PharmacogenomicsPub Date : 2024-01-01Epub Date: 2024-07-23DOI: 10.1080/14622416.2024.2366691
Marc Leach, William G Newman, John H McDermott
{"title":"Rapid point of care testing: the next frontier in pharmacogenomics.","authors":"Marc Leach, William G Newman, John H McDermott","doi":"10.1080/14622416.2024.2366691","DOIUrl":"10.1080/14622416.2024.2366691","url":null,"abstract":"","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"289-291"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11404691/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141748774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PharmacogenomicsPub Date : 2024-01-01Epub Date: 2024-09-04DOI: 10.1080/14622416.2024.2392482
Snezana Kusljic, Jasmine A Luzum
{"title":"It is time for educators to act: pharmacogenomics education and its implementation into clinical practice.","authors":"Snezana Kusljic, Jasmine A Luzum","doi":"10.1080/14622416.2024.2392482","DOIUrl":"10.1080/14622416.2024.2392482","url":null,"abstract":"","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"425-427"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11492721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142126386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PharmacogenomicsPub Date : 2024-01-01Epub Date: 2024-12-19DOI: 10.1080/14622416.2024.2441104
Lisanne A H Bevers, Rebecca L Jensen, Andrew Owen, Angela Colbers, Daniel F Carr, David M Burger
{"title":"Genetic variation on dolutegravir pharmacokinetics and relation to safety and efficacy outcomes: a systematic review.","authors":"Lisanne A H Bevers, Rebecca L Jensen, Andrew Owen, Angela Colbers, Daniel F Carr, David M Burger","doi":"10.1080/14622416.2024.2441104","DOIUrl":"10.1080/14622416.2024.2441104","url":null,"abstract":"<p><strong>Background: </strong>Dolutegravir (DTG) is an antiviral agent used for the treatment of HIV, however, there is uncertainty over the influence of genetic variation on DTG exposure, and whether it has clinical implications for the efficacy or toxicity in different populations. This systematic review aims to create an overview of the impact of pharmacogenomics (PGx) on DTG exposure, efficacy, and toxicity.</p><p><strong>Methods: </strong>Publications up to 14 November 2023 were searched and articles were selected on the following criteria: original research articles providing data on people with HIV, data on PGx and either PK or PD or both PD and PGx.</p><p><strong>Results: </strong>711 records were identified, and after screening 10 articles were included. Commonly analyzed genes across the articles were <i>UGT1A1</i>, <i>ABCB1</i>, <i>ABCG2</i>, and <i>NR1I2</i>. The most reported variant associated with PD variability was in <i>SLC22A2</i>, with carriers at higher risk of neuropsychiatric adverse events.</p><p><strong>Conclusions: </strong>This review concludes that while PGx testing may help explain some variability in DTG pharmacokinetics when combined with therapeutic drug monitoring (TDM), current evidence is insufficient to support its routine clinical use. The role of PGx research for DTG remains relevant, especially in specific patient populations where interindividual PK variations are still unexplained.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"623-635"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Effect of <i>UGT1A6</i> and <i>UGT2B7</i> polymorphisms on the valproic acid serum concentration and drug-induced liver injury.","authors":"Mengchen Yu, Yan Zhao, Fan Zhou, Weiliang Li, Jing Liu, Linlin Zhao, Zhirui Song, Ling Tong, Ying Zhang, Yajuan Wang, Shenglan Shang, Airong Yu","doi":"10.1080/14622416.2024.2409061","DOIUrl":"10.1080/14622416.2024.2409061","url":null,"abstract":"<p><p><b>Aim:</b> Valproic acid (VPA) is a classic broad-spectrum antiepileptic drug, with significant pharmacokinetic variability. Genetic polymorphisms contribute to this variability, influencing both VPA trough serum concentration (VPA concentration) and VPA-induced liver injury. Our study aims to investigate the association between polymorphisms of uridine diphosphate glucuronyl transferase (<i>UGT</i>) <i>1A6</i>, <i>UGT2B7</i> and VPA concentration and screen for potential genetic loci affecting VPA-induced liver injury.<b>Methods:</b> This study included epilepsy patients treated with VPA. PCR-RFLP method was used to determine the genotypes of <i>UGT1A6</i> and <i>UGT2B7</i>. Chemiluminescent microparticle immunoassay was used to measure VPA concentration. Multiple linear regression and logistic regression were employed to analyze factors influencing VPA concentration and VPA-induced liver injury, respectively.<b>Results:</b> The correlation between <i>UGT</i> polymorphism and VPA concentration was analyzed in 133 samples. For VPA-induced liver injury, 105 patients were analyzed, with 29 in the liver injury group and 76 in the control group. Our finding showed patients with the <i>UGT1A6-T19G</i> variant had significantly lower VPA concentrations compared with wild-type patients and <i>UGT1A6-T19G, A541G, A552C and UGT2B7-C802T, G211T, A268G</i> polymorphisms showed no impact on VPA-induced liver injury.<b>Conclusion:</b> This study demonstrated <i>UGT1A6-T19G</i> polymorphisms affected the VPA concentration, providing a theoretical basis for the individualized clinical use of VPA.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"527-538"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Effects of immunorelated gene polymorphisms on trastuzumab targeting breast cancer cell <i>in vitro</i>.","authors":"Linyu Yu, Congmin Zhang, Liangyu Liu, Xiaoping Chen","doi":"10.1080/14622416.2024.2404819","DOIUrl":"10.1080/14622416.2024.2404819","url":null,"abstract":"<p><p><b>Aim:</b> To investigate the associations between genetic polymorphisms in immunorelated genes and PBMC-induced cytotoxicity to breast cancer cell with the treatment of trastuzumab <i>in vitro</i>.<b>Methods:</b> Trastuzumab-mediated cytotoxicity of peripheral blood mononuclear cells (PBMC) from 148 healthy donors and 13 BC patients was analyzed by flow cytometry. 16 SNPs in 7 immunorelated genes were genotyped by Sequenom Mass Array Genotype Platform.<b>Results:</b> Cytotoxicity in the trastuzumab treated PBMCs were significantly higher than those of the basal group. A wide variability in trastuzumab-mediated cytotoxicity was observed, and PBMC from individuals with the <i>CD247</i> rs16859030 T genotype generated increased cytotoxicity than those with the CC genotype.<b>Conclusion:</b> The <i>CD247</i> rs16859030 polymorphism affects trastuzumab-mediated cytotoxicity <i>in vitro</i>.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"461-468"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11492633/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400986","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"<i>MIR27A</i> rs895819 TC genotype increases risk of fluoropyrimidine-induced severe toxicity independently of <i>DPYD</i> variations.","authors":"Georgia Ragia, Eirini Biziota, Triantafyllia Koukaki, Kyriakos Amarantidis, Vangelis G Manolopoulos","doi":"10.2217/pgs-2023-0223","DOIUrl":"10.2217/pgs-2023-0223","url":null,"abstract":"<p><p><b>Aim:</b> MicroRNA 27a (miR-27a) regulates post-transcriptionally DPD activity. We have analyzed the association of <i>MIR27A</i> rs895819T>C variation, that modulates miR-27a expression, with fluropyrimidine-induced toxicity. <b>Materials & methods:</b> <i>MIR27A</i> rs895819T>C genotyping was conducted by TaqMan® allelic discrimination assay in 313 FP-treated cancer patients. <b>Results:</b> In overdominance (TC vs TT + CC), TC genotype was associated with grade 3-4 toxicity (p = 0.002), any grade toxicity (p = 0.052), and delayed drug administration or therapy discontinuation (p = 0.038). Odds of grade 3-4 toxicity were increased by both <i>DPYD</i> deficiency (OR: 8.923; p = 0.006) and <i>MIR27A</i> rs895819 TC genotype (OR: 3.865; p = 0.002). <b>Conclusion:</b> <i>MIR27A</i> rs895819 TC genotype is an independent risk factor for fluoropyrimidine-associated toxicity in the Greek population. Thus, <i>MIR27A</i> rs895819TC patients can be closely monitored for fluoropyrimidine-induced severe toxicity.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"59-67"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139730291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PharmacogenomicsPub Date : 2024-01-01Epub Date: 2024-09-04DOI: 10.1080/14622416.2024.2392479
Eve Tomlinson, Chris Cooper, Hayley E Jones, Catalina Lopez Manzano, Rachel Palmer, Joe Carroll, Ayman Sadek, Nicky J Welton, Mariska Leeflang, Penny Whiting
{"title":"Accuracy and technical characteristics of CYP2C19 point of care tests: a systematic review.","authors":"Eve Tomlinson, Chris Cooper, Hayley E Jones, Catalina Lopez Manzano, Rachel Palmer, Joe Carroll, Ayman Sadek, Nicky J Welton, Mariska Leeflang, Penny Whiting","doi":"10.1080/14622416.2024.2392479","DOIUrl":"10.1080/14622416.2024.2392479","url":null,"abstract":"<p><p><b>Aim:</b> To assess the accuracy and technical characteristics of <i>CYP2C19</i> point of care tests (POCTs).<b>Patients & methods:</b> Systematic review of primary studies, in any population or setting, that evaluated POCTs for detecting <i>CYP2C19</i> loss of function (LOF) alleles.<b>Results:</b> Eleven studies provided accuracy data (eight Spartan; one Genomadix Cube; one GMEX; one Genedrive). The POCTs had very high sensitivity and specificity for the alleles they tested for. Twenty-two studies reported technical characteristics: POCTs were easy to operate and provided results quickly. Limited data were reported for test failure rate and cost.<b>Conclusion:</b> <i>CYP2C19</i> POCTs may be a useful alternative to laboratory-based testing to guide antiplatelet therapy. Further data are required on accuracy (GMEX; Genedrive), test failure and cost (all POCT).</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"407-423"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418221/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142126385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PharmacogenomicsPub Date : 2024-01-01Epub Date: 2023-12-21DOI: 10.2217/pgs-2023-0199
Sara Abudahab, Patricia W Slattum, Elvin T Price, Joseph L McClay
{"title":"Epigenetic regulation of drug metabolism in aging: utilizing epigenetics to optimize geriatric pharmacotherapy.","authors":"Sara Abudahab, Patricia W Slattum, Elvin T Price, Joseph L McClay","doi":"10.2217/pgs-2023-0199","DOIUrl":"10.2217/pgs-2023-0199","url":null,"abstract":"<p><p>We explore the relationship between epigenetic aging and drug metabolism. We review current evidence for changes in drug metabolism in normal aging, followed by a description of how epigenetic modifications associated with age can regulate the expression and functionality of genes. In particular, we focus on the role of epigenome-wide studies of human and mouse liver in understanding these age-related processes with respect to xenobiotic processing. We highlight genes encoding drug metabolizing enzymes and transporters revealed to be affected by epigenetic aging in these studies. We conclude that substantial evidence exists for epigenetic aging impacting drug metabolism and transport genes, but more work is needed. We further highlight the promise of pharmacoepigenetics applied to enhancing drug safety in older adults.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"41-54"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10794944/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138830881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PharmacogenomicsPub Date : 2024-01-01Epub Date: 2024-11-20DOI: 10.1080/14622416.2024.2429946
Esther Camilo Dos Reis, Santiago Caneppa, Pedro Vasconcelos, Paulo Caleb Júnior de Lima Santos
{"title":"Advancing pharmacogenomics research: automated extraction of insights from PubMed using SpaCy NLP framework.","authors":"Esther Camilo Dos Reis, Santiago Caneppa, Pedro Vasconcelos, Paulo Caleb Júnior de Lima Santos","doi":"10.1080/14622416.2024.2429946","DOIUrl":"10.1080/14622416.2024.2429946","url":null,"abstract":"<p><p>This paper presents a methodology for automatically extracting insights from PubMed articles using a Natural Language Processing (NLP) framework. Our approach, leveraging advanced NLP techniques and Named Entity Recognition (NER), is crucial for advancing pharmacogenomics and other scientific fields that benefit from streamlined access to literature through automated services like RESTful APIs.Building a new NLP model presents several challenges. First, it is essential to have a thorough understanding of the field in order to define relevant entities. Second, the construction of a diverse and consistent set of examples is crucial. Finally, the effective utilization of pre-established models is of paramount importance, as demonstrated in this work.Our model, validated via ten-fold cross-validation, achieved over 70% recall and precision for all entities in the training set. We provide a reproducible pipeline for the scientific community and propose a structured approach for qualitative analysis and clustering of results. This methodology refines literature reviews, optimizes knowledge extraction, and supports broader application across diverse research domains. An online platform could further extend these benefits to researchers, educators, and practitioners.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"573-578"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PharmacogenomicsPub Date : 2024-01-01Epub Date: 2024-07-29DOI: 10.1080/14622416.2024.2375190
Dewa A S Handani, Adam Hermawan, Zullies Ikawati
{"title":"Correlation of <i>ACE</i> insertion/deletion gene polymorphism with captopril effectiveness in Indonesian hypertensive patients.","authors":"Dewa A S Handani, Adam Hermawan, Zullies Ikawati","doi":"10.1080/14622416.2024.2375190","DOIUrl":"10.1080/14622416.2024.2375190","url":null,"abstract":"<p><p><b>Background:</b> Hypertension is a prevalent health concern in Indonesia, with a high percentage of patients unresponsive to ACE inhibitor treatment. <b>Methods:</b> This multicenter case-control study investigated the correlation between ACE I/D and captopril effectiveness in Indonesian hypertensive patients. Hypertensive patients were divided into control (n = 69) and case (n = 73) groups. <i>ACE I/D</i> was identified using PCR and electrophoresis.<b>Results:</b> No significant differences in genotype frequencies or allele distribution were observed. The difference of blood pressure reduction among the three genotypes also lacked statistical significance.<b>Conclusion: </b> <i>ACE I/D</i> is not significantly associated with blood pressure reduction following captopril therapy in Indonesian hypertensive patients. These results underscore the limited predictive utility of <i>ACE I/D</i> in managing hypertension with captopril.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"357-365"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11734884/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141788845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}