Big data in pharmacogenomics: current applications, perspectives and pitfalls.

abstract：:The successful application of pharmacogenetics in routine clinical practice is still a long way from becoming a reality. In order to favor the transfer of pharmacogenetic results to clinical practice, especially in psychiatry, these studies must be optimized. This article reviews the strengths and weaknesses that char...

journal_title：Pharmacogenomics

authors： Mas S,Llerena A,Saíz J,Bernardo M,Lafuente A

更新日期：2012-11-01 00:00:00

abstract：:Parkinson's disease (PD) is unique among neurodegenerative disorders because a highly effective pharmacological symptomatic treatment is available. The marked variability in drug response and in adverse profiles associated with this treatment led to the search of genetic markers associated with these features. We pres...

journal_title：Pharmacogenomics

authors： Schumacher-Schuh AF,Rieder CR,Hutz MH

更新日期：2014-06-01 00:00:00

abstract：:High-throughput genotyping approaches are being developed to meet the demands of pharmacogenomnics, where numerous individuals are studied with thousands of single nucleotide polymorphism (SNP) markers. All non-gel-based genotyping approaches achieve allelic discrimination by one of four mechanisms: allele-specific hy...

journal_title：Pharmacogenomics

authors： Kwok PY

更新日期：2000-02-01 00:00:00

abstract：:Chronic fatigue syndrome (CFS) is prevalent, disabling and costly. Despite extensive literature describing the epidemiology and clinical aspects of CFS, it has been recalcitrant to diagnostic biomarker discovery and therapeutic intervention. This is due to the fact that CFS is a complex illness defined by self-reporte...

journal_title：Pharmacogenomics

authors： Vernon SD,Whistler T,Aslakson E,Rajeevan M,Reeves WC

更新日期：2006-03-01 00:00:00

abstract：INTRODUCTION:Methotrexate (MTX), widely used in the treatment of rheumatoid arthritis (RA), inhibits dihydrofolate reductase and folate-dependent enzymes. Methylenetetrahydrofolate reductase (MTHFR) is involved in folate metabolism and has been shown to be polymorphic, affecting the enzyme activity. METHODS:To examine...

journal_title：Pharmacogenomics

authors： Kurzawski M,Pawlik A,Safranow K,Herczynska M,Drozdzik M

更新日期：2007-11-01 00:00:00

abstract：:Recent studies have suggested an association between mutations in the IL-36RN gene and the onset of pustular generalized. In the literature, only one case of acute generalized exanthematous pustulosis (AGEP) induced by codeine in a patient with IL36RN mutation has been reported. Herein, we reported an unusual case of ...

journal_title：Pharmacogenomics

authors： Chadli Z,Ladhari C,Kerkeni E,Djobbi A,Fredj NB,Chaabane A,Boughattas NA,Aouam K

更新日期：2018-07-01 00:00:00

abstract：:Atrial fibrillation (AF) is most common arrhythmia in general population, with increasing trend in mortality and morbidity. Electrophysiological and structural abnormalities, promoting abnormal impulse formation and propagation, lead to this disease. AF catheter ablation is related to a not small percentage of nonresp...

journal_title：Pharmacogenomics

authors： Sardu C,Santamaria M,Paolisso G,Marfella R

更新日期：2015-11-01 00:00:00

abstract：:Recent advances in next-generation sequencing techniques have greatly improved our understanding of the genomic alterations in bladder cancer. Cisplatin-based chemotherapy provides a viable treatment option in the neoadjuvant, adjuvant and metastatic setting in a selected group of patients, but chemoresistance is a ma...

journal_title：Pharmacogenomics

authors： Zuiverloon TC,Theodorescu D

更新日期：2017-08-01 00:00:00

abstract：AIM:The present study introduces a simple method for CYP2D6 genotyping that not only determines the heterozygous or homozygous deletions and duplications, but also distinguishes tandem hybrids. MATERIALS & METHODS:Using two commercially available methods, 49 Korean male subjects were genotyped for CYP2D6. The Affymetr...

journal_title：Pharmacogenomics

authors： Kim J,Lee SY,Lee KA

更新日期：2012-06-01 00:00:00

abstract：:Asthma is one of the most common respiratory diseases, where inhalation and exhalation are obstructed due to narrowing of the airways by broncho-constriction or by inflammation. Among all the available anti-asthma therapies, beta2-agonists are the most effective bronchodilators available, and give rapid relief of asth...

journal_title：Pharmacogenomics

authors： Bhatnagar P,Guleria R,Kukreti R

更新日期：2006-09-01 00:00:00

abstract：:Arylamine N-acetyltransferases (NATs) catalyze the transfer of an acetyl group from acetyl-CoA to arylhydrazines and to arylamine drugs and carcinogens or to their N-hydroxylated metabolites. NAT plays an important role in detoxification and metabolic activation of xenobiotics and was first identified as the enzyme re...

journal_title：Pharmacogenomics

authors： Pompeo F,Brooke E,Kawamura A,Mushtaq A,Sim E

更新日期：2002-01-01 00:00:00

abstract：:An improved understanding of the human immune system and the genetic make-up of pathogens, together with advances in instrumentation and bioinformatics, have provided new insights into the variation of immune responses to vaccines within the human population. Pathogen variation and the diversity of the immune system c...

journal_title：Pharmacogenomics

authors： Brusic V,August JT

更新日期：2004-09-01 00:00:00

abstract：AIM:Our objective was to describe the association between voriconazole concentrations and CYP2C19 diplotypes in pediatric cancer patients, including children homozygous for the CYP2C19*17 gain-of-function allele. MATERIALS & METHODS:A linear mixed effect model compared voriconazole dose-corrected trough concentrations...

journal_title：Pharmacogenomics

authors： Hicks JK,Crews KR,Flynn P,Haidar CE,Daniels CC,Yang W,Panetta JC,Pei D,Scott JR,Molinelli AR,Broeckel U,Bhojwani D,Evans WE,Relling MV

更新日期：2014-06-01 00:00:00

abstract：AIMS:To study the frequency distribution of cytochrome P450 (CYP) functional genetic variants in five Eurasian populations from the territory of Siberia in Russia. MATERIALS & METHODS:Unrelated healthy Tuvinians, Buryats, Altaians, Yakuts and Russians (n = 87-88) were genotyped for CYP2C9*2, CYP2C9*3, CYP2C19*2, CYP2C...

journal_title：Pharmacogenomics

authors： Makeeva O,Stepanov V,Puzyrev V,Goldstein DB,Grossman I

更新日期：2008-07-01 00:00:00

abstract：:Alteration in epigenetic regulation of gene expression is a frequent event in human cancer. CpG island hypermethylation and downregulation is observed for many genes involved in a diverse range of functions and pathways that become deregulated in cancer. Paradoxically, global hypomethylation is a hallmark of almost al...

journal_title：Pharmacogenomics

authors： Vucic EA,Brown CJ,Lam WL

更新日期：2008-02-01 00:00:00

abstract：AIM:To determine diagnostic accuracy of HLA-B*57:01 testing for prediction of abacavir-induced hypersensitivity and to quantify the clinical benefit of pretreatment screening through a meta-analytic review of published studies. METHODS:A comprehensive search was performed up to June 2013. The methodological quality of...

journal_title：Pharmacogenomics

authors： Cargnin S,Jommi C,Canonico PL,Genazzani AA,Terrazzino S

更新日期：2014-05-01 00:00:00

abstract：:Recently, the USA FDA has made a labeling change to the drug information contained in carbamazepine. Owing to recent data implicating the HLA allele B*1502 as a marker for carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Han Chinese, the FDA recommends genotyping all Asians for the alle...

journal_title：Pharmacogenomics

authors： Ferrell PB Jr,McLeod HL

更新日期：2008-10-01 00:00:00

abstract：:Pharmacogenomics seeks to understand the genetic basis of interindividual differences in drug disposition and effects. Differential drug response is likely to most often be a complex trait, in which multiple genes contribute with varying strengths to the therapeutic phenotype. Due to technical and economic limitations...

journal_title：Pharmacogenomics

authors： Watters JW,McLeod HL

更新日期：2002-11-01 00:00:00

abstract：OBJECTIVES:The objective of this study was to assess the utility of the gene expression profiling technique for the preclinical evaluation of drug efficacy and safety, taking a new therapeutic approach for Duchenne muscular dystrophy (DMD) as an example. METHODS:Muscles from dystrophin-deficient (mdx) mice, a well-cha...

journal_title：Pharmacogenomics

authors： 't Hoen PA,van der Wees CG,Aartsma-Rus A,Turk R,Goyenvalle A,Danos O,Garcia L,van Ommen GJ,den Dunnen JT,van Deutekom JC

更新日期：2006-04-01 00:00:00

abstract：OBJECTIVE:We designed this trial to investigate if modifications in levels of circulating vascular endothelial growth factor (VEGF) may be related to clinical response and outcome in advanced colorectal cancer patients during treatment with a weekly combination of cetuximab plus irinotecan. METHODS:A total of 45 heavi...

journal_title：Pharmacogenomics

authors： Vincenzi B,Santini D,Russo A,Gavasci M,Battistoni F,Dicuonzo G,Rocci L,Rosaria VM,Gebbia N,Tonini G

更新日期：2007-04-01 00:00:00

abstract：AIM:The activity of several key enzymes involved in the metabolism of many drugs is subject to change closely related to the age of patients. This possibility must also be considered in the case of tacrolimus, the most important calcineurins inhibitor, which is widely used in pediatric kidney transplantation. As well a...

journal_title：Pharmacogenomics

authors： Ferraresso M,Turolo S,Belingheri M,Tirelli AS,Cortinovis I,Milani S,Edefonti A,Ghio L

更新日期：2015-01-01 00:00:00

abstract：:In this report, we review the importance of pharmacovigilance in detecting postmarketing adverse drug events and the potential for developing pharmacogenovigilance programs by integrating pharmacogenomics with pharmacovigilance. We propose to start developing such a program in primary healthcare systems that use basic...

journal_title：Pharmacogenomics

authors： Awada Z,Zgheib NK

更新日期：2014-04-01 00:00:00

abstract：:Human cytochrome P450 (CYP)3A is a major P450 enzyme found in the liver and gastrointestinal tract. It plays an important role in the metabolism of a wide variety of drugs, some endogenous steroids and harmful environmental contaminants. It has been shown that CYP3A alleles encoding enzymes with little or no activity ...

journal_title：Pharmacogenomics

authors： Liu CH,Peck K,Huang JD,Lin MS,Wang CH,Hsu WP,Wang HW,Lee HL,Lai ML

更新日期：2005-10-01 00:00:00

abstract：:ALK was first reported in 1994 as a translocation in anaplastic large cell lymphoma and then described with different abnormalities in a number of tumors. Recently, a shortly accumulated biomedical research clarified the numerous biological processes underlying its ability to support cancer development, growth and pro...

journal_title：Pharmacogenomics

authors： Palmirotta R,Quaresmini D,Lovero D,Silvestris F

更新日期：2017-02-01 00:00:00

abstract：:The extent of genetic variation found in drug metabolism genes and its contribution to interindividual variation in response to medication remains incompletely understood. To better determine the identity and frequency of variation in 11 phase I drug metabolism genes, the exons and flanking intronic regions of the cyt...

journal_title：Pharmacogenomics

authors： Solus JF,Arietta BJ,Harris JR,Sexton DP,Steward JQ,McMunn C,Ihrie P,Mehall JM,Edwards TL,Dawson EP

更新日期：2004-10-01 00:00:00

abstract：:Large interindividual variation in efficacy and adverse effects of anti-epileptic therapy presents opportunities and challenges in pharmacogenomics. Although the first true association of genetic polymorphism in drug-metabolizing enzymes with anti-epileptic drug dose was reported 10 years ago, most of the findings hav...

journal_title：Pharmacogenomics

authors： Kasperaviciūte D,Sisodiya SM

更新日期：2009-05-01 00:00:00

abstract：AIMS:Bipolar disorder (BD) is a lifelong psychiatric illness characterized by manic and depressive episodes affecting 1-5% of the general population. Among mood-stabilizing treatments, lithium represents the mainstay in the therapeutic management of BD. However, besides the relatively high rate of excellent responders,...

journal_title：Pharmacogenomics

authors： Squassina A,Manchia M,Borg J,Congiu D,Costa M,Georgitsi M,Chillotti C,Ardau R,Mitropoulos K,Severino G,Del Zompo M,Patrinos GP

更新日期：2011-11-01 00:00:00

abstract：:miRNAs are reported to sequence-specifically control the translation of target mRNAs by binding to 3 UTRs. The abundant expression of miRNAs in the brain highlights their biological significance in neurodevelopment. Many studies have shown that miRNAs are involved in a variety of functions, including developmental tra...

journal_title：Pharmacogenomics

authors： Singh SK

更新日期：2007-08-01 00:00:00

abstract：:Discovery Partners International (Nasdaq: DPII) is a leader in collaborative drug discovery. DPI's integrated discovery framework encompasses a broad spectrum of capabilities in chemistry, biology, informatics, computational modeling and synthesis automation. DPI's approach to drug discovery places a heavy emphasis on...

journal_title：Pharmacogenomics

authors： Herd C

更新日期：2002-01-01 00:00:00

abstract：:Individuals with neuropsychiatric diseases have epigenetic programming disturbances, both in the brain, which is the primary affected organ, and in secondary tissues. Epigenetic modulations are molecular modifications made to DNA, RNA and proteins that fine-tune genotype into phenotype and do not include DNA base chan...

journal_title：Pharmacogenomics

authors： Abdolmaleky HM,Zhou JR,Thiagalingam S,Smith CL

更新日期：2008-12-01 00:00:00