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Carrie C Hoefer, Emily J Brick, Ann Savariar, David F Kisor, Amy Dawson, Ahmad Khatri, Brian Henriksen
AIM: The aim of this study was to investigate 60 SNPs pertaining to drug metabolism and pharmacodynamics in the Burmese refugee population in the Fort Wayne, Indiana area to better inform patient care. MATERIALS & METHODS: Sixty-two self-identified Burmese refugees were genotyped for 60 common SNPs pertaining to pharmacokinetic and pharmacodynamic pharmacogenes. The resulting allelic frequencies were compared with Ensembl's database for surrounding populations to Myanmar and America...
March 8, 2018: Pharmacogenomics
Huan-Yu Meng, Zhao-Hui Luo, Bo Hu, Wan-Lin Jin, Cheng-Kai Yan, Zhi-Bin Li, Yuan-Yuan Xue, Yu Liu, Yi-En Luo, Li-Qun Xu, Huan Yang
Recent studies have suggested that genomic diversity may play a key role in different clinical outcomes, and the importance of SNPs is becoming increasingly clear. In this article, we summarize the bioactivity of SNPs that may affect the sensitivity to or possibility of drug reactions that occur among the signaling pathways of regularly used immunosuppressants, such as glucocorticoids, azathioprine, tacrolimus, mycophenolate mofetil, cyclophosphamide and methotrexate. The development of bioinformatics, including machine learning models, has enabled prediction of the proper immunosuppressant dosage with minimal adverse drug reactions for patients after organ transplantation or for those with autoimmune diseases...
March 8, 2018: Pharmacogenomics
Wenjing Xiao, Jian-Ping Guo, Chun Li, Hua Ye, Wei Wei, Yaohong Zou, Lie Dai, Zhijun Li, Miaojia Zhang, Xiangpei Li, Xiaoyan Cai, Jianhong Zhao, Youlian Wang, Yi Tao, Dongzhou Liu, Yasong Li, Min Wu, Erwei Sun, Lijun Wu, Li Luo, Rong Mu, Zhanguo Li
Iguratimod (IGU) is a novel disease-modifying anti-rheumatic drug (DMARD) in rheumatoid arthritis (RA). Like other DMARDs, IGU exhibited significant differences in effectiveness and safety. AIM: The aim of this study was to identify genetic predictorsof efficacyand toxicity of IGU in patients with RA. MATERIALS & METHODS: Seven SNPs from IGU-metabolizing genes were genotyped in 272 IGU-treated patients with RA. Results: ABCG2 rs2231142 A allele conferred a higher response to IGU, while NAT2 rs1495742 G carriersconferred a lower response to IGU...
March 8, 2018: Pharmacogenomics
Paul Cd Bank, Jesse J Swen, Henk-Jan Guchelaar
AIM: To benchmark knowledge and attitude of pharmacy students toward pharmacogenetics (PGx) and PGx testing and compare the results with practicing colleagues. METHODS: All pharmacy students in The Netherlands were invited to participate in a web-based survey consisting of 28 questions. Out of the 824 invited students, 148 individuals (18.0%) completed the questionnaire. All responders believed in the concept of PGx and had high expectations toward PGx. The majority (96...
February 23, 2018: Pharmacogenomics
Amy A Lemke, Peter J Hulick, Dyson T Wake, Chi Wang, Annette W Sereika, Kristen Dilzell Yu, Nicole S Glaser, Henry M Dunnenberger
AIM: To assess patient perceptions and utilization of pharmacogenomics (PGx) testing in an integrated community health system. METHODS: Fifty-seven patients completed an online survey assessing their experiences with PGx testing offered through two methods: a designated PGx clinic or direct access in-home testing. RESULTS: The majority of participants perceived PGx testing as helpful in their healthcare and reported understanding their results...
February 22, 2018: Pharmacogenomics
Maitane Umerez, Susana Garcia-Obregon, Idoia Martin-Guerrero, Itziar Astigarraga, Angela Gutierrez-Camino, Africa Garcia-Orad
Childhood acute lymphoblastic leukemia survival rates have increased remarkably during last decades due, in part, to intensive treatment protocols. However, therapy resistance and toxicity are still two important barriers to survival. In this context, pharmacoepigenetics arises as a tool to identify new predictive markers, required to guide clinicians on risk stratification and dose individualization. The present study reviews current evidence about miRNA implication on childhood acute lymphoblastic leukemia therapy resistance and toxicity...
February 22, 2018: Pharmacogenomics
Guo Xutao, Shi PengCheng, Li Yin, Dong Huijuan, Wang Yan, Zheng Haiqing, Xu Bing
Acute myeloid leukemia (AML) is a heterogeneous malignant disease. Many different genetic factors can affect a patient's clinical outcome. AIM: The aim of this study was to assess the expression of BCL11A and MDR1 in AML patients, and its relation to clinical outcome. MATERIALS & METHODS: We grouped the 142 patients by the levels of BCL11A and MDR1 and identified three different subgroups: high BCL11A and high MDR1 (n = 47), low BCL11A and low MDR1 (n = 47) and high BCL11A alone or high MDR1 alone (n = 48)...
February 22, 2018: Pharmacogenomics
Nuria Lloberas, Dennis A Hesselink, Ron Hn van Schaik, Josep M Grinyò, Helena Colom, Teun van Gelder, Laure Elens
A validated CYP3A genotype classification system allows clustering patients into poor, intermediate and extensive metabolizer phenotypes. However, substantial overlap exists between the clusters. A rare CYP3A4 allele, named CYP3A4*20 (rs67666821), has been specifically described in the Spanish population. The authors investigated the relevance of CYP3A4*20 testing to see if the above-mentioned metabolic CYP3A classification system can be improved. In a cohort of 204 kidney transplant recipients, one male patient carrying a CYP3A4*20 allele was detected...
February 22, 2018: Pharmacogenomics
Orna Levran, Einat Peles, Matthew Randesi, Joel Correa da Rosa, Pei-Hong Shen, John Rotrosen, Miriam Adelson, Mary Jeanne Kreek
AIM: This study assesses whether genetic variants in stress-related genes are associated with prolonged abstinence from heroin in subjects that are not in long-term methadone treatment. METHODS: Frequencies of 117 polymorphisms in 30 genes were compared between subjects with history of heroin addiction, either without agonist treatment (n = 129) or in methadone maintenance treatment (n = 923). RESULTS: SNP rs1500 downstream of CRHBP and an interaction of SNPs rs10482672 (NR3C1) and rs4234955 (NPY1R/NPY5R) were significantly associated with prolonged abstinence without agonist treatment...
February 21, 2018: Pharmacogenomics
Ditte Bjerre, Henrik Berg Rasmussen
AIM: Development of a specific procedure for genotyping of CES1A1 (CES1) and CES1A2, a hybrid of CES1A1 and the pseudogene CES1P1. MATERIALS & METHODS: The number of CES1A1 and CES1A2 copies and that of CES1P1 were determined using real-time PCR. Long range PCRs followed by secondary PCRs allowed sequencing of single nucleotide variants in CES1A1 and CES1A2. Results & conlusion: A procedure consisting of two main steps was developed. Its first main step, the copy number determination, informed about presence of CES1A2 ...
February 19, 2018: Pharmacogenomics
Rossana Roncato, Erika Cecchin, Giuseppe Toffoli
No abstract text is available yet for this article.
February 14, 2018: Pharmacogenomics
Ari Allyn-Feuer, Alex Ade, Jasmine A Luzum, Gerald A Higgins, Brian D Athey
AIM: 'Pharmacoepigenomics' methods informed by omics datasets and pre-existing knowledge have yielded discoveries in neuropsychiatric pharmacogenomics. Now we evaluate the generality of these methods by discovering an extended warfarin pharmacogenomics pathway. MATERIALS & METHODS: We developed the pharmacoepigenomics informatics pipeline, a scalable multi-omics variant screening pipeline for pharmacogenomics, and conducted an experiment in the genomics of warfarin...
February 5, 2018: Pharmacogenomics
Jennifer G Gaultney, Therese W Ng, Carin A Uyl-de Groot, Pieter Sonneveld, Erik H van Beers, Martin H van Vliet, William K Redekop
Biomarkers associated with prognosis in multiple myeloma (MM) can be used to stratify patients into risk categories. An attractive alternative to uniform treatment (UT), risk-stratified treatment (RST) is proposed where high-risk patients receive bortezomib-based regimens while standard-risk patients receive alternative less costly regimens. An early Markov-type decision analytic model evaluated the potential therapeutic and economic value of different RST strategies compared with UT in MM patients in key European countries...
January 15, 2018: Pharmacogenomics
Inês Nogueira, Francisca Dias, Ana Luísa Teixeira, Rui Medeiros
Renal cell carcinoma (RCC) is the most commonly occurring solid cancer of the adult kidney with the majority of RCC cases being detected accidentally. The most aggressive subtype is clear cell RCC (ccRCC). miRNAs, a family of small noncoding RNAs regulating gene expression have been identified as key biological modulators. The von Hippel-Lindau pathway is one of the signaling pathways involved in the pathophysiology of ccRCC. Another oncogenic mechanism involves the activation of PI3K/AKT/mTOR signaling and serves as a central regulator of cell metabolism, proliferation and survival...
January 15, 2018: Pharmacogenomics
Lazara Karelia Montané Jaime, Jeffrey Paul, Anthony Lalla, George Legall, Andrea Gaedigk
AIM: This study aimed to assess the impact of CYP2D6 and CYP2C19 variation on venlafaxine (VEN) at steady state in patients from Trinidad and Tobago of Indian and African descent with major depressive disorder. PATIENTS & METHODS: Patients were phenotyped with dextromethorphan, genotyped for CYP2D6 and CYP2C19, and metabolic ratios for VEN obtained at 2-week intervals. RESULTS: Of 61 patients, 55 were genotyped and phenotyped and 47 completed 8 weeks of VEN treatment...
January 12, 2018: Pharmacogenomics
Eva Dreussi, Fabrizio Ecca, Lucia Scarabel, Sara Gagno, Giuseppe Toffoli
The immune system is a double-edged sword with regard to the prostate cancer (PCa) battle. Immunogenetics, the study of the potential role of immune-related polymorphisms, is taking its first steps in the treatment of this malignancy. This review summarizes the most recent papers addressing the potential of immunogenetics in PCa, reporting immune-related polymorphisms associated with tumor aggressiveness, treatment toxicity and patients' prognosis. With some peculiarities, RNASEL, IL-6, IL-10, IL-1β and MMP7 have arisen as the most significant biomarkers in PCa treatment and management, having a potential clinical role...
January 12, 2018: Pharmacogenomics
Dyfrig A Hughes, Catrin O Plumpton
Pharmacogenetic tests are being used increasingly to prevent rare and potentially life-threatening adverse drug reactions. For many tests, however, cost-effectiveness is hard to demonstrate, and with the exception of a few cases, widespread implementation remains a distant prospect. Many orphan drugs for rare diseases are also not cost effective but are nonetheless normally reimbursed. In this article, we argue that the health technology assessment of pharmacogenetic tests aimed to prevent rare but severe adverse drug reactions should be on a level playing field with orphan drugs...
February 2018: Pharmacogenomics
James M Stevenson
No abstract text is available yet for this article.
February 2018: Pharmacogenomics
Misbahuddin Mohd Rafeeq, Hamed Said Habib, Hussam Aly Sayed Murad, Mamdouh Abdullah Gari, Zohair Jamil Gazzaz
AIM: Genetic variants contribute to statins' therapeutic variability. SREBF-SCAP pathway is a key player in lipid homeostasis. Hence, effect of SREBF-SCAP polymorphisms on therapeutic response was studied. PATIENTS & METHODS: Metabolic syndrome patients of either sex were prescribed rosuvastatin 10 mg for 24 weeks. Clinical, anthropometric and lipid measurements were done before and after treatment. Genotyping was done by pyrosequencing. RESULTS & CONCLUSION: No associations of SCAP and SREBF-1a genotypes with baseline lipids but significant associations with lipid reductions were observed...
February 2018: Pharmacogenomics
Shangchen Xie, Wenjuan Ma, Qulian Guo, Jie Liu, Wei Li, Howard L McLeod, Yijing He
General anesthesia is a state of unconsciousness, amnesia, analgesia and akinesia induced by drugs including opioids, hypnotic-sedative agents, muscle relaxants and antiemetics. Clinical and genetic factors are reported to influence the efficacy and side effects of these agents. Based on the evidence, clinical action is needed to improve clinical outcomes. This review summarizes the latest knowledge with regards to the pharmacogenetics of anesthetics and general anesthesia related complications.
February 2018: Pharmacogenomics
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