Methods and implementation of a pediatric asthma pharmacogenomic study in the emergency department setting.

abstract：AIM:A finite number of variants in the OPRM1, COMT, MC1R, ABCB1 and CYP2D6 genes has been identified to significantly modulate the effects of opioids in controlled homogenous settings. We analyzed the imprint of these variants in opioid therapy in a highly variable cohort of pain patients treated in outpatient units to...

journal_title：Pharmacogenetics and genomics

authors： Lötsch J,von Hentig N,Freynhagen R,Griessinger N,Zimmermann M,Doehring A,Rohrbacher M,Sittl R,Geisslinger G

更新日期：2009-06-01 00:00:00

abstract：BACKGROUND:Pharmacogenetic research has shown that genetic variation may influence statin responsiveness. Statins exert a variety of beneficial effects beyond lipid lowering, including antithrombotic effects, which contribute to the risk reduction of cardiovascular disease. Statins have been shown to influence the expr...

journal_title：Pharmacogenetics and genomics

authors： Maitland-van der Zee AH,Peters BJ,Lynch AI,Boerwinkle E,Arnett DK,Cheng S,Davis BR,Leiendecker-Foster C,Ford CE,Eckfeldt JH

更新日期：2009-05-01 00:00:00

abstract：OBJECTIVE:To examine the relationship between types and locations of mutations of the enzyme alpha-galactosidase (Gal) A in Fabry disease and the response to the pharmacological chaperone 1-deoxygalactonojirimycin (DGJ). METHODS:T cells grown from normal individuals or from patients with Fabry disease were tested for ...

journal_title：Pharmacogenetics and genomics

authors： Shin SH,Kluepfel-Stahl S,Cooney AM,Kaneski CR,Quirk JM,Schiffmann R,Brady RO,Murray GJ

更新日期：2008-09-01 00:00:00

abstract：:The present study aimed to determine whether a polymorphism in CYP3A5, encoding the major CYP3A enzyme in the human kidney, is associated with blood pressure in Caucasians. A homogenous group of 115 young, white male students with normal or mildly elevated, but untreated blood pressure was included. Blood pressure was...

journal_title：Pharmacogenetics and genomics

authors： Fromm MF,Schmidt BM,Pahl A,Jacobi J,Schmieder RE

更新日期：2005-10-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to examine the associations between genetic variations in the human KCNK2 gene and major depressive disorder (MDD) and response to antidepressant treatment. METHOD:Four hundred and forty-nine patients with MDD and 421 normal controls were included in the study; among the MDD patient...

journal_title：Pharmacogenetics and genomics

authors： Liou YJ,Chen TJ,Tsai SJ,Yu YW,Cheng CY,Hong CJ

更新日期：2009-10-01 00:00:00

abstract：BACKGROUND:Co-trimoxazole is a sulfonamide-containing antibiotic that is effective in the treatment of several infections and for prophylaxis of Pneumocystis jiroveci pneumonia. This drug has been reported as a common culprit drug for the Stevens-Johnson syndrome (SJS) and for toxic epidermal necrolysis (TEN). Human le...

journal_title：Pharmacogenetics and genomics

authors： Kongpan T,Mahasirimongkol S,Konyoung P,Kanjanawart S,Chumworathayi P,Wichukchinda N,Kidkeukarun R,Preechakul S,Khunarkornsiri U,Bamrungram W,Supharatwattanakun B,Mootsikapun P,Kwangsukstid S,Denjanta S,Vannaprasaht S,Rungap

更新日期：2015-08-01 00:00:00

abstract：OBJECTIVES:The aim of this study was to evaluate the effect of polymorphisms affecting the clopidogrel metabolism (CYP3A4 IVS10+12G/A and CYP2C19*2) and the P2Y12 receptor (P2Y12 T744C) on modulating platelet function in acute coronary syndrome patients on dual antiplatelet treatment. BACKGROUND:Residual platelet reac...

journal_title：Pharmacogenetics and genomics

authors： Giusti B,Gori AM,Marcucci R,Saracini C,Sestini I,Paniccia R,Valente S,Antoniucci D,Abbate R,Gensini GF

更新日期：2007-12-01 00:00:00

abstract：:The human cytochrome P450 2A6 (CYP2A6) enzyme metabolizes several xenobiotic compounds of clinical or toxicological importance. We aimed to identify genetic variants and major CYP2A6 haplotypes associated with CYP2A6 phenotypic variation. CYP2A6 mRNA level, protein level, activity and haplotypes were determined in Cau...

journal_title：Pharmacogenetics and genomics

authors： Haberl M,Anwald B,Klein K,Weil R,Fuss C,Gepdiremen A,Zanger UM,Meyer UA,Wojnowski L

更新日期：2005-09-01 00:00:00

abstract：: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 epistati...

journal_title：Pharmacogenetics and genomics

authors： Rajagopal VM,Rajkumar AP,Jacob KS,Jacob M

更新日期：2018-01-01 00:00:00

abstract：:Fumaric acid esters (FAE) are beneficial in the treatment of psoriasis. However, about a third of psoriasis patients do not respond to FAE. We aimed to determine whether glutathione-S-transferase (GST) M1 and GSTP1 polymorphisms are associated with treatment outcome in psoriasis patients treated with FAE. We studied 8...

journal_title：Pharmacogenetics and genomics

authors： Gambichler T,Susok L,Zankl J,Skrygan M

更新日期：2016-05-01 00:00:00

abstract：: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 i...

journal_title：Pharmacogenetics and genomics

authors： Prestin K,Olbert M,Hussner J,Völzke H,Meyer Zu Schwabedissen HE

更新日期：2017-11-01 00:00:00

abstract：:Vitamin D has potent anti-tumour properties. Calcitriol [1,25(OH)2D3], the hormonal derivative of vitamin D3, is an antiproliferative and prodifferentiation factor for several cell types, including human squamous cells of the head and neck. Several polymorphisms of the vitamin D receptor (VDR) gene have been described...

journal_title：Pharmacogenetics and genomics

authors： Liu Z,Calderon JI,Zhang Z,Sturgis EM,Spitz MR,Wei Q

更新日期：2005-03-01 00:00:00

abstract：OBJECTIVES:A total of 2402 patients with arsenic-related skin lesions, such as hyperkeratosis, hyperpigmentation or hypopigmentation, or even skin cancer in a few villages in Southwest Guizhou Autonomous Prefecture, China represent a unique case of endemic arsenism related with indoor combustion of high arsenic coal. T...

journal_title：Pharmacogenetics and genomics

authors： Lin GF,Du H,Chen JG,Lu HC,Guo WC,Meng H,Zhang TB,Zhang XJ,Lu DR,Golka K,Shen JH

更新日期：2006-12-01 00:00:00

abstract：BACKGROUND:Genetic variants appear to influence, at least to some degree, the extent of brain injury and the clinical outcome of patients who have sustained a traumatic brain injury (TBI). Angiotensin-converting enzyme (ACE) is a zinc metallopeptidase that is implicated in the regulation of blood pressure and cerebral ...

journal_title：Pharmacogenetics and genomics

authors： Dardiotis E,Paterakis K,Siokas V,Tsivgoulis G,Dardioti M,Grigoriadis S,Simeonidou C,Komnos A,Kapsalaki E,Fountas K,Hadjigeorgiou GM

更新日期：2015-10-01 00:00:00

abstract：: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 nonre...

journal_title：Pharmacogenetics and genomics

authors： Ristić S,Starčević Čizmarević N,Lavtar P,Lovrečić L,Perković O,Sepčić J,Šega Jazbec S,Kapović M,Peterlin B

更新日期：2017-06-01 00:00:00

abstract：BACKGROUND:Despite the enormous success of imatinib in chronic myeloid leukemia (CML), therapy resistance has emerged in a significant proportion of patients, partly because of the overexpression of ABC efflux transporters. METHODS:Using an array comprising 667 miRNAs, we investigated whether the expression of microRN...

journal_title：Pharmacogenetics and genomics

authors： Turrini E,Haenisch S,Laechelt S,Diewock T,Bruhn O,Cascorbi I

更新日期：2012-03-01 00:00:00

abstract：BACKGROUND:P-glycoprotein (P-gp) is a multidrug efflux transporter that has a defined role in the absorption and disposition of drugs. Many studies have investigated the potential influence of ABCB1 polymorphisms on the disposition of its substrates. However, there remains significant controversy regarding the role of ...

journal_title：Pharmacogenetics and genomics

authors： Dickens D,Owen A,Alfirevic A,Pirmohamed M

更新日期：2013-06-01 00:00:00

abstract：OBJECTIVE:Genome-wide single nucleotide polymorphism (SNP) association studies recently identified two SNPs (rs11833579 and rs12425791) on chromosome 12p13 that are associated with ischemic stroke (IS) in Caucasian or Black persons from America and the Netherlands. Our aim was to determine whether these SNPs were assoc...

journal_title：Pharmacogenetics and genomics

authors： Tong Y,Zhang Y,Zhang R,Geng Y,Lin L,Wang Z,Liu J,Li X,Cao Z,Xu J,Chai Y,Fan H,Hu FB,Lu Z,Cheng J

更新日期：2011-09-01 00:00:00

abstract：OBJECTIVE:The objective of the present study was to evaluate whether germline methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms as well as polymorphisms in the thymidylate synthase gene promoter, namely the variable number tandem repeat polymorphism (TS VNTR) and the intrarepeat G to C single n...

journal_title：Pharmacogenetics and genomics

authors： Terrazzino S,Agostini M,Pucciarelli S,Pasetto LM,Friso ML,Ambrosi A,Lisi V,Leon A,Lise M,Nitti D

更新日期：2006-11-01 00:00:00

abstract：BACKGROUND:5-Hydroxytryptamine 3 (5-HT3) receptors mediate the fast excitatory neurotransmission of serotonin. In this study, we have characterized the effects of four naturally occurring, nonsynonymous variants of the human 5-HT3B subunit on expression and signalling properties of heteromeric 5-HT3AB receptors. METHO...

journal_title：Pharmacogenetics and genomics

authors： Krzywkowski K,Davies PA,Irving AJ,Bräuner-Osborne H,Jensen AA

更新日期：2008-12-01 00:00:00

abstract：:The study aimed to investigate whether polymorphisms in genes of the EGFR signaling pathway are associated with clinical outcome in advanced colorectal cancer (CRC) patients treated with single-agent Cetuximab. Polymorphisms of interest in the EGFR pathway include: cyclin D1 (CCND1) A870G, cyclooxygenase 2 (Cox-2) G-7...

journal_title：Pharmacogenetics and genomics

authors： Zhang W,Gordon M,Press OA,Rhodes K,Vallböhmer D,Yang DY,Park D,Fazzone W,Schultheis A,Sherrod AE,Iqbal S,Groshen S,Lenz HJ

更新日期：2006-07-01 00:00:00

abstract：OBJECTIVES:The effect of rifapentine plus isoniazid on efavirenz pharmacokinetics was characterized in AIDS Clinical Trials Group protocol A5279 (NCT01404312). The present analyses characterize pharmacogenetic interactions between these drugs, and with nevirapine. METHODS:A subset of HIV-positive individuals receiving...

journal_title：Pharmacogenetics and genomics

authors： Haas DW,Podany AT,Bao Y,Swindells S,Chaisson RE,Mwelase N,Supparatpinyo K,Mohapi L,Gupta A,Benson CA,Baker P,Fletcher CV

更新日期：2021-01-01 00:00:00

abstract：OBJECTIVES:This study aimed to explore the influence of variation in DRD2, DRD3, CYP2D6, CYP3A4, and CYP3A5 genes on treatment resistance to typical neuroleptics in a Brazilian sample of patients with schizophrenia. METHODS:One polymorphism at DRD2 gene, five at DRD3, 24 at CYP2D6, nine at CYP3A4 gene, and one at CYP3...

journal_title：Pharmacogenetics and genomics

authors： Kohlrausch FB,Gama CS,Lobato MI,Belmonte-de-Abreu P,Callegari-Jacques SM,Gesteira A,Barros F,Carracedo A,Hutz MH

更新日期：2008-07-01 00:00:00

abstract：:The existence of genetic polymorphisms in metabolizing enzymes can be regarded as one of the principal causes of interindividual variation in response to drugs and adverse reactions. In the case of enzyme CYP2C9, the presence of genetic coding variants could be considered a risk factor for suffering from gastrointesti...

journal_title：Pharmacogenetics and genomics

authors： Estany-Gestal A,Salgado-Barreira A,Sánchez-Diz P,Figueiras A

更新日期：2011-07-01 00:00:00

abstract：OBJECTIVE:As no single nucleotide polymorphism has emerged as pivotal to predict the lack of efficacy and dose-limiting toxicities to methotrexate (MTX), we evaluated the contribution of gene-gene interactions to the effects of this prodrug in rheumatoid arthritis. METHODS:A total of 255 patients treated with MTX for ...

journal_title：Pharmacogenetics and genomics

authors： Dervieux T,Wessels JA,van der Straaten T,Penrod N,Moore JH,Guchelaar HJ,Kremer JM

更新日期：2009-12-01 00:00:00

abstract：OBJECTIVE:Clinical response to topiramate can vary greatly in obese patients. Identifying genetic variants associated with treatment response could help gain insight into the mechanism of action of topiramate. Little is known about the relationship between genetic variability and topiramate treatment response. We perfo...

journal_title：Pharmacogenetics and genomics

authors： Li QS,Lenhard JM,Zhan Y,Konvicka K,Athanasiou MC,Strauss RS,Francke S

更新日期：2016-02-01 00:00:00

abstract：OBJECTIVE:Glutathione S-transferase enzymes (GSTs; EC: 2.5.1.18) constitute the principal phase II superfamily, which plays a key role in cellular detoxification. GST genes are organized in chromosomal clusters; most of these genes are polymorphic, mainly due to single nucleotide substitutions. Different studies proved...

journal_title：Pharmacogenetics and genomics

authors： Polimanti R,Piacentini S,Fuciarelli M

更新日期：2011-10-01 00:00:00

abstract：BACKGROUND:Previous studies have shown that polymorphisms in the β2-adrenergic receptor gene (ADRB2) may influence bronchodilator response (BDR) to both β2-agonists and anticholinergics, possibly by intracellular cross-talk, but in opposite ways, in the Japanese population. We hypothesized that the preferential respons...

journal_title：Pharmacogenetics and genomics

authors： Konno S,Makita H,Hasegawa M,Nasuhara Y,Nagai K,Betsuyaku T,Hizawa N,Nishimura M

更新日期：2011-11-01 00:00:00

abstract：OBJECTIVES:Body weight regulation is under complex control involving the central nervous system and peripheral pathways. The beta-adrenoceptor Galphas protein system plays an important role in heart rate regulation and lipid mobilization suggesting a key role for the stimulatory G protein Galphas in body weight regulat...

journal_title：Pharmacogenetics and genomics

authors： Frey UH,Hauner H,Jöckel KH,Manthey I,Brockmeyer N,Siffert W

更新日期：2008-02-01 00:00:00

abstract：:UGT1A1 is induced by phenobarbital. We investigated whether three common UGT1A1 variants are associated with the variability in UGT1A1 inducibility. Human hepatocytes were incubated with 2 mM phenobarbital for 2 and 6 days followed by 5 microM SN-38 (1 h), a UGT1A1 probe. SN-38 glucuronidation in the cell media was me...

journal_title：Pharmacogenetics and genomics

authors： Ramírez J,Komoroski BJ,Mirkov S,Graber AY,Fackenthal DL,Schuetz EG,Das S,Ratain MJ,Innocenti F,Strom SC

更新日期：2006-02-01 00:00:00