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Pharmacogenetics and Genomics

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https://www.readbyqxmd.com/read/29117017/race-ethnicity-difference-in-the-pharmacogenetics-of-bilirubin-related-atazanavir-discontinuation
#1
Paul Leger, Sanika Chirwa, Jacinta N Nwogu, Megan Turner, Danielle M Richardson, Paxton Baker, Michael Leonard, Husamettin Erdem, Lana Olson, David W Haas
BACKGROUND: Atazanavir causes plasma indirect bilirubin to increase. We evaluated associations between Gilbert's polymorphism and bilirubin-related atazanavir discontinuation stratified by race/ethnicity. PATIENTS AND METHODS: Patients had initiated atazanavir/ritonavir-containing regimens at an HIV primary care clinic in the southeastern USA, and had at least 12 months of follow-up data. Metabolizer group was defined by UGT1A1 rs887829 C→T. Genome-wide genotype data were used to adjust for genetic ancestry in combined population analyses...
November 6, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29099735/effect-of-pharmacogenetic-markers-of-vitamin-d-pathway-on-deferasirox-pharmacokinetics-in-children
#2
Sarah Allegra, Jessica Cusato, Silvia De Francia, Filomena Longo, Elisa Pirro, Davide Massano, Antonio Piga, Antonio D'Avolio
OBJECTIVES: Patients with β-thalassemia major have extremely low vitamin D levels, owing to reduced intestinal absorption, subicteric tint, and/or iron-induced higher pigmentation. We investigated whether some polymorphisms within the VDR, CYP24A1, CYP27B1, and GC genes could play a role in deferasirox pharmacokinetics in a cohort of pediatric patients. PATIENTS AND METHODS: Eighteen children with β-thalassemia were enrolled. Drug plasma concentrations at the end of dosing interval (Ctrough) and after 0, 2, 4, 6, and 24 h of drug administration were measured by a HPLC-UV method...
November 2, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29087970/gene-gene-interaction-between-drd4-and-comt-modulates-clinical-response-to-clozapine-in-treatment-resistant-schizophrenia
#3
Veera M Rajagopal, Anto P Rajkumar, Kuruthukulangara S Jacob, Molly Jacob
Clozapine is the drug of choice for treatment-resistant schizophrenia. However, its use is associated with variable clinical responses and serious adverse effects. Polymorphisms in genes encoding proteins involved in synaptic neurotransmission may account for such variability. Here, we studied independent and epistatic genetic associations of polymorphisms in DRD4 (120-bp duplication) and COMT (Val158Met) with clinical response to clozapine in people with treatment-resistant schizophrenia. We studied 93 participants who were on stable doses of clozapine for at least 12 weeks...
October 27, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28961156/exome-array-analysis-identifies-gpr35-as-a-novel-susceptibility-gene-for-anthracycline-induced-cardiotoxicity-in-childhood-cancer
#4
Sara Ruiz-Pinto, Guillermo Pita, Ana Patiño-García, Javier Alonso, Antonio Pérez-Martínez, Antonio J Cartón, Federico Gutiérrez-Larraya, María R Alonso, Daniel R Barnes, Joe Dennis, Kyriaki Michailidou, Carmen Gómez-Santos, Deborah J Thompson, Douglas F Easton, Javier Benítez, Anna González-Neira
OBJECTIVES: Pediatric cancer survivors are a steadily growing population; however, chronic anthracycline-induced cardiotoxicity (AIC) is a serious long-term complication leading to considerable morbidity. We aimed to identify new genes and low-frequency variants influencing the susceptibility to AIC for pediatric cancer patients. PATIENTS AND METHODS: We studied the association of variants on the Illumina HumanExome BeadChip array in 83 anthracycline-treated pediatric cancer patients...
September 27, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28945215/influence-of-polygenic-risk-scores-on-lipid-levels-and-dyslipidemia-in-a-psychiatric-population-receiving-weight-gain-inducing-psychotropic-drugs
#5
Aurélie Delacrétaz, Patricia Lagares Santos, Nuria Saigi Morgui, Frederik Vandenberghe, Anaïs Glatard, Mehdi Gholam-Rezaee, Armin von Gunten, Philippe Conus, Chin B Eap
OBJECTIVES: Dyslipidemia represents a major health issue in psychiatry. We determined whether weighted polygenic risk scores (wPRSs) combining multiple single-nucleotide polymorphisms (SNPs) associated with lipid levels in the general population are associated with lipid levels [high-density lipoprotein (HDL), low-density lipoprotein (LDL), total cholesterol (TC), and triglycerides] and/or dyslipidemia in patients receiving weight gain-inducing psychotropic drugs. We also determined whether genetics improve the predictive power of dyslipidemia...
September 21, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28930110/cytokine-single-nucleotide-polymorphisms-and-risk-of-non-small-cell-lung-cancer
#6
Cristina Pérez-Ramírez, Ahmed Alnatsha, Marisa Cañadas-Garre, Eduardo Villar, Javier Valdivia-Bautista, María J Faus-Dáder, Miguel Á Calleja-Hernández
OBJECTIVE: Lung cancer, particularly the non-small-cell lung cancer (NSCLC) subtype, is the leading cause of cancer-related death worldwide. Several functional polymorphisms in inflammatory cytokine genes, such as IL1B, IL6, IL12A, IL13 and IL16, have been associated with the risk of NSCLC. The aim of this study was to evaluate the association between ILs gene polymorphisms and the risk of developing NSCLC. PARTICIPANTS AND METHODS: A retrospective case-control study was carried out, including 174 NSCLC cases and 298 controls of Spanish origin...
September 18, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28885988/dapsone-induced-severe-cutaneous-adverse-drug-reactions-are-strongly-linked-with-hla-b-13-01-allele-in-the-thai-population
#7
Therdpong Tempark, Patompong Satapornpong, Pawinee Rerknimitr, Nontaya Nakkam, Niwat Saksit, Penpun Wattanakrai, Thawinee Jantararoungtong, Napatrupron Koomdee, Ajanee Mahakkanukrauh, Wichittra Tassaneeyakul, Sumitra Suttisai, Jirawat Pratoomwun, Jettanong Klaewsongkram, Ticha Rerkpattanapipat, Chonlaphat Sukasem
OBJECTIVES: A previous publication in Chinese leprosy patients showed that the HLA-B*13:01 allele is a strong genetic marker for dapsone-induced drug hypersensitivity reactions, however there are no data describing whether HLA-B*13:01 is a valid marker for prediction of dapsone-induced drug hypersensitivity reactions in other ethnicities or nonleprosy patients. The aim of this study is to investigate whether there is an association between HLA genotypes and dapsone-induced severe cutaneous adverse reactions (SCARs) in nonleprosy patients...
September 6, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28930109/abcg2-regulatory-single-nucleotide-polymorphisms-alter-in-vivo-enhancer-activity-and-expression
#8
Rachel J Eclov, Mee J Kim, Aparna Chhibber, Robin P Smith, Nadav Ahituv, Deanna L Kroetz
OBJECTIVES: The expression and activity of the breast cancer resistance protein (ABCG2) contributes toward the pharmacokinetics of endogenous and xenobiotic substrates. The effect of genetic variation on the activity of cis-regulatory elements and nuclear response elements in the ABCG2 locus and their contribution toward ABCG2 expression have not been investigated systematically. In this study, the effect of genetic variation on the in vitro and in vivo enhancer activity of six previously identified liver enhancers in the ABCG2 locus was examined...
December 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28877533/comprehensive-assessment-of-cytochromes-p450-and-transporter-genetics-with-endoxifen-concentration-during-tamoxifen-treatment
#9
Lauren A Marcath, Allison M Deal, Emily Van Wieren, William Danko, Christine M Walko, Joseph G Ibrahim, Karen E Weck, David R Jones, Zeruesenay Desta, Howard L McLeod, Lisa A Carey, William J Irvin, Daniel L Hertz
OBJECTIVES: Tamoxifen bioactivation to endoxifen is mediated primarily by CYP2D6; however, considerable variability remains unexplained. Our aim was to perform a comprehensive assessment of the effect of genetic variation in tamoxifen-relevant enzymes and transporters on steady-state endoxifen concentrations. PATIENTS AND METHODS: Comprehensive genotyping of CYP enzymes and transporters was performed using the iPLEX ADME PGx Pro Panel in 302 tamoxifen-treated breast cancer patients...
November 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28873070/functional-assessment-of-genetic-variants-located-in-the-promoter-of-shp1-nr0b2
#10
Katharina Prestin, Maria Olbert, Janine Hussner, Henry Völzke, Henriette E Meyer Zu Schwabedissen
Small heterodimer partner 1 (SHP1, NR0B2) is a member of the superfamily of nuclear receptors (NRs). Even if this orphan receptor, unlike other NRs, lacks the DNA-binding domain, it is capable of regulating transcription by repressing the activity of other NRs by direct protein-protein interaction. Accordingly, SHP1 is part of negative feedback loops of the transcriptional regulation of genes involved in drug metabolism and various metabolic pathways including bile acid and glucose homeostasis. Although it is known that several interacting partners of SHP1 also modulate its expression, there is little information about genetic variability of this regulatory mechanism...
November 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28858994/high-plasma-concentrations-of-dolutegravir-in-patients-with-abcg2-genetic-variants
#11
Kiyoto Tsuchiya, Tsunefusa Hayashida, Akinobu Hamada, Sakurako Oki, Shinichi Oka, Hiroyuki Gatanaga
The ATP-binding cassette transporters B1 (ABCB1) and G2 (ABCG2) are both expressed in the intestine and known as efflux transporters of drugs. Dolutegravir was identified recently as a substrate of both ABCB1 and ABCG2. This study aimed to determine the relations between single-nucleotide polymorphisms of ABCB1 and ABCG2 genes and plasma dolutegravir concentrations. Plasma samples were obtained from 42 HIV-1-infected patients treated with dolutegravir-containing regimens 0.5-4 h after dolutegravir dosing...
November 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28858993/pharmgkb-summary-very-important-pharmacogene-information-for-abcg2
#12
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/28858992/the-genotypes-and-methylation-of-mao-genes-as-factors-behind-smoking-behavior
#13
Emmi M Tiili, Natalia V Mitiushkina, Olga A Sukhovskaya, Evgeny N Imyanitov, Ari P Hirvonen
OBJECTIVE: Smoking dependence is the main cause for tobacco-related illnesses. The addiction-causing substance in tobacco, nicotine, acts through the dopamine pathway in the brain, causing several pleasurable experiences through cigarette smoking. Thus, both genetic and epigenetic factors related to dopamine metabolism may play an important role in influencing an individual's smoking behavior. MATERIALS AND METHODS: We studied the 1460 C/T variation and the variable number tandem repeat polymorphism in the MAOA gene and A/G variation in intron 13 in the MAOB gene together with four DNA methylation sites in both of these genes in relation to several smoking-related phenotypes in a study population of 1230 Whites of Russian origin...
November 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28777243/systematic-evaluation-of-commercial-pharmacogenetic-testing-in-psychiatry-a-focus-on-cyp2d6-and-cyp2c19-allele-coverage-and-results-reporting
#14
Chad A Bousman, Philip Jaksa, Christos Pantelis
OBJECTIVE: The aim of this study was to systematically assess commercial pharmacogenetic tests relevant to prescribing in psychiatry, with specific attention on CYP2D6 and CYP2C19 star allele coverage as well as compliance with consensus recommendations for pharmacogenetic test result reporting. MATERIALS AND METHODS: The CYP2D6 and CY2C19 star (*) allele contents of 20 pharmacogenetic test panels were compared and their test results reports were evaluated on the basis of consensus reporting recommendations published by The Centers for Disease Control and Prevention as well as the Clinical Pharmacogenetics Implementation Consortium...
November 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28806200/quality-of-anticoagulation-control-and-hemorrhage-risk-among-african-american-and-european-american-warfarin-users
#15
Nita A Limdi, Todd M Brown, Aditi Shendre, Nianjun Liu, Charles E Hill, Timothy M Beasley
OBJECTIVE: We evaluated whether percent time in target range (PTTR), risk of over-anticoagulation [international normalized ratio (INR)>4], and risk of hemorrhage differ by race. As PTTR is a strong predictor of hemorrhage risk, we also determined the influence of PTTR on the risk of hemorrhage by race. PARTICIPANTS AND METHODS: Among 1326 warfarin users, PTTR was calculated as the percentage of interpolated INR values within the target range of 2.0-3.0. PTTR was also categorized as poor (PTTR<60%), good (60≤PTTR<70%), or excellent (PTTR≥70%) anticoagulation control...
October 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28799976/effect-of-gene-gene-and-gene-environment-interactions-associated-with-antituberculosis-drug-induced-hepatotoxicity
#16
Julián G Chamorro, Jorge P Castagnino, Omar Aidar, Rosa M Musella, Ana Frías, Mabel Visca, Mabel Nogueras, Lucas Costa, Alessandro Perez, Fabio Caradonna, Gabriela F de Larrañaga
OBJECTIVES: This study evaluated the association between environmental factors and genetic variations in enzymes that metabolize antituberculosis (anti-TB) drugs [arylamine N-acetyltransferase 2, cytochrome P450 2E1 (CYP2E1), glutathione S-transferase theta 1 (GSTT1), and glutathione S-transferase mu 1] with antituberculosis drug-induced hepatotoxicity (ATDH). We also investigated the potential gene-gene and gene-environment interactions as well as their association with ATDH development in a population of hospitalized TB patients from Buenos Aires...
October 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28777242/analysis-of-common-polymorphisms-within-nr1i2-and-nr1i3-genes-and-tacrolimus-dose-adjusted-concentration-in-stable-kidney-transplant-recipients
#17
Mateusz Kurzawski, Damian Malinowski, Krzysztof Dziewanowski, Marek Droździk
OBJECTIVES: Several genetic factors were identified to be responsible for interidividual variability in tacrolimus (TAC) pharmacokinetics, with the predominant role of CYP3A5 and CYP3A4 polymorphisms. In this study, genetic variants of NR1I2 and NR1I3 nuclear receptors (responsible for the regulation of drug-metabolizing enzymes and transporters at the transcriptional level) were evaluated for their potential association with altered TAC concentrations. MATERIALS AND METHODS: Two hundred and forty White kidney transplant patients were genotyped for five single-nucleotide polymorphisms (rs3814055, rs6785049, rs2276707, rs2307424, and rs2307418) in NR1I2 and NR1I3 genes...
October 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28763429/genome-wide-association-study-of-cardiotoxicity-in-the-ncctg-n9831-alliance-adjuvant-trastuzumab-trial
#18
Daniel J Serie, Julia E Crook, Brian M Necela, Travis J Dockter, Xue Wang, Yan W Asmann, DeLisa Fairweather, Katelyn A Bruno, Gerardo Colon-Otero, Edith A Perez, E Aubrey Thompson, Nadine Norton
OBJECTIVES: The major clinical side effect of the ERBB2-targeted breast cancer therapy, trastuzumab, is a decline in the left ventricular ejection fraction (LVEF). Improved markers are needed to better identify patients susceptible to cardiotoxicity. METHODS: The NCCTG N9831 trial compared adjuvant doxorubicin and cyclophosphamide followed by either weekly paclitaxel (arm A); paclitaxel then trastuzumab (arm B); or concurrent paclitaxel and trastuzumab (arm C) in patients with HER2-positive breast cancer...
October 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28727628/replication-confirms-the-association-of-loci-in-foxe1-pde8b-capzb-and-pde10a-with-thyroid-traits-a-genetics-of-diabetes-audit-and-research-tayside-study-godarts
#19
Enrique Soto-Pedre, Moneeza K Siddiqui, Alex S Doney, Colin N A Palmer, Ewan R Pearson, Graham P Leese
OBJECTIVE: Replication of associations in genome-wide association studies is desirable to ensure that such signals are potentially clinically meaningful. This study aimed to replicate associations of selected single-nucleotide polymorphisms (SNPs) with hypothyroidism and serum thyroid-stimulating hormone (TSH) using electronic medical records (EMRs). PATIENTS AND METHODS: A cross-sectional study was carried out among patients of European Caucasian ethnicity from the Genetics of Diabetes Audit and Research Tayside recruited in Tayside (Scotland, UK)...
October 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28731962/polymorphisms-in-cytochrome-p450-oxidoreductase-and-its-effect-on-drug-metabolism-and-efficacy
#20
Liang Gong, Cong-Min Zhang, Jin-Feng Lv, Hong-Hao Zhou, Lan Fan
Cytochrome P450 oxidoreductase (POR) has played a potential role in the metabolism of drugs and steroids by supplying electrons to microsomal cytochrome P450 (CYP) enzymes. More than 200 different POR mutations and polymorphisms causing more than 130 amino acid changes in the POR protein have been reported since 2004. A503V is a common amino acid sequence variant encoded by POR*28, whereas A287P and R457H are the most common disease-causing mutations in Europeans and Asians, respectively. Polymorphisms in the POR gene can affect POR activity, CYP-mediated drug metabolism activities, and the efficacy of several clinically used drugs...
September 2017: Pharmacogenetics and Genomics
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