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Pharmacogenetics and Genomics

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https://www.readbyqxmd.com/read/28207573/genome-wide-analysis-of-clopidogrel-active-metabolite-levels-identifies-novel-variants-that-influence-antiplatelet-response
#1
Joshua D Backman, Jeffrey R O'Connell, Keith Tanner, Cody J Peer, William D Figg, Shawn D Spencer, Braxton D Mitchell, Alan R Shuldiner, Laura M Yerges-Armstrong, Richard B Horenstein, Joshua P Lewis
Clopidogrel is one of the most commonly used therapeutics for the secondary prevention of cardiovascular events in patients with acute coronary syndromes. However, considerable interindividual variation in clopidogrel response has been documented, resulting in suboptimal therapy and an increased risk of recurrent events for some patients. In this investigation, we carried out the first genome-wide association study of circulating clopidogrel active metabolite levels in 513 healthy participants to directly measure clopidogrel pharmacokinetics...
February 15, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28181923/variation-in-cyp2a6-and-nicotine-metabolism-among-two-american-indian-tribal-groups-differing-in-smoking-patterns-and-risk-for-tobacco-related-cancer
#2
Julie-Anne Tanner, Jeffrey A Henderson, Dedra Buchwald, Barbara V Howard, Patricia Nez Henderson, Rachel F Tyndale
OBJECTIVE: The Northern Plains (NP) and Southwest (SW) American Indian populations differ in their smoking patterns and lung cancer incidence. We aimed to compare CYP2A6 genetic variation and CYP2A6 enzyme activity (representative of the rate of nicotine metabolism) between the two tribal populations as these have previously been associated with differences in smoking, quitting, and lung cancer risk. PARTICIPANTS AND METHODS: American Indians (N=636) were recruited from two different tribal populations (NP in South Dakota, SW in Arizona) as part of a study carried out as part of the Collaborative to Improve Native Cancer Outcomes P50 Project...
February 8, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28178031/effect-of-ugt2b10-ugt2b17-fmo3-and-oct2-genetic-variation-on-nicotine-and-cotinine-pharmacokinetics-and-smoking-in-african-americans
#3
Taraneh Taghavi, Gideon St Helen, Neal L Benowitz, Rachel F Tyndale
OBJECTIVES: Nicotine metabolism rates differ considerably among individuals, even after controlling for variation in the major nicotine-metabolizing enzyme, CYP2A6. In this study, the impact of genetic variation in alternative metabolic enzymes and transporters on nicotine and cotinine (COT) pharmacokinetics and smoking was investigated. METHODS: We examined the impact of UGT2B10, UGT2B17, FMO3, NAT1, and OCT2 variation on pharmacokinetics and smoking (total nicotine equivalents and topography) before and after stratifying by CYP2A6 genotype in 60 African American (AA) smokers who received a simultaneous intravenous infusion of deuterium-labeled nicotine and COT...
February 7, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28146011/pharmgkb-summary-macrolide-antibiotic-pathway-pharmacokinetics-pharmacodynamics
#4
Alison E Fohner, Alex Sparreboom, Russ B Altman, Teri E Klein
No abstract text is available yet for this article.
January 31, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28146010/novel-procedure-with-improved-resolution-and-specificity-for-amplification-and-differentiation-of-variants-of-the-gene-encoding-carboxylesterase-1
#5
Ditte Bjerre, Henrik B Rasmussen
Carboxylesterase 1 (CES1) is implicated in the metabolism of several commonly used drugs and other xenobiotics. The gene encoding this enzyme, CES1, is duplicated in some individuals. The original gene copy is called CES1A1. The duplicated version, CES1A2, is a hybrid of CES1A1 and the CES1-related pseudogene, CES1P1. Variants of CES1A2 with a weak and a strong promoter, respectively, have been reported. In addition, there are chimeric subtypes of CES1A1 that contain a segment of CES1P1. Collectively, this represents challenges to the genotyping of CES1 that previous procedures have had difficulties in solving, frequently leading to loss of specificity and inaccurate genotyping...
January 31, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28134748/influence-of-common-polymorphisms-in-the-slc5a2-gene-on-metabolic-traits-in-subjects-at-increased-risk-of-diabetes-and-on-response-to-empagliflozin-treatment-in-patients-with-diabetes
#6
Heike Zimdahl, Axel Haupt, Michael Brendel, Louis Bour, Fausto Machicao, Afshin Salsali, Uli C Broedl, Hans-Juergen Woerle, Hans-Ulrich Häring, Harald Staiger
OBJECTIVE: Inhibition of the renal sodium-glucose cotransporter 2 (SGLT2) is a novel concept in the therapy of diabetes mellitus. In this study, we first assessed whether common single nucleotide polymorphisms (SNPs) in the SGLT2-encoding gene SLC5A2 affect diabetes-related metabolic traits in subjects at risk for type 2 diabetes and, second, whether these have pharmacogenetic relevance by interfering with the response to empagliflozin treatment in patients with type 2 diabetes. PATIENTS AND METHODS: Samples from a metabolically well-phenotyped cross-sectional study population (total N=2600) at increased risk for type 2 diabetes and pooled pharmacogenetic samples from patients from four phase III trials of empagliflozin (in total: 603 receiving empagliflozin, 305 receiving placebo) were genotyped for five common SNPs (minor allele frequencies ≥5%) present in the SLC5A2 gene locus...
January 27, 2017: Pharmacogenetics and Genomics
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
#7
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/27977511/rituximab-response-in-follicular-lymphoma-is-associated-with-the-rs20575-polymorphism-in-trailr1-extrinsic-apoptosis-trigger
#8
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
#9
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/27922550/a-novel-abcc6-haplotype-is-associated-with-azathioprine-drug-response-in-myasthenia-gravis
#10
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/28099408/multiphenotype-association-study-of-patients-randomized-to-initiate-antiretroviral-regimens-in-aids-clinical-trials-group-protocol-a5202
#11
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...
March 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
#12
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...
March 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
#13
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 H 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...
March 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27984508/characterization-of-adme-gene-variation-in-21-populations-by-exome-sequencing
#14
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...
March 2017: 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
#15
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...
March 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28059981/hla-b-57
#16
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
#17
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
#18
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
#19
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
#20
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
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