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Overview of the year 2023 at Pharmacogenomics. 药物基因组学 2023 年概览。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2023-12-19 DOI: 10.2217/pgs-2023-0228
Sarah Jones
{"title":"Overview of the year 2023 at <i>Pharmacogenomics</i>.","authors":"Sarah Jones","doi":"10.2217/pgs-2023-0228","DOIUrl":"10.2217/pgs-2023-0228","url":null,"abstract":"","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138807394","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}
引用次数: 0
Pharmacogenetic and pharmacogenomic treatment of rheumatoid arthritis: a review of Pharmacogenomics Knowledge Base scientific evidence. 类风湿性关节炎的药物遗传学和药物基因组学治疗：药物基因组学知识库科学证据综述。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-01-17 DOI: 10.2217/pgs-2023-0230
Pedro Dorado, Eva M Peñas-Lledó
{"title":"Pharmacogenetic and pharmacogenomic treatment of rheumatoid arthritis: a review of Pharmacogenomics Knowledge Base scientific evidence.","authors":"Pedro Dorado, Eva M Peñas-Lledó","doi":"10.2217/pgs-2023-0230","DOIUrl":"10.2217/pgs-2023-0230","url":null,"abstract":"<p><p>Tweetable abstract Update on the genetic variants with the highest level of Pharmacogenomics Knowledge Base evidence for their association with toxicity and efficacy in response to the most commonly used disease-modifying antirheumatic drugs for the treatment of rheumatoid arthritis.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139478778","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}
引用次数: 0
Pharmacogenetics of Calcineurin inhibitors in kidney transplant recipients: the African gap. A narrative review. 肾移植受者钙神经蛋白抑制剂的药物遗传学：非洲差距。叙述性综述。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-08-07 DOI: 10.1080/14622416.2024.2370761
Sadiq Aliyu Hussaini, Bala Waziri, Caroline Dickens, Raquel Duarte
{"title":"Pharmacogenetics of Calcineurin inhibitors in kidney transplant recipients: the African gap. A narrative review.","authors":"Sadiq Aliyu Hussaini, Bala Waziri, Caroline Dickens, Raquel Duarte","doi":"10.1080/14622416.2024.2370761","DOIUrl":"10.1080/14622416.2024.2370761","url":null,"abstract":"<p><p>Calcineurin inhibitors (CNIs) are the mainstay of immunosuppression in kidney transplantation. Interpatient variability in the disposition of calcineurin inhibitors is a well-researched phenomenon and has a well-established genetic contribution. There is great diversity in the makeup of African genomes, but very little is known about the pharmacogenetics of CNIs and transplant outcomes. This review focuses on genetic variants of calcineurin inhibitors' metabolizing enzymes (CYP3A4, CYP3A5), related molecules (POR, PPARA) and membrane transporters involved in the metabolism of calcineurin inhibitors. Given the genetic diversity across the African continent, it is imperative to generate pharmacogenetic data, especially in the era of personalized medicine and emphasizes the need for studies specific to African populations. The study of allelic variants in populations where they have greater frequencies will help answer questions regarding their impact. We aim to fill the knowledge gaps by reviewing existing research and highlighting areas where African research can contribute.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11404701/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141898013","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}
引用次数: 0
Assessing the utility of measurement methods applied in economic evaluations of pharmacogenomics applications. 评估药物基因组学应用经济评估中采用的测量方法的实用性。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-01-30 DOI: 10.2217/pgs-2023-0221
Vasileios Fragoulakis, Margarita-Ioanna Koufaki, Korina Tzerefou, Konstantinos Koufou, George P Patrinos, Christina Mitropoulou
{"title":"Assessing the utility of measurement methods applied in economic evaluations of pharmacogenomics applications.","authors":"Vasileios Fragoulakis, Margarita-Ioanna Koufaki, Korina Tzerefou, Konstantinos Koufou, George P Patrinos, Christina Mitropoulou","doi":"10.2217/pgs-2023-0221","DOIUrl":"10.2217/pgs-2023-0221","url":null,"abstract":"<p><p>An increasing number of economic evaluations are published annually investigating the economic effectiveness of pharmacogenomic (PGx) testing. This work was designed to provide a comprehensive summary of the available utility methods used in cost-effectiveness/cost-utility analysis studies of PGx interventions. A comprehensive review was conducted to identify economic analysis studies using a utility valuation method for PGx testing. A total of 82 studies met the inclusion criteria. A majority of studies were from the USA and used the EuroQol-5D questionnaire, as the utility valuation method. Cardiovascular disorders was the most studied therapeutic area while discrete-choice studies mainly focused on patients' willingness to undergo PGx testing. Future research in applying other methodologies in PGx economic evaluation studies would improve the current research environment and provide better results.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139574561","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}
引用次数: 0
Association between CYP3A4, CYP3A5 and ABCB1 genotype and tacrolimus treatment outcomes among allogeneic HSCT patients. 异基因造血干细胞移植患者的 CYP3A4、CYP3A5 和 ABCB1 基因型与他克莫司治疗效果之间的关系。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-01-08 DOI: 10.2217/pgs-2023-0204
Teresa T Ho, Janelle B Perkins, Rebecca Gonzalez, James Kevin Hicks, Ronald Alvarez Martinez, Katie Duranceau, Brianna North, Jongphil Kim, Jamie K Teer, Jiqiang Yao, Sean J Yoder, Taiga Nishihori, Nelli Bejanyan, Joseph Pidala, Hany Elmariah
{"title":"Association between <i>CYP3A4</i>, <i>CYP3A5</i> and <i>ABCB1</i> genotype and tacrolimus treatment outcomes among allogeneic HSCT patients.","authors":"Teresa T Ho, Janelle B Perkins, Rebecca Gonzalez, James Kevin Hicks, Ronald Alvarez Martinez, Katie Duranceau, Brianna North, Jongphil Kim, Jamie K Teer, Jiqiang Yao, Sean J Yoder, Taiga Nishihori, Nelli Bejanyan, Joseph Pidala, Hany Elmariah","doi":"10.2217/pgs-2023-0204","DOIUrl":"10.2217/pgs-2023-0204","url":null,"abstract":"<p><p><b>Aim:</b> Successful treatment with tacrolimus to prevent graft versus host disease (GVHD) and minimize tacrolimus-related toxicities among allogeneic hematopoietic cell transplantation (alloHCT) recipients is contingent upon quickly achieving and maintaining concentrations within a narrow therapeutic range. The primary objective was to investigate associations between <i>CYP3A4, CYP3A5</i> or <i>ABCB1</i> genotype and the proportion of patients that attained an initial tacrolimus goal concentration following initiation of intravenous (iv.) and conversion to oral administration. <b>Materials & methods:</b> We retrospectively evaluated 86 patients who underwent HLA-matched (8/8) related donor alloHCT and were prescribed a tacrolimus-based regimen for GVHD prophylaxis. <b>Results & conclusion:</b> The findings of the present study suggests that <i>CYP3A5</i> genotype may impact attainment of initial therapeutic tacrolimus concentrations with oral administration in alloHCT recipients.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139378171","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}
引用次数: 0
Rapid point of care testing: the next frontier in pharmacogenomics. 快速护理点检测：药物基因组学的下一个前沿。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-07-23 DOI: 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":null,"pages":null},"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}
引用次数: 0
Epigenetic regulation of drug metabolism in aging: utilizing epigenetics to optimize geriatric pharmacotherapy. 衰老过程中药物代谢的表观遗传调控：利用表观遗传学优化老年药物疗法。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2023-12-21 DOI: 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":null,"pages":null},"PeriodicalIF":2.1,"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}
引用次数: 0
MIR27A rs895819 TC genotype increases risk of fluoropyrimidine-induced severe toxicity independently of DPYD variations. MIR27A rs895819 TC 基因型会增加氟嘧啶诱发严重毒性的风险，与 DPYD 变异无关。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-02-14 DOI: 10.2217/pgs-2023-0223
Georgia Ragia, Eirini Biziota, Triantafyllia Koukaki, Kyriakos Amarantidis, Vangelis G Manolopoulos
{"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":null,"pages":null},"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}
引用次数: 0
Accuracy and technical characteristics of CYP2C19 point of care tests: a systematic review. CYP2C19 护理点检测的准确性和技术特点：系统综述。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-09-04 DOI: 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":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Screening and analysis of single nucleotide polymorphism in the 3'-UTR microRNA target regions and its implications for lung tumorigenesis. 3'-UTR微RNA靶区单核苷酸多态性的筛选和分析及其对肺肿瘤发生的影响
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-05-30 DOI: 10.1080/14622416.2024.2355864
Anmol Bhatia, Atul Kumar Upadhyay, Siddharth Sharma
{"title":"Screening and analysis of single nucleotide polymorphism in the 3'-UTR microRNA target regions and its implications for lung tumorigenesis.","authors":"Anmol Bhatia, Atul Kumar Upadhyay, Siddharth Sharma","doi":"10.1080/14622416.2024.2355864","DOIUrl":"10.1080/14622416.2024.2355864","url":null,"abstract":"<p><p><b>Aim:</b> The study aims to identify high-impact single nucleotide polymorphisms (SNPs) in miRNA target sites of genes associated with lung cancer.<b>Materials & methods:</b> Lung cancer genes were obtained from Uniprot KB. miRNA target site SNPs were mined from MirSNP, miRdSNP and TargetScan. SNPs were shortlisted based on binding impact, minor allele frequency and conservation. Gene expression was analyzed in genes with high-impact SNPs in healthy versus lung cancer tissue. Additionally, enrichment, pathway and network analyzes were performed.<b>Results:</b> 19 high-impact SNPs were identified in miRNA target sites of lung cancer-associated genes. These SNPs affect miRNA binding and gene expression. The genes are involved in key cancer related pathways.<b>Conclusion:</b> The identified high-impact miRNA target site SNPs and associated genes provide a starting point for case-control studies in lung cancer patients in different populations.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11404702/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141331622","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}
引用次数: 0
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