journal
MENU ▼
Read by QxMD icon Read
search

Pharmacogenetics and Genomics

journal
https://www.readbyqxmd.com/read/28430711/evaluation-of-kdr-rs34231037-as-a-predictor-of-sunitinib-efficacy-in-patients-with-metastatic-renal-cell-carcinoma
#1
María Apellániz-Ruiz, Meta H Diekstra, Juan M Roldán, Epie Boven, Daniel Castellano, Hans Gelderblom, Ron H J Mathijssen, Jesse J Swen, Stefan Böhringer, Jesús García-Donás, Brian I Rini, Henk-Jan Guchelaar, Cristina Rodríguez-Antona
The identification of biomarkers able to predict clinical benefit from vascular endothelial growth factor receptor (VEGFR) tyrosine kinase inhibitors is urgently needed. Recently, Maitland and colleagues described an association between KDR-rs34231037 and soluble VEGFR2 levels as well as pazopanib pharmacodynamics. We investigated in a well-characterized series of metastatic clear cell renal cell carcinoma patients whether rs34231037 could influence sunitinib response. Clinical data and DNA were available from an international series of 276 patients...
April 20, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28430710/angiotensin-converting-enzyme-insertion-deletion-gene-polymorphism-and-interferon-%C3%AE-treatment-response-in-multiple-sclerosis-patients-a-preliminary-report
#2
Smiljana Ristić, Nada Starčević Čizmarević, Polona Lavtar, Luca Lovrečić, Olivio Perković, Juraj Sepčić, Saša Šega Jazbec, Miljenko Kapović, Borut Peterlin
We investigated the effect of the functional insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme (ACE) gene on the response to interferon-β (IFN-β) therapy in Croatian and Slovenian patients with multiple sclerosis (MS). A total of 275 IFN-β treated MS patients [162 responders (Rs) and 113 nonresponders (NRs)] were genotyped by PCR. The ACE I/D genotype distribution and allele frequencies did not differ between female Rs and NRs. However, male NRs tended to have a greater prevalence of the DD genotype (P=0...
April 20, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28383355/influence-of-cyp2c8-polymorphisms-on-imatinib-steady-state-trough-level-in-chronic-myeloid-leukemia-and-gastrointestinal-stromal-tumor-patients
#3
Michiel C Verboom, Loes Visser, Sander Kouwen, Jesse J Swen, Jeroen Diepstraten, Ward F Posthuma, Hans Gelderblom, Daniëlle van Lammeren, Erik B Wilms
Imatinib trough levels have been associated with its clinical effects. During chronic use of imatinib, CYP2C8 becomes an important metabolizing enzyme because of cytochrome P450 3A4 (CYP3A4) autoinhibition. Single nucleotide polymorphisms (SNPs) in CYP2C8 may affect imatinib trough levels. This study investigates the effect of common CYP2C8 polymorphisms [*1B (rs7909236), *1C (rs17110453), *3 (rs11572080 and rs10509681), and *4 (rs1058930)] on steady-state trough levels imatinib during chronic imatinib use in 43 patients with chronic myeloid leukemia or gastrointestinal stromal tumors...
April 5, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28362716/pharmgkb-summary-sorafenib-pathways
#4
Li Gong, Marilyn M Giacomini, Craig Giacomini, Michael L Maitland, Russ B Altman, Teri E Klein
No abstract text is available yet for this article.
March 30, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28306618/impact-of-the-cyp2c19-genotype-on-voriconazole-exposure-in-adults-with-invasive-fungal-infections
#5
Issam S Hamadeh, Kenneth P Klinker, Samuel J Borgert, Ashley I Richards, Wenhui Li, Naveen Mangal, John W Hiemenz, Stephan Schmidt, Taimour Y Langaee, Charles A Peloquin, Julie A Johnson, Larisa H Cavallari
OBJECTIVES: Voriconazole, a first-line agent for the treatment of invasive fungal infections (IFIs), is metabolized by CYP2C19. A significant proportion of patients fail to achieve therapeutic trough concentrations with standard weight-based voriconazole dosing, placing them at increased risk for treatment failure, which can be life threatening. We sought to test the association between the CYP2C19 genotype and subtherapeutic voriconazole concentrations in adults with IFIs. PATIENT AND METHODS: Adults receiving weight-based voriconazole dosing for the treatment of IFIs were genotyped for the CYP2C19*2, *3, and *17 polymorphisms, and CYP2C19 metabolizer phenotypes were inferred...
May 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28277331/nudt15-genotype-distributions-in-the-korean-population
#6
Hyoung-Tae Kim, Rihwa Choi, Hong-Hee Won, Yon Ho Choe, Ben Kang, Kiwuk Lee, Hong Hoe Koo, Keon Hee Yoo, Young-Ho Kim, Soo-Youn Lee
Thiopurines have a narrow therapeutic range because of frequent toxicity (i.e. marrow suppression), which is only partly explained by TPMT genetic polymorphisms, especially within Asian populations. Recent studies have identified NUDT15 variation as another important factor affecting thiopurine metabolism. In this study, a total of four NUDT15 coding variants (p.Arg139Cys, p.Arg139His, p.Val18Ile, and p.Val18_Val19insGlyVal) were genotyped in 920 Korean individuals using direct sequencing of NUDT15 for the first time in a Korean population...
May 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28277330/pharmgkb-summary-voriconazole-pathway-pharmacokinetics
#7
Julia M Barbarino, Aniwaa Owusu Obeng, Teri E Klein, Russ B Altman
No abstract text is available yet for this article.
May 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28267054/assessment-of-patient-perceptions-of-genomic-testing-to-inform-pharmacogenomic-implementation
#8
Yee Ming Lee, Ryan P McKillip, Brittany A Borden, Catherine E Klammer, Mark J Ratain, Peter H O'Donnell
OBJECTIVE: Pharmacogenomics seeks to improve prescribing by reducing drug inefficacy/toxicity. However, views of patients during pharmacogenomic-guided care are largely unknown. We sought to understand the attitudes and perceptions of patients in an institutional implementation project and hypothesized that views would differ on the basis of experience with pharmacogenomic-guided care. METHODS: Two focus groups were conducted - one group included patients who had previously been subjected to broad pharmacogenomic genotyping with results available to physicians (pharmacogenomic group), whereas the other had not been offered genotyping (traditional care)...
May 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28263279/differential-effects-of-predictors-of-warfarin-dose-according-to-race-color-categories-in-the-admixed-brazilian-population
#9
Guilherme Suarez-Kurtz, Claudio J Struchiner
No abstract text is available yet for this article.
May 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
#10
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...
May 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28207573/genome-wide-analysis-of-clopidogrel-active-metabolite-levels-identifies-novel-variants-that-influence-antiplatelet-response
#11
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...
April 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
#12
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...
April 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28146011/pharmgkb-summary-macrolide-antibiotic-pathway-pharmacokinetics-pharmacodynamics
#13
Alison E Fohner, Alex Sparreboom, Russ B Altman, Teri E Klein
No abstract text is available yet for this article.
April 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
#14
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...
April 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
#15
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...
April 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
#16
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...
April 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
#17
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
#18
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
#19
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
#20
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
journal
journal
40819
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"