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Pharmacogenetics and Genomics

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https://www.readbyqxmd.com/read/28099407/effects-of-functional-cyp2c8-cyp2c9-cyp3a5-and-abcb1-genetic-variants-on-the-pharmacokinetics-of-insulin-sensitizer-pioglitazone-in-chinese-han-individuals
#1
Sheng-Ju Yin, Hui-Min Qi, Xin Wang, Pu Zhang, Yuan Lu, Min-Ji Wei, Pu Li, Guang-Zhao Qi, Ya-Qing Lou, Chuang Lu, Guo-Liang Zhang
BACKGROUND AND OBJECTIVES: Pioglitazone is a thiazolidinedione antihyperglycemic drug with insulin-sensitizing properties. We investigated whether the variant genotypes of cytochrome P450 2C8 (CYP2C8), CYP2C9, CYP3A5 and transporter ABCB1 influence the pharmacokinetic phenotype of the substrate pioglitazone in Chinese individuals. PARTICIPANTS AND METHODS: Single-nucleotide polymorphisms were determined by the PCR-restriction fragment length polymorphism method in 244 (CYP2C8 and CYP2C9) healthy Chinese Han individuals...
January 17, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28099408/multiphenotype-association-study-of-patients-randomized-to-initiate-antiretroviral-regimens-in-aids-clinical-trials-group-protocol-a5202
#2
Anurag Verma, Yuki Bradford, Shefali S Verma, Sarah A Pendergrass, Eric S Daar, Charles Venuto, Gene D Morse, Marylyn D Ritchie, David W Haas
BACKGROUND: High-throughput approaches are increasingly being used to identify genetic associations across multiple phenotypes simultaneously. Here, we describe a pilot analysis that considered multiple on-treatment laboratory phenotypes from antiretroviral therapy-naive patients who were randomized to initiate antiretroviral regimens in a prospective clinical trial, AIDS Clinical Trials Group protocol A5202. PARTICIPANTS AND METHODS: From among 5 9545 294 polymorphisms imputed genome-wide, we analyzed 2544, including 2124 annotated in the PharmGKB, and 420 previously associated with traits in the GWAS Catalog...
January 5, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28059867/influence-of-the-kdm4a-rs586339-polymorphism-on-overall-survival-in-asian-non-small-cell-lung-cancer-patients
#3
Charlie Marvalim, Jing Xiang Gimson Wong, Natalia Sutiman, Wan Teck Lim, Shao Weng Tan, Ravindran Kanesvaran, Quan Sing Ng, Amit Jain, Mei Kim Ang, Wan Ling Tan, Chee Keong Toh, Eng Huat Tan, Balram Chowbay
The critical role of lysine demethylase 4A (KDM4A), in regulating chromatin structure and consequently in driving cellular proliferation and oncogenesis has been the focus of recent studies. Non-small-cell lung cancer (NSCLC) patients with adenocarcinoma histology who were homozygous for KDM4A single nucleotide polymorphism (SNP)-A482 (rs586339) were recently shown to have significantly worse overall survival (OS) compared with patients with the wild-type or the heterozygous genotype at this locus (hazard ratio=1...
January 2, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28030426/meta-analysis-of-genome-wide-association-studies-on-the-intolerance-of-angiotensin-converting-enzyme-inhibitors
#4
Seyed H Mahmoudpour, Abirami Veluchamy, Moneeza K Siddiqui, Folkert W Asselbergs, Patrick C Souverein, Catherine E de Keyser, Albert Hofman, Chim C Lang, Alexander S F Doney, Bruno H Stricker, Anthonius de Boer, Anke-Hilse Maitland-van der Zee, Colin N A Palmer
OBJECTIVES: To identify single nucleotide polymorphisms (SNPs) associated with switching from an angiotensin-converting enzyme (ACE)-inhibitor to an angiotensin receptor blocker. METHODS: Two cohorts of patients starting ACE-inhibitors were identified within the Rotterdam Study in the Netherlands and the Genetics of Diabetes Audit and Research in Tayside Scotland study in Scotland. Cases were intolerant patients who switched from an ACE-inhibitor to an angiotensin receptor blocker and controls were individuals who used ACE-inhibitors continuously for at least 2 years and did not switch...
December 26, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27984508/characterization-of-adme-gene-variation-in-21-populations-by-exome-sequencing
#5
Daniel H Hovelson, Zhengyu Xue, Matthew Zawistowski, Margaret G Ehm, Elizabeth C Harris, Sophie L Stocker, Annette S Gross, In-Jin Jang, Ichiro Ieiri, Jong-Eun Lee, Lon R Cardon, Stephanie L Chissoe, Gonçalo Abecasis, Matthew R Nelson
OBJECTIVE: Proteins involving absorption, distribution, metabolism, and excretion (ADME) play a critical role in drug pharmacokinetics. The type and frequency of genetic variation in the ADME genes differ among populations. The aim of this study was to systematically investigate common and rare ADME coding variation in diverse ethnic populations by exome sequencing. MATERIALS AND METHODS: Data derived from commercial exome capture arrays and next-generation sequencing were used to characterize coding variation in 298 ADME genes in 251 Northeast Asians and 1181 individuals from the 1000 Genomes Project...
December 15, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27977511/rituximab-response-in-follicular-lymphoma-is-associated-with-the-rs20575-polymorphism-in-trailr1-extrinsic-apoptosis-trigger
#6
Rocío Gutiérrez-Cívicos, Ana M Hurtado, Daniel Torres-Moreno, José J Sanchez-Blanco, Ignacio Español, Luciano Consuegra-Sánchez, Elena Perez-Ceballos, María D Gutiérrez-Meca, Andrés Jerez, Pablo Conesa-Zamora
OBJECTIVE: Rituximab in combination with chemotherapy has been proven to increase progression-free and overall survival in follicular lymphoma (FL), but there is considerable interindividual variability in the response. Extrinsic pathway apoptosis triggered by death receptors seems to be involved in the mechanism of action of monoclonal antibodies. This study aimed to assess the association between TRAILR1/TRAIL polymorphisms (rs20575, rs20576, rs2230229, rs12488654) and rituximab response and the relationship with FASL rs763110, previously found to be associated with rituximab response...
December 13, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27977510/a-comprehensive-contribution-of-genes-for-aryl-hydrocarbon-receptor-signaling-pathway-to-hypertension-susceptibility
#7
Alexey V Polonikov, Olga Yu Bushueva, Irina V Bulgakova, Maxim B Freidin, Mikhail I Churnosov, Maria A Solodilova, Yaroslav D Shvetsov, Vladimir P Ivanov
OBJECTIVE: The present study was designed to investigate whether genetic polymorphisms of the aryl hydrocarbon receptor (AHR) signaling pathway are involved in the molecular basis of essential hypertension (EH). METHODS: A total of 2160 unrelated Russian individuals comprising 1341 EH patients and 819 healthy controls were recruited into the study. Seven common AHR pathway single-nucleotide polymorphisms (SNPs) such as rs2066853, rs2292596, rs2228099, rs1048943, rs762551, rs1056836, and rs1800566 were genotyped by TaqMan-based allele discrimination assays...
December 13, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27926584/common-single-nucleotide-polymorphisms-in-transient-receptor-potential-melastatin-type-6-increase-the-risk-for-proton-pump-inhibitor-induced-hypomagnesemia-a-case-control-study
#8
Mark W Hess, Jeroen H F de Baaij, Mark M T J Broekman, Tanya M Bisseling, Bertram J T Haarhuis, Adriaan C I T L Tan, René H M Te Morsche, Joost G J Hoenderop, René J M Bindels, Joost P H Drenth
OBJECTIVE: Proton pump inhibitors (PPIs) are effective drugs for the treatment of gastric acid-related disorders. Serious adverse events are rare for PPIs, but recent data suggest that PPIs cause hypomagnesemia. The aim of this study was to estimate the frequency of PPI-induced hypomagnesemia and to define the risk factors for its development. MATERIALS AND METHODS: A total of 133 chronic users of PPIs were enrolled and patients were distinguished on the basis of their serum Mg concentrations...
December 6, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27922550/a-novel-abcc6-haplotype-is-associated-with-azathioprine-drug-response-in-myasthenia-gravis
#9
Lara Colleoni, Barbara Galbardi, Claudia Barzago, Silvia Bonanno, Sara Franzi, Rita Frangiamore, Giorgia Camera, Maria Foti, Donatella Biancolini, Eleonora Canioni, Lorenzo Maggi, Carlo Antozzi, Renato Mantegazza, Pia Bernasconi, Dimos Kapetis
OBJECTIVE: We investigated the association of single nucleotide polymorphisms (SNPs) in drug-metabolizing enzymes and transporters (DMETs) with the response to azathioprine (AZA) in patients affected by myasthenia gravis (MG) to determine possible genotype-phenotype correlations. PATIENTS AND METHODS: Genomic DNA from 180 AZA-treated MG patients was screened through the Affymetrix DMET platform, which characterizes 1931 SNPs in 225 genes. The significant SNPs, identified to be involved in AZA response, were subsequently validated by allelic discrimination and direct sequencing...
December 2, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27846189/the-plausible-association-of-mthfr-and-adora2a-polymorphisms-with-nodules-in-rheumatoid-arthritis-patients-treated-with-methotrexate
#10
Tomas Soukup, Martin Dosedel, Jana Nekvindova, Ales Antonin Kubena, Ilja Tacheci, Jurjen Duintjer Tebbens, Jiri Vlcek, Petr Bradna, Ivan Barvik, Petr Pavek
OBJECTIVE: The treatment of rheumatoid arthritis (RA) patients with methotrexate (MTX) is linked to the development or progression of rheumatoid nodules. The aim of this study was to determine whether folate and adenosine pathways-related single nucleotide polymorphisms might be predictive of increased nodule formation in RA patients treated with oral MTX. METHODS: A total of 185 Caucasian RA patients were enrolled in this cross-sectional study, all of whom fulfilled the 1987 RA criteria of the American College of Rheumatology; each patient had a history of MTX treatment...
November 14, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27831961/nomenclature-for-alleles-of-the-human-carboxylesterase-1-gene
#11
Henrik B Rasmussen, Majbritt B Madsen, Peter R Hansen
No abstract text is available yet for this article.
November 9, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28059981/hla-b-57
#12
Felicia S Falvella, Stefania Cheli, Emilio Clementi
No abstract text is available yet for this article.
February 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27846195/genome-wide-association-study-of-paliperidone-efficacy
#13
Qingqin Li, Nathan E Wineinger, Dong-Jing Fu, Ondrej Libiger, Larry Alphs, Adam Savitz, Srihari Gopal, Nadine Cohen, Nicholas J Schork
OBJECTIVE: Clinical response to the atypical antipsychotic paliperidone is known to vary among schizophrenic patients. We carried out a genome-wide association study to identify common genetic variants predictive of paliperidone efficacy. METHODS: We leveraged a collection of 1390 samples from individuals of European ancestry enrolled in 12 clinical studies investigating the efficacy of the extended-release tablet paliperidone ER (n1=490) and the once-monthly injection paliperidone palmitate (n2=550 and n3=350)...
January 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27787353/modelling-of-atorvastatin-pharmacokinetics-and-the-identification-of-the-effect-of-a-bcrp-polymorphism-in-the-japanese-population
#14
Nikolaos Tsamandouras, Yingying Guo, Thierry Wendling, Stephen Hall, Aleksandra Galetin, Leon Aarons
AIM: Ethnicity plays a modulating role in atorvastatin pharmacokinetics (PK), with Asian patients reported to have higher exposure compared with Caucasians. Therefore, it is difficult to safely extrapolate atorvastatin PK data and models across ethnic groups. This work aims to develop a population PK model for atorvastatin and its pharmacologically active metabolites specifically for the Japanese population. Subsequently, it aimed to identify genetic polymorphisms affecting atorvastatin PK in this population...
January 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27779571/concordance-between-actual-and-pharmacogenetic-predicted-desvenlafaxine-dose-needed-to-achieve-remission-in-major-depressive-disorder-a-10-week-open-label-study
#15
Chad A Bousman, Daniel J Müller, Chee H Ng, Keith Byron, Michael Berk, Ajeet B Singh
BACKGROUND: Pharmacogenetic-based dosing support tools have been developed to personalize antidepressant-prescribing practice. However, the clinical validity of these tools has not been adequately tested, particularly for specific antidepressants. OBJECTIVE: To examine the concordance between the actual dose and a polygene pharmacogenetic predicted dose of desvenlafaxine needed to achieve symptom remission. MATERIALS AND METHODS: A 10-week, open-label, prospective trial of desvenlafaxine among Caucasian adults with major depressive disorder (n=119) was conducted...
January 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27779570/the-influence-of-living-donor-shroom3-and-abcb1-genetic-variants-on-renal-function-after-kidney-transplantation
#16
Lin Yan, Yi Li, Jiang-Tao Tang, Yun-Fei An, Li-Mei Luo, Bo Dai, Yun-Ying Shi, Lan-Lan Wang
OBJECTIVE: A genome-wide association study has identified several gene polymorphisms associated with loss of renal function. The effect of these variants on renal function in kidney transplant recipients receiving immunosuppressive treatment is unknown. MATERIALS AND METHODS: A cohort of 189 kidney transplant recipients and their living donors were recruited from West China Hospital of Sichuan University, on whom we assessed the association of five single nucleotide polymorphisms with renal function after kidney transplantation...
January 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27636560/pharmgkb-summary-ivacaftor-pathway-pharmacokinetics-pharmacodynamics
#17
Alison E Fohner, Ellen M McDonagh, John P Clancy, Michelle Whirl Carrillo, Russ B Altman, Teri E Klein
No abstract text is available yet for this article.
January 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27749787/genetic-variations-associated-with-gemcitabine-treatment-outcome-in-pancreatic-cancer
#18
Liang Li, Jian-Wei Zhang, Gregory Jenkins, Fang Xie, Erin E Carlson, Brooke L Fridley, William R Bamlet, Gloria M Petersen, Robert R McWilliams, Liewei Wang
BACKGROUND: Pancreatic cancer is a rapidly fatal disease with gemcitabine remaining the first-line therapy. We performed a genotype-phenotype association study to identify biomarkers for predicting gemcitabine treatment outcome. MATERIALS AND METHODS: We selected the top 200 single nucleotide polymorphisms (SNPs) identified from our previous genome-wide association study to associate with overall survival using 400 patients treated with/or without gemcitabine, followed by imputation analysis for regions around the identified SNPs and a replication study using an additional 537 patients by the TaqMan genotyping assay...
December 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27654872/pharmgkb-summary-very-important-pharmacogene-information-for-mt-rnr1
#19
Julia M Barbarino, Tracy L McGregor, Russ B Altman, Teri E Klein
No abstract text is available yet for this article.
December 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27660918/pharmacogenetic-study-focused-on-fluoxetine-pharmacodynamics-in-children-and-adolescent-patients-impact-of-the-serotonin-pathway
#20
Sergi Mas, Ana Blázquez, Natalia Rodríguez, Daniel Boloc, Amalia Lafuente, Joan A Arnaiz, Luisa Lázaro, Patricia Gassó
OBJECTIVE: Pharmacogenetic studies of fluoxetine in children and adolescents are scarce. After reporting the effect of genetic variants in genes related to the fluoxetine pharmacokinetics on clinical response in a pediatric population, we now evaluate the impact of genetic markers involved in its pharmacodynamics. PATIENTS AND METHODS: The assessment was performed in 83 patients after 12 weeks of fluoxetine treatment. The genetic association analysis included a total of 316 validated single nucleotide polymorphisms in 45 candidate genes involved in six different pathways...
November 2016: Pharmacogenetics and Genomics
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