From Pharmacogenomic Knowledge Acquisition to Clinical Applications: The PharmGKB as a Clinical Pharmacogenomic Biomarker Resource

McDonagh, Ellen M.; Whirl‐Carrillo, Michelle; Garten, Yael; Altman, Russ B.; Klein, Teri E.

doi:10.2217/bmm.11.94

Cited by 144 publications

(128 citation statements)

References 15 publications

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“…With regard to the association found with CYP2C19, this enzyme has not been described to be associated with the immunosuppressive regimen (McDonagh et al, 2011); thus, there was a need for taking a deeper look into the concomitant drugs administered to our patients, to find any that could be related to CYP2C19. In this respect, the elevation of tacrolimus levels when it is administered concomitantly with omeprazole in patients with CYP2C19*2/*2 had previously been described in liver recipients (Hosohata et al, 2008;Hosohata et al, 2009a;Hosohata et al, 2009b) and in healthy volunteers and renal recipients Takahashi et al, 2007;Maguire et al, 2012).…”

Section: Discussionmentioning

confidence: 92%

Increased Hospital Stay and Allograft Disfunction in Renal Transplant Recipients with Cyp2c19 AA Variant in SNP rs4244285

et al. 2012

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Pharmacogenetics correlates certain genetic variants, such as single nucleotide polymorphisms (SNPs), with blood drug levels, efficacy, and adverse effects of the treatment. Tacrolimus is mainly metabolized via CYP3A4/5, whereas CYP2C19 and CYP3A4/5 are responsible for omeprazole metabolism. Omeprazole inhibits tacrolimus metabolism via CYP3A5 in patients carrying variant alleles of CYP2C19, increasing tacrolimus blood concentrations. Seventyfive renal transplant recipients treated with tacrolimus and concomitant omeprazole were genotyped in a panel of 37 SNPs with use of Sequenom MassArray. The patients with CYP2C19*2/*2 genotype (n = 4) showed a median posttransplantation hospital stay of 27.5 days (95% confidence interval [CI], 23-39 days), compared with 12 days (95% CI, 10-15 days) in patients with CYP2C19*1/*1 or CYP2C19*1/*2 (n = 71; P = 0.016, Kruskal-Wallis test).The difference in hospital stay was directly correlated with an increase in tacrolimus levels (C min /[dose/weight]) during the first week after trasplantation (in 59 patients with data on levels; P = 0.021, Kruskal-Wallis), excluding the patients with atypical metabolisms due to

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Section: Discussionmentioning

confidence: 92%

Increased Hospital Stay and Allograft Disfunction in Renal Transplant Recipients with Cyp2c19 AA Variant in SNP rs4244285

et al. 2012

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“…Eligible articles were original peer-reviewed studies focused on genetic variation in the following angiogenesis pathway genes: VEGFA, VEGFB, and FGF2, and/or genes that code for their direct interactors or receptors: fms-related tyrosine kinase 1 (FLT/VEGFR1), KDR (VEGFR2), neuropilin 1 (NRP1), and FGFR. These genes were selected from The Pharmacogenomics Knowledgebase website (4). We also included endostatin, the 20-kDa C-terminal fragment derived from type XVIII collagen that is a broad-spectrum antiangiogenic factor, which can affect both VEGF and FGF2 pathways and is coded by COL18A1.…”

Section: Study Inclusion and Exclusion Criteriamentioning

confidence: 99%

Vascular Endothelial Growth Factor Pathway Polymorphisms as Prognostic and Pharmacogenetic Factors in Cancer: A Systematic Review and Meta-analysis

Eng

Azad

Habbous

et al. 2012

Clinical Cancer Research

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Angiogenesis is an important host process that interacts with cancer cells to promote growth, invasion, and metastasis. Numerous therapeutic agents targeting the VEGF pathway have been developed. Host variability in VEGF pathway can influence angiogenesis-dependent signaling, altering sensitivity to antiangiogenic drugs and prognosis. A systematic review and meta-analysis was conducted (May 1990–July 2011). Eligible studies involved cancer patients and compared polymorphisms in the VEGF pathway [VEGF and molecules directly interacting with VEGF: KDR, FLT1, FGF, FGF2, FGFR, NRP1, endostatin (encoded by COL18A1)], and reported one of the following outcomes: overall survival, progression-free survival, time to recurrence, disease-free survival, response rate, or drug toxicity. We identified 48 cancer studies assessing prognosis and 12 cancer studies exploring pharmacogenetics of anti-VEGF therapy across various VEGF pathway polymorphisms. There was marked inter- and intradisease site heterogeneity in the effect of polymorphisms on both outcome and response to therapy. Meta-analyses of 5 VEGF polymorphisms (+936C>T, −460T>C, +405G>C, −1154G>A, and −2578C>A) identified a significant prognostic relationship: VEGF +405G>C variants showed a highly statistically significant improvement in overall survival [HR, 0.74; 95% confidence interval, 0.60–0.91; P = 0.004]. Variants (heterozygotes and/or homozygotes) of VEGF +405G>C were significantly associated with improved survival in a meta-analysis of multiple cancer sites. Clin Cancer Res; 18(17); 4526–37. ©2012 AACR.

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“…Among many variants, C3435T (rs1045642) in exon 26 (Ile1145Ile); G2677T/A (rs2032582) in exon 21 (Ala893Ser/Thr) and C1236T (rs1128503) in exon 12 (Gly412Gly) are more frequent than other SNPs [5] and have been shown to affect the expression and function of Pgp [6][7][8]. These three SNPs have been the focus of many pharmacokinetic and disease association studies with controversial results [9]. The variant alleles of the three most common coding SNPs, at nucleotides 1236, 2677 and 3435 are in high Linkage disequilibrium as has been commonly found in multiple studies [4,9], and most haplotype analyse were carried out using these three SNPs.…”

Section: Introductionmentioning

confidence: 99%

Genotype and Haplotype Analysis of <i>ABCB1</i> at 1236, 2677 and 3435 among Jordanian Population

Al-Diab¹,

Yousef²,

Manassrah³

et al. 2015

Trop. J. Pharm Res

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C1236T, G2677T/A, and C3435T SNPs were expected to be structured in 8 different haplotypes with G-C-C (37.6.0 %), T-T-T (18.6 %), G-C-T (14.3 %) and T-T-C (12 %) that were most prominent. The haplotype frequency distribution of our study group was found to be significantly different from those of Chinese, Indian, Japanese, African and Caucasian (p < 0.0001) and resemble Ashkenazi Jewish and Slovenian populations (p > 0.05

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From Pharmacogenomic Knowledge Acquisition to Clinical Applications: The PharmGKB as a Clinical Pharmacogenomic Biomarker Resource

Cited by 144 publications

References 15 publications

Increased Hospital Stay and Allograft Disfunction in Renal Transplant Recipients with Cyp2c19 AA Variant in SNP rs4244285

Increased Hospital Stay and Allograft Disfunction in Renal Transplant Recipients with Cyp2c19 AA Variant in SNP rs4244285

Vascular Endothelial Growth Factor Pathway Polymorphisms as Prognostic and Pharmacogenetic Factors in Cancer: A Systematic Review and Meta-analysis

Genotype and Haplotype Analysis of <i>ABCB1</i> at 1236, 2677 and 3435 among Jordanian Population

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