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Pharmacogenomics Journal

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https://www.readbyqxmd.com/read/28418012/cyp3a4-is-a-crosslink-between-vitamin-d-and-calcineurin-inhibitors-in-solid-organ-transplant-recipients-implications-for-bone-health
#1
REVIEW
A Prytuła, K Cransberg, A Raes
The use of calcineurin inhibitors (CNIs) and vitamin D deficiency may contribute to the pathogenesis of post-transplant bone disease. CNIs and 1,25-dihydroxyvitamin D₃ (1,25(OH)2D3) are substrates of the drug-metabolizing enzyme CYP3A4. This review summarizes the indications for the use of activated vitamin D analogs in post-transplant care and the current knowledge on the impact of CNIs on bone. We searched for clinical evidence of the interaction between CNIs and 1,25(OH)2D3. We also provide an overview of the literature on the interplay between vitamin D metabolism and CYP3A4 in experimental and clinical settings and discuss its possible implications for solid organ transplant recipients...
April 18, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28418011/more-than-25-years-of-genetic-studies-of-clozapine-induced-agranulocytosis
#2
REVIEW
S A J de With, S L Pulit, W G Staal, R S Kahn, R A Ophoff
Clozapine is one of the most effective atypical antipsychotic drugs prescribed to patients with treatment-resistant schizophrenia. Approximately 1% of patients experience potential life-threatening adverse effects in the form of agranulocytosis, greatly hindering its applicability in clinical practice. The etiology of clozapine-induced agranulocytosis (CIA) remains unclear, but is thought to be a heritable trait. We reviewed the genetic studies of CIA published thus far. One recurrent finding from early candidate gene study to more recent genome-wide analysis is that of the involvement of human leukocyte antigen locus...
April 18, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28418010/interaction-between-nudt15-and-abcc4-variants-enhances-intolerability-of-6-mercaptopurine-in-japanese-patients-with-childhood-acute-lymphoblastic-leukemia
#3
Y Tanaka, H Nakadate, K Kondoh, K Nakamura, K Koh, A Manabe
6-Mercaptopurine (6-MP) is a main component of childhood acute lymphoblastic leukemia (ALL) treatment. Some candidate gene variants are associated with its toxicities, but the major variants and effects of combined variants remain unclear. We used Cox regression analysis to evaluate the time-dependent association between candidate variants and the cumulative incidence of 6-MP intolerability in 95 Japanese patients. The major risk factors for severe leukopenia were ABCC4 rs3765534, NUDT15 rs116855232 and rs186364861 in multi-covariate analysis (P<0...
April 18, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28418009/effect-of-umod-genotype-on-long-term-graft-survival-after-kidney-transplantation-in-patients-treated-with-cyclosporine-based-therapy
#4
E Abdel-Hady Algharably, J Beige, R Kreutz, J Bolbrinker
The genetic rs12917707-G>T variant in uromodulin (UMOD) has been associated with renal function, chronic kidney disease and hypertension with the minor T-allele showing a protective effect. Hypertension and nephrotoxicity are adverse effects of chronic cyclosporine treatment. We tested whether UMOD rs12917707-T in donor kidneys associates with long-term graft survival in 393 Caucasian patients with stable graft function for more than 10 weeks after kidney transplantation treated with a cyclosporine-based maintenance therapy (mean graft survival 9 years)...
April 18, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28398356/snp-based-hla-allele-tagging-imputation-and-association-with-antiepileptic-drug-induced-cutaneous-reactions-in-hong-kong-han-chinese
#5
H Gui, M Kwok, L Baum, P C Sham, P Kwan, S S Cherny
Human leukocyte antigen (HLA) genes control the regulation of the human immune system and are involved in immune-related diseases. Population surveys on relationships between single nucleotide polymorphisms (SNP) and HLA alleles are essential to conduct genetic association between HLA variants and diseases. Samples were obtained from our in-house database for epilepsy genetics and pharmacogenetics research. Using 184 epilepsy patients with both genome-wide SNP array and HLA-A/B candidate gene sequencing data, we sought tagging SNPs that completely represent sixHLA risk alleles; in addition, a Hong Kong population-specific reference panel was constructed for SNP-based HLA imputation...
April 11, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28398355/prognostic-impact-of-foxf1-polymorphisms-in-gastric-cancer-patients
#6
S Matsusaka, A H Wu, S Cao, D L Hanna, K Chin, D Yang, W Zhang, Y Ning, S Stintzing, A Sebio, Y Sunakawa, S Stremitzer, S Yamauchi, S Okazaki, M D Berger, A Parekh, Y Miyamoto, N Mizunuma, H-J Lenz
A recent genome-wide association study identified seven single-nucleotide polymorphisms (SNPs) in region 16q24, near the Forkhead box-F1 (FOXF1) gene, which confer susceptibility to esophageal adenocarcinoma. We examined whether these SNPs are associated with clinical outcomes in gastric cancer (GC) patients in Japan and the United States. A total of 362 patients were included in this study: 151 Japanese GC patients treated with first-line S1 plus CDDP (training cohort) and 211 GC patients from Los Angeles County (LAC; validation cohort)...
April 11, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28398354/global-genetic-variation-of-select-opiate-metabolism-genes-in-self-reported-healthy-individuals
#7
F R Wendt, G Pathak, A Sajantila, R Chakraborty, B Budowle
CYP2D6 is a key pharmacogene encoding an enzyme impacting poor, intermediate, extensive and ultrarapid phase I metabolism of many marketed drugs. The pharmacogenetics of opiate drug metabolism is particularly interesting due to the relatively high incidence of addiction and overdose. Recently, trans-acting opiate metabolism and analgesic response enzymes (UGT2B7, ABCB1, OPRM1 and COMT) have been incorporated into pharmacogenetic studies to generate more comprehensive metabolic profiles of patients. With use of massively parallel sequencing, it is possible to identify additional polymorphisms that fine tune, or redefine, previous pharmacogenetic findings, which typically rely on targeted approaches...
April 11, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28374859/influence-of-arginase-polymorphisms-and-arginase-levels-activity-on-the-response-to-erectile-dysfunction-therapy-with-sildenafil
#8
R Lacchini, J J Muniz, Y T D A Nobre, A J Cologna, A C P Martins, J E Tanus-Santos
Arginase 1 (ARG1) and arginase 2 (ARG2) compete with nitric oxide synthases for the substrate l-arginine. Here we aim to assess whether arginase 1 and 2 plasma levels, plasma arginase activity or genetic factors are associated with altered responsiveness to sildenafil. We studied 71 post-prostatectomy erectile dysfunction (ED) patients (PED group) and 72 clinical ED patients (CED). Patients responded to the International Index of Erectile Function questionnaire before and after the treatment. We found positive and negative correlations between plasma levels of arginase 1 and sildenafil responsiveness in the PED and CED groups, respectively...
April 4, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28374858/sulfotransferase-1a3-4-copy-number-variation-is-associated-with-neurodegenerative-disease
#9
N J Butcher, M K Horne, G D Mellick, C J Fowler, C L Masters, R F Minchin
The cytosolic aryl sulfotransferase genes SULT1A3 and SULT1A4 are located on chromosome 16p11.2 in a region of chromosomal instability. SULT1A3/4 are important enzymes in the metabolism of catecholamines linked to neurodegenerative diseases such as Parkinson's and Alzheimer's. In the present study, copy number variation of the SULT1A3/4 genes in healthy individuals, as well as a cohort of Parkinson's disease and Alzheimer's disease patients was examined. In all subjects, SULT1A3/4 copy number varied from 1 to 10...
April 4, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28349930/pharmacogenetics-of-posttransplant-diabetes-mellitus
#10
REVIEW
P Lancia, T Adam de Beaumais, E Jacqz-Aigrain
Many factors (physiological, pathological, environmental or genetic) are associated with variability in drug effect. Most patients respond to a standard treatment but the drug may be ineffective or toxic. In this review, we focused on genetic markers of posttransplant diabetes mellitus (PTDM) after renal transplantation, a frequent complication of immunosuppressive therapy and important risk factor of graft loss and mortality. An initial literature search identified 100 publications and among them 32 association studies were retrieved under 'Pharmacogenetics and PTDM'...
March 28, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28290528/nicotine-dependence-is-associated-with-functional-variation-in-fmo3-an-enzyme-that-metabolizes-nicotine-in-the-brain
#11
A M Teitelbaum, S E Murphy, G Akk, T B Baker, A Germann, L B von Weymarn, L J Bierut, A Goate, E D Kharasch, A J Bloom
A common haplotype of the flavin-containing monooxygenase gene FMO3 is associated with aberrant mRNA splicing, a twofold reduction in in vivo nicotine N-oxidation and reduced nicotine dependence. Tobacco remains the largest cause of preventable mortality worldwide. CYP2A6, the primary hepatic nicotine metabolism gene, is robustly associated with cigarette consumption but other enzymes contribute to nicotine metabolism. We determined the effects of common variants in FMO3 on plasma levels of nicotine-N-oxide in 170 European Americans administered deuterated nicotine...
March 14, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28139755/genetically-determined-high-activity-of-il-12-and-il-18-in-ulcerative-colitis-and-tlr5-in-crohns-disease-were-associated-with-non-response-to-anti-tnf-therapy
#12
S Bank, P S Andersen, J Burisch, N Pedersen, S Roug, J Galsgaard, S Y Turino, J B Brodersen, S Rashid, B K Rasmussen, S Avlund, T B Olesen, H J Hoffmann, B A Nexø, J Sode, U Vogel, V Andersen
Anti-tumour necrosis factor-α (TNF-α) is used for treatment of severe cases of inflammatory bowel diseases (IBD), including Crohn's disease (CD) and ulcerative colitis (UC). However, one-third of the patients do not respond to the treatment. A recent study indicated that genetically determined high activity of pro-inflammatory cytokines, including interleukin-1β (IL-1β), IL-6 and interferon gamma (IFN-γ), are associated with non-response to anti-TNF therapy. Using a candidate gene approach, 21 functional single-nucleotide polymorphisms (SNPs) in 14 genes in the Toll-like receptors, the inflammasome and the IFNG pathways were assessed in 482 and 256 prior anti-TNF naïve Danish patients with CD and UC, respectively...
January 31, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/27779243/pharmacogenomic-implications-of-the-evolutionary-history-of-infectious-diseases-in-africa
#13
REVIEW
J L Baker, D Shriner, A R Bentley, C N Rotimi
As the common birthplace of all human populations, modern humans have lived longer on the African continent than in any other geographical region of the world. This long history, along with the evolutionary need to adapt to environmental challenges such as exposure to infectious agents, has led to greater genetic variation in Africans. The vast genetic variation in Africans also extends to genes involved in the absorption, distribution, metabolism and excretion of pharmaceuticals. Ongoing cataloging of these clinically relevant variants reveals huge allele-frequency differences within and between African populations...
March 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/27698402/tamoxifen-metabolism-in-breast-cancer-treatment-taking-the-focus-off-the-cyp2d6-gene
#14
A Novillo, A Romero-Lorca, M Gaibar, M Rubio, A Fernández-Santander
No abstract text is available yet for this article.
March 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/26927288/association-of-hla-b-15-13-and-hla-b-15-02-with-phenytoin-induced-severe-cutaneous-adverse-reactions-in-a-malay-population
#15
C-C Chang, C-C Ng, C-L Too, S-E Choon, C-K Lee, W-H Chung, S H Hussein, K-S Lim, S Murad
Phenytoin (PHT) is a common cause of severe cutaneous adverse reactions (SCARs), including Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN) and drug reaction with eosinophilia and systemic symptoms (DRESS). Although HLA-B*15:02 is associated with PHT-induced SJS/TEN (PHT-SJS/TEN) in Han Chinese and Thais, the genetic basis for susceptibility to PHT-induced SCARs (PHT-SCAR) in other populations remains unclear. We performed a case-control association study by genotyping the human leukocyte antigen (HLA)-B alleles of 16 Malay PHT-SCAR patients (13 SJS/TEN and 3 DRESS), 32 PHT-tolerant controls and 300 healthy ethnicity-matched controls...
March 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/26927285/a-pharmacogenetic-investigation-of-intravenous-furosemide-in-decompensated-heart-failure-a-meta-analysis-of-three-clinical-trials
#16
S de Denus, J L Rouleau, D L Mann, G S Huggins, T P Cappola, S H Shah, J Keleti, Y F Zada, S Provost, A Bardhadi, M S Phillips, V Normand, I Mongrain, M-P Dubé
We conducted a meta-analysis of pharmacogenomic substudies of three randomized trials conducted in patients with decompensated heart failure (HF) that were led by National Heart Lung and Blood Institute (NHLBI)-funded HF Network to test the hypothesis that candidate genes modulate net fluid loss and weight change in patients with decompensated HF treated with a furosemide-based diuretic regimen. Although none of the genetic variants previously shown to modulate the effects of loop diuretics in healthy individuals were associated with net fluid loss after 72 h of treatment, a set of rare variants in the APOL1 gene, which codes for apolipoprotein L1 (P=0...
March 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/26902540/health-regulatory-communications-of-well-established-safety-related-pharmacogenomics-associations-in-six-developed-countries-an-evaluation-of-alignment
#17
W C Tan-Koi, Evelyn S H Lim, Y Y Teo
Recommendations on genetic testing are typically conveyed by drug regulatory authorities through drug labels, which are legal requirements for market authorization of drugs. We conducted a cross-sectional study of drug labels focusing on three crucial aspects of regulatory pharmacogenomics communications: (i) intent; (ii) interpretation in the local context; and (iii) implications of the genetic information. Labels of drugs associated with well-established safety-related genetic markers for adverse drug reactions across six developed countries of United States, Canada, United Kingdom, Australia, New Zealand and Singapore were reviewed...
March 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/26902539/the-effect-of-genetic-variation-in-pcsk9-on-the-ldl-cholesterol-response-to-statin-therapy
#18
Q Feng, W Q Wei, C P Chung, R T Levinson, L Bastarache, J C Denny, C M Stein
Statins (HMG-CoA reductase inhibitors) lower low-density lipoprotein cholesterol (LDL-C) and prevent cardiovascular disease. However, there is wide individual variation in LDL-C response. Drugs targeting proprotein convertase subtilin/kexin type 9 (PCSK9) lower LDL-C and will be used with statins. PCSK9 mediates the degradation of LDL receptors (LDLRs). Therefore, a greater LDL-C response to statins would be expected in individuals with PCSK9 loss-of-function (LOF) variants because LDLR degradation is reduced...
March 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/26902538/role-of-the-c1858t-polymorphism-of-protein-tyrosine-phosphatase-non-receptor-type-22-ptpn22-in-children-and-adolescents-with-type-1-diabetes
#19
A Blasetti, C Di Giulio, S Tumini, M Provenzano, D Rapino, L Comegna, G Prezioso, R Chiuri, S Franchini, F Chiarelli, L Stuppia
In recent years, increasing interest has been devoted to the susceptibility gene polymorphisms in type 1 diabetes (T1D) as well as in other autoimmune diseases. Among these, a nucleotide polymorphism of the gene encoding for the protein tyrosine phosphatase non-receptor type 22 (PTPN22) has been associated with T1D in several studies. The aim of this study is to define the frequency of the C1858T polymorphism in the PTPN22 gene in a cohort of 113 Caucasian patients (58 males and 55 females) with T1D, and to assess a possible correlation with a group of clinically relevant variables: age at onset, gender, diabetes-related autoantibodies, residual β-cell function and daily insulin requirement (IR) 6 months after diagnosis...
March 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/26882121/a-pharmacogenomic-study-on-the-pharmacokinetics-of-tacrolimus-in-healthy-subjects-using-the-dmet-tm-plus-platform
#20
Y Choi, F Jiang, H An, H J Park, J H Choi, H Lee
Genetic association studies on the pharmacokinetics of tacrolimus have reported conflicting results, except for the role of the CYP3A5*3 polymorphism. The objective of this study was to identify genetic variants affecting the pharmacokinetics of tacrolimus using the DMET(TM) Plus microarray in 42 healthy males. Aside from CYP3A5*3, the rs3814055 polymorphism in the NR1I2 gene was associated with the tacrolimus pharmacokinetics based on false discovery rate-corrected multiple tests and the least absolute shrinkage and selection operator analysis...
March 2017: Pharmacogenomics Journal
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