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Pharmacogenes

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https://www.readbyqxmd.com/read/29652911/pharmacogenetic-landscape-of-metabolic-syndrome-components-drug-response-in-tunisia-and-comparison-with-worldwide-populations
#1
Haifa Jmel, Lilia Romdhane, Yosra Ben Halima, Meriem Hechmi, Chokri Naouali, Hamza Dallali, Yosr Hamdi, Jingxuan Shan, Abdelmajid Abid, Henda Jamoussi, Sameh Trabelsi, Lotfi Chouchane, Donata Luiselli, Sonia Abdelhak, Rym Kefi
Genetic variation is an important determinant affecting either drug response or susceptibility to adverse drug reactions. Several studies have highlighted the importance of ethnicity in influencing drug response variability that should be considered during drug development. Our objective is to characterize the genetic variability of some pharmacogenes involved in the response to drugs used for the treatment of Metabolic Syndrome (MetS) in Tunisia and to compare our results to the worldwide populations. A set of 135 Tunisians was genotyped using the Affymetrix Chip 6...
2018: PloS One
https://www.readbyqxmd.com/read/29629825/cyp3a-pharmacogenetic-association-with-tacrolimus-pharmacokinetics-differs-based-on-route-of-drug-administration
#2
Amy L Pasternak, Lu Zhang, Daniel L Hertz
Tacrolimus is prescribed to the majority of transplant recipients to prevent graft rejection, and although patients are maintained on oral administration, nonoral routes of administration are frequently used in the initial post-transplant period. CYP3A5 genotype is an established predictor of oral tacrolimus dose requirements, and clinical guideline recommendations exist for CYP3A5-guided dose selection. However, the association between CYP3A5 and nonoral tacrolimus administration is currently poorly understood, and differs from the oral tacrolimus relationship...
April 9, 2018: Pharmacogenomics
https://www.readbyqxmd.com/read/29569526/pharmacogenetics-and-the-treatment-of-chronic-myeloid-leukemia-how-relevant-clinically-an-update
#3
Ravindran Ankathil, Husin Azlan, Abu Abdullah Dzarr, Abdul Aziz Baba
Despite the excellent efficacy and improved clinical responses obtained with imatinib mesylate (IM), development of resistance in a significant proportion of chronic myeloid leukemia (CML) patients on IM therapy have emerged as a challenging problem in clinical practice. Resistance to imatinib can be due to heterogeneous array of factors involving BCR/ABL-dependent and BCR/ABL-independent pathways. Although BCR/ABL mutation is the major contributory factor for IM resistance, reduced bio-availability of IM in leukemic cells is also an important pharmacokinetic factor that contributes to development of resistance to IM in CML patients...
March 23, 2018: Pharmacogenomics
https://www.readbyqxmd.com/read/29520079/a-6-week-laboratory-research-rotation-in-pharmacogenomics-a-model-for-preparing-pharmacy-students-to-practice-precision-medicine
#4
Prema S Rao, Ryan Endicott, Randy Mullins, U Subrahmanyeswara Rao
Comparison of human genome sequences from different individuals has unraveled that genes involved in the drug efficacy and metabolism are polymorphic, harboring mutations, splicing variations and other alterations. These data provide a reasonable explanation for the inter-individual variations observed in drug therapy. Thus, a detailed molecular analysis and an in-depth knowledge of these genes is a prerequisite to practice pharmacogenomics-based medicine. We have introduced a 6-week laboratory research rotation to train students in the expression analysis of different pharmacogenes combined with bioinformatics tools...
March 8, 2018: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29517466/allelic-frequencies-of-60-pharmacogene-variants-assessed-within-a-burmese-population-residing-in-northeast-indiana-usa
#5
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
https://www.readbyqxmd.com/read/29483503/allelic-decomposition-and-exact-genotyping-of-highly-polymorphic-and-structurally-variant-genes
#6
Ibrahim Numanagić, Salem Malikić, Michael Ford, Xiang Qin, Lorraine Toji, Milan Radovich, Todd C Skaar, Victoria M Pratt, Bonnie Berger, Steve Scherer, S Cenk Sahinalp
High-throughput sequencing provides the means to determine the allelic decomposition for any gene of interest-the number of copies and the exact sequence content of each copy of a gene. Although many clinically and functionally important genes are highly polymorphic and have undergone structural alterations, no high-throughput sequencing data analysis tool has yet been designed to effectively solve the full allelic decomposition problem. Here we introduce a combinatorial optimization framework that successfully resolves this challenging problem, including for genes with structural alterations...
February 26, 2018: Nature Communications
https://www.readbyqxmd.com/read/29360682/ontogeny-related-pharmacogene-changes-in-the-pediatric-liver-transcriptome
#7
Richard Meier, Chengpeng Bi, Roger Gaedigk, Daniel P Heruth, Shui Qing Ye, J Steven Leeder, Brooke L Fridley
OBJECTIVES: The majority of drug dosing studies are based on adult populations, with modification of the dosing for children based on size and weight. This rudimentary approach for drug dosing children is limited, as biologically a child can differ from an adult in far more aspects than just size and weight. Specifically, understanding the ontogeny of childhood liver development is critical in dosing drugs that are metabolized through the liver, as the rate of metabolism determines the duration and intensity of a drug's pharmacologic action...
March 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29315502/a-genome-wide-association-study-identifies-a-candidate-gene-associated-with-atazanavir-exposure-measured-in-hair
#8
Bani Tamraz, Yong Huang, Audrey L French, Seble Kassaye, Kathryn Anastos, Marek J Nowicki, Stephen Gange, Deborah R Gustafson, Peter Bacchetti, Ruth M Greenblatt, Pirro G Hysi, Bradley E Aouizerat
Hair provides a direct measure of long-term exposure of atazanavir (ATV). We report the results of the first genome-wide association study (GWAS) of ATV exposure measured in hair in an observational cohort representative of US women living with HIV; the Women's Interagency HIV Study. Approximately 14.1 million single nucleotide polymorphisms (SNPs) were analyzed in linear regression-based GWAS, with replication, adjusted for nongenetic predictors collected under conditions of actual use of ATV in 398 participants...
January 9, 2018: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/29261188/novel-copy-number-variations-in-pharmacogenes-contribute-to-interindividual-differences-in-drug-pharmacokinetics
#9
María Santos, Mikko Niemi, Masahiro Hiratsuka, Masaki Kumondai, Magnus Ingelman-Sundberg, Volker M Lauschke, Cristina Rodríguez-Antona
PurposeVariability in pharmacokinetics and drug response is shaped by single-nucleotide variants (SNVs) as well as copy-number variants (CNVs) in genes with importance for drug absorption, distribution, metabolism, and excretion (ADME). While SNVs have been extensively studied, a systematic assessment of the CNV landscape in ADME genes is lacking.MethodsWe integrated data from 2,504 whole genomes from the 1000 Genomes Project and 59,898 exomes from the Exome Aggregation Consortium to identify CNVs in 208 relevant pharmacogenes...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29190510/predicted-activity-of-ugt2b7-abcb1-oprm1-and-comt-using-full-gene-haplotypes-and-their-association-with-the-cyp2d6-inferred-metabolizer-phenotype
#10
Frank R Wendt, Antti Sajantila, Bruce Budowle
The pharmacogene, CYP2D6, is commonly used to infer metabolizer phenotype of many marketed drugs and endogenous toxins in ante- and post-mortem patients but only represents the efficiency of phase 1 metabolism. Downstream metabolic enzymes encoded by UGT2B7, ABCB1, OPRM1, and COMT also have been implicated in variable individual response to drugs due to their activity at different stages of the tramadol ADME (absorption, distribution, metabolism, and excretion) process. While commonly studied as single genes using targeted genotyping approaches, a more comprehensive tramadol metabolism profile has not been evaluated...
March 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29134625/the-pharmacogene-variation-pharmvar-consortium-incorporation-of-the-human-cytochrome-p450-cyp-allele-nomenclature-database
#11
Andrea Gaedigk, Magnus Ingelman-Sundberg, Neil A Miller, J Steven Leeder, Michelle Whirl-Carrillo, Teri E Klein
The Human Cytochrome P450 (CYP) Allele Nomenclature Database, a critical resource for the pharmacogenetics and genomics communities, has transitioned to the Pharmacogene Variation (PharmVar) Consortium. In this report we provide a summary of the current database, provide an overview of the PharmVar consortium, and highlight the PharmVar database which will serve as the new home for pharmacogene nomenclature.
November 14, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/29095103/distinctiveness-of-the-roma-population-within-cyp2b6-worldwide-variation
#12
Željka Tomas, Antonija Kuhanec, Tatjana Škarić-Jurić, Matea Zajc Petranović, Nina Smolej Narančić, Branka Janićijević, Marijana Peričić Salihović
AIM: To determine variation of CYP2B6 gene within the genetically specific Croatian Roma (Gypsy) population originating from India and to examine it in the worldwide perspective. MATERIALS & METHODS: Seven SNP loci (rs12721655, rs2279343, rs28399499, rs34097093, rs3745274, rs7260329 and rs8192709) were genotyped in 439 subjects using Kompetitive Allele Specific PCR (KASP) method. RESULTS: The Croatian Roma took an outlying position in CYP2B6 variation from the worldwide perspective mainly due to their exceptionally high minor allele frequency (MAF) for rs8192709 (12...
November 2, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28971357/alternative-splicing-expanding-diversity-in-major-abc-and-slc-drug-transporters
#13
Ji Eun Park, Gongmi Ryoo, Wooin Lee
Alternative splicing is an important mechanism of genetic regulation enhancing diversity and complexity of the transcriptome and proteome from the finite number of genes. Many reported cases demonstrate that alternative splicing events can lead to changes in the expression/function of proteins during disease development and progression. For pharmacogenes that can influence drug disposition and response, the role of alternative splicing has begun to receive increasing attention as an under-explored source of variable drug response...
November 2017: AAPS Journal
https://www.readbyqxmd.com/read/28887371/germline-genetic-variants-with-implications-for-disease-risk-and-therapeutic-outcomes
#14
REVIEW
Amy L Pasternak, Kristen M Ward, Jasmine A Luzum, Vicki L Ellingrod, Daniel L Hertz
Genetic testing has multiple clinical applications including disease risk assessment, diagnosis, and pharmacogenomics. Pharmacogenomics can be utilized to predict whether a pharmacologic therapy will be effective or to identify patients at risk for treatment-related toxicity. Although genetic tests are typically ordered for a distinct clinical purpose, the genetic variants that are found may have additional implications for either disease or pharmacology. This review will address multiple examples of germline genetic variants that are informative for both disease and pharmacogenomics...
October 1, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/28886082/haloperidol-induces-pharmacoepigenetic-response-by-modulating-mirna-expression-global-dna-methylation-and-expression-profiles-of-methylation-maintenance-genes-and-genes-involved-in-neurotransmission-in-neuronal-cells
#15
Babu Swathy, Moinak Banerjee
INTRODUCTION: Haloperidol has been extensively used in various psychiatric conditions. It has also been reported to induce severe side effects. We aimed to evaluate whether haloperidol can influence host methylome, and if so what are the possible mechanisms for it in neuronal cells. Impact on host methylome and miRNAs can have wide spread alterations in gene expression, which might possibly help in understanding how haloperidol may impact treatment response or induce side effects. METHODS: SK-N-SH, a neuroblasoma cell line was treated with haloperidol at 10μm concentration for 24 hours and global DNA methylation was evaluated...
2017: PloS One
https://www.readbyqxmd.com/read/28871186/analysis-of-population-specific-pharmacogenomic-variants-using-next-generation-sequencing-data
#16
Eunyong Ahn, Taesung Park
Functional rare variants in drug-related genes are believed to be highly differentiated between ethnic- or racial populations. However, knowledge of population differentiation (PD) of rare single-nucleotide variants (SNVs), remains widely lacking, with the highest fixation indices, (Fst values), from both rare and common variants annotated to specific genes, having only been marginally used to understand PD at the gene level. In this study, we suggest a new, gene-based PD method, PD of Rare and Common variants (PDRC), for analyzing rare variants, as inspired by Generalized Cochran-Mantel-Haenszel (GCMH) statistics, to identify highly population-differentiated drug response-related genes ("pharmacogenes")...
September 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28858993/pharmgkb-summary-very-important-pharmacogene-information-for-abcg2
#17
Alison E Fohner, Deanna J Brackman, Kathleen M Giacomini, Russ B Altman, Teri E Klein
No abstract text is available yet for this article.
November 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28840784/indirect-regulation-of-cyp2c19-gene-expression-via-dna-methylation
#18
Kathryn Elisa Burns, Phillip Shepherd, Graeme Finlay, Malcolm Drummond Tingle, Nuala Ann Helsby
Despite speculation that the CYP2C19 gene may contain CpG islands, there has been little direct assessment of the role for epigenetics in the regulation of this pharmacogene. The effect of 5-aza-2'-deoxycytidine (5azaDC), a DNA methyltransferase inhibitor, and trichostatin A (TSA), an inhibitor of histone deacetylases, on the expression of CYP2C19 and five of its known transcription factors (TF) has been assessed in cell lines derived from neoplastic liver and intestine. CYP2C19 mRNA was substantially up-regulated (>18-fold) after treatment with 5azaDC despite the fact that the two intronic CpG islands in this gene remained substantially methylated (>50%)...
August 25, 2017: Xenobiotica; the Fate of Foreign Compounds in Biological Systems
https://www.readbyqxmd.com/read/28835003/regulation-of-pharmacogene-expression-by-microrna-in-the-cancer-genome-atlas-tcga-research-network
#19
Nayoung Han, Yun-Kyoung Song, Gilbert J Burckart, Eunhee Ji, In-Wha Kim, Jung Mi Oh
Individual differences in drug responses are associated with genetic and epigenetic variability of pharmacogene expression. We aimed to identify the relevant miRNAs which regulate pharmacogenes associated with drug responses. The miRNA and mRNA expression profiles derived from data for normal and solid tumor tissues in The Cancer Genome Atlas (TCGA) Research Network. Predicted miRNAs targeted to pharmacogenes were identified using publicly available databases. A total of 95 pharmacogenes were selected from cholangiocarcinoma and colon adenocarcinoma, as well as kidney renal clear cell, liver hepatocellular, and lung squamous cell carcinomas...
September 1, 2017: Biomolecules & Therapeutics
https://www.readbyqxmd.com/read/28771511/exploring-public-genomics-data-for-population-pharmacogenomics
#20
Kleanthi Lakiotaki, Alexandros Kanterakis, Evgenia Kartsaki, Theodora Katsila, George P Patrinos, George Potamias
Racial and ethnic differences in drug responses are now well studied and documented. Pharmacogenomics research seeks to unravel the genetic underpinnings of inter-individual variability with the aim of tailored-made theranostics and therapeutics. Taking into account the differential expression of pharmacogenes coding for key metabolic enzymes and transporters that affect drug pharmacokinetics and pharmacodynamics, we advise that data interpretation and analysis need to occur in light of geographical ancestry, if implications for drug development and global health are to be considered...
2017: PloS One
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