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Pharmacogenetics

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https://www.readbyqxmd.com/read/29218011/pharmacogenetic-variation-in-over-100-genes-in-patients-receiving-acenocumarol
#1
Vanessa Gonzalez-Covarrubias, Javier Urena-Carrion, Beatriz Villegas-Torres, J Eduardo Cossío-Aranda, Sergio Trevethan-Cravioto, Raul Izaguirre-Avila, O Javier Fiscal-López, Xavier Soberon
Coumarins are widely prescribed worldwide, and in Mexico acenocumarol is the preferred form. It is well known that despite its efficacy, coumarins show a high variability for dose requirements. We investigated the pharmacogenetic variation of 110 genes in patients receiving acenocumarol using a targeted NGS approach. We report relevant population differentiation for variants on CYP2C8, CYP2C19, CYP4F11, CYP4F2, PROS, and GGCX, VKORC1, CYP2C18, NQO1. A higher proportion of novel-to-known variants for 10 genes was identified on 41 core pharmacogenomics genes related to the PK (29), PD (3), of coumarins, and coagulation proteins (9) including, CYP1A1, CYP3A4, CYP3A5, and F8, and a low proportion of novel-to-known variants on CYP2E1, VKORC1, and SULT1A1/2...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29212537/association-of-arms2-genotype-with-response-to-anti-vascular-endothelial-growth-factor-treatment-in-polypoidal-choroidal-vasculopathy
#2
Un Chul Park, Joo Young Shin, Hum Chung, Hyeong Gon Yu
BACKGROUND: To investigate whether genetic risk variants for age-related macular degeneration (AMD) are associated with response to intravitreal anti-vascular endothelial growth factor (VEGF) in polypoidal choroidal vasculopathy (PCV) patients. METHODS: This prospective cohort study included 95 treatment-naïve patients that underwent anti-VEGF treatment for PCV for 12 months. Patients were genotyped for 10 single nucleotide polymorphisms in eight AMD-relevant genes...
December 7, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29210335/predictive-role-of-nudt15-variants-on-thiopurine-induced-myelotoxicity-in-asian-inflammatory-bowel-disease-patients
#3
Natalia Sutiman, Sylvia Chen, Khoon Lin Ling, Sai Wei Chuah, Wai Fook Leong, Vinayak Nadiger, Madeline Tjai, Chris San Choon Kong, Brian John Schwender, Webber Chan, Hang Hock Shim, Wee Chian Lim, Chiea Chuen Khor, Yin Bun Cheung, Balram Chowbay
BACKGROUND: Genetic variants of TPMT and NUDT15 have been reported to predict the inter-patient variability in response and toxicity profiles of patients receiving thiopurine therapy. However, the clinical utility of TPMT genotyping in guiding thiopurine doses has been questionable, in part due to underlying differences in the prevalence of TPMT variants in both Caucasian and Asian populations. Several NUDT15 variants have been associated with thiopurine-induced leukopenia, particularly in Asian cohorts...
December 6, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/29205871/pharmacogenetic-analysis-of-the-model-based-pharmacokinetics-of-five-anti-hiv-drugs-how-does-this-influence-the-effect-of-aging
#4
Jingxian Chen, Farida S Akhtari, Michael J Wagner, Oscar Suzuki, Tim Wiltshire, Alison A Motsinger-Reif, Julie B Dumond
Analysis of aging and pharmacogenetics (PGx) on antiretroviral pharmacokinetics (PKs) could inform precision dosing for older human HIV-infected patients. Seventy-four participants receiving either atazanavir/ritonavir (ATV/RTV) or efavirenz (EFV) with tenofovir/emtricitabine (TFV/FTC) provided PK and PGx information. Aging-PGx-PK association and interaction analyses were conducted using one-way analysis of variance (ANOVA), multiple linear regression, and Random Forest ensemble methods. Our analyses associated unbound ATV disposition with multidrug resistance protein (MRP)4, RTV with P-glycoprotein (P-gp), and EFV with cytochrome P450 (CYP)2B6 and MRP4 genetic variants...
December 3, 2017: Clinical and Translational Science
https://www.readbyqxmd.com/read/29203815/role-of-ventral-medullary-catecholaminergic-neurons-for-respiratory-modulation-of-sympathetic-outflow-in-rats
#5
Davi J A Moraes, Leni G H Bonagamba, Melina P da Silva, Julian F R Paton, Benedito H Machado
Sympathetic activity displays rhythmic oscillations generated by brainstem inspiratory and expiratory neurons. Amplification of these rhythmic respiratory-related oscillations is observed in rats under enhanced central respiratory drive or during development of neurogenic hypertension. Herein, we evaluated the involvement of ventral medullary sympatho-excitatory catecholaminergic C1 neurons, using inhibitory Drosophila allatostatin receptors, for the enhanced expiratory-related oscillations in sympathetic activity in rats submitted to chronic intermittent hypoxia (CIH) and following activation of both peripheral (hypoxia) and central chemoreceptors (hypercapnia)...
December 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29202676/precision-medicine-for-hiv-where-are-we
#6
Jessica Cusato, Sarah Allegra, Amedeo De Nicolò, Andrea Calcagno, Antonio D'Avolio
To date, antiretroviral therapy is highly effective in HIV-affected patients, but the individualization of such a life-long therapy may be advised. This review briefly summarizes the main factors involved in the potential personalization of antiretroviral treatment. Relevant articles in English were identified by PubMed and recent congresses' abstracts. Foremost influences concerning pharmacodynamics, therapeutic drug monitoring, pharmacogenetics, comorbidities, immune recovery and viral characteristics affecting the healthcare of HIV-positive patients are listed here...
December 5, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/29199764/pharmacogenetics-in-psychiatry-clinical-case-of-resistant-depression-and-a-previous-history-of-multiple-adverse-effects
#7
Eva Aguilar, José A Monreal, Diego J Palao
No abstract text is available yet for this article.
November 2017: Actas Españolas de Psiquiatría
https://www.readbyqxmd.com/read/29199543/genetic-variations-of-the-xenoreceptors-nr1i2-and-nr1i3-and-their-effect-on-drug-disposition-and-response-variability
#8
Litaty Céphanoée Mbatchi, Jean-Paul Brouillet, Alexandre Evrard
NR1I2 (PXR) and NR1I3 (CAR) are nuclear receptors that are classified as xenoreceptors. Upon activation by various xenobiotics, including marketed drugs, they regulate the transcription level of major drug-metabolizing enzymes and transporters and facilitate the elimination of xenobiotics from the body. The modulation of the activity of these two xenoreceptors by various ligands is a major source of pharmacokinetic variability of environmental origin. NR1I2 and NR1I3 genetic polymorphisms can affect the pharmacokinetics and therapeutic response to many drugs, such as irinotecan, tacrolimus and atazanavir...
December 4, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/29199461/biomarkers-delivering-on-the-expectation-of-molecularly-driven-quantitative-health
#9
Jennifer L Wilson, Russ B Altman
Biomarkers are the pillars of precision medicine and are delivering on expectations of molecular, quantitative health. These features have made clinical decisions more precise and personalized, but require a high bar for validation. Biomarkers have improved health outcomes in a few areas such as cancer, pharmacogenetics, and safety. Burgeoning big data research infrastructure, the internet of things, and increased patient participation will accelerate discovery in the many areas that have not yet realized the full potential of biomarkers for precision health...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29198326/the-molecular-genetics-of-chemotherapy-induced-peripheral-neuropathy-a-systematic-review-and-meta-analysis
#10
REVIEW
J Cliff, A L Jorgensen, R Lord, F Azam, L Cossar, D F Carr, M Pirmohamed
Chemotherapy-induced peripheral neuropathy (CIPN) can adversely affect completion of systemic anti-cancer treatment and cause long-term morbidity. Increasingly pharmacogenetic studies have been performed to explore susceptibility to this important adverse effect. A systematic review was conducted to identify pharmacogenetic studies, assess their quality and findings and undertake meta-analysis where possible. 93 studies were included. Notable methodological issues included lack of standardisation and detail in phenotype definition and acknowledgement of potential confounding factors...
December 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/29197628/towards-the-application-of-precision-medicine-in-age-related-macular-degeneration
#11
REVIEW
Raffaella Cascella, Claudia Strafella, Valerio Caputo, Valeria Errichiello, Stefania Zampatti, Filippo Milano, Saverio Potenza, Silvestro Mauriello, Giuseppe Novelli, Federico Ricci, Andrea Cusumano, Emiliano Giardina
The review essentially describes genetic and non-genetic variables contributing to the onset and progression of exudative Age-related Macular Degeneration (AMD) in Italian population. In particular, AMD susceptibility within Italian population is contributed to by genetic variants, accounting for 23% of disease and non-genetic variants, accounting for 10% of AMD. Our data highlighted prominent differences concerning genetic and non-genetic contributors to AMD in our cohort with respect to worldwide populations...
November 29, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29196725/pharmacogenetic-study-of-seven-polymorphisms-in-three-nicotinic-acetylcholine-receptor-subunits-in-smoking-cessation-therapies
#12
Giulia Pintarelli, Antonella Galvan, Paolo Pozzi, Sara Noci, Giovanna Pasetti, Francesca Sala, Ugo Pastorino, Roberto Boffi, Francesca Colombo
Smoking-cessation therapy reduces the risk of smoking-related diseases, but is successful only in a fraction of smokers. There is growing evidence that genetic variations in nicotinic acetylcholine receptor (nAChR) subunits influence the risk of nicotine dependence and the ability to quit smoking. To investigate the role of polymorphisms in nAChR genes on smoking quantity and the outcome of smoking-cessation therapies, we carried out an association study on 337 smokers who underwent pharmacotherapy with varenicline, bupropion, nicotine replacement therapy (NRT) alone, or NRT plus bupropion...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29194620/pharmacogenetics-a-strategy-for-personalized-medicine-for-autoimmune-diseases
#13
REVIEW
S Tavakolpour, M Darvishi, M Ghasemiadl
For many years, a considerable number of patients with autoimmune diseases (ADs) have suffered from a lack of drug response and drug-related toxicity. Despite the emergence of new therapeutic options such as biological agents, patients continue to struggle with these problems. Unfortunately, new challenges, including the paradoxical effects of biological drugs, have complicated the situation. In recent decades, efforts have been made to predict drug response as well as drug-related side-effects. Thanks to the many advances in genetics, evaluation of markers to predict drug response/toxicity before the initiation of treatment may be an avenue toward personalizing treatments...
November 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29193749/clinical-implementation-of-pharmacogenetic-testing-in-a-hospital-of-the-spanish-national-health-system-strategy-and-experience-over-3-years
#14
Alberto M Borobia, Irene Dapia, Hoi Y Tong, Pedro Arias, Mario Muñoz, Jair Tenorio, Rafael Hernández, Irene García García, Gema Gordo, Elena Ramírez, Jesús Frías, Pablo Lapunzina, Antonio J Carcas
In 2014, we established a pharmacogenetics unit with the intention of facilitating the integration of pharmacogenetic testing into clinical practice. This unit was centered around two main ideas: i) individualization of clinical recommendations, and ii) preemptive genotyping in risk populations. Our unit is based on the design and validation of a single nucleotide polymorphism (SNP) microarray, which has allowed testing of 180 SNPs associated with drug response (PharmArray), and clinical consultation regarding the results...
November 28, 2017: Clinical and Translational Science
https://www.readbyqxmd.com/read/29193038/emerging-clinical-importance-of-hepatic-organic-cation-transporter-1-oct1-in-drug-pharmacokinetics-dynamics-pharmacogenetic-variability-and-drug-interactions
#15
Maciej J Zamek-Gliszczynski, Kathleen M Giacomini, Lei Zhang
Hepatic organic cation transporter 1 (OCT1) can be a determinant of drug clearance and distribution, which can impact drug exposure and response. OCT1 was shown recently to be the rate-determining step in the clearance of several drugs in humans, and thereby a mechanism of pharmacogenetic variability and drug-drug interactions (DDIs). OCT1 mediates metformin distribution to the liver (key biophase). As OCT1 modulation impacts metformin response, but not pharmacokinetics (PK), metformin DDI studies require pharmacodynamic endpoint(s) to inform rational metformin dose adjustment...
November 28, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/29192598/personalized-medicine-pharmacogenomic-and-companion-biomarker
#16
Hana Manceau, Kawthar Amrani, Katell Peoc'h
The aim of this review is to provide a brief overview of personalized medicine, pharmacogenetics and companion tests. Personalized or stratified medicine is a new paradigm in the management of patients, aimed at better taking into account inter-individual variability. The response to drugs' intake varies considerably, depending on the transport and metabolism of the drugs, the target and the pathophysiological characteristics of the organism. Each stage is very variable and can be modified by endogenous factors (pathophysiology, age, sex, genetics…) or exogenous (environmental: taking other medicines, food, tobacco, alcohol…)...
December 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/29192552/polymorphisms-associated-with-adalimumab-and-infliximab-response-in-moderate-to-severe-plaque-psoriasis
#17
María C Ovejero-Benito, Rocío Prieto-Pérez, Mar Llamas-Velasco, Ester Muñoz-Aceituno, Alejandra Reolid, Miriam Saiz-Rodríguez, Carmen Belmonte, Manuel Román, Dolores Ochoa, María Talegón, Teresa Cabaleiro, Esteban Daudén, Francisco Abad-Santos
AIM: This study evaluated the influence of pharmacogenetics in psoriatic patients treated with adalimumab and/or infliximab. MATERIALS & METHODS: Prospective observational study evaluating the association of 124 polymorphisms with the response to adalimumab or infliximab (PASI75) in patients with moderate-to-severe plaque psoriasis at 3 months (n = 95) and 6 months of treatment (n = 90). Significant SNPs for univariate analysis were subjected to multivariate analysis...
December 1, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/29192347/pharmacogenetics-of-thiopurines-for-inflammatory-bowel-disease-in-east-asia-prospects-for-clinical-application-of-nudt15-genotyping
#18
REVIEW
Yoichi Kakuta, Yoshitaka Kinouchi, Tooru Shimosegawa
The thiopurine drugs 6-mercaptopurine (6-MP) and azathiopurine (AZA) are widely used to treat inflammatory bowel disease. However, the incidence of adverse reactions is high, particularly in Asia, and the mechanisms of toxicity in Asian populations remain unclear. Thiopurine S-methyltransferase (TPMT) is a well-known enzyme that inactivates AZA or 6-MP through methylation and is one of the few pharmacogenetic predictors used in clinical settings in Western countries. Individuals carrying TPMT-deficient genetic variants require reduced drug doses, but this treatment modification is are not applicable to East Asian populations...
November 30, 2017: Journal of Gastroenterology
https://www.readbyqxmd.com/read/29191064/the-future-of-pharmacogenetics-in-parkinson-s-disease-treatment
#19
Mara H Hutz, Carlos Rm Rieder
No abstract text is available yet for this article.
December 1, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/29189588/a-randomized-phase-ii-study-of-s-1-versus-capecitabine-as-first-line-chemotherapy-in-elderly-metastatic-gastric-cancer-patients-with-or-without-poor-performance-status-clinical-and-pharmacogenetic-results
#20
Mi-Jung Kim, Sun-Young Kong, Byung-Ho Nam, Sohee Kim, Young-Iee Park, Sook Ryun Park
OBJECTIVE: This study investigated the efficacy and safety of S-1 versus capecitabine in elderly patients with metastatic gastric cancer (MGC), and examined the association between cytochrome P450 2A6 (CYP2A6) polymorphisms and treatment outcomes. MATERIALS AND METHODS: MGC patients 70-85 years old with Eastern Cooperative Oncology Group performance status 0-2 or 65-70 years old with Eastern Cooperative Oncology Group performance status 2 were randomized to receive S-1 40 mg/m, twice daily, or capecitabine 1250 mg/m, twice daily, on days 1-14 every 3 weeks...
November 17, 2017: Pharmacogenetics and Genomics
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