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Pharmacogenetics and Genomics

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https://www.readbyqxmd.com/read/29329142/whole-genome-methylation-profiling-of-peripheral-blood-mononuclear-cell-for-acute-exacerbations-of-chronic-obstructive-pulmonary-disease-treated-with-corticosteroid
#1
Shih-Wei Lee, Julia Tzu-Ya Weng, Paul Wei-Che Hsu, Tzu-Yi Chuang, Chih-Wei Liu, Chung-Hsuan Chen, Lawrence Shih-Hsin Wu
OBJECTIVE: Although association studies in the general population may be relevant for determining susceptibility to chronic obstructive pulmonary disease (COPD), they may be less applicable for pharmacogenetics research in participants who have already acquired the disease. PATIENTS AND METHODS: A genome-wide methylation profiling (generated by HumanMethylation450 BeadChips study was performed on peripheral blood mononuclear cells of 24 patients with AECOPD (acute exacerbation COPD), with good and poor responsiveness to standard corticosteroid treatment...
January 10, 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29256966/influence-of-donor-liver-cyp3a4-20-loss-of-function-genotype-on-tacrolimus-pharmacokinetics-in-transplanted-patients
#2
Miguel A Gómez-Bravo, María Apellaniz-Ruiz, Magdalena Salcedo, Constantino Fondevila, Francisco Suarez, José Castellote, Sebastián Rufian, José A Pons, Itxarone Bilbao, José M Alamo, Olga Millán, Mercè Brunet, Cristina Rodríguez-Antona
OBJECTIVE: Cytochrome P450 3A4 (CYP3A4) metabolizes about half of all drugs on the market; however, the impact of CYP3A4 loss-of-function variants on drug exposures remains poorly characterized. Here, we report the effect of the CYP3A4*20 frameshift allele in two Spanish liver transplant patients treated with tacrolimus. PATIENTS AND METHODS: A series of 90 transplanted patients (with DNA available for 89 of the recipients and 76 of the liver donors) treated with tacrolimus were included in the study...
December 18, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29239905/specific-association-of-the-rs6500265-and-rs9933632-single-nucleotide-polymorphisms-in-japanese-patients-with-antipyretic-analgesic-related-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis-with-severe-ocular-involvements
#3
Yoshimi Okamoto-Uchida, Ryosuke Nakamura, Kayoko Matsunaga, Michiko Aihara, Yoshiro Saito
A recent study using the microarray for single-nucleotide polymorphisms (SNPs) genotyping specifically designed for the Japanese population in combination with genome-wide imputation showed the association of several SNPs with cold medicine-related Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) with severe ocular complications. However, it remains to be determined whether these polymorphisms are associated with the onset of antipyretic analgesic (AA)-related SJS/TEN, the progression of severe ocular involvements (SOIs), or both AA-related SJS/TEN and SOI phenotypes...
December 12, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29232306/differential-effect-of-abcb1-haplotypes-on-promoter-activity
#4
Jordan T Speidel, Meixiang Xu, Sherif Z Abdel-Rahman
OBJECTIVE: Promoter single-nucleotide polymorphisms (SNPs) of the ABCB1 gene, encoding the placental efflux transporter P-glycoprotein, can affect its expression and alter xenobiotic transfer from the maternal to the fetal circulation. Because SNPs are arranged in specific combinations as defined haplotypes, the aims of this study were to: (i) determine the placental haplotype structure of the ABCB1 promoter and (ii) determine the differential effect of these haplotypes on placental ABCB1 promoter activity...
December 11, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29200408/angiotensin-converting-enzyme-activity-in-cavalier-king-charles-spaniels-with-an-ace-gene-polymorphism-and-myxomatous-mitral-valve-disease
#5
Kathryn M Meurs, Lisbeth H Olsen, Maria J Reimann, Bruce W Keene, Clarke E Atkins, Darcy Adin, Brent Aona, Julia Condit, Teresa DeFrancesco, Yamir Reina-Doreste, Joshua A Stern, Sandra Tou, Jessica Ward, Kathleen Woodruff
OBJECTIVES: Myxomatous mitral valve disease (MMVD) is the most common heart disease in the dog. It is particularly common in the Cavalier King Charles Spaniel (CKCS) breed and affected dogs are frequently managed with angiotensin-converting enzyme inhibitors (ACE-I). We have previously identified a canine ACE gene polymorphism associated with a decrease in angiotensin-converting enzyme (ACE) activity. The aim of this study was to evaluate for the prevalence of the ACE polymorphism in CKCS with mitral valve disease and to determine whether the presence of the polymorphism is associated with alterations in ACE activity at different stages of cardiac disease...
December 1, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29176400/cost-effectiveness-analysis-of-hla-b-58-01-genetic-testing-before-initiation-of-allopurinol-therapy-to-prevent-allopurinol-induced-stevens-johnson-syndrome-toxic-epidermal-necrolysis-in-a-malaysian-population
#6
Huey Yi Chong, Yi Heng Lim, Juthamas Prawjaeng, Wichittra Tassaneeyakul, Zahurin Mohamed, Nathorn Chaiyakunapruk
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*58:01 screening before allopurinol therapy initiation compared with the current practice of no screening for Malaysian patients with chronic gout in whom a hypouricemic agent is indicated...
November 24, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29189588/a-randomized-phase-ii-study-of-s-1-versus-capecitabine-as-first-line-chemotherapy-in-elderly-metastatic-gastric-cancer-patients-with-or-without-poor-performance-status-clinical-and-pharmacogenetic-results
#7
Mi-Jung Kim, Sun-Young Kong, Byung-Ho Nam, Sohee Kim, Young-Iee Park, Sook Ryun Park
OBJECTIVE: This study investigated the efficacy and safety of S-1 versus capecitabine in elderly patients with metastatic gastric cancer (MGC), and examined the association between cytochrome P450 2A6 (CYP2A6) polymorphisms and treatment outcomes. MATERIALS AND METHODS: MGC patients 70-85 years old with Eastern Cooperative Oncology Group performance status 0-2 or 65-70 years old with Eastern Cooperative Oncology Group performance status 2 were randomized to receive S-1 40 mg/m, twice daily, or capecitabine 1250 mg/m, twice daily, on days 1-14 every 3 weeks...
November 17, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29117017/race-ethnicity-difference-in-the-pharmacogenetics-of-bilirubin-related-atazanavir-discontinuation
#8
Paul Leger, Sanika Chirwa, Jacinta N Nwogu, Megan Turner, Danielle M Richardson, Paxton Baker, Michael Leonard, Husamettin Erdem, Lana Olson, David W Haas
BACKGROUND: Atazanavir causes plasma indirect bilirubin to increase. We evaluated associations between Gilbert's polymorphism and bilirubin-related atazanavir discontinuation stratified by race/ethnicity. PATIENTS AND METHODS: Patients had initiated atazanavir/ritonavir-containing regimens at an HIV primary care clinic in the southeastern USA, and had at least 12 months of follow-up data. Metabolizer group was defined by UGT1A1 rs887829 C→T. Genome-wide genotype data were used to adjust for genetic ancestry in combined population analyses...
November 6, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29099735/effect-of-pharmacogenetic-markers-of-vitamin-d-pathway-on-deferasirox-pharmacokinetics-in-children
#9
Sarah Allegra, Jessica Cusato, Silvia De Francia, Filomena Longo, Elisa Pirro, Davide Massano, Antonio Piga, Antonio D'Avolio
OBJECTIVES: Patients with β-thalassemia major have extremely low vitamin D levels, owing to reduced intestinal absorption, subicteric tint, and/or iron-induced higher pigmentation. We investigated whether some polymorphisms within the VDR, CYP24A1, CYP27B1, and GC genes could play a role in deferasirox pharmacokinetics in a cohort of pediatric patients. PATIENTS AND METHODS: Eighteen children with β-thalassemia were enrolled. Drug plasma concentrations at the end of dosing interval (Ctrough) and after 0, 2, 4, 6, and 24 h of drug administration were measured by a HPLC-UV method...
November 2, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29087970/gene-gene-interaction-between-drd4-and-comt-modulates-clinical-response-to-clozapine-in-treatment-resistant-schizophrenia
#10
Veera M Rajagopal, Anto P Rajkumar, Kuruthukulangara S Jacob, Molly Jacob
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 epistatic genetic associations of polymorphisms in DRD4 (120-bp duplication) and COMT (Val158Met) with clinical response to clozapine in people with treatment-resistant schizophrenia. We studied 93 participants who were on stable doses of clozapine for at least 12 weeks...
October 27, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29278617/genome-wide-meta-analyses-identifies-novel-taxane-induced-peripheral-neuropathy-associated-loci
#11
Lara E Sucheston-Campbell, Alyssa I Clay-Gilmour, William E Barlow, G Thomas Budd, Daniel O Stram, Christopher A Haiman, Xin Sheng, Li Yan, Gary Zirpoli, Song Yao, Chen Jiang, Kouros Owzar, Dawn Hershman, Kathy S Albain, Daniel F Hayes, Halle C Moore, Timothy J Hobday, James A Stewart, Abbas Rizvi, Claudine Isaacs, Muhammad Salim, Jule R Gralow, Gabriel N Hortobagyi, Robert B Livingston, Deanna L Kroetz, Christine B Ambrosone
OBJECTIVE: Taxane containing chemotherapy extends survival for breast cancer patients. However, taxane-induced peripheral neuropathy (TIPN) cannot be predicted, prevented or effectively treated. Using genome-wide analyses, we sought to identify common risk variants for TIPN. PATIENTS AND METHODS: Women with high-risk breast cancer enrolled in SWOG 0221 were genotyped using the Illumina 1M chip. Genome-wide analyses were performed in relation to ≥grade 3 Common Terminology Criteria for Adverse Events (CTCAE) neuropathy in European and African Americans...
February 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29232328/novel-cyp2a6-diplotypes-identified-through-next-generation-sequencing-are-associated-with-in-vitro-and-in-vivo-nicotine-metabolism
#12
Julie-Anne Tanner, Andy Z Zhu, Katrina G Claw, Bhagwat Prasad, Viktoriya Korchina, Jianhong Hu, HarshaVardhan Doddapaneni, Donna M Muzny, Erin G Schuetz, Caryn Lerman, Kenneth E Thummel, Steven E Scherer, Rachel F Tyndale
OBJECTIVES: Smoking patterns and cessation rates vary widely across smokers and can be influenced by variation in rates of nicotine metabolism [i.e. cytochrome P450 2A6 (CYP2A6), enzyme activity]. There is high heritability of CYP2A6-mediated nicotine metabolism (60-80%) owing to known and unidentified genetic variation in the CYP2A6 gene. We aimed to identify and characterize additional genetic variants at the CYP2A6 gene locus. METHODS: A new CYP2A6-specific sequencing method was used to investigate genetic variation in CYP2A6...
January 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28930109/abcg2-regulatory-single-nucleotide-polymorphisms-alter-in-vivo-enhancer-activity-and-expression
#13
Rachel J Eclov, Mee J Kim, Aparna Chhibber, Robin P Smith, Nadav Ahituv, Deanna L Kroetz
OBJECTIVES: The expression and activity of the breast cancer resistance protein (ABCG2) contributes toward the pharmacokinetics of endogenous and xenobiotic substrates. The effect of genetic variation on the activity of cis-regulatory elements and nuclear response elements in the ABCG2 locus and their contribution toward ABCG2 expression have not been investigated systematically. In this study, the effect of genetic variation on the in vitro and in vivo enhancer activity of six previously identified liver enhancers in the ABCG2 locus was examined...
December 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28877533/comprehensive-assessment-of-cytochromes-p450-and-transporter-genetics-with-endoxifen-concentration-during-tamoxifen-treatment
#14
Lauren A Marcath, Allison M Deal, Emily Van Wieren, William Danko, Christine M Walko, Joseph G Ibrahim, Karen E Weck, David R Jones, Zeruesenay Desta, Howard L McLeod, Lisa A Carey, William J Irvin, Daniel L Hertz
OBJECTIVES: Tamoxifen bioactivation to endoxifen is mediated primarily by CYP2D6; however, considerable variability remains unexplained. Our aim was to perform a comprehensive assessment of the effect of genetic variation in tamoxifen-relevant enzymes and transporters on steady-state endoxifen concentrations. PATIENTS AND METHODS: Comprehensive genotyping of CYP enzymes and transporters was performed using the iPLEX ADME PGx Pro Panel in 302 tamoxifen-treated breast cancer patients...
November 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28873070/functional-assessment-of-genetic-variants-located-in-the-promoter-of-shp1-nr0b2
#15
Katharina Prestin, Maria Olbert, Janine Hussner, Henry Völzke, Henriette E Meyer Zu Schwabedissen
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 is part of negative feedback loops of the transcriptional regulation of genes involved in drug metabolism and various metabolic pathways including bile acid and glucose homeostasis. Although it is known that several interacting partners of SHP1 also modulate its expression, there is little information about genetic variability of this regulatory mechanism...
November 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28858994/high-plasma-concentrations-of-dolutegravir-in-patients-with-abcg2-genetic-variants
#16
Kiyoto Tsuchiya, Tsunefusa Hayashida, Akinobu Hamada, Sakurako Oki, Shinichi Oka, Hiroyuki Gatanaga
The ATP-binding cassette transporters B1 (ABCB1) and G2 (ABCG2) are both expressed in the intestine and known as efflux transporters of drugs. Dolutegravir was identified recently as a substrate of both ABCB1 and ABCG2. This study aimed to determine the relations between single-nucleotide polymorphisms of ABCB1 and ABCG2 genes and plasma dolutegravir concentrations. Plasma samples were obtained from 42 HIV-1-infected patients treated with dolutegravir-containing regimens 0.5-4 h after dolutegravir dosing...
November 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28858993/pharmgkb-summary-very-important-pharmacogene-information-for-abcg2
#17
Alison E Fohner, Deanna J Brackman, Kathleen M Giacomini, Russ B Altman, Teri E Klein
No abstract text is available yet for this article.
November 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28858992/the-genotypes-and-methylation-of-mao-genes-as-factors-behind-smoking-behavior
#18
Emmi M Tiili, Natalia V Mitiushkina, Olga A Sukhovskaya, Evgeny N Imyanitov, Ari P Hirvonen
OBJECTIVE: Smoking dependence is the main cause for tobacco-related illnesses. The addiction-causing substance in tobacco, nicotine, acts through the dopamine pathway in the brain, causing several pleasurable experiences through cigarette smoking. Thus, both genetic and epigenetic factors related to dopamine metabolism may play an important role in influencing an individual's smoking behavior. MATERIALS AND METHODS: We studied the 1460 C/T variation and the variable number tandem repeat polymorphism in the MAOA gene and A/G variation in intron 13 in the MAOB gene together with four DNA methylation sites in both of these genes in relation to several smoking-related phenotypes in a study population of 1230 Whites of Russian origin...
November 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28777243/systematic-evaluation-of-commercial-pharmacogenetic-testing-in-psychiatry-a-focus-on-cyp2d6-and-cyp2c19-allele-coverage-and-results-reporting
#19
Chad A Bousman, Philip Jaksa, Christos Pantelis
OBJECTIVE: The aim of this study was to systematically assess commercial pharmacogenetic tests relevant to prescribing in psychiatry, with specific attention on CYP2D6 and CYP2C19 star allele coverage as well as compliance with consensus recommendations for pharmacogenetic test result reporting. MATERIALS AND METHODS: The CYP2D6 and CY2C19 star (*) allele contents of 20 pharmacogenetic test panels were compared and their test results reports were evaluated on the basis of consensus reporting recommendations published by The Centers for Disease Control and Prevention as well as the Clinical Pharmacogenetics Implementation Consortium...
November 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28806200/quality-of-anticoagulation-control-and-hemorrhage-risk-among-african-american-and-european-american-warfarin-users
#20
Nita A Limdi, Todd M Brown, Aditi Shendre, Nianjun Liu, Charles E Hill, Timothy M Beasley
OBJECTIVE: We evaluated whether percent time in target range (PTTR), risk of over-anticoagulation [international normalized ratio (INR)>4], and risk of hemorrhage differ by race. As PTTR is a strong predictor of hemorrhage risk, we also determined the influence of PTTR on the risk of hemorrhage by race. PARTICIPANTS AND METHODS: Among 1326 warfarin users, PTTR was calculated as the percentage of interpolated INR values within the target range of 2.0-3.0. PTTR was also categorized as poor (PTTR<60%), good (60≤PTTR<70%), or excellent (PTTR≥70%) anticoagulation control...
October 2017: Pharmacogenetics and Genomics
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