Article
Multidisciplinary Sciences
Sumiko Ohnami, Akane Naruoka, Mitsuhiro Isaka, Maki Mizuguchi, Sou Nakatani, Fukumi Kamada, Yuji Shimoda, Ai Sakai, Keiichi Ohshima, Keiichi Hatakeyama, Kouji Maruyama, Yasuhisa Ohde, Hirotsugu Kenmotsu, Toshiaki Takahashi, Yasuto Akiyama, Takeshi Nagashima, Kenichi Urakami, Shumpei Ohnami, Ken Yamaguchi
Summary: The differences in genetic susceptibility to lung adenocarcinoma and squamous cell carcinoma are still not clear. Researchers developed a gene sequencing panel to detect germline variants in these two types of cancer. The study found that certain gene variants were associated with an increased risk of squamous cell carcinoma, while whole-gene deletion was associated with adenocarcinoma.
SCIENTIFIC REPORTS
(2022)
Article
Pharmacology & Pharmacy
Emma A. Magavern, David van Heel, Damian Smedley, Mark Caulfield
Summary: This study aimed to explore the possible association between loss-of-function CYP2C19 genotypes and gastrointestinal bleed (GIB) in South Asian participants prescribed antidepressants. The results showed that there was an independent association between antidepressant prescriptions and GIB events, but no relationship between CYP2C19 metabolizer status and GIB in those prescribed antidepressants. Precision dosing based on CYP2C19 genetic information alone is unlikely to reduce GIB prevalence.
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
(2023)
Article
Gastroenterology & Hepatology
Milan Patel, Omeed Partovi, Katja Karrento, Zhuping Garacchi, Gokulakrishnan Balasubramanian, Thangam Venkatesan
Summary: The genotypes of CYP2C19 and CYP2D6 are not significantly associated with adverse drug reactions and serum drug concentration in CVS patients, but CYP2D6 genotype may be associated with clinical response. Pharmacogenomic testing has the potential to optimize clinical management in CVS.
NEUROGASTROENTEROLOGY AND MOTILITY
(2023)
Article
Developmental Biology
Mert C. Ongun, Nazan Vanli Tonyali, Ozan Kaplan, Ilter Deger, Mustafa Celebier, Nursabah E. Basci Akduman, Dilek Sahin, Aykan Yucel, Melih O. Babaoglu
Summary: The aim of this study was to investigate the effects of genetic polymorphisms in cytochrome P450 (CYP) 2J2, CYP2C9, CYP2C19, CYP4F2, CYP4F3, and CYP4A11 on preeclampsia and gestational hypertension (GHT) in a Turkish population. The results showed that plasma DHET levels were significantly lower in GHT and preeclampsia patients compared to the control group. There were also significant differences in allele frequencies of certain genes between hypertensive pregnant patients and healthy control subjects.
Article
Genetics & Heredity
Michael Sayer, Ashley Duche, Trang Jenny Tran Nguyen, Michelle Le, Kunj Patel, Jacqueline Vu, Danny Pham, Brianne Vernick, Richard Beuttler, Don Roosan, Moom R. Roosan
Summary: Although pharmacogenomics (PGx) has the potential to improve patient outcomes, its application is not yet routine. A study evaluated the detection rate of currently available combinatorial PGx (CPGx) tests based on cytochrome P450 (CYP) gene variants, showing significant variation across ethnic groups. Therefore, the patient's ethnic background should be carefully considered in selecting CPGx tests.
FRONTIERS IN GENETICS
(2021)
Article
Gastroenterology & Hepatology
Irene Sarosiek, Mark Van Natta, Henry P. Parkman, Thomas Abell, Kenneth L. Koch, Braden Kuo, Robert J. Shulman, Gianrico Farrugia, Madhusudan Grover, Frank A. Hamilton, Pankaj J. Pasricha, Katherine P. Yates, Laura Miriel, Laura Wilson, Goro Yamada, James Tonascia, Richard W. McCallum
Summary: This study aimed to evaluate the effectiveness of domperidone (DOM) in treating gastroparesis (GP) and found that DOM treatment can moderately but significantly improve the symptoms of GP.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2022)
Review
Cardiac & Cardiovascular Systems
Anh B. Nguyen, Larisa H. Cavallari, Joseph S. Rossi, George A. Stouffer, Craig R. Lee
Summary: The article highlights the importance of dual antiplatelet therapy for patients undergoing PCI, as well as the impact of CYP2C19 genotype on the efficacy of clopidogrel. Racial and ethnic disparities in genotype-guided antiplatelet therapy should receive more attention.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Yang Zhang, Xiliang Zhao, Yicong Ye, Quan Li, Yong Zeng
Summary: This study investigated the association between CYP2C19 gene polymorphisms and the risk of cardiovascular events in patients who received clopidogrel after percutaneous coronary intervention (PCI). The results showed that patients with two copies of loss-of-function (LOF) alleles had a higher risk of ischemic events at 3 months post-PCI, but this difference was not sustained for 12 months.
JOURNAL OF CARDIOVASCULAR PHARMACOLOGY
(2022)
Article
Pharmacology & Pharmacy
Myung-Eui Seo, Byung-Joo Min, Nayoon Heo, Kye Hwa Lee, Ju Han Kim
Summary: This study comprehensively assessed the drug metabolizing capabilities of CYP2C19 variants discovered through population sequencing and proposed a methodology that combines in silico prediction algorithms and functional assays to evaluate the changes in drug metabolism caused by genomic variants in CYP genes.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Anesthesiology
Catherine Chanfreau-Coffinier, Sony Tuteja, Leland E. Hull, Sally MacDonald, Olga Efimova, Jill Bates, Deepak Voora, David W. Oslin, Scott L. DuVall, Julie A. Lynch
Summary: The response to analgesic therapy is influenced by various factors, including genetics and drug interactions. This study aimed to evaluate the potential impact of pharmacogenetic (PGx) testing on the care of Veterans with noncancer pain who were prescribed opioids metabolized by the CYP2D6 gene. The results showed that a significant proportion of patients were at an elevated risk for undesirable responses to their opioid medication based on predicted phenotypes and drug-drug interactions. However, CYP2D6 testing was infrequently used, and the results were mainly utilized to optimize antidepressant treatments rather than pain medications. The findings suggest that utilizing PGx testing along with consideration of phenoconversion may enhance the precision medicine approach to pain management in Veterans.
Article
Biochemistry & Molecular Biology
Giovanna Gentile, Ottavia De Luca, Antonio Del Casale, Gerardo Salerno, Maurizio Simmaco, Marina Borro
Summary: Improper drug prescription is a major problem leading to drug-related harms and healthcare resource wastage. Through genomic profiling, we found that only 14.8% of Italian subjects had a fully normal cytochrome profile, while 26.5% had combined cytochrome dysfunction. The discussion focuses on the potential benefits of comprehensive pharmacogenomic testing in polytreated patients to improve drug selection.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
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
Multidisciplinary Sciences
Laurentijn Tilleman, Kaat Rubben, Wim Van Criekinge, Dieter Deforce, Filip Van Nieuwerburgh
Summary: This study tested the effectiveness of Targeted Locus Amplification (TLA) combined with Illumina or Nanopore sequencing in accurate genotyping and phasing of pharmacogenes. The results showed limited nucleotide mapping on target and incomplete coverage of genes with both sequencing methods. However, the optimized primer pair for the CYP2D6 gene in the Nanopore dataset resulted in correct haplotypes, indicating the potential reliability of this method with patient-specific primer design and optimization.
SCIENTIFIC REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Freeborn Rwere, Sangchoul Im, Lucy Waskell
Summary: By altering the 140s FMN binding loop of CYPOR, the activity with cyt P450s can be affected, with the mutant activity primarily determined by its ability to reduce ferric cyt P450. The different behaviors of the mutants are mainly due to the altered structure and mobility of the loop.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Pharmacology & Pharmacy
Bradley Roberts, Zahra Cooper, Stephanie Lu, Susanne Stanley, Bernadette T. Majda, Khan R. L. Collins, Lucy Gilkes, Jennifer Rodger, P. Anthony Akkari, Sean D. Hood
Summary: Pharmacogenetics (PGx) studies how individual genetic differences can affect drug responses. PGx testing can individualize primary care and provide a safer drug prescription model. It has shown promising evidence in improving drug efficacy and reducing toxicity in psychiatry. However, there are barriers hindering its implementation.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Computer Science, Interdisciplinary Applications
Duy Duc An Bui, Guilherme Del Fiol, John F. Hurdle, Siddhartha Jonnalagadda
JOURNAL OF BIOMEDICAL INFORMATICS
(2016)
Article
Nutrition & Dietetics
Le-Thuy T. Tran, Philip J. Brewster, Valliammai Chidambaram, John F. Hurdle
Article
Medical Informatics
T. Elizabeth Workman, John F. Hurdle
BMC MEDICAL INFORMATICS AND DECISION MAKING
(2011)
Article
Medical Informatics
T. Elizabeth Workman, Marcelo Fiszman, John F. Hurdle
BMC MEDICAL INFORMATICS AND DECISION MAKING
(2012)
Article
Computer Science, Interdisciplinary Applications
Shan He, Scott P. Narus, Julio C. Facelli, Lee Min Lau, Jefferey R. Botkin, John F. Hurdle
JOURNAL OF BIOMEDICAL INFORMATICS
(2014)
Article
Computer Science, Interdisciplinary Applications
Jianlin Shi, John F. Hurdle
JOURNAL OF BIOMEDICAL INFORMATICS
(2018)
Article
Ethics
Shan He, Jeffrey R. Botkin, John F. Hurdle
JOURNAL OF EMPIRICAL RESEARCH ON HUMAN RESEARCH ETHICS
(2015)
Article
Computer Science, Information Systems
Kenneth W. Goodman, Samantha Adams, Eta S. Berner, Peter J. Embi, Robert Hsiung, John Hurdle, Dixie A. Jones, Christoph U. Lehmann, Sarah Maulden, Carolyn Petersen, Enrique Terrazas, Peter Winkelstein
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2013)
Article
Computer Science, Information Systems
John F. Hurdle, Stephen C. Haroldsen, Andrew Hammer, Cindy Spigle, Alison M. Fraser, Geraldine P. Mineau, Samir J. Courdy
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2013)
Article
Computer Science, Information Systems
Wayne Bradford, John F. Hurdle, Bernie LaSalle, Julio C. Facelli
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2014)
Letter
Genetics & Heredity
John F. Hurdle, Ken R. Smith, Geraldine P. Mineau
NATURE REVIEWS GENETICS
(2013)
Article
Multidisciplinary Sciences
David E. Jones, Sean Igo, John Hurdle, Julio C. Facelli
Proceedings Paper
Health Care Sciences & Services
Shan He, Matthias Ganzinger, John F. Hurdle, Petra Knaup
MEDINFO 2013: PROCEEDINGS OF THE 14TH WORLD CONGRESS ON MEDICAL AND HEALTH INFORMATICS, PTS 1 AND 2
(2013)
Article
Medical Informatics
John P. Pestian, Pawel Matykiewicz, Michelle Linn-Gust, Brett South, Ozlem Uzuner, Jan Wiebe, K. Bretonnel Cohen, John Hurdle, Christopher Brew
BIOMEDICAL INFORMATICS INSIGHTS
(2012)