Abstract:
BACKGROUND:Essential hypertension arises from the combined effect of genetic and environmental factors. A pharmacogenomics approach could help to identify additional molecular mechanisms involved in its pathogenesis. AIM:The aim of SOPHIA study was to identify genetic polymorphisms regulating blood pressure response to the angiotensin II receptor blocker, losartan, with a whole-genome approach. MATERIALS & METHODS:We performed a genome-wide association study on blood pressure response in 372 hypertensives treated with losartan and we looked for replication in two independent samples. RESULTS:We identified a peak of association in CAMK1D gene (rs10752271, effect size -5.5 ± 0.94 mmHg, p = 1.2 × 10(-8)). CAMK1D encodes a protein that belongs to the regulatory pathway involved in aldosterone synthesis. We tested the specificity of rs10752271 for losartan in hypertensives treated with hydrochlorothiazide and we validated it in silico in the GENRES cohort. CONCLUSION:Using a genome-wide approach, we identified the CAMK1D gene as a novel locus associated with blood pressure response to losartan. CAMK1D gene characterization may represent a useful tool to personalize the treatment of essential hypertension.
journal_name
Pharmacogenomicsjournal_title
Pharmacogenomicsauthors
Frau F,Zaninello R,Salvi E,Ortu MF,Braga D,Velayutham D,Argiolas G,Fresu G,Troffa C,Bulla E,Bulla P,Pitzoi S,Piras DA,Glorioso V,Chittani M,Bernini G,Bardini M,Fallo F,Malatino L,Stancanelli B,Regolisti G,Ferridoi
10.2217/pgs.14.119subject
Has Abstractpub_date
2014-09-01 00:00:00pages
1643-52issue
13eissn
1462-2416issn
1744-8042journal_volume
15pub_type
杂志文章相关文献
PHARMACOGENOMICS文献大全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
pub_type: 杂志文章
doi:10.2217/14622416.9.7.847
更新日期:2008-07-01 00:00:00
abstract::Cost-effectiveness analysis is a widely used tool to assess the value of healthcare interventions. Our objective was to conduct a systematic review of the literature on the cost effectiveness of pharmacogenomic interventions. We found 11 studies that met our inclusion criteria. The most commonly examined disease was d...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.1517/14622416.5.8.1139
更新日期:2004-12-01 00:00:00
abstract::Biobanking became a necessity for translating genetic discoveries into clinical practice. Approaches to personalized medicine require a new model system for functional and pharmacogenomic studies of a variety of accumulating genetic variations, as well as new research environments such as biobankomics. Human lymphobla...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs.11.24
更新日期:2011-06-01 00:00:00
abstract:AIM:Pharmacogenetic landscapes of commonly used antiplatelet drugs, warfarin and clopidogrel have been studied in-depth in many countries. However, there is a paucity of data to understand their patterns in the Arab populations. MATERIALS & METHODS:We analyzed the whole exome sequencing datasets of 100 Qatar individua...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs-2016-0130
更新日期:2016-11-01 00:00:00
abstract::Aim: The CYP2D6 gene is highly polymorphic and harbors population specific alleles that define its predominant metabolizer phenotype. This study aimed to identify polymorphisms in Indian population owing to scarcity of CYP2D6 data in this population. Materials & methods: The CYP2D6 gene was resequenced in 105 south In...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs-2019-0049
更新日期:2019-07-01 00:00:00
abstract::Evaluating the prospects for 'personalized healthcare' has become topical at the 10-year anniversary of the first results from the Human Genome Project. The coincidence of this milestone with a period of global financial difficulty is unfortunate, but industry has signaled its willingness to invest in this new medical...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs.12.143
更新日期:2012-11-01 00:00:00
abstract::COVID-19 utilizes the ACE2 pathway as a means of infection. Early data on COVID-19 suggest heterogeneity in the severity of symptoms during transmission and infection ranging from no symptoms to death. The source of this heterogeneity is likely multifaceted and may have a genetic component. Demographic and clinical co...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/pgs-2020-0048
更新日期:2020-07-01 00:00:00
abstract::The advent of multiplexing technologies has raised the possibility that disease states can be defined using discrete genomic and proteomic patterns or signatures. However, this emerging area has been limited by the 'content problem', arising from the uncertainty of which molecules to focus on. The human cluster of dif...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/14622416.7.5.759
更新日期:2006-07-01 00:00:00
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
pub_type: 杂志文章,多中心研究,评审
doi:10.2217/pgs.12.159
更新日期:2012-11-01 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
pub_type: 临床试验,杂志文章
doi:10.2217/14622416.8.11.1551
更新日期:2007-11-01 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
pub_type: 杂志文章
doi:10.2217/14622416.6.7.731
更新日期:2005-10-01 00:00:00
abstract::Pharmacogenomics examines how the benefits and adverse effects of a drug vary among patients in a target population by analyzing genomic profiles of individual patients. Personalized medicine prescribes specific therapeutics that best suit an individual patient. Much current research focuses on developing genomic biom...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/pgs.13.75
更新日期:2013-06-01 00:00:00
abstract:BACKGROUND & METHODS:Economic evaluation in genomic medicine is an emerging discipline to assess the cost-effectiveness of genome-guided treatment. Here, we developed a pharmaco-economic model to assess whether pharmacogenomic (PGx)-guided warfarin treatment of elderly ischemic stroke patients with atrial fibrillation ...
journal_title:Pharmacogenomics
pub_type: 杂志文章,随机对照试验
doi:10.2217/pgs.14.167
更新日期:2015-01-01 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
pub_type: 杂志文章,评审
doi:10.2217/14622416.9.12.1809
更新日期:2008-12-01 00:00:00
abstract::Translational research is frequently used in the bioscience literature to refer to the translation of basic science into practical applications at the point of patient care. With the introduction of theragnostics, a new medical subspecialty that fuses therapeutics and diagnostic medicine with the goal of providing ind...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/14622416.8.2.177
更新日期:2007-02-01 00:00:00
abstract:AIM:The present study explored the integrative effect of genes encoding methadone pharmacokinetic and pharmacodynamic pathways on methadone maintenance doses in Han Chinese Patients. MATERIALS & METHODS:Genomic DNA was extracted from 321 opioid-dependent patients and 202 healthy controls, and realtime-PCR and PCR-RFLP...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs.11.96
更新日期:2011-11-01 00:00:00
abstract::Aim: The need for pharmacogenomic education is becoming more and more urgent. Our aim was to evaluate the progress in pharmacogenomics education since then, and to put forward further recommendations. Methods: A survey was sent to 248 schools of medicine, pharmacy, nursing and health professions around the world. Resu...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs-2019-0009
更新日期:2019-06-01 00:00:00
abstract:INTRODUCTION:One of the causes of long-term morbidity associated with the treatment of acute lymphoblastic leukemia (ALL) is late neurotoxicity manifesting as impairment of higher cognitive functions. Cranial radiation therapy (CRT) and chemotherapeutic agents, particularly methotrexate (MTX), are often suggested to be...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.1517/14622416.6.3.293
更新日期:2005-04-01 00:00:00
abstract::Comprehensive, personalized medication management and pharmacogenetic testing are important existing opportunities to reduce adverse medication events and improve overall healthcare outcomes. A primary barrier to the adoption of personalized pharmacology is the inadequacy of existing patient records, drug interaction ...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/14622416.9.4.469
更新日期:2008-04-01 00:00:00
abstract:AIM:To investigate the pharmacokinetics of voriconazole when administered to HIV-positive patients receiving treatment with atazanavir-containing therapies according to CYP2C19 genotype. MATERIALS & METHODS:We describe four HIV-positive patients with pulmonary aspergillosis treated with voriconazole and atazanavir-bas...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs.14.92
更新日期:2014-07-01 00:00:00
abstract:AIM:This study aimed to assess the effectiveness of genotype-guided warfarin dosing. PATIENTS & METHODS:A total of 109 adults were randomized to receive initial dosing as determined by an algorithm containing genetic (VKORC1 and CYP2C9) plus clinical information or only clinical information. Primary end points were th...
journal_title:Pharmacogenomics
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.2217/pgs.13.145
更新日期:2013-10-01 00:00:00
abstract:AIM:We examined whether HLA-DRB1*1501 and four VDR SNPs influence the macrophage response to infection with Mycobacterium tuberculosis (Mtb) via innate immune versus drug treatment or drug delivery mechanisms. MATERIALS & METHODS:Monocyte-derived macrophages from 24 healthy donors were infected with Mtb in vitro. Surv...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs.13.12
更新日期:2013-04-01 00:00:00
abstract::Founded as a spin-off from the University of Vienna in 1999, VBC-GENOMICS Bioscience Research GmbH (LLC) has rapidly gained a strong position within the Austrian biotech scene, based on its success as a service provider in oligonucleotide synthesis and custom sequencing. In research, the company has focused on the dev...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.1517/14622416.5.4.439
更新日期:2004-06-01 00:00:00
abstract::Aim: To define the impact of polymorphisms in genes involved in platinum-taxane and estrogen activity in the outcome of platinum-based treated ovarian cancer patients (OCP). Patients & Methods: Two hundred and thirty OCP were analyzed for 124 germ-line polymorphisms to generate a prognostic score for overall survival ...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs-2020-0049
更新日期:2020-09-01 00:00:00
abstract::Interindividual variability in drug response and the emergence of adverse drug effects are the main causes of treatment failure in cancer therapy. Functional membrane drug transporters play important roles in altering pharmacokinetic profile, resistance to treatment, toxicity and patient survival. Pharmacogenetic stud...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/pgs.12.165
更新日期:2012-12-01 00:00:00
abstract::Response to medication is highly variable, unpredictable and, at times, may be fatal. All drugs are more effective in certain groups of the population while showing no or minimal benefit in other groups. Although the current data on the subject are piecemeal, anecdotal evidence suggests that, in line with other common...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/pgs.09.171
更新日期:2010-02-01 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
pub_type: 杂志文章
doi:10.2217/pgs-2017-0200
更新日期:2018-07-01 00:00:00
abstract::While antidepressants are widely used to treat mood and anxiety disorders, only half of the patients will respond to antidepressant treatment and only one-third of patients experience a full remission of symptoms. The identification of genetic biomarkers that predict antidepressant-treatment response can improve curre...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/pgs.12.1
更新日期:2012-03-01 00:00:00
abstract::Aim: To determine if selected serotonergic and noradrenergic gene variants are associated with heroin addiction. Subjects & methods: A total of 126 variants in 19 genes in subjects with Dutch European ancestry from The Netherlands. Subjects included 281 opioid-dependent volunteers in methadone maintenance or heroin-as...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs-2018-0137
更新日期:2019-04-01 00:00:00
abstract::Despite their clearly distinct pathophysiologies, HIV and cancer are diseases whose response to chemotherapy treatment varies substantially amongst patients, in particular for those with prior drug exposure. This has been attributed, in part, to elevated expression of the ABCB1 drug transporter in some patients, which...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/pgs.11.84
更新日期:2011-10-01 00:00:00