Three haplotypes associated with CYP2A6 phenotypes in Caucasians.

abstract：OBJECTIVE:To examine the hypothesis that genetic variation in enzymes and transporters associated with synthesis, storage, release, and metabolism of catecholamines contributes to the interindividual variability in plasma catecholamine concentrations at rest and after exercise. METHODS:We measured plasma norepinephrin...

journal_title：Pharmacogenetics and genomics

authors： Ghimire LV,Kohli U,Li C,Sofowora GG,Muszkat M,Friedman EA,Solus JF,Wood AJ,Stein CM,Kurnik D

更新日期：2012-04-01 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：:There is a considerable interindividual variation in L-thyroxine [3,5,3',5'-tetraiodo-l-thyronine (T4)] dose required for thyrotropin (thyroid-stimulating hormone) suppression in patients with differentiated thyroid cancer. To investigate whether uridine diphosphate-glucuronosyl transferase 1A1 (UGT1A1)-mediated T4 gl...

journal_title：Pharmacogenetics and genomics

authors： Vargens DD,Neves RR,Bulzico DA,Ojopi EB,Meirelles RM,Pessoa CN,Prado CM,Gonçalves PA,Leal VL,Suarez-Kurtz G

更新日期：2011-06-01 00:00:00

abstract：OBJECTIVE:To determine whether polymorphisms in the sulfonamide detoxification genes, CYB5A (encoding cytochrome b(5)), CYB5R3 (encoding cytochrome b(5) reductase), or NAT2 (encoding N-acetyltransferase 2) were over-represented in patients with delayed sulfonamide drug hypersensitivity, compared with control patients w...

journal_title：Pharmacogenetics and genomics

authors： Sacco JC,Abouraya M,Motsinger-Reif A,Yale SH,McCarty CA,Trepanier LA

更新日期：2012-10-01 00:00:00

abstract：BACKGROUND:The mammalian target of rapamycin (m-TOR) inhibitor sirolimus is an immunosuppressive drug used in kidney transplantation. m-TOR binds with Raptor and phosphorylates p70S6 kinase, a protein involved in numerous cell signalling pathways. We examined the association of candidate polymorphisms in m-TOR, Raptor ...

journal_title：Pharmacogenetics and genomics

authors： Woillard JB,Kamar N,Rousseau A,Rostaing L,Marquet P,Picard N

更新日期：2012-10-01 00:00:00

abstract：OBJECTIVE:Nicotine, the main addictive ingredient in tobacco, is metabolically inactivated to cotinine primarily by the hepatic enzyme CYP2A6. Considerable genetic variation in the CYP2A6 gene results in large variation in the rates of nicotine metabolism, which in turn alters smoking behaviours (e.g. amount of cigaret...

journal_title：Pharmacogenetics and genomics

authors： Piliguian M,Zhu AZ,Zhou Q,Benowitz NL,Ahluwalia JS,Sanderson Cox L,Tyndale RF

更新日期：2014-02-01 00:00:00

abstract：PURPOSE:Polymorphisms in genes encoding subunits of heterotrimeric G proteins have been repeatedly associated with various cancers. As G beta gamma signaling is presumed to be involved in proliferation and invasion processes, we analyzed genetic variations in regulatory regions of GNB4, which encodes the G beta 4 subun...

journal_title：Pharmacogenetics and genomics

authors： Riemann K,Struwe H,Eisenhardt A,Obermaier B,Schmid KW,Siffert W

更新日期：2008-11-01 00:00:00

abstract：OBJECTIVE:Maldescended testes are the most common genital anomaly in newborns and are associated with testicular malignancy and infertility. As the inguinoscrotal phase of testis descent is androgen-dependent and requires integrity of the luteinizing hormone/chorionic gonadotropin receptor (LHCGR), we investigated whet...

journal_title：Pharmacogenetics and genomics

authors： Simoni M,Tüttelmann F,Michel C,Böckenfeld Y,Nieschlag E,Gromoll J

更新日期：2008-03-01 00:00:00

abstract：OBJECTIVE:To investigate if polymorphisms of some genes involved in folliculogenesis predict ovarian response. METHODS:This prospective randomized study includes 124 egg donors genotyped for six SNPs ESR1 (rs2234693), AMHR2 (rs2002555), GDF-9 (rs10491279 and rs254286), AMH (rs10407022) and LHCBR (rs229327) genes and f...

journal_title：Pharmacogenetics and genomics

authors： Lledó B,Llácer J,Blanco L,Ortiz JA,Morales R,Fabregat A,Guerrero J,Bernabeu R

更新日期：2019-11-01 00:00:00

abstract：:CYP2J2 and CYP2C8 metabolize arachidonic acid (AA) to cis-epoxyeicosatrienoic acids (EETs), which play a central role in regulating renal tubular fluid-electrolyte transport and vascular tone. We hypothesized that functionally relevant polymorphisms in the CYP2J2 or CYP2C8 genes influence hypertension risk. We examine...

journal_title：Pharmacogenetics and genomics

authors： King LM,Gainer JV,David GL,Dai D,Goldstein JA,Brown NJ,Zeldin DC

更新日期：2005-01-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to assess whether the CYP2C9*2 and/or *3 variants might modify the risk for NSAID-related upper gastrointestinal bleeding (UGIB) in NSAID users. PATIENTS AND METHODS:We conducted a multicenter, case-control study in which cases were patients aged more than 18 years with a diagnosis ...

journal_title：Pharmacogenetics and genomics

authors： Figueiras A,Estany-Gestal A,Aguirre C,Ruiz B,Vidal X,Carvajal A,Salado I,Salgado-Barreira A,Rodella L,Moretti U,Ibáñez L,EMPHOGEN group.

更新日期：2016-02-01 00:00:00

abstract：OBJECTIVE:Studies found a strong association between allopurinol-induced Stevens-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN) and the HLA-B*58:01 allele. HLA-B*58:01 screening-guided therapy may mitigate the risk of allopurinol-induced SJS/TEN. This study aimed to evaluate the cost-effectiveness of HLA-B*58:...

journal_title：Pharmacogenetics and genomics

authors： Chong HY,Lim YH,Prawjaeng J,Tassaneeyakul W,Mohamed Z,Chaiyakunapruk N

更新日期：2018-02-01 00:00:00

abstract：:We have identified the ATP-binding cassette (ABC) transporter ABCC4 as an active constituent of mediator-storing granules in human platelets. In addition to multidrug resistance protein 4, other ABC-type transport proteins may contribute to platelet secretory function as well as determine intended or adverse effects o...

journal_title：Pharmacogenetics and genomics

authors： Niessen J,Jedlitschky G,Grube M,Kawakami H,Kamiie J,Ohtsuki S,Schwertz H,Bien S,Starke K,Ritter C,Strobel U,Greinacher A,Terasaki T,Kroemer HK

更新日期：2010-06-01 00:00:00

abstract：OBJECTIVES:We aimed to assess a functional polymorphism in FCGR2A H131R, for association with the treatment response to Fc-containing inhibitors of tumor necrosis factor (TNF). METHODS:A total of 429 biologic-naive patients with rheumatoid arthritis collected in two sets (299 and 130) were treated during standard care...

journal_title：Pharmacogenetics and genomics

authors： Montes A,Perez-Pampin E,Narváez J,Cañete JD,Navarro-Sarabia F,Moreira V,Fernández-Nebro A,Del Carmen Ordóñez M,de la Serna AR,Magallares B,Vasilopoulos Y,Sarafidou T,Caliz R,Ferrer MA,Joven B,Carreira P,Gómez-Reino JJ,G

更新日期：2014-05-01 00:00:00

abstract：:Carboxylesterase 1 (CES1) is implicated in the metabolism of several commonly used drugs and other xenobiotics. The gene encoding this enzyme, CES1, is duplicated in some individuals. The original gene copy is called CES1A1. The duplicated version, CES1A2, is a hybrid of CES1A1 and the CES1-related pseudogene, CES1P1....

journal_title：Pharmacogenetics and genomics

authors： Bjerre D,Rasmussen HB,INDICES Consortium.

更新日期：2017-04-01 00:00:00

abstract：INTRODUCTION:Elevated plasma homocysteine (Hcy) concentration is an independent risk factor for cardiovascular disease, and its involvement in endothelial cell dysfunction is well established. However, the role of Hcy and folate in the pathogenesis of Parkinson's disease (PD) remains controversial. OBJECTIVES:The stud...

journal_title：Pharmacogenetics and genomics

authors： Białecka M,Kurzawski M,Roszmann A,Robowski P,Sitek EJ,Honczarenko K,Gorzkowska A,Budrewicz S,Mak M,Jarosz M,Gołąb-Janowska M,Koziorowska-Gawron E,Droździk M,Sławek J

更新日期：2012-10-01 00:00:00

abstract：BACKGROUND AND AIM:Genetic variants in the mammalian target of rapamycin (mTOR) gene have become an interesting topic for the study of genetic susceptibility to cancer, but their associations with the risk of gastric cancer have not been fully investigated. MATERIALS AND METHODS:In a hospital-based case-control study ...

journal_title：Pharmacogenetics and genomics

authors： Wang MY,Li QX,He J,Qiu LX,Wang YN,Li J,Sun MH,Wang XF,Yang YJ,Wang JC,Jin L,Wei QY

更新日期：2015-11-01 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：:Two recent screens for copy-number variations in the entire human genome found 12.4 gene copy number variations per person, including 2.5% of individuals with gains between 7q21.1 and 7q22.1, the chromosomal location of CYP3A4. CYP3A4 is involved in the metabolism of approximately 50% of all drugs, including many canc...

journal_title：Pharmacogenetics and genomics

authors： Lamba JK,Chen X,Lan LB,Kim JW,Wei Wang X,Relling MV,Kazuto Y,Watkins PB,Strom S,Sun D,Schuetz JD,Schuetz EG

更新日期：2006-06-01 00:00:00

abstract：OBJECTIVE:Several antiepileptic drugs (AEDs) are known to target the GABA(A) receptor through positive allosteric modulation of the receptors, thereby enhancing GABA(A) receptor-mediated inhibition. The large diversity of GABA(A) receptors has been reported in the central nervous system; some of these have been implica...

journal_title：Pharmacogenetics and genomics

authors： Balan S,Sathyan S,Radha SK,Joseph V,Radhakrishnan K,Banerjee M

更新日期：2013-11-01 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：: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：: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

abstract：OBJECTIVE:To describe the usage patterns of antidepressants with published CYP2D6- and CYP2C19-based prescribing guidelines among depressed primary care patients and estimate the proportion of patients taking antidepressants not recommended for them based on their CYP2C19 and CYP2D6 genotype-predicted metabolizer statu...

journal_title：Pharmacogenetics and genomics

authors： Jessel CD,Mostafa S,Potiriadis M,Everall IP,Gunn JM,Bousman CA

更新日期：2020-09-01 00:00:00

abstract：OBJECTIVE:The immunosuppressive drug tacrolimus requires strict therapeutic monitoring due to its narrow therapeutic index and great inter-individual variability. Cytochrome P450 3A4 (Cyp3A4) and Cyp3A5 are the most important contributors to tacrolimus metabolism while the P-glycoprotein pump (MDR-1) modulates its bioa...

journal_title：Pharmacogenetics and genomics

authors： Roy JN,Barama A,Poirier C,Vinet B,Roger M

更新日期：2006-09-01 00:00:00

abstract：OBJECTIVES:The emergency department (ED) is a challenging setting to conduct pharmacogenomic studies and integrate that data into fast-paced and potentially life-saving treatment decisions. Therefore, our objective is to present the methods and feasibility of a pilot pharmacogenomic study set in the ED that measured pe...

journal_title：Pharmacogenetics and genomics

authors： Fishe JN,Higley RK,Casey D,Hogans L,Wylie TW,Hendry PL,Henson M,Bertrand A,Blake KV

更新日期：2020-12-01 00:00:00

abstract：:The serotonin (5-HT) 1A receptor has been found to be dysregulated in prefrontal cortex and other brain regions in schizophrenia, and 5-HT1A receptor levels in the amygdala have been related to negative schizophrenia symptoms. We have assessed the impact of the functional C-1019G variant of the 5-HT1A receptor on the ...

journal_title：Pharmacogenetics and genomics

authors： Mössner R,Schuhmacher A,Kühn KU,Cvetanovska G,Rujescu D,Zill P,Quednow BB,Rietschel M,Wölwer W,Gaebel W,Wagner M,Maier W

更新日期：2009-01-01 00:00:00

abstract：:Heterotrimeric guanine-binding proteins (G proteins) transmit signals from the cell surface to intracellular signal cascades. The β3-subunit encoded by the gene GNB3 is widely expressed and, therefore, involved in various physiological and pathophysiological processes. A C825T polymorphism located in exon 10 of GNB3 w...

journal_title：Pharmacogenetics and genomics

authors： Klenke S,Kussmann M,Siffert W

更新日期：2011-09-01 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：: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