Article
Pharmacology & Pharmacy
Yasmin Cura, Almudena Sanchez-Martin, Noelia Marquez-Pete, Encarnacion Gonzalez-Flores, Fernando Martinez-Martinez, Cristina Perez-Ramirez, Alberto Jimenez-Morales
Summary: This study evaluated the association of SNPs with severe toxicity and treatment suspension in colorectal cancer patients treated with Capecitabine-based therapy. SNPs CES1 rs71647871 and CDA rs1048977 were identified as potential predictive biomarkers of treatment safety.
Review
Pharmacology & Pharmacy
Zaiwei Song, Yang Hu, Shuang Liu, Dan Jiang, Zhanmiao Yi, Mason M. Benjamin, Rongsheng Zhao
Summary: This systematic review investigated the genetic association of gene variants within the HDMTX pathway and their impact on clinical outcomes. Certain SNPs were found to be significantly associated with increased risk of HDMTX toxicity, while others showed a tendency towards decreased toxicity. Additional studies with larger sample sizes are needed to further explore the genetic influences on treatment outcomes.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Peixian Chen, Yumin Cao, Shenren Chen, Zhike Liu, Shiyi Chen, Yali Guo
Summary: This study evaluated the effects of genetic variations in organic cation transporter genes on the response to metformin treatment in diabetic patients. The results showed significant associations between variations in SLC47A1 and SLC47A2 genes and metformin efficacy, suggesting that these variations could be predictors of insulin resistance.
Article
Oncology
Anand Patil, Bharati Shriyan, Parsshava Mehta, Mrudula Patil, Murari Gurjar, Manjunath Nookala, Vijay Patil, Amit Joshi, Vanita Noronha, Kumar Prabhash, Vikram Gota
Summary: This study investigated the pharmacokinetics of docetaxel in different patients and found that genetic polymorphisms in the ADME gene do not significantly affect the metabolism of docetaxel, but patients with abnormal liver function may require dose reduction.
Article
Pharmacology & Pharmacy
Marco De Pieri, Marco Ferrari, Franca Marino, Rafael Traber, Emilio Bolla, Marco Cosentino
Summary: This pilot study found a correlation between SNPs in the DRD2 gene and response to Cariprazine treatment, suggesting the potential for new tools to predict and optimize treatment response.
FRONTIERS IN PHARMACOLOGY
(2023)
Review
Genetics & Heredity
Regina F. Nasyrova, Elena E. Vaiman, Vera V. Repkina, Aiperi K. Khasanova, Azat R. Asadullin, German A. Shipulin, Kuanysh S. Altynbekov, Mustafa Al-Zamil, Marina M. Petrova, Natalia A. Shnayder
Summary: Antipsychotic-induced akathisia (AIA) is a movement disorder characterized by inner restlessness and repetitive movements, which can occur in patients taking antipsychotics. This study reviewed genetic studies on AIA and found several genetic markers associated with the condition. Understanding the genetic predictors of AIA could help in developing personalized prevention and treatment strategies for this adverse drug reaction in patients with schizophrenia.
Article
Oncology
Andrea Urtasun, Gladys G. Olivera, Luis Sendra, Salvador F. Alino, Pablo Berlanga, Pablo Gargallo, David Hervas, Julia Balaguer, Antonio Juan-Ribelles, Maria del Mar Andres, Adela Canete, Maria Jose Herrero
Summary: Cancer is the leading cause of death in pediatric populations, and this study aims to identify genetic variants that impact treatment safety and efficacy. 64 infant patients were genotyped, and associations were found between genetic variants and survival and hematological toxicity. Personalized medicine based on these findings could improve response and tolerance to chemotherapy.
Review
Cell Biology
Farbod Bahreini, Elham Rayzan, Nima Rezaei
Summary: Breast cancer, a multifactorial disease, may have an increased risk due to alterations in microRNA sequences. miR-SNPs are potential biomarkers for early detection of breast cancer.
JOURNAL OF CELLULAR PHYSIOLOGY
(2021)
Article
Pharmacology & Pharmacy
Qiuyi Ji, Chunyu Zhang, Qing Xu, Zi Wang, Xiaoye Li, Qianzhou Lv
Summary: Our study found that the minor allele(C) on CES1 SNP rs8192935 was associated with PDC and APTT values, while the minor allele(A) carriers of CES1 SNP rs2244613 exhibited higher PDC levels and increased risk for minor bleeding in NVAF patients receiving dabigatran.
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
(2021)
Article
Oncology
Miguel Cordova-Delgado, Maria Loreto Bravo, Elisa Cumsille, Charlotte N. Hill, Matias Munoz-Medel, Mauricio P. Pinto, Ignacio N. Retamal, Maria A. Lavanderos, Juan Francisco Miquel, Maria Rodriguez-Fernandez, Yuwei Liao, Zhiguang Li, Alejandro H. Corvalan, Ricardo Armisen, Marcelo Garrido, Luis A. Quinones, Gareth Owen
Summary: The study found a high correlation between DPYD SNPs and fluoropyrimidine toxicity in the Latin American population, with significant associations between paired SNPs and toxicity. The multivariate logistic regression model combining multiple factors can accurately predict toxicity, improving treatment prediction accuracy.
Article
Cell Biology
Concetta Scimone, Luigi Donato, Simona Alibrandi, Concetta Alafaci, Angela D'Ascola, Sergio Vinci, Rosalia D'Angelo, Antonina Sidoti
Summary: This study reveals the importance of epitranscriptomic modifications in gene expression regulation and suggests the involvement of altered epitranscriptome profile in the development of CCM. These findings provide new insights for further investigation into the pathogenesis of CCM.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Maria Radanova, Mariya Levkova, Galya Mihaylova, Rostislav Manev, Margarita Maneva, Rossen Hadgiev, Nikolay Conev, Ivan Donev
Summary: There is a growing interest in studying single nucleotide polymorphisms (SNPs) in microRNA (miRNA) genes, as they may be associated with susceptibility, prognosis, and treatment response in colorectal cancer (CRC). These miRNA-SNPs could serve as non-invasive biomarkers for early detection of CRC. However, contradictory findings have been reported when different research groups investigated the same SNP in a gene for a specific miRNA, highlighting the need for more case-control studies involving participants from different ethnic backgrounds. According to our review, three miRNA-SNPs - miR-146a rs2910164, miR-27a rs895819, and miR-608 rs4919510 - appear to be promising prognostic, diagnostic, and predictive biomarkers for CRC.
Article
Biochemistry & Molecular Biology
Annika M. A. Berends, Mathieu S. Bolhuis, Ilja M. Nolte, Edward Buitenwerf, Thera P. Links, Henri J. L. M. Timmers, Richard A. Feelders, Elisabeth M. W. Eekhoff, Eleonora P. M. Corssmit, Peter H. Bisschop, Harm R. Haak, Ron H. N. van Schaik, Samira El Bouazzaoui, Bob Wilffert, Michiel N. Kerstens
Summary: Genetic variability of alpha-adrenergic receptor genes might be associated with the clinically observed variation in beneficial and adverse therapeutic drug responses to alpha-adrenergic receptor blockers. Further studies are needed to confirm these observations.
Review
Engineering, Environmental
Seyed Samad Hosseini, Asiyeh Jebelli, Somayeh Vandghanooni, Ali Jahanban-Esfahlan, Behzad Baradaran, Mohammad Amini, Negar Bidar, Miguel de la Guardia, Ahad Mokhtarzadeh, Morteza Eskandani
Summary: Single nucleotide polymorphisms (SNPs) are the main cause of individual variability and are associated with various diseases. The healthcare industry requires more advanced technologies to detect SNPs. This review focuses on novel SNP biosensors based on electrochemical, optical, and piezoelectric analysis, and explores future trends in sensing.
CHEMICAL ENGINEERING JOURNAL
(2022)
Article
Medicine, General & Internal
Maha Daghestani, Nashwa Othman, Mohammed A. Omair, Fahidah Alenzi, Maha A. Omair, Eman Alqurtas, Shireen Amin, Arjumand Warsy
Summary: This study conducted an investigation on the Saudi population and found that 6 single nucleotide polymorphisms (SNPs) were significantly associated with rheumatoid arthritis (RA), with 4 of them having a protective effect. Two SNPs showed significantly higher heterozygote frequencies in the control group compared to the patients. This indicates considerable heterogeneity in the genetics of RA in different populations.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, General & Internal
Cathelijne H. van der Wouden, Ellen Paasman, Martina Teichert, Matty R. Crone, Henk-Jan Guchelaar, Jesse J. Swen
JOURNAL OF CLINICAL MEDICINE
(2020)
Article
Pharmacology & Pharmacy
Essra Youssef, Charlotte L. Kirkdale, David J. Wright, Henk-Jan Guchelaar, Tracey Thornley
Summary: This study aims to quantitatively estimate the impact of a population-level pharmacogenetic screening programme on primary care prescribing in the UK. Results show that actionable drug-gene interactions are common in primary care, suggesting significant opportunities for optimizing prescribing practices.
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
(2021)
Article
Dermatology
Ruth Van Daele, Yves Debaveye, Robin Vos, Pascal Van Bleyenbergh, Roger J. Bruggemann, Erwin Dreesen, Omar Elkayal, Henk-Jan Guchelaar, Pieter Vermeersch, Katrien Lagrou, Isabel Spriet
Summary: The CYP3A4/5 genotype plays a crucial role in determining the exposure to isavuconazole and may also impact the CYP450 induction interaction. Less potent CYP3A inducers compared to rifampin, such as rifabutin or phenobarbital, can be combined with isavuconazole in patients with loss of CYP3A5 activity (CYP3A5*3/*3). Therapeutic drug monitoring is recommended for this combination therapy.
Article
Gastroenterology & Hepatology
Sanne N. van Munster, Charlotte N. Frederiks, Esther A. Nieuwenhuis, Lorenza Alvarez Herrero, Auke Bogte, Alaa Alkhalaf, Boudewijn E. Schenk, Erik J. Schoon, Wouter L. Curvers, Arjun D. Koch, Steffi E. M. van de Ven, Pieter J. F. de Jonge, Thjon J. Tang, Wouter B. Nagengast, Frans T. M. Peters, Jessie Westerhof, Martin H. M. G. Houben, Jacques J. G. H. M. Bergman, Roos E. Pouw, Bas L. A. M. Weusten
Summary: In patients with Barrett's esophagus undergoing radiofrequency ablation therapy, poor healing and poor squamous regeneration were associated with higher risk of treatment failure and progression to advanced disease. However, additional time and acid suppression can lead to normal squamous regeneration and excellent treatment outcomes in patients with poor healing.
Review
Pharmacology & Pharmacy
Maaike van der Lee, Henk-Jan Guchelaar, Jesse J. Swen
Summary: Genetic variants in the gene encoding CYP2D6 show substrate-specific effects in drug metabolism, with the CYP2D6*17 allele having higher debrisoquine clearance and the CYP2D6*10 allele having lower dextromethorphan clearance. However, more studies are needed due to sparse data on most substrates.
Review
Pharmacology & Pharmacy
Iris Lafeber, Elisabeth J. Ruijgrok, Henk-Jan Guchelaar, Kirsten J. M. Schimmel
Summary: 3D printing of pediatric-centered drug formulations offers a promising alternative to current treatment options and has shown superior dosing and release profiles compared to conventional methods. However, further research is needed for successful clinical implementation and expansion of regulatory guidance and product range.
Article
Chemistry, Medicinal
Henok D. Habtemariam, Henk-Jan Guchelaar
Summary: Pharmacogenomics studies the heritability of drug response, and individualizing drug therapy based on genetic profile can make drug therapy safer and more effective. Extracellular vesicles can be used to determine the expression of pharmacogenes in the liver.
Article
Chemistry, Medicinal
Lisanne E. N. Manson, Wilbert B. van den Hout, Henk-Jan Guchelaar
Summary: Implementing genotyping for HLA risk alleles in the Netherlands can potentially prevent drug hypersensitivity reactions and associated deaths in allopurinol and flucloxacillin initiators. However, genotyping before initiating antiepileptic drugs or flucloxacillin is not cost-effective.
Article
Gastroenterology & Hepatology
Charlotte N. Frederiks, Sanne N. van Munster, Esther A. Nieuwenhuis, Lorenza Alvarez Herrero, Alaa Alkhalaf, Boudewijn E. Schenk, Erik J. Schoon, Wouter L. Curvers, Arjun D. Koch, Pieter-Jan F. de Jonge, Thjon Tang, Wouter B. Nagengast, Jessie Westerhof, Martin H. M. G. Houben, Jacques J. G. H. M. Bergman, Roos E. Pouw, Bas L. A. M. Weusten, Dutch Barrett Expert Centre
Summary: This study aimed to assess the incidence and long-term outcomes of findings from random esophagogastric junction (EGJ) biopsies after complete eradication of Barrett's esophagus (BE). The study found that persistent intestinal metaplasia (IM) at the EGJ was not associated with a higher risk for recurrent non-dysplastic or dysplastic BE. Recurrent EGJ-IM was also not associated with recurrent non-dysplastic or dysplastic BE.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2023)
Letter
Pharmacology & Pharmacy
Mirjam de With, Jonathan Knikman, Jan H. M. Schellens, Hans Gelderblom, Annemieke Cats, Henk-Jan Guchelaar, Ron H. J. Mathijssen, Jesse J. Swen, Didier Meulendijks
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Oncology
Sylvia A. van Laar, Ellen Kapiteijn, Kim B. Gombert-Handoko, Henk-Jan Guchelaar, Juliette Zwaveling
Summary: This study aimed to retrospectively review the benefits and risks of adjuvant melanoma treatments, finding that immune checkpoint inhibitors were better tolerated than D + T, but the adverse events of D + T were reversible. The study demonstrated that text-mining is a valuable method for collecting real-world data to evaluate melanoma treatments.
Article
Pharmacology & Pharmacy
Maryam Lyousoufi, Iris Lafeber, Dinemarie Kweekel, Brenda C. M. de Winter, Jesse J. J. Swen, Paul P. H. Le Brun, Erica C. M. Bijleveld-Olierook, Teun van Gelder, Henk-Jan Guchelaar, Dirk Jan A. R. Moes, Kirsten J. M. Schimmel
Summary: Personalized medicine lacks flexible drug formulations, especially for pediatric patients. This study investigates the feasibility of developing a 3D-printed tablet formulation at the point-of-care that complies with quality requirements for clinical practice, including bioequivalence.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Letter
Pharmacology & Pharmacy
Henk-Jan Guchelaar, Jesse Swen
BASIC & CLINICAL PHARMACOLOGY & TOXICOLOGY
(2023)
Editorial Material
Pharmacology & Pharmacy
Sofia L. J. Peeters, Maarten J. Deenen, Anna M. J. Thijs, Emma C. Hulshof, Ron H. J. Mathijssen, Hans Gelderblom, Henk-Jan Guchelaar, Jesse J. Swen
Article
Pharmacology & Pharmacy
Jonathan E. Knikman, Marta Lopez-Yurda, Didier Meulendijks, Maarten J. Deenen, Jan H. M. Schellens, Jos Beijnen, Annemieke Cats, Henk-Jan Guchelaar
Summary: DPYD-guided dosing has improved the safety of fluoropyrimidine-based chemotherapy. However, severe toxicity still occurs in patients without DPYD variant alleles. Therefore, researchers developed a predictive model based on patient and treatment factors to estimate the risk of severe toxicity. Internal validation showed good predictive ability of the model.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Review
Oncology
Albrecht Stenzinger, Arndt Vogel, Ulrich Lehmann, Angela Lamarca, Paul Hofman, Luigi Terracciano, Nicola Normanno
Summary: Cholangiocarcinomas are a heterogeneous group of tumors with distinct genomic alterations. Next-generation sequencing is a powerful tool for identifying gene variants and guiding personalized treatment for patients with cholangiocarcinomas. Understanding the use of NGS in molecular profiling is crucial for healthcare professionals to optimize treatment outcomes.
CANCER TREATMENT REVIEWS
(2024)