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Pharmacogenetics and Genomics

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https://www.readbyqxmd.com/read/30379713/utility-of-human-leukocyte-antigen-b-58-01-genotyping-and-patient-outcomes
#1
Ching-Hua Ke, Wen-Hung Chung, You-Lin Tain, Yaw-Bin Huang, Yen-Hsia Wen, Hung-Yi Chuang, Chien-Ning Hsu
AIM: Human leukocyte antigen (HLA-B*58:01) allele screening before allopurinol administration is recommended to prevent gene-mediated severe cutaneous adverse reactions (SCARs). The objective of the analysis was to examine the clinical utility and effects of HLA-B*58:01 genotyping on patient's outcomes in a practice setting. PATIENTS AND METHODS: The electronic medical records covering diagnosis, laboratory results, and prescription dispensing for patients who were newly treated with allopurinol or tested for HLA-B*58:01 were obtained from a large medical organization in Taiwan between 2010 and 2014...
October 30, 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/30383576/a-response-letter-to-allopurinol-induced-toxic-epidermal-necrolysis-and-association-with-hla-b-5801-in-white-patients
#2
Dewen Yan, Youming Zhang
No abstract text is available yet for this article.
December 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/30383575/alopurinol-induced-ten-and-association-with-hla-b-58-01-in-white-patients
#3
Fabrizzio P Saavedra, Alberto S García, Enrique S González, Luis C L Romero
No abstract text is available yet for this article.
December 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/30363031/the-association-between-the-slco1b1-apolipoprotein-e-and-cyp2c9-genes-and-lipid-response-to-fluvastatin-a-meta-analysis
#4
Qian Xiang, Xiaodan Zhang, Lingyue Ma, Kun Hu, Zhuo Zhang, Guangyan Mu, Qiufen Xie, Shuqing Chen, Yimin Cui
OBJECTIVE: The aim of this study was to determine the impact of the SLCO1B1, apolipoprotein E (ApoE), and CYP2C9 genotypes on the lipid-lowering efficacy of fluvastatin. METHODS: We performed electronic searches on the PubMed, Embase, and Cochrane Library databases to identify studies published through October 2017. Studies that reported the effect estimates with 95% confidence intervals (CIs) of total cholesterol (TC), triglyceride, low-density lipoprotein (LDL), and high-density lipoprotein were included so that the different genotype categories could be compared...
December 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/30334910/leveraging-electronic-health-records-to-assess-the-role-of-adrb2-single-nucleotide-polymorphisms-in-predicting-exacerbation-frequency-in-asthma-patients
#5
Nikita Sood, John J Connolly, Frank D Mentch, Lyam Vazquez, Patrick M A Sleiman, Erik B Hysinger, Hakon Hakonarson
Asthma is the leading chronic disease in children. Several studies have identified genetic biomarkers associated with susceptibility and severity in both adult and pediatric cases. In this study, we evaluated outcomes in 400 African American and European American pediatric cases all of whom were regular users of inhaled corticosteroids. Patients were stratified by genotype using two single nucleotide polymorphisms in the β-2-adrenergic receptor (ADRB2) gene - rs1042713 and rs1042714, previously associated with asthma outcome...
November 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/30334909/pharmacogenetic-variants-and-response-to-neoadjuvant-single-agent-doxorubicin-or-docetaxel-a-study-in-locally-advanced-breast-cancer-patients-participating-in-the-nct00123929-phase-2-randomized-trial
#6
Sara Ruiz-Pinto, Miguel Martin, Guillermo Pita, Daniela Caronia, Julio C de la Torre-Montero, Leticia T Moreno, Fernando Moreno, José Á García-Sáenz, Javier Benítez, Anna González-Neira
OBJECTIVES: Taxanes and anthracyclines are widely used in the treatment of breast cancer, although the benefit is limited to a proportion of patients and predictive biomarkers for clinical outcome remain elusive. PATIENTS AND METHODS: We carried out a pharmacogenetic study in 181 patients with locally advanced breast cancer enrolled in a phase 2 randomized clinical trial (NCT00123929), where patients were randomly assigned to receive neoadjuvant single-agent docetaxel 100 mg/m (n=84) or doxorubicin 75 mg/m (n=97)...
November 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/30289819/targeted-sequencing-identifies-a-missense-variant-in-the-best3-gene-associated-with-antihypertensive-response-to-hydrochlorothiazide
#7
Sonal Singh, Zhiying Wang, Mohamed H Shahin, Taimour Y Langaee, Yan Gong, Stephen T Turner, Arlene B Chapman, John G Gums, Caitrin W McDonough, Kent R Bailey, Amber L Beitelshees, Rhonda M Cooper-DeHoff, Steve Scherer, Eric Boerwinkle, Julie A Johnson
Chromosome 12q15 was identified in Genetic Epidemiology of Response Assessment (GERA) and replicated in Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) for its association with blood pressure (BP) response to hydrochlorothiazide (HCTZ). However, the functional variant is unknown and we aimed to identify the likely functional variants through targeted sequencing. The chromosome 12q15 region was sequenced in 397 best and worst responders to HCTZ in PEAR (N=199) and GERA (N=198) hypertensive study participants...
November 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/30222710/the-role-of-genetic-polymorphisms-in-the-thymidylate-synthase-tyms-gene-in-methotrexate-induced-oral-mucositis-in-children-with-acute-lymphoblastic-leukemia
#8
Natanja Oosterom, Marijn Berrevoets, Marissa A H den Hoed, Oliver Zolk, Susanne Hoerning, Saskia M F Pluijm, Rob Pieters, Robert de Jonge, Wim J E Tissing, Marry M van den Heuvel-Eibrink, Sandra G Heil
OBJECTIVE: Methotrexate (MTX) is an important drug in the treatment of pediatric acute lymphoblastic leukemia (ALL). MTX is cytotoxic as it impairs DNA and RNA synthesis by inhibiting the enzymes dihydrofolate reductase (DHFR) and thymidylate synthase (TYMS). The association between genetic variants within the TYMS gene and MTX-induced toxicity has been studied, but results are inconsistent. We determined the role of three previously described variants within the TYMS gene and MTX-induced oral mucositis in a prospective cohort of Dutch children with ALL and performed a meta-analysis of the previous results...
October 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/30222709/functional-expression-of-human-arylamine-n-acetyltransferase-nat1-10-and-nat1-11-alleles-a-mini-review
#9
David W Hein, Giannoulis Fakis, Sotiria Boukouvala
The arylamine N-acetyltransferase (NAT) nomenclature committee assigns functional phenotypes for human arylamine N-acetyltransferase 1 (NAT1) alleles in those instances in which the committee determined a consensus has been achieved in the scientific literature. In the most recent nomenclature update, the committee announced that functional phenotypes for NAT1*10 and NAT1*11 alleles were not provided owing to a lack of consensus. Phenotypic inconsistencies observed among various studies for NAT1*10 and NAT1*11 may be owing to variable allelic expression among different tissues, the limitations of the genotyping assays (which mostly relied on techniques not involving direct DNA sequencing), the differences in recombinant protein expression systems used (bacteria, yeast, and mammalian cell lines) and/or the known inherent instability of human NAT1 protein, which requires very careful handling of native and recombinant cell lysates...
October 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/30222708/pharmgkb-summary-oxycodone-pathway-pharmacokinetics
#10
Rachel Huddart, Melissa Clarke, Russ B Altman, Teri E Klein
No abstract text is available yet for this article.
October 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/30188374/pharmacogenetic-and-clinical-predictors-of-response-to-clopidogrel-plus-aspirin-after-acute-coronary-syndrome-in-egyptians
#11
Shaimaa Fathy, Mohamed H Shahin, Taimour Langaee, Basma M Khalil, Ayman Saleh, Nagwa A Sabry, Mona F Schaalan, Lamiaa L El Wakeel, Larisa H Cavallari
OBJECTIVES: Dual antiplatelet therapy (DAPT) with aspirin and clopidogrel reduces the risk for recurrent cardiovascular events after acute coronary syndrome (ACS). However, there is significant variation in response to DAPT that may be influenced by both genetic and nongenetic factors. This study aimed to assess the effect of genetic polymorphisms in PON-1, PEAR-1, P2Y12, CES1, and CYP2C19, along with clinical, demographic, and social factors, on variation in response to DAPT in Egyptians...
September 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/30179981/role-of-cyp1a1-abcg2-cyp24a1-and-vdr-gene-polymorphisms-on-the-evaluation-of-cardiac-iron-overload-in-thalassaemia-patients
#12
Sarah Allegra, Jessica Cusato, Silvia De Francia, Filomena Longo, Elisa Pirro, Davide Massano, Valeria Avataneo, Amedeo De Nicolò, Antonio Piga, Antonio D'Avolio
OBJECTIVES: Iron-burden-induced arrhythmia and heart failure are among the leading causes of morbidity and mortality in β-thalassaemia major patients. T2* cardiac magnetic resonance remains the only reliable noninvasive method for the heart iron excess assessment. We explored the role of single nucleotide polymorphisms involved in vitamin D metabolism, transport and activity and in deferasirox (DFX) metabolism on cardiac iron burden. PATIENTS AND METHODS: One hundred and five β-thalassaemia patients, treated with DFX, were enrolled in the present study...
September 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/30134346/pharmgkb-summary-clozapine-pathway-pharmacokinetics
#13
Caroline F Thorn, Daniel J Müller, Russ B Altman, Teri E Klein
No abstract text is available yet for this article.
September 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/30169473/pharmgkb-summary-voriconazole-pathway-pharmacokinetics-erratum
#14
(no author information available yet)
No abstract text is available yet for this article.
August 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/30169472/genetic-determinants-of-impaired-awareness-of-hypoglycemia-in-type-1-diabetes
#15
Bas J Schouwenberg, Bastiaan E de Galan
No abstract text is available yet for this article.
August 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/30119132/genetic-polymorphisms-in-candidate-genes-are-not-associated-with-increased-vincristine-related-peripheral-neuropathy-in-arab-children-treated-for-acute-childhood-leukemia-a-single-institution-study
#16
Nathalie K Zgheib, Khaled M Ghanem, Hani Tamim, Carole Aridi, Randa Shahine, Nidale Tarek, Raya Saab, Miguel R Abboud, Hassan El-Solh, Samar A Muwakkit
OBJECTIVE: The aim of this study was to evaluate the potential association between candidate genetic polymorphisms and vincristine-related peripheral neuropathy in Arab children with acute lymphoblastic leukemia (ALL). PATIENTS AND METHODS: This is a retrospective evaluation of 133 Arab children treated for ALL at the Children's Cancer Center of Lebanon. Incidence and severity of, as well as the timing (in weeks) at which grade 2 or higher peripheral neuropathy occurred were recorded...
August 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29901526/the-hemodynamic-response-to-constant-dobutamine-infusion-the-effect-of-adrb1-389-polymorphism-and-sex-erratum
#17
(no author information available yet)
No abstract text is available yet for this article.
July 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29901525/in-memoriam-wendell-w-weber-phd-md-1925-2018
#18
David W Hein, Paul F Hollenberg, Charlene A McQueen, Irene B Glowinski
No abstract text is available yet for this article.
July 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29847509/brain-neurotransmitter-transporter-receptor-genomics-and-efavirenz-central-nervous-system-adverse-events
#19
David W Haas, Yuki Bradford, Anurag Verma, Shefali S Verma, Joseph J Eron, Roy M Gulick, Sharon A Riddler, Paul E Sax, Eric S Daar, Gene D Morse, Edward P Acosta, Marylyn D Ritchie
OBJECTIVE: We characterized associations between central nervous system (CNS) adverse events and brain neurotransmitter transporter/receptor genomics among participants randomized to efavirenz-containing regimens in AIDS Clinical Trials Group studies in the USA. PARTICIPANTS AND METHODS: Four clinical trials randomly assigned treatment-naive participants to efavirenz-containing regimens. Genome-wide genotype and PrediXcan were used to infer gene expression levels in tissues including 10 brain regions...
July 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29781872/nat2-ultra-slow-acetylator-and-risk-of-anti-tuberculosis-drug-induced-liver-injury-a-genotype-based-meta-analysis
#20
Supharat Suvichapanich, Koya Fukunaga, Hilyatuz Zahroh, Taisei Mushiroda, Surakameth Mahasirimongkol, Licht Toyo-Oka, Usa Chaikledkaew, Jiraphun Jittikoon, Rika Yuliwulandari, Hideki Yanai, Sukanya Wattanapokayakit, Katsushi Tokunaga
BACKGROUND: NAT2 slow acetylator is a confirmed risk of anti-tuberculosis drug-induced liver injury (ATDILI). However, NAT2 ultra-slow acetylators, a new refinement among NAT2 slow acetylators, have been recently proposed. The patients with NAT2 genotypes of *6A/*6A, *6A/*7B and *7B/*7B are referred to in this group. OBJECTIVE: We aim to prove an association of the NAT2 ultra-slow acetylators with the risk of ATDILI. MATERIALS AND METHODS: Systematic review and meta-analysis were performed based on each NAT2 genotype and risk of ATDILI cases and also new classification of the ultra-slow acetylators up to 31 October 2016...
July 2018: Pharmacogenetics and Genomics
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