Pharmacogeomic implications of population diversity in Latin America: TPMT and NUDT15 polymorphisms and thiopurine dosing.

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：OBJECTIVES:Controversy exists regarding the effects of polymorphisms in the endothelial nitric oxide synthase (eNOS) gene on nitrites/nitrates (NOx) plasma concentrations. In this study we compared the distribution of haplotypes involving three relevant eNOS polymorphisms (T-786C in the promoter region; b/a in intron 4...

journal_title：Pharmacogenetics and genomics

authors： Metzger IF,Souza-Costa DC,Marroni AS,Nagassaki S,Desta Z,Flockhart DA,Tanus-Santos JE

更新日期：2005-08-01 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：OBJECTIVES:Immediate reactions - particularly anaphylactic ones - to betalactams are the most common adverse reactions to antibiotics mediated by a specific immunologic mechanism. The genetic risk factors influencing these mechanisms are poorly known. We aimed to evaluate the association between immediate allergic reac...

journal_title：Pharmacogenetics and genomics

authors： Guéant-Rodriguez RM,Romano A,Béri-Dexheimer M,Viola M,Gaeta F,Guéant JL

更新日期：2006-10-01 00:00:00

abstract：:Asthma is the leading chronic disease in children. Several studies have identified genetic biomarkers associated with susceptibility and severity in both adult and pediatric cases. In this study, we evaluated outcomes in 400 African American and European American pediatric cases all of whom were regular users of inhal...

journal_title：Pharmacogenetics and genomics

authors： Sood N,Connolly JJ,Mentch FD,Vazquez L,Sleiman PMA,Hysinger EB,Hakonarson H,eMERGE Outcomes Workgroup.

更新日期：2018-11-01 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：OBJECTIVE:The present study was designed to investigate whether genetic polymorphisms of the aryl hydrocarbon receptor (AHR) signaling pathway are involved in the molecular basis of essential hypertension (EH). METHODS:A total of 2160 unrelated Russian individuals comprising 1341 EH patients and 819 healthy controls w...

journal_title：Pharmacogenetics and genomics

authors： Polonikov AV,Bushueva OY,Bulgakova IV,Freidin MB,Churnosov MI,Solodilova MA,Shvetsov YD,Ivanov VP

更新日期：2017-02-01 00:00:00

abstract：OBJECTIVE:To investigate the utility of statistical tools in translating Affymetrix Drug Metabolizing Enzyme and Transporter (DMET) Assay single-nucleotide polymorphisms (SNPs) into common consensus star alleles. METHODS:DMET SNP data from clinical trials in different ethnicities were pooled for analyses. Three differ...

journal_title：Pharmacogenetics and genomics

authors： Guo Y,Farmen MW,Jin Y,Lee HY,Penny MA,Hillgren KM,Fossceco SL

更新日期：2014-06-01 00:00:00

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：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: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：OBJECTIVES:Epidemiological studies documented associations between single nucleotide polymorphisms (SNPs) in the nucleotide excision repair gene XPD/ERCC2 and cancer risk. Little is known, however, about the underlying mechanisms for these associations. We explored a novel mechanism that could further explain the repor...

journal_title：Pharmacogenetics and genomics

authors： Wolfe KJ,Wickliffe JK,Hill CE,Paolini M,Ammenheuser MM,Abdel-Rahman SZ

更新日期：2007-11-01 00:00:00

abstract：BACKGROUND/OBJECTIVES:The zeta-1 family isoform of GST biotransforms the investigational drug dichloroacetate (DCA) and certain other halogenated carboxylic acids. Haplotype variability in GSTZ1 influences the kinetics and, possibly, the toxicity of DCA. DCA metabolism correlates with expression of the GSTZ1 protein, s...

journal_title：Pharmacogenetics and genomics

authors： Langaee TY,Zhong G,Li W,Hamadeh I,Solayman MH,McDonough CW,Stacpoole PW,James MO

更新日期：2015-05-01 00:00:00

abstract：OBJECTIVE:We investigated the association of single nucleotide polymorphisms (SNPs) in drug-metabolizing enzymes and transporters (DMETs) with the response to azathioprine (AZA) in patients affected by myasthenia gravis (MG) to determine possible genotype-phenotype correlations. PATIENTS AND METHODS:Genomic DNA from 1...

journal_title：Pharmacogenetics and genomics

authors： Colleoni L,Galbardi B,Barzago C,Bonanno S,Franzi S,Frangiamore R,Camera G,Foti M,Biancolini D,Canioni E,Maggi L,Antozzi C,Mantegazza R,Bernasconi P,Kapetis D

更新日期：2017-02-01 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: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:Lung cancer, particularly the non-small-cell lung cancer (NSCLC) subtype, is the leading cause of cancer-related death worldwide. Several functional polymorphisms in inflammatory cytokine genes, such as IL1B, IL6, IL12A, IL13 and IL16, have been associated with the risk of NSCLC. The aim of this study was to ...

journal_title：Pharmacogenetics and genomics

authors： Pérez-Ramírez C,Alnatsha A,Cañadas-Garre M,Villar E,Valdivia-Bautista J,Faus-Dáder MJ,Calleja-Hernández MÁ

更新日期：2017-12-01 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:Glucocorticoids are used universally in the remission induction therapy for acute lymphoblastic leukemia (ALL). One of the adverse effects of glucocorticoids is hypertension. Our aim was to define the frequency of and clinical and genetic risk factors for steroid-induced hypertension. METHODS:We determined t...

journal_title：Pharmacogenetics and genomics

authors： Kamdem LK,Hamilton L,Cheng C,Liu W,Yang W,Johnson JA,Pui CH,Relling MV

更新日期：2008-06-01 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:Human novel oxidoreductase 1 (NDOR1) is a diflavin reductase closely related to cytochrome P450 reductase (POR) and nitric oxide synthase (NOS), which are involved in the metabolism of antitumour agents. A variant cDNA sequence of NDOR1, NDOR1 p.518-519ins9 or NDOR1_v1, has been deposited in GenBank (accessi...

journal_title：Pharmacogenetics and genomics

authors： Finn RD,Wilkie M,Smith G,Paine MJ

更新日期：2005-06-01 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：:Recent investigations suggest genetic susceptibility of allopurinol-induced severe cutaneous adverse reactions (SCARs). However, the strength of association was variable according to phenotypes and ethnic backgrounds. To explore genetic markers for allopurinol-induced SCARs in Koreans, we genotyped human leukocyte ant...

journal_title：Pharmacogenetics and genomics

authors： Kang HR,Jee YK,Kim YS,Lee CH,Jung JW,Kim SH,Park HW,Chang YS,Jang IJ,Cho SH,Min KU,Kim SH,Lee KW,Adverse Drug Reaction Research Group in Korea.

更新日期：2011-05-01 00:00:00

abstract：BACKGROUND AND OBJECTIVES:Quetiapine is an atypical antipsychotic drug used to treat schizophrenia and acute episodes of mania. Quetiapine is metabolized by CYP3A enzymes including CYP3A5 and is a substrate of P-glycoprotein, an efflux drug transporter encoded by the ABCB1 gene. We assessed the effects of ABCB1 [c.1236...

journal_title：Pharmacogenetics and genomics

authors： Kim KA,Joo HJ,Lee HM,Park JY

更新日期：2014-01-01 00:00:00

abstract：OBJECTIVES:To evaluate whether ABCC2 gene polymorphisms are associated with expression and/or function of the efflux pump. METHODS:We investigated the allele frequency of ABCC2 -24C>T, -23G>A, c.1249G>A, c.1446C>G, c.1457C>T, c.2302C>T, c.2366C>T, c.3542G>T, c.3561G>A, c.3563T>A, c.3972C>T, c.4348G>A, and 4544G>A in 3...

journal_title：Pharmacogenetics and genomics

authors： Haenisch S,May K,Wegner D,Caliebe A,Cascorbi I,Siegmund W

更新日期：2008-04-01 00:00:00

abstract：:Genome-wide studies have identified single nucleotide polymorphisms associated with smoking behaviour and nicotine dependence. Less is known about genetic determinants of smoking cessation, but rs4680 in COMT has recently been shown to explain a substantial proportion of the variation in cessation in the general popul...

journal_title：Pharmacogenetics and genomics

authors： Breitling LP,Dahmen N,Illig T,Rujescu D,Nitz B,Raum E,Winterer G,Rothenbacher D,Brenner H

更新日期：2009-08-01 00:00:00

abstract：:Lipid changes with statin treatments vary greatly between individuals for reasons which are largely unknown. This study was performed to examine the genetic determinants of lipid responses to rosuvastatin in Chinese patients. A total of 125 polymorphisms in 61 candidate genes from 386 Chinese patients were analyzed fo...

journal_title：Pharmacogenetics and genomics

authors： Hu M,Lui SS,Mak VW,Chu TT,Lee VW,Poon EW,Tsui TK,Ko GT,Baum L,Tam LS,Li EK,Tomlinson B

更新日期：2010-10-01 00:00:00

abstract：BACKGROUND/AIMS:Several single-nucleotide polymorphisms (SNPs) in the catechol-O-methyltransferase (COMT) gene have been associated with the risk of developing Parkinson's disease (PD). We conducted a systematic review and a meta-analysis including all the studies published on PD risk related with COMT SNPs (mainly rs4...

journal_title：Pharmacogenetics and genomics

authors： Jiménez-Jiménez FJ,Alonso-Navarro H,García-Martín E,Agúndez JA

更新日期：2014-07-01 00:00:00

abstract：INTRODUCTION:Efavirenz is primarily metabolized by CYP2B6, with a minor contribution from CYP1A2, CYP2A6, CYP3A4 and CYP3A5. Genetic variability in these genes contributes towards differences in plasma efavirenz concentration, which ultimately leads to either development of adverse drug events or emergence of virus res...

journal_title：Pharmacogenetics and genomics

authors： Swart M,Skelton M,Ren Y,Smith P,Takuva S,Dandara C

更新日期：2013-08-01 00:00:00

abstract：OBJECTIVES:This study investigated the involvement of ADH4 gene polymorphisms in the susceptibility to alcohol use disorders. METHODS:Thirty-eight single-nucleotide polymorphisms (SNPs) in and around the ADH4 gene were investigated in 136 Italian alcoholics and 276 healthy controls. A new approach based on a bioinform...

journal_title：Pharmacogenetics and genomics

authors： Turchi C,Piva F,Solito G,Principato G,Buscemi L,Tagliabracci A

更新日期：2012-02-01 00:00:00