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Monpat Chamnanphon, Andrea Gaedigk, Natchaya Vanwong, Nopphadol Nuntamool, Yaowaluck Hongkaew, Apichaya Puangpetch, Chonlaphat Sukasem
The highly polymorphic CYP2D6 gene locus leads to a wide range of enzyme activity. Since there are limited data for Thai, the major aim was to investigate CYP2D6 genetic variation in a large Thai population (n = 920). CYP2D6 genotyping was performed using four different platforms. Genotype call rates of the Luminex xTAG® and AmpliChip CYP450 test were 96.5% and 87.4%, respectively. Based on Luminex xTAG® data, the most common alleles and genotypes were *1 0 (49.6%), *1 (24.6%), *2 (10.8%), *5 (6.7%), *41 (6...
July 11, 2018: Pharmacogenomics
Mario Frias, Antonio Rivero-Juárez, Pedro López-López, Antonio Rivero
This review will summarize the role of pharmacogenetics in the natural history of hepatitis C, particularly in patients with HIV/HCV and will take the perspective of pharmacogenetics and its influence on the response to antiviral therapy and the susceptibility to develop adverse effects. This review will also devote a section to host genetics in other clinical situations, such as disease progression and acute HCV infection, which may determine whether treatment of HIV-/HCV-coinfected patients is implemented or deferred...
July 11, 2018: Pharmacogenomics
Rong Liu, Rong Hu, Wei Zhang, Hong-Hao Zhou
AIM: We aimed to develop a long noncoding RNA (lncRNA) expression signature that can predict response to tamoxifen. MATERIALS & METHODS: LncRNA expression profiling was mined in two cohorts from Gene Expression Omnibus (GSE6532, GSE9195, n = 412). RESULTS: A set of lncRNAs (LINC01191, RP4-639F20.1 and CTC-429P9.3) associated with distant metastasis-free survival was established. Estrogen receptor-positive breast cancer patients in the training series could be classified into high- and low-risk groups with significantly different distant metastasis-free survival values based on this signature (hazard ratio [HR]: 5...
July 9, 2018: Pharmacogenomics
Tingting Zhang, Ying Xiao, Yanxia Wang, Yanwei Li, Lirong Zhang, Chao Chen, Huijuan Wang
AIM: HLA-A*31:01 has been associated with carbamazepine-induced hypersensitivity reactions. HLA-A*31:01 genetic testing is recommended before the initiation of carbamazepine therapy. METHODS: A novel real-time PCR assay was designed for HLA-A*31:01 detection by allele-specific primers and TaqMan minor groove binding probes. RESULTS: The genotyping results in 100 subjects by the established method who were in 100% agreement with the sequencing-based typing method...
June 21, 2018: Pharmacogenomics
Giovanna Li Petri, Stella Cascioferro, Barbara Parrino, Godefridus J Peters, Patrizia Diana, Elisa Giovannetti
No abstract text is available yet for this article.
June 19, 2018: Pharmacogenomics
Nagaraja M Phani, Manik Vohra, Ananth Kakar, Prabha Adhikari, Shivashankara K Nagri, Sydney C D'Souza, Shashikiran Umakanth, Kapaettu Satyamoorthy, Padmalatha S Rai
AIM: Metformin, an oral hypoglycemic drug is the first line of treatment for Type 2 diabetes individuals. We studied the effect of critical gene single nucleotide polymorphisms  on the glucose lowering effect of metformin. METHOD: We performed a prospective study on 221 newly diagnosed, treatment-naive Type 2 diabetes subjects. Individuals were started with metformin monotherapy and followed up for 12 weeks. RESULTS: Our association analysis revealed that SLC22A2 rs316019 and SLC47A2 rs12943590 were significantly associated with metformin drug response across co-dominant and dominant models, respectively...
June 19, 2018: Pharmacogenomics
Georgios Schoretsanitis, Jose de Leon, Francisco J Diaz
AIM: The role of sex on the association of plasma prolactin levels with risperidone (R) and 9-hydroxyrisperidone (9-OHR) concentrations is investigated. METHODS: Plasma R and prolactin concentrations, CYP2D6 and exon 21 and 26 ABCB1 gene variants were studied in 110 patients. RESULTS: In females, a 1 ng/ml increase in R levels was associated with a significant 1.02% increase in prolactin levels. In males, a 1 ng/ml increase in 9-OHR levels was associated with a significant 1...
June 19, 2018: Pharmacogenomics
Zohra Chadli, Chayma Ladhari, Emna Kerkeni, Amira Djobbi, Nadia B Fredj, Amel Chaabane, Naceur A Boughattas, Karim Aouam
Recent studies have suggested an association between mutations in the IL-36RN gene and the onset of pustular generalized. In the literature, only one case of acute generalized exanthematous pustulosis (AGEP) induced by codeine in a patient with IL36RN mutation has been reported. Herein, we reported an unusual case of AGEP caused by codeine in a patient with a history of psoriasis and confirmed by an oral provocation test. In this case, we have shown that the IL36RN gene mutation is not a constant condition in drug-induced AGEP...
June 19, 2018: Pharmacogenomics
Kelly E Caudle, Nicholas J Keeling, Teri E Klein, Michelle Whirl-Carrillo, Victoria M Pratt, James M Hoffman
Successfully implementing pharmacogenomics into routine clinical practice requires an efficient process to order genetic tests and report the results to clinicians and patients. Lack of standardized approaches and terminology in clinical laboratory processes, ordering of the test and reporting of test results all impede this workflow. Expert groups such as the Association for Molecular Pathology and the Clinical Pharmacogenetics Implementation Consortium have published recommendations for standardizing laboratory genetic testing, reporting and terminology...
June 19, 2018: Pharmacogenomics
Sarah Allegra, Giovanna Fatiguso, Silvia De Francia, Elisa Pirro, Chiara Carcieri, Jessica Cusato, Amedeo De Nicolò, Valeria Avataneo, Giovanni Di Perri, Antonio D'Avolio
AIM: We explored the role of SNPs within the SLCO1B3, SLCO1B1, SLC22A6, ABCB1, ABCG2, SLCO3A1, CYP2C19, ABCC2, SLC22A1, ABCB11 and NR1I2 genes on voriconazole pharmacokinetics. PATIENTS & METHODS: 233 pediatric patients were enrolled. Drug plasma Ctrough was measured by a HPLC-MS method. Allelic discrimination was performed by qualitative real-time PCR. RESULTS: SLCO1B3 rs4149117 c.334 GT/TT (p = 0.046), ABCG2 rs13120400 c.1194 + 928 CC (p = 0...
June 19, 2018: Pharmacogenomics
Olivia M Dong, Amy Li, Oscar Suzuki, Akinyemi Oni-Orisan, Ricardo Gonzalez, George A Stouffer, Craig R Lee, Tim Wiltshire
AIM: To determine the projected impact of a multigene pharmacogenetic (PGx) test on medication prescribing. MATERIALS & METHODS: A retrospective analysis was conducted with 122 cardiac catheterization laboratory patients undergoing angiography for eligibility of potential PGx-guided interventions that could have occurred if multigene PGx information was pre-emptively available at the time of the procedure. Medication data and presence of actionable at-risk genotypes were used to determine eligibility of a PGx intervention...
May 25, 2018: Pharmacogenomics
Kevin M Huang, Shuiying Hu, Alex Sparreboom
The solute carrier superfamily comprises of uptake transporters that can contribute to the absorption and elimination of a broad array of clinically important drugs. Recent studies have suggested that the tissue-specific expression of these transporters may have important consequences for an individual's susceptibility to drug-induced organ damage or to drug-drug interactions. Polymorphic variants have been identified in genes encoded by this family, and some of these have been associated with functional changes in transport function and response to anthracycline-induced toxicity and efficacy...
July 1, 2018: Pharmacogenomics
Lin Yang, Brenda Cm de Winter, Ron Hn van Schaik, Rui-Xiang Xie, Yi Li, Louise M Andrews, Nauras Shuker, Soma Bahmany, Birgit Koch, Teun van Gelder, Dennis A Hesselink
AIM: To investigate the association between donor CYP3A5 and ABCB1 polymorphisms and tacrolimus (Tac)-induced nephrotoxicity and renal function in kidney transplant recipients. METHODS: The CYP3A5 6986A>G and ABCB1 3435C>T polymorphisms were determined in 237 recipients and donors. RESULTS: There was no significant association between Tac-related nephrotoxicity and donor CYP3A5 and ABCB1 genotype. The donor ABCB1 3435C>T polymorphism was associated with estimated glomerular filtration rate on day 7 and month 1...
July 1, 2018: Pharmacogenomics
Naji C Salloum, Erica Lf Buchalter, Swati Chanani, Gemma Espejo, Mahjabeen S Ismail, Randy O Laine, Maysaa Nageeb, A Benjamin Srivastava, Nicholas Trapp, Ludwig Trillo, Erica Vance, Michael Wenzinger, Sarah M Hartz, Sean P David, Li-Shiun Chen
Smoking cessation treatment outcomes may be heavily influenced by genetic variations among smokers. Therefore, identifying specific variants that affect response to different pharmacotherapies is of major interest to the field. In the current study, we systematically review all studies published in or after the year 1990 which examined one or more gene-drug interactions for smoking cessation treatment. Out of 644 citations, 46 articles met the inclusion criteria for the systematic review. We summarize evidence on several genetic polymorphisms (CHRNA5-A3-B4, CYP2A6, DBH, CHRNA4, COMT, DRD2, DRD4 and CYP2B6) and their potential moderating pharamacotherarpy effects on patient cessation efficacy rates...
July 1, 2018: Pharmacogenomics
Jorge Duconge, Gualberto Ruaño
No abstract text is available yet for this article.
July 1, 2018: Pharmacogenomics
Catharina Lippmann, Dario Kringel, Alfred Ultsch, Jörn Lötsch
Persistent pain is a major healthcare problem affecting a fifth of adults worldwide with still limited treatment options. The search for new analgesics increasingly includes the novel research area of functional genomics, which combines data derived from various processes related to DNA sequence, gene expression or protein function and uses advanced methods of data mining and knowledge discovery with the goal of understanding the relationship between the genome and the phenotype. Its use in drug discovery and repurposing for analgesic indications has so far been performed using knowledge discovery in gene function and drug target-related databases; next-generation sequencing; and functional proteomics-based approaches...
June 1, 2018: Pharmacogenomics
Ana Sofia Patrão, Francisca Dias, Ana Luísa Teixeira, Joaquina Maurício, Rui Medeiros
miRNAs are small noncoding RNA molecules that have a very important role in gene expression regulation and, therefore, in cell homeostasis. SNPs in certain miRNA-related genes have been shown to influence cancer risk and prognosis. miRNA cellular processing is complex and involves multiple proteins. XPO5 is a key factor in this process as it is responsible for the nuclear export of the precursor pre-miRNA to the cytoplasm, where it will be further processed to its final miRNA conformation in order to be loaded to RNA inducing silencing complex to exert its regulatory effect...
June 1, 2018: Pharmacogenomics
Raymon Vijzelaar, Mariana R Botton, Lisette Stolk, Suparna Martis, Robert J Desnick, Stuart A Scott
AIM: To develop a SULT1A1 multiplex ligation-dependent probe amplification assay and to investigate multi-ethnic copy number variant frequencies. METHODS: A novel multiplex ligation-dependent probe amplification assay was developed and tested on 472 African-American, Asian, Caucasian, Hispanic and Ashkenazi Jewish individuals. RESULTS: The frequencies of atypical total copy number (i.e., greater or less than two) were 38.7% for Hispanics, 38...
June 1, 2018: Pharmacogenomics
Said El Shamieh, Fatima Saleh, Salim Moussa, Joseph Kattan, Fadi Farhat
Triple-negative breast cancer (TNBC) is characterized by its aggressive behavior, metastasis and lack of targeted therapies. Herein, we discuss the clinical, histopathological and genetic profile of a woman diagnosed with TNBC. Since the patient had no durable response to chemotherapy, a genetic profiling was carried out. Next-generation sequencing analysis of 592 genes showed a missense mutation, p.E545A in PIK3CA, thus the patient was started on the mTOR inhibitor everolimus, in combination with exemestane, which controlled her pain; however, the disease progressed aggressively...
June 1, 2018: Pharmacogenomics
Robert D Beckett, David F Kisor, Thomas Smith, Brooke Vonada
AIM: To systematically assess methodological quality of pharmacogenomics clinical practice guidelines. METHODS: Guidelines published through 2017 were reviewed by at least three independent reviewers using the AGREE II instrument, which consists of 23 items grouped into 6 domains and 2 items representing an overall assessment. Items were assessed on a seven-point rating scale, and aggregate quality scores were calculated. RESULTS: 31 articles were included...
June 1, 2018: Pharmacogenomics
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