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Pharmacogenetics and Genomics

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https://www.readbyqxmd.com/read/28731962/polymorphisms-in-cytochrome-p450-oxidoreductase-and-its-effect-on-drug-metabolism-and-efficacy
#1
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...
July 20, 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
#2
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)...
July 19, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28704257/the-combination-of-cyp3a4-22-and-cyp3a5-3-single-nucleotide-polymorphisms-determines-tacrolimus-dose-requirement-after-kidney-transplantation
#3
Nuria Lloberas, Laure Elens, Ines Llaudó, Ariadna Padullés, Teun van Gelder, Dennis A Hesselink, Helena Colom, Franc Andreu, Joan Torras, Oriol Bestard, Josep M Cruzado, Salvador Gil-Vernet, Ron van Schaik, Josep M Grinyó
INTRODUCTION: Tacrolimus (Tac) has a narrow therapeutic window and shows large between-patient pharmacokinetic variability. As a result, over-immunosuppression and under-immunosuppression are frequently encountered in daily clinical practice. Unraveling the impact of genetic polymorphisms on Tac pharmacokinetics may help to refine therapy. In this study, the associations of single-nucleotide polymorphisms (SNPs) in drug-metabolizing enzymes (CYP3A) with Tac pharmacokinetics were investigated in renal transplant recipients...
July 12, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28692628/genetic-determinants-of-impaired-awareness-of-hypoglycemia-in-type-1-diabetes
#4
Bas J Schouwenberg, Marieke J Coenen, Andrew D Paterson, Cees J Tack, Paul Smits, Cornelis Kramers, Bastiaan E de Galan
OBJECTIVE: It is likely that impaired awareness of hypoglycemia (IAH) and severe hypoglycemia are in part determined by genetic factors. The aim of this study was to investigate candidate genes for associations with IAH and severe hypoglycemia in a cohort of patients with type 1 diabetes. PARTICIPANTS AND METHODS: Consecutive patients with type 1 diabetes were genotyped for single-nucleotide polymorphisms in or near the genes for the β1 and β2 adrenergic receptor (ADRB1, ADRB2), SORCS1, and BNC2, and for the insertion/deletion polymorphism in the ACE gene...
July 7, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28678049/impact-of-abcb1-abcg2-and-cyp3a5-polymorphisms-on-plasma-trough-concentrations-of-apixaban-in-japanese-patients-with-atrial-fibrillation
#5
Satoshi Ueshima, Daiki Hira, Ryo Fujii, Yuuma Kimura, Chiho Tomitsuka, Takuya Yamane, Yohei Tabuchi, Tomoya Ozawa, Hideki Itoh, Minoru Horie, Tomohiro Terada, Toshiya Katsura
OBJECTIVES: During anticoagulant therapy, major bleeding is one of the most severe adverse effects. This study aimed to evaluate the relationships between ABCB1, ABCG2, and CYP3A5 polymorphisms and plasma trough concentrations of apixaban, a direct inhibitor of coagulation factor X. PATIENTS AND METHODS: A total of 70 plasma concentrations of apixaban from 44 Japanese patients with atrial fibrillation were analyzed. In these analyses, the plasma trough concentration/dose (C/D) ratio of apixaban was used as a pharmacokinetic index and all data were stratified according to the presence of ABCB1 (ABCB1 1236C>T, 2677G>T/A, and 3435C>T), ABCG2 (ABCG2 421C>A), and CYP3A5 (CYP3A5*3) polymorphisms...
July 3, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28628560/genetic-coding-variants-in-the-niacin-receptor-hydroxyl-carboxylic-acid-receptor-2-and-response-to-niacin-therapy
#6
Sony Tuteja, Lu Wang, Richard L Dunbar, Jinbo Chen, Stephanie DerOhannessian, Santica M Marcovina, Marshall Elam, Ellis Lader, Daniel J Rader
OBJECTIVE: Niacin has been used for seven decades to modulate plasma lipids, but its mechanism of action is still unclear. We sought to determine whether variants in the niacin receptor gene, hydroxyl-carboxylic receptor 2 (HCAR2), are associated with lipid response to treatment. PARTICIPANTS AND METHODS: Coding variants, rs7314976 (p.R311C) and rs2454727 (p.M317I), were genotyped in 2067 participants from the Atherothrombosis Intervention in Metabolic Syndrome with Low HDL/High Triglycerides and Impact on Global Health Outcomes (AIM-HIGH) trial...
June 16, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28628559/the-mir-1206-microrna-variant-is-associated-with-methotrexate-induced-oral-mucositis-in-pediatric-acute-lymphoblastic-leukemia
#7
Angela Gutierrez-Camino, Natanja Oosterom, Marissa A H den Hoed, Elixabet Lopez-Lopez, Idoia Martin-Guerrero, Saskia M F Pluijm, Rob Pieters, Robert de Jonge, Wim J E Tissing, Sandra G Heil, Africa García-Orad, Marry M van den Heuvel-Eibrink
Five-year survival rates of pediatric acute lymphoblastic leukemia (ALL) have reached 90% in the developed countries. However, toxicity because of methotrexate (MTX) occurs frequently. Variety in the occurrence of toxicity is partly determined by single nucleotide polymorphisms (SNPs) in coding regions. Recently, five SNPs in non-coding pre-microRNAs and microRNA processing (miRNA) genes were identified in association with MTX-induced oral mucositis. This study aimed to replicate the association of these miRNA variants in relation to MTX-induced oral mucositis in a prospective childhood ALL cohort...
June 16, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28614176/correlation-between-cytochrome-p450-2c19-genetic-polymorphism-and-treatment-response-to-escitalopram-in-panic-disorder
#8
Qianqian He, Zhuo Yuan, Yuanyuan Liu, Jian Zhang, Hong Yan, Li Shen, Xingguang Luo, Yong Zhang
OBJECTIVES: Escitalopram (S-CT) is used widely to treat patients with panic disorder (PD) and the CYP2C19 enzyme is responsible for S-CT metabolism. We hypothesized that CYP2C19 polymorphisms were associated with S-CT treatment response in Chinese patients with PD. PATIENTS AND METHODS: Seventy-eight patients with PD completed the assessment by the Panic Disorder Severity Scale - Chinese Version (PDSS-CV) and the Hamilton Anxiety Scale (HAMA-14) during an 8-week period...
June 13, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28678138/pharmgkb-summary-pazopanib-pathway-pharmacokinetics
#9
Caroline F Thorn, Manish R Sharma, Russ B Altman, Teri E Klein
No abstract text is available yet for this article.
August 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28628558/genetics-of-pleiotropic-effects-of-dexamethasone
#10
Laura B Ramsey, Stan Pounds, Cheng Cheng, Xueyuan Cao, Wenjian Yang, Colton Smith, Seth E Karol, Chengcheng Liu, John C Panetta, Hiroto Inaba, Jeffrey E Rubnitz, Monika L Metzger, Raul C Ribeiro, John T Sandlund, Sima Jeha, Ching-Hon Pui, William E Evans, Mary V Relling
OBJECTIVES: Glucocorticoids such as dexamethasone have pleiotropic effects, including desired antileukemic, anti-inflammatory, or immunosuppressive effects, and undesired metabolic or toxic effects. The most serious adverse effects of dexamethasone among patients with acute lymphoblastic leukemia are osteonecrosis and thrombosis. To identify inherited genomic variation involved in these severe adverse effects, we carried out genome-wide association studies (GWAS) by analyzing 14 pleiotropic glucocorticoid phenotypes in 391 patients with acute lymphoblastic leukemia...
August 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28570300/impact-of-novel-polymorphisms-related-to-cytotoxicity-of-cytarabine-in-the-induction-treatment-of-acute-myeloid-leukemia
#11
Juan E Megías-Vericat, Pau Montesinos, María J Herrero, Federico Moscardó, Virginia Bosó, David Martínez-Cuadrón, José L Poveda, Miguel Á Sanz, Salvador F Aliño
Several novel single nucleotide polymorphisms (SNPs) involved in cytarabine cytotoxicity and related to clinical outcomes have been reported recently in a series of 232 pediatric patients with acute myeloid leukemia (AML). We report the first adult AML cohort in which the influence of these SNPs in cytarabine efficacy and toxicity was analyzed. Six of polymorphisms with clinical significance in the previous study [rs12036333, rs10758713, rs9883101, rs6550826, IRX2: rs2897047, mutated in colorectal cancers (MCC): rs7729269] were analyzed in a cohort of 225 adult patients at initial diagnosis of AML treated with an induction scheme of idarubicin plus cytarabine...
July 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28570299/hla-a-31-01-and-hla-b-15-02-association-with-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis-to-carbamazepine-in-a-multiethnic-malaysian-population
#12
Amy Hui-Ping Khor, Kheng-Seang Lim, Chong-Tin Tan, Zhenli Kwan, Wooi-Chiang Tan, David Bin-Chia Wu, Ching-Ching Ng
The majority of the carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis CBZ-SJS/TEN are associated with HLA-B*15:02 in Asian populations where this allele is common. In contrast, the association with HLA-A*31:01 is only reported in Japanese and Europeans. This study aimed to further investigate the association with HLA-A*31:01 besides HLA-B*15:02 in a multiethnic Malaysian population. Twenty-eight CBZ-SJS/TEN cases and 227 CBZ-tolerant controls were recruited. Association was tested by comparing carrier frequencies of the alleles between cases and controls...
July 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28562428/single-nucleotide-variant-in-nucleoporin-107-may-be-predictive-of-sensitivity-to-chemotherapy-in-patients-with-ovarian-cancer
#13
Shaheen Alanee, Kristin Delfino, Andrew Wilber, Kathy Robinson, Laurent Brard, Assaad Semaan
BACKGROUND: Alterations in nuclear pore complex (NPC) genes have been previously associated with response to chemotherapy. Using agnostic exome sequencing, we envisioned that new alleles in NPC genes, predictive of sensitivity to platinum treatment, could be discovered. METHODS: Twenty-two platinum-sensitive and six platinum-resistant ovarian cancer patients were tested. Platinum sensitivity was defined as disease-free survival greater than 6 months. Next-generation sequencing of exomes was used to compare platinum-sensitive and platinum-resistant patients...
July 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28542097/genome-wide-association-and-pathway-analysis-of-left-ventricular-function-after-anthracycline-exposure-in-adults
#14
Quinn S Wells, Olivia J Veatch, Joshua P Fessel, Aron Y Joon, Rebecca T Levinson, Jonathan D Mosley, Elizabeth P Held, Chase S Lindsay, Christian M Shaffer, Peter E Weeke, Andrew M Glazer, Kevin R Bersell, Sara L Van Driest, Jason H Karnes, Marcia A Blair, Lore W Lagrone, Yan R Su, Erica A Bowton, Ziding Feng, Bonnie Ky, Daniel J Lenihan, Michael J Fisch, Joshua C Denny, Dan M Roden
BACKGROUND: Anthracyclines are important chemotherapeutic agents, but their use is limited by cardiotoxicity. Candidate gene and genome-wide studies have identified putative risk loci for overt cardiotoxicity and heart failure, but there has been no comprehensive assessment of genomic variation influencing the intermediate phenotype of anthracycline-related changes in left ventricular (LV) function. The purpose of this study was to identify genetic factors influencing changes in LV function after anthracycline chemotherapy...
July 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28509689/risk-factors-of-allopurinol-induced-severe-cutaneous-adverse-reactions-in-a-thai-population
#15
Niwat Saksit, Wichittra Tassaneeyakul, Nontaya Nakkam, Parinya Konyoung, Usanee Khunarkornsiri, Pansu Chumworathayi, Chonlaphat Sukasem, Sumitra Suttisai, Napacha Piriyachananusorn, Pawinee Tiwong, Nathorn Chaiyakunapruk, Kittisak Sawanyawisuth, Ticha Rerkpattanapipat, Wongwiwat Tassaneeyakul
BACKGROUND: Allopurinol is one of the most common causes of severe cutaneous adverse drug reactions (SCARs) including drug reactions with eosinophilia and systemic symptoms (DRESS), Stevens-Johnson syndrome (SJS), and toxic epidermal necrolysis (TEN). This study identified the risk factors associated with the development of allopurinol-induced SCARs in a Thai population. PATIENTS AND METHODS: Eighty-six allopurinol-induced SCARs (i.e. 19 DRESS and 67 SJS/TEN) and 182 allopurinol-tolerant patients were enrolled in the study...
July 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28445188/tpmt-comt-and-acyp2-genetic-variants-in-paediatric-cancer-patients-with-cisplatin-induced-ototoxicity
#16
Signe Thiesen, Peng Yin, Andrea L Jorgensen, Jieying Eunice Zhang, Valentina Manzo, Laurence McEvoy, Christopher Barton, Susan Picton, Simon Bailey, Penelope Brock, Harish Vyas, David Walker, Guy Makin, Srinivas Bandi, Barry Pizer, Daniel B Hawcutt, Munir Pirmohamed
OBJECTIVES: Cisplatin ototoxicity affects 42-88% of treated children. Catechol-O-methyltransferase (COMT), thiopurine methyltransferase (TPMT) and AYCP2 genetic variants have been associated with ototoxicity, but the findings have been contradictory. The aims of the study were as follows: (a) to investigate these associations in a carefully phenotyped cohort of UK children and (b) to perform a systematic review and meta-analysis. METHODS: We recruited 149 children from seven UK centres using a retrospective cohort study design...
June 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28445187/the-effects-of-inherited-nudt15-polymorphisms-on-thiopurine-active-metabolites-in-japanese-children-with-acute-lymphoblastic-leukemia
#17
Takaya Moriyama, Rina Nishii, Ting-Nien Lin, Kentaro Kihira, Hidemi Toyoda, Nersting Jacob, Motohiro Kato, Katsuyoshi Koh, Hiroto Inaba, Atsushi Manabe, Kjeld Schmiegelow, Jun J Yang, Hiroki Hori
Thiopurines [e.g. mercaptopurine (MP)] are widely used as chemotherapeutic agents in the treatment of pediatric acute lymphoblastic leukemia with dose-limiting hematopoietic toxicity. Recently, germline variants in NUDT15 have been identified as a major genetic cause for MP-related bone marrow suppression, and there is increasing interest in the clinical implementation of NUDT15 genotype-guided MP dose individualization. Therefore, we sought to evaluate the effects of NUDT15 on thiopurine metabolism and identify pharmacologic markers to inform NUDT15 genotype-guided MP dosing...
June 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28430711/evaluation-of-kdr-rs34231037-as-a-predictor-of-sunitinib-efficacy-in-patients-with-metastatic-renal-cell-carcinoma
#18
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...
June 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
#19
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...
June 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
#20
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...
June 2017: Pharmacogenetics and Genomics
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