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Jason H Karnes
Heparin-induced thrombocytopenia (HIT) is a life-threatening, immune-mediated adverse reaction to heparin anticoagulants. The inability to predict HIT represents a considerable liability associated with heparin administration. Genetic studies of HIT are challenging due to the scarcity of true HIT cases, potential for misclassification, and many environmental risk factors. Genetic studies have not consistently identified risk alleles for HIT, the production of platelet factor 4/heparin antibodies or the thromboembolic complications of HIT...
November 6, 2018: Pharmacogenomics
Marcelo R Luizon, Daniela A Pereira, Jose E Tanus-Santos
Endothelial nitric oxide synthase (NOS3) is a key enzyme responsible for nitric oxide (NO) generation in the vascular endothelium. Endothelial dysfunction is characterized by reduced NO production, and is a hallmark of cardiovascular diseases. Drugs with cardiovascular action may activate NOS3 and result in NO release and vasodilation. Moreover, genetic variations affect NOS3 expression and activity, and may partially explain the variability in the responses to cardiovascular drugs. We reviewed NO signaling and genetic effects on NO formation, and the effects of NOS3 polymorphisms, haplotypes and gene-gene interactions within NO signaling pathways on the responses to cardiovascular drugs...
November 6, 2018: Pharmacogenomics
Erik Hefti, David M Jacobs, Khyatiben Rana, Javier G Blanco
AIM: HER2 testing is necessary in the context of therapy with trastuzumab, pertuzumab, lapatinib and neratinib. There is a paucity of reports describing the utilization rates of HER2 testing in large outpatient populations. METHODS: The Statewide Planning and Research Cooperative System (SPARCS) was used to examine HER2 testing across the state of New York (USA) during the 2012-2016 period. RESULTS: There was a linear increase in HER2 testing (r = 0...
November 6, 2018: Pharmacogenomics
Amalio Telenti
No abstract text is available yet for this article.
November 6, 2018: Pharmacogenomics
Nyarai Desiree Soko, Collen Masimirembwa, Collet Dandara
No abstract text is available yet for this article.
November 6, 2018: Pharmacogenomics
Ismael A Rodríguez-Rodríguez, Karla A Fernandez-Quiroga, Pilar Dc Morales-San Claudio, Isaías Balderas-Rentería, Omar González-Santiago
AIM: Recent studies show an association between the endocannabinoid system and pain. In this study, we analyzed the association between two CNR1 gene polymorphisms and pain perception in a northeast Mexican population. METHODS: Genotypic and allelic frequencies were obtained for both polymorphisms. Pain threshold, tolerance and perception were measured using the cold pressor task. RESULTS: No significant association between the polymorphisms and pain perception was found (p > 0...
October 29, 2018: Pharmacogenomics
Ioannis D Kyrochristos, Demosthenes E Ziogas, Persefoni Antoniou, Michail Mitsis, Efstathios G Lykoudis, Dimitrios H Roukos
No abstract text is available yet for this article.
October 23, 2018: Pharmacogenomics
Dunja Urbančič, Alenka Šmid, Gabriele Stocco, Giuliana Decorti, Irena Mlinarič-Raščan, Nataša Karas Kuželički
AIM: SNPs in the gene for TPMT exemplify one of the most successful translations of pharmacogenomics into clinical practice. This study explains the correlation between common SNPs and variable number of tandem repeats (VNTR) in promoter of the gene. MATERIALS & METHODS: We determined VNTR polymorphisms, as well as TPMT*2 and TPMT*3 SNPs and TPMT activity in Slovenian and Italian individuals and lymphoblastoid cell lines. RESULTS: We observed a previously unreported VNTR allele, AB7C, in a TPMT*3A heterozygous individual...
October 22, 2018: Pharmacogenomics
Lynn G Dressler, Gillian C Bell, Karl D Ruch, Jennifer D Retamal, Paige B Krug, Ronald A Paulus
The implementation of a de novo personalized medicine program in a rural community health system serving an underserved population is described. Focusing on the safe use of drugs impacted by genetic variations in the non-oncology setting, we first addressed drug-gene pairs designated by the US FDA in black-box warnings (codeine, clopidogrel, abacavir, carbamazepine). The program's first success was a policy change to remove codeine from the pediatric formulary, rather than a testing recommendation. Pilot studies were then conducted with primary care providers to get them familiar with pharmacogenetic testing, and a consultative outpatient clinic for patients was developed...
October 22, 2018: Pharmacogenomics
Aditi Shendre, Chrisly Dillon, Nita A Limdi
Despite the introduction of direct acting oral anticoagulants, warfarin remains the most commonly prescribed oral anticoagulant. However, warfarin therapy is plagued by the large inter- and intrapatient variability. The variability in dosing fueled research to identify clinical and genetic predictors and develop more accurate dosing algorithms. Observational studies have demonstrated the significant impact of single nucleotide polymorphisms in CYP2C9 and VKORC1 on warfarin dose in patients of European ancestry and African-Americans...
October 22, 2018: Pharmacogenomics
Li-Qing Li, Di-Na Chen, Chuan-Jiang Li, Qing-Ping Li, Yan Chen, Ping Fang, Ping Zheng, Hui-Jie Lu, De-Mei Ye, Hao-Yang Wan, Jie Li, Liang Li
AIM: To evaluate genetic variants affecting mycophenolic acid (MPA) metabolism in Chinese renal transplant recipients. METHODS:  Total 11 SNPs of UGT1A9, UGT1A8, UGT2B7, ABCC2, ABCG2 and SLCO1B3 were genotyped in 408 Chinese renal transplant recipients. Associations between SNPs and MPA concentration/dose ratio (C0 /D) were analyzed using different genetic models. Multivariate linear regression was used to analyze associations between log (C0 /D) and clinical factors...
October 22, 2018: Pharmacogenomics
Tamorah Lewis, J Steven Leeder
No abstract text is available yet for this article.
October 18, 2018: Pharmacogenomics
Pablo Zubiaur, Miriam Saiz-Rodríguez, Dora Koller, María Carmen Ovejero-Benito, Aneta Wojnicz, Francisco Abad-Santos
Several polymorphisms have been identified in ABCB1, the gene encoding for the P-glycoprotein. This transporter alters the pharmacokinetics or effectiveness of drugs by excreting them from cells where it is expressed (e.g., blood-brain barrier, intestine or tumors). No consensus has been reached regarding the functional consequences of these polymorphisms in the transporter's function. The aim of this review was to describe a methodology that allows the assessment of P-gp function when harboring polymorphisms...
October 18, 2018: Pharmacogenomics
Todd Hulgan, Chandravanu Dash, David W Haas, Elizabeth J Phillips
No abstract text is available yet for this article.
October 16, 2018: Pharmacogenomics
Paul J Isackson, Jianxin Wang, Mohammad Zia, Paul Spurgeon, Adrian Levesque, Jonathan Bard, Smitha James, Norma Nowak, Tae Keun Lee, Georgirene D Vladutiu
AIM: To examine the genetic differences between subjects with statin-associated muscle symptoms and statin-tolerant controls. MATERIALS & METHODS: Next-generation sequencing was used to characterize the exomes of 76 subjects with severe statin-associated muscle symptoms and 50 statin-tolerant controls. RESULTS: Twelve probably pathogenic variants were found within the RYR1 and CACNA1S genes in 16% of cases with severe statin-induced myopathy representing a fourfold increase over variants found in statin-tolerant controls...
October 16, 2018: Pharmacogenomics
Sarah Sim, Jonas Bergh, Mats Hellström, Thomas Hatschek, Hanjing Xie
AIM: This study aimed to investigate the effect of CYP3A4 and CYP3A5 genotypes on clinical outcomes of docetaxel treatment. PATIENTS & METHODS: In the PROMIX trial, 150 breast cancer patients received docetaxel preoperatively. CYP3A4 and CYP3A5 genotype combinations were transformed into total CYP 3A phenotypes. RESULTS: Seven patients were characterized as poor metabolizer (PM), 22 patients as extensive metabolizer and 121 patients as intermediate metabolizer...
September 10, 2018: Pharmacogenomics
Corine Ekhart, Maja Matic, Agnes Kant, Laure Elens, Eugène van Puijenbroek, Ron van Schaik
Letter in reply to: Eikelenboom-Schieveld SJM, Fogleman JC. Letter to the Editor. Pharmcogenomics 19(14), doi:10.2217/pgs-2018-0203 (2018) (Epub ahead of print) [ 1 ], regarding: Ekhart, Matic M, Kant A, van Puijenbroek E, van Schaik R. CYP450 genotype and aggressive behavior on selective serotonin reuptake inhibitors. Phamacogenomics 18(7), 613-620 (2017) [ 2 ].
August 31, 2018: Pharmacogenomics
Donald D Chang, Harris A Eyreeuro, Ryan Abbott, Michael Coudreaut, Bernhard T Baune, Jeffrey A Shaman, Helen Lavretsky, Eric J Lenze, David A Merrill, Ajeet B Singh, Benoit H Mulsant, Charles F Reynolds, Daniel J Müller, Chad Bousman
Late-life depression (LLD) is a major depressive disorder that affects someone after the age of 60 years. LLD is frequently associated with inadequate response and remission from antidepressants, in addition to polypharmacy. Pharmacogenetics offers a promising approach to improve clinical outcomes in LLD via new discoveries determining the genetic basis of response rates and side effects, as well as the development of tailored pharmacogenetic-based decision support tools. This invited review evaluates the LLD pharmacogenetic evidence base and the extent to which this was incorporated into existing commercial decision support tools and clinical pharmacogenetic guidelines...
November 2018: Pharmacogenomics
Louis-Philippe Lemieux Perreault, Nabil Zaïd, Michel Cameron, Ian Mongrain, Marie-Pierre Dubé
AIM: We have evaluated the pharmacogenetic content of commercial human genome-wide genotyping arrays, as it is a critical determinant to enabling pharmacogenomic discoveries. METHODS: Using bioinformatics approaches, we assessed 27,811 genetic variants in 3146 genes for their presence in 18 Illumina and 15 Affymetrix genome-wide arrays. RESULTS: The pharmacogenetic content of the arrays varied greatly. The combination of the Affymetrix precision medicine array and PharmacoScan arrays (Affymetrix) had the highest coverage for a set of clinically actionable absorption, distribution, metabolism and excretion (ADME) variants, single nucleotide ADME variants and ADME insertions/deletions, with a physical coverage of 125/130 (96...
October 2018: Pharmacogenomics
Erika Scott, Jafar S Hasbullah, Colin Jd Ross, Bruce C Carleton
No abstract text is available yet for this article.
October 2018: Pharmacogenomics
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