 16, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/28525968/survivalgwas_sv-software-for-the-analysis-of-genome-wide-association-studies-of-imputed-genotypes-with-time-to-event-outcomes
#5
Hamzah Syed, Andrea L Jorgensen, Andrew P Morris
BACKGROUND: Analysis of genome-wide association studies (GWAS) with "time to event" outcomes have become increasingly popular, predominantly in the context of pharmacogenetics, where the survival endpoint could be death, disease remission or the occurrence of an adverse drug reaction. However, methodology and software that can efficiently handle the scale and complexity of genetic data from GWAS with time to event outcomes has not been extensively developed. RESULTS: SurvivalGWAS_SV is an easy to use software implemented using C# and run on Linux, Mac OS X & Windows operating systems...
May 19, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28514446/identification-of-preoptic-sleep-neurons-using-retrograde-labelling-and-gene-profiling
#6
Shinjae Chung, Franz Weber, Peng Zhong, Chan Lek Tan, Thuc Nghi Nguyen, Kevin T Beier, Nikolai Hörmann, Wei-Cheng Chang, Zhe Zhang, Johnny Phong Do, Shenqin Yao, Michael J Krashes, Bosiljka Tasic, Ali Cetin, Hongkui Zeng, Zachary A Knight, Liqun Luo, Yang Dan
In humans and other mammalian species, lesions in the preoptic area of the hypothalamus cause profound sleep impairment, indicating a crucial role of the preoptic area in sleep generation. However, the underlying circuit mechanism remains poorly understood. Electrophysiological recordings and c-Fos immunohistochemistry have shown the existence of sleep-active neurons in the preoptic area, especially in the ventrolateral preoptic area and median preoptic nucleus. Pharmacogenetic activation of c-Fos-labelled sleep-active neurons has been shown to induce sleep...
May 17, 2017: Nature
https://www.readbyqxmd.com/read/28507448/thiopurine-s-methyltransferase-polymorphisms-in-acute-lymphoblastic-leukemia-inflammatory-bowel-disease-and-autoimmune-disorders-influence-on-treatment-response
#7
REVIEW
Rachid Abaji, Maja Krajinovic
The thiopurine S-methyltransferase (TPMT) 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 TPMT 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...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28506866/non-maturational-covariates-for-dynamic-systems-pharmacology-models-in-neonates-infants-and-children-filling-the-gaps-beyond-developmental-pharmacology
#8
Karel Allegaert, Sinno H P Simons, Dick Tibboel, Elke Krekels, Catherijne Knibbe, John van den Anker
Pharmacokinetics and -dynamics show important changes throughout childhood. Studies on the different maturational processes that influence developmental pharmacology have been used to create population PK/PD models that can yield individualized pediatric drug dosages. These models were subsequently translated to semi-physiologically or physiology-based PK (PBPK) models that support predictions in pediatric patient cohorts and other special populations. Although these translational efforts are crucial, these models should be further improved towards individual patient predictions by including knowledge on non-maturational covariates...
May 12, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28505940/re-treatment-with-human-recombinant-fsh-improves-sperm-dna-fragmentation-in-idiopathic-infertile-men-depending-on-the-fsh-receptor-polymorphism-p-n680s-a-pharmacogenetic-study
#9
https://www.readbyqxmd.com/read/28504390/identification-of-pharmacogenetic-markers-of-treatment-response-to-biologic-therapies-in-psoriasis-is-there-a-benefit
#10
C Ryan
No abstract text is available yet for this article.
May 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28502727/concordance-between-research-sequencing-and-clinical-pharmacogenetic-genotyping-in-the-emerge-pgx-study
#11
Laura J Rasmussen-Torvik, Berta Almoguera, Kimberly F Doheny, Robert R Freimuth, Adam S Gordon, Hakon Hakonarson, Jared B Hawkins, Ammar Husami, Lynn Ivacic, Iftikhar J Kullo, Michael D Linderman, Teri A Manolio, Aniwaa O Obeng, Renata Pellegrino, Cynthia A Prows, Marylyn D Ritchie, Maureen Smith, Sarah C Stallings, Wendy A Wolf, Kejian Zhang, Stuart A Scott
There has been extensive debate about both the necessity of orthogonal confirmation of next-generation sequencing (NGS) results in Clinical Laboratory Improvement Amendments-approved laboratories and return of research NGS results to participants enrolled in research studies. In eMERGE-PGx, subjects underwent research NGS using PGRNseq and orthogonal targeted genotyping in clinical laboratories, which prompted a comparison of genotyping results between platforms. Concordance (percentage agreement) was reported for 4077 samples tested across nine combinations of research and clinical laboratories...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28502040/ugt1a1-polymorphisms-with-irinotecan-induced-toxicities-and-treatment-outcome-in-asians-with-lung-cancer-a-meta-analysis
#12
Xuewei Chen, Liping Liu, Zhihua Guo, Wenhua Liang, Jiaxi He, Liyan Huang, Qiuhua Deng, Hailing Tang, Hui Pan, Minzhang Guo, Yang Liu, Qihua He, Jianxing He
Previous studies of irinotecan pharmacogenetics have shown that the UGT1A1*28 polymorphism has an effect on irinotecan (IRI)-induced toxicities in Caucasians. Yet compared with the UGT1A1*6 mutation, the UGT1A1*28 occurs at a much lower frequency in the Asians. Whether UGT1A1*6 and UGT1A1*28 are associated with IRI-induced neutropenia, diarrhea and IRI-based chemotherapy tumor response (TR) in Asians with lung cancer remains controversial. In this meta-analysis, we found a higher risk of neutropenia and diarrhea with IRI-based chemotherapy in Asians with lung cancer carrying the UGT1A1*6 polymorphism...
June 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28495429/superoxide-hydrogen-peroxide-genetic-imbalance-modulates-differentially-the-oxidative-metabolism-on-human-peripheral-blood-mononuclear-cells-exposed-to-seleno-l-methionine
#13
Karen Lilian Schott, Charles Elias Assmann, Fernanda Barbisan, Verônica Farina Azzolin, Beatriz Bonadiman, Marta Maria Medeiros Frescura Duarte, Alencar Kolinski Machado, Ivana Beatrice Mânica da Cruz
Superoxide-hydrogen peroxide (S-HP) imbalance genetically caused by a gene polymorphism in the human manganese superoxide dismutase enzyme (Val16Ala-MnSOD) is associated with several dysfunctions and diseases. Into mitochondria, MnSOD catalyses superoxide radical producing hydrogen peroxide and oxygen. Ala-MnSOD genotype presents a high MnSOD efficiency and generates the highest H2O2 concentrations that has been associated with the risk of several cancer types. Cellular selenoenzymes glutathione peroxidase and thioredoxin reductase (TrxR) as well as catalase (CAT) are essential to H2O2 removal produced in excess in cells...
May 8, 2017: Chemico-biological Interactions
https://www.readbyqxmd.com/read/28494877/prevalence-of-malignant-hyperthermia-diagnosis-in-hospital-discharge-records-in-california-florida-new-york-and-wisconsin
#14
Zhen Lu, Henry Rosenberg, Guohua Li
STUDY OBJECTIVE: Malignant hyperthermia (MH) is a rare yet potentially fatal pharmacogenetic disorder triggered by exposure to inhalational anesthetics and the depolarizing neuromuscular blocking agent succinylcholine. Epidemiologic data on the geographic variation in MH prevalence is scant. The objective of this study is to examine the prevalence of recorded MH diagnosis in patients discharged from hospitals in four states in the United States. DESIGN: Observational study...
June 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28494788/comprehensive-analysis-of-treatment-response-phenotypes-in-rheumatoid-arthritis-for-pharmacogenetic-studies
#15
Kristopher A Standish, C Chris Huang, Mark E Curran, Nicholas J Schork
BACKGROUND: An individual patient's response to a particular drug is influenced by multiple factors, which may include genetic predisposition. Pharmacogenetic studies attempt to discover and estimate the contributions of genetic variants to the variability in response to a drug treatment. The task of identifying the genetic contribution is often complicated by response phenotypes that are based on imprecise or subjective clinical observations. Because the success of a pharmacogenetic study depends on the analysis of a heritable phenotype, it is important to identify phenotypes with a significant heritable component to ensure reliable and reproducible results in subsequent genetic association studies...
May 12, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28493308/north-central-cancer-treatment-group-n0543-alliance-a-phase-2-trial-of-pharmacogenetic-based-dosing-of-irinotecan-oxaliplatin-and-capecitabine-as-first-line-therapy-for-patients-with-advanced-small-bowel-adenocarcinoma
#16
Robert R McWilliams, Nathan R Foster, Michelle R Mahoney, Thomas C Smyrk, Joseph A Murray, Matthew M Ames, L Elise Horvath, Daniel J Schneider, Timothy J Hobday, Aminah Jatoi, Jeffrey P Meyers, Matthew P Goetz
BACKGROUND: Oxaliplatin in combination with either 5-fluorouracil or capecitabine is commonly used as first-line therapy for patients with small bowel adenocarcinoma. The addition of irinotecan improves survival in other gastrointestinal tumors but at the cost of hematologic toxicity. The authors performed a phase 2 cooperative group study (North Central Cancer Treatment Group N0543, Alliance) using genotype-dosed capecitabine, irinotecan, and oxaliplatin (gCAPIRINOX), with dosing assigned based on UDP glucuronosyltransferase family 1 member A1 (UGT1A1) genotype to test: 1) whether the addition of irinotecan would improve outcomes; and 2) whether UGT1A1 genotype-based dosing could optimize tolerability...
May 10, 2017: Cancer
https://www.readbyqxmd.com/read/28490206/pharmacokinetics-pharmacodynamics-and-pharmacogenetics-associated-with-nonsteroidal-anti-inflammatory-drugs-and-opioids-in-pediatric-cancer-patients
#17
Jonathan Constance, Sarah Campbell, Amit A Somani, Venkata Yellepeddi, Katie Owens, Catherine Sherwin
Advancing appropriate and adequate analgesic pharmacotherapy in pediatric patients with cancer is an area of clinical need. Few studies have been performed to evaluate the selection of an analgesic and appropriate dosing corresponding to analgesic effect among pediatric cancer patients. This review describes information related to pharmacokinetic, pharmacodynamic, and pharmacogenomic (when applicable) considerations for analgesics that are commonly used to manage pain experienced by pediatric patients with cancer...
May 11, 2017: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/28484392/-late-withdrawal-syndrome-after-carbamazepine-in-utero-exposure-in-a-cyp2c9-slow-metabolizer-newborn
#18
Evangelia Passia, Nathalie Rock, Riccardo E Pfister, Kuntheavy R Ing Lorenzini, Jules Desmeules, Caroline F Samer
We report a case of carbamazepine withdrawal syndrome following in utero exposure to carbamazepine related to a pharmacogenetic predisposition factor. The infant was born at 37 1/7 weeks' gestation by cesarean section to a mother treated for epilepsy with carbamazepine. One hour and thirty minutes after birth, the infant presented a respiratory distress with severe oxygen desaturation requiring intubation 5 h after birth. On the third day of life the infant developed clinical signs of a withdrawal syndrome which resolved progressively after 16 days and symptomatic treatment...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28480783/pharmacogenetics-of-drug-drug-interaction-and-drug-drug-gene-interaction-a-systematic-review-on-cyp2c9-cyp2c19-and-cyp2d6
#19
Muh Akbar Bahar, Didik Setiawan, Eelko Hak, Bob Wilffert
Currently, most guidelines on drug-drug interaction (DDI) neither consider the potential effect of genetic polymorphism in the strength of the interaction nor do they account for the complex interaction caused by the combination of DDI and drug-gene interaction (DGI) where there are multiple biotransformation pathways, which is referred to as drug-drug-gene interaction (DDGI). In this systematic review, we report the impact of pharmacogenetics on DDI and DDGI in which three major drug-metabolizing enzymes - CYP2C9, CYP2C19 and CYP2D6 - are central...
May 8, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28475098/genetic-polymorphisms-of-cytochrome-p450-enzymes-cyp2c9-cyp2c19-cyp2d6-cyp3a4-and-cyp3a5-in-the-croatian-population
#20
Lana Ganoci, Tamara Božina, Nikica Mirošević Skvrce, Mila Lovrić, Petar Mas, Nada Božina
BACKGROUND: Data on the frequency of pharmacogenetic polymorphisms in the Croatian population are limited. We determined and analyzed frequencies for the most important CYP2C9, CYP2C19, CYP2D6, CYP3A4, and CYP3A5 genetic variants in the Croatian population. METHODS: 2637 subjects were included. Genotyping was performed by real-time polymerase chain reaction (PCR) using TaqMan® DME or TaqMan® SNP Genotyping Assays, and by PCR, and PCR-RFLP analysis. RESULTS: For CYP2C9, allele frequencies of *2 and *3 variant were 14...
February 11, 2017: Drug Metabolism and Personalized Therapy
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