Pharmacogenomics最新文献

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Genomewide association analysis on green tea chemoprevention of colorectal adenoma: the importance of SLCO1A2 variants. 绿茶化学预防结直肠腺瘤的全基因组关联分析:SLCO1A2变异的重要性
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-05-28 DOI: 10.1080/14622416.2025.2510186
J Stingl, C Scholl, M Steffens, P Koczera, R Muche, F Rohlmann, Th Ettrich, Th Seufferlein
{"title":"Genomewide association analysis on green tea chemoprevention of colorectal adenoma: the importance of SLCO1A2 variants.","authors":"J Stingl, C Scholl, M Steffens, P Koczera, R Muche, F Rohlmann, Th Ettrich, Th Seufferlein","doi":"10.1080/14622416.2025.2510186","DOIUrl":"https://doi.org/10.1080/14622416.2025.2510186","url":null,"abstract":"<p><strong>Background: </strong>Green tea extract was tested for the secondary prevention of colorectal adenoma in the placebo-controlled MIRACLE trial. Genome-wide screening on adenoma recurrence was performed in <i>n</i> = 550 participants 3 years after randomization to green tea or placebo intake.</p><p><strong>Methods: </strong>Single Marker Analysis followed by regression analyses was calculated for all 700.078 markers assuming an additive genetic model and including all covariates from the main MIRACLE trial analysis. The outcome was an adenoma rate at 3-year follow-up colonoscopy comparing participants carrying a genetic variant versus wildtype.</p><p><strong>Results: </strong>The gene showing the strongest association with the outcome in both, SMA as well as regression analysis, was the organic anion transporter <i>SLCO1A2</i>. In the variant carriers, the adenoma frequency was 41.4% in the green tea group and 35.7% in the placebo group (RR 1.16 [0.81; 1.65] <i>p</i> = 0.61), whereas in the nonvariant carriers, the frequency of reoccurrence was 54.5% in the green tea group and 66.5% in the placebo group (RR 0.82 [0.69; 0.97], <i>p</i> = 0.03).</p><p><strong>Conclusion: </strong>Individuals with genetic variants in the transporter SLCO1A2 may be protected against colon adenoma irrespective of the green tea intake. In nonvariant carriers of <i>SLCO1A2</i>, green tea was associated with a clear benefit in outcome (18% risk reduction).</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-8"},"PeriodicalIF":1.9,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144161254","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
Hypertension precision medicine: the promise and pitfalls of pharmacogenomics. 高血压精准医学:药物基因组学的希望与陷阱。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-05-27 DOI: 10.1080/14622416.2025.2504865
Nhu Ngoc Le, Iain Frater, Stefanie Lip, Sandosh Padmanabhan
{"title":"Hypertension precision medicine: the promise and pitfalls of pharmacogenomics.","authors":"Nhu Ngoc Le, Iain Frater, Stefanie Lip, Sandosh Padmanabhan","doi":"10.1080/14622416.2025.2504865","DOIUrl":"https://doi.org/10.1080/14622416.2025.2504865","url":null,"abstract":"<p><p>Pharmacogenomics (PGx) has the potential to revolutionize hypertension management by tailoring antihypertensive therapy based on genetic profiles. Despite significant advances in genomic research, the clinical translation of PGx in hypertension remains challenging due to genetic complexity, variability in drug response, and implementation barriers. This review explores the genetic basis of hypertension, highlighting key pharmacogenomic markers that influence antihypertensive metabolism and efficacy, including <i>CYP2D6, CYP3A4, UMOD</i>, and <i>ACE</i> polymorphisms. We also examine the role of Mendelian randomization, polygenic risk scores in drug development and stratifying hypertension treatment response. While PGx offers opportunities for personalized medicine - such as reducing trial-and-error prescribing and improving adherence - several obstacles hinder its widespread adoption. These include limited clinical actionability, lack of large-scale randomized controlled trials, cost constraints, and concerns about equity and accessibility. Furthermore, drug-gene interactions and phenoconversion add complexity to implementation. Emerging technologies, including artificial intelligence-driven prescribing, microbiome integration, and pharmacoepigenomics, may enhance PGx precision in hypertension management. However, further research, clinical validation, and policy frameworks are necessary before PGx can be routinely incorporated into hypertension care. This review critically evaluates both the promise and limitations of PGx in hypertension, offering insights into the future of precision medicine in cardiovascular health.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-24"},"PeriodicalIF":1.9,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151335","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
Machine learning models for pharmacogenomic variant effect predictions - recent developments and future frontiers. 药物基因组变异效应预测的机器学习模型-最新发展和未来前沿。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-05-22 DOI: 10.1080/14622416.2025.2504863
Roman Tremmel, Antoine Honore, Yoomi Park, Yitian Zhou, Ming Xiao, Volker M Lauschke
{"title":"Machine learning models for pharmacogenomic variant effect predictions - recent developments and future frontiers.","authors":"Roman Tremmel, Antoine Honore, Yoomi Park, Yitian Zhou, Ming Xiao, Volker M Lauschke","doi":"10.1080/14622416.2025.2504863","DOIUrl":"https://doi.org/10.1080/14622416.2025.2504863","url":null,"abstract":"<p><p>Pharmacogenomic variations in genes involved in drug disposition and in drug targets is a major determinant of inter-individual differences in drug response and toxicity. While the effects of common variants are well established, millions of rare variations remain functionally uncharacterized, posing a challenge for the implementation of precision medicine. Recent advances in machine learning (ML) have significantly enhanced the prediction of variant effects by considering DNA as well as protein sequences, as well as their evolutionary conservation and haplotype structures. Emerging deep learning models utilize techniques to capture evolutionary conservation and biophysical properties, and ensemble approaches that integrate multiple predictive models exhibit increased accuracy, robustness, and interpretability. This review explores the current landscape of ML-based variant effect predictors. We discuss key methodological differences and highlight their strengths and limitations for pharmacogenomic applications. We furthermore discuss emerging methodologies for the prediction of substrate-specificity and for consideration of variant epistasis. Combined, these tools improve the functional effect prediction of drug-related variants and offer a viable strategy that could in the foreseeable future translate comprehensive genomic information into pharmacogenetic recommendations.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-12"},"PeriodicalIF":1.9,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120568","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
Barriers and facilitators for implementing a pharmacogenetic passport: lessons learned from reusing sequencing data. 实施药物遗传学通行证的障碍和促进因素:从重复使用测序数据中吸取的教训。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-05-21 DOI: 10.1080/14622416.2025.2504862
Anja H A Roelofsen, Loes Lindiwe Kreeftenberg, Carla G van El, Lidewij Henneman, Tessel Rigter, Daoud Sie, Pierre M Bet, Martina C Cornel
{"title":"Barriers and facilitators for implementing a pharmacogenetic passport: lessons learned from reusing sequencing data.","authors":"Anja H A Roelofsen, Loes Lindiwe Kreeftenberg, Carla G van El, Lidewij Henneman, Tessel Rigter, Daoud Sie, Pierre M Bet, Martina C Cornel","doi":"10.1080/14622416.2025.2504862","DOIUrl":"https://doi.org/10.1080/14622416.2025.2504862","url":null,"abstract":"<p><strong>Background: </strong>Pharmacogenetics uses individuals' genetic profiles to optimize drug treatment and prevent adverse reactions. One strategy to obtain information on pharmacogenes is to reuse sequencing data for a pharmacogenetic passport, providing information preemptively to healthcare professionals for utilization throughout a patient's lifetime.</p><p><strong>Aim: </strong>To explore stakeholders' perceived barriers and facilitators and future perspectives of implementing a pharmacogenetic passport based on experiences from reusing sequencing data, in a Dutch University Medical Center.</p><p><strong>Methods: </strong>Semi-structured interviews were conducted among 21 stakeholders. Interviews were analyzed using thematic analysis, and themes were grouped under the constructs of structure, culture, and practice.</p><p><strong>Results: </strong>Perceived implementation barriers included inadequate data infrastructure, limited knowledge of pharmacogenetics, lack of (visible) guidelines, unequal access, unclear division of tasks and unclear procedures, and other hospital priorities. Perceived facilitators included the ease, efficiency, and affordability to obtain pharmacogenetic test results from reused sequencing data, stakeholders' positive attitudes about patient impacts of a pharmacogenetic passport, and that patient control of their health data is provided.</p><p><strong>Conclusion: </strong>When considering the implementation of a pharmacogenetic passport, strategies can be developed to diminish barriers and strengthen facilitators. It is important to focus on data infrastructure, (visibility of) guidelines, clear division of tasks, and pharmacogenetic education.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-14"},"PeriodicalIF":1.9,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111009","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
miR-369-3p regulates the drug resistance of lung cancer cells by targeting PTPN12. miR-369-3p通过靶向PTPN12调控肺癌细胞的耐药。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-05-14 DOI: 10.1080/14622416.2025.2504864
Yan Wang, XiaoLi Wang, Jun Xu, Didi Zhang, YongFeng Cao
{"title":"miR-369-3p regulates the drug resistance of lung cancer cells by targeting PTPN12.","authors":"Yan Wang, XiaoLi Wang, Jun Xu, Didi Zhang, YongFeng Cao","doi":"10.1080/14622416.2025.2504864","DOIUrl":"10.1080/14622416.2025.2504864","url":null,"abstract":"<p><strong>Objective: </strong>To explore the impact of low miR-369-3p expression on the resistance of PC-9 cells to osimertinib.</p><p><strong>Methods: </strong>The PC-9/AZD9291 cell line was established with osimertinib. Real-time quantitative PCR was employed to measure the expression levels of miR-369-3p in both PC-9 and PC-9/AZD9291 cells, and Western blotting was utilized to detect PTPN12 protein expression. A dual-luciferase reporter assay was conducted to investigate the target relationship between miR-369-3p and PTPN12. CCK8 assays were performed to evaluate the impact of miR-369-3p inhibition on drug resistance.</p><p><strong>Results: </strong>In comparison to PC-9 cells, there was a significant upregulation of miR-369-3p and downregulation of PTPN12 protein in PC-9/AZD9291 cells (<i>p</i> < 0.05). Transfection with the miR-369-3p inhibitor resulted in decreased levels of miR-369-3p and increased expression of PTPN12 protein in PC-9/AZD9291 cells (<i>p</i> < 0.05). Conversely, transfection with miR-369 mimics led to an increase in miR-369-3p levels accompanied by a decrease in PTPN12 protein (<i>p</i> < 0.05). Notably, treatment with the miR-369-3p inhibitor lowered the IC50 value for PC-9/AZD9291 cells; however, following downregulation of PTPN12 using PTPN12-siRNA, sensitivity due to low expression of miR-369-3p was significantly diminished (<i>p</i> < 0.05).</p><p><strong>Conclusion: </strong>miR-369-3p plays a crucial role in modulating drug resistance in PC-9/AZD9291 cells against osimertinib through regulation of PTPN12.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-6"},"PeriodicalIF":1.9,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144027339","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 to optimize immunosuppressant therapy in systemic lupus erythematosus: a scoping review. 药物遗传学优化免疫抑制治疗系统性红斑狼疮:范围综述。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-02-01 Epub Date: 2025-04-10 DOI: 10.1080/14622416.2025.2490464
Alim Khodimul Rahmat, Irmasari, Zahrotun Nafiah, Zullies Ikawati
{"title":"Pharmacogenetics to optimize immunosuppressant therapy in systemic lupus erythematosus: a scoping review.","authors":"Alim Khodimul Rahmat, Irmasari, Zahrotun Nafiah, Zullies Ikawati","doi":"10.1080/14622416.2025.2490464","DOIUrl":"10.1080/14622416.2025.2490464","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a complex autoimmune disease requiring immunosuppressive medications to control symptoms and prevent organ damage. This review explores the influence of genetic polymorphisms on the pharmacokinetics and therapeutic responses of immunosuppressants in SLE. A total of 37 studies were reviewed, focusing on mycophenolic acid, tacrolimus, azathioprine, glucocorticoids, and cyclophosphamide. Genetic variants in <i>UGT1A9, UGT2B7, CYP3A5, ABCB1,ABCC2</i> and <i>TPMT</i> significantly affect drug metabolism, efficacy, and toxicity. For instance, <i>ABCB1</i> polymorphisms influence drug transport and bioavailability, impacting tacrolimus and glucocorticoid response, while <i>ABCC2</i> variants alter MPA clearance, potentially affecting therapeutic outcomes, <i>UGT1A9</i> and <i>UGT2B7</i> variants influence mycophenolic acid metabolism, <i>CYP3A5</i> impacts tacrolimus dosing, <i>TPMT</i> determines azathioprine metabolism, and <i>CYP2C19</i> and <i>CYP2B6</i> affect cyclophosphamide processing. These genetic differences can alter treatment effectiveness and risk of adverse effects. However, most pharmacogenetic studies focus on organ transplantation, leaving a critical gap in SLE-specific research, particularly among diverse populations. Addressing this gap is essential to optimizing personalized treatment for SLE. Integrating pharmacogenetics into clinical practice holds great potential to enhance the safety, efficacy, and outcomes of immunosuppressive therapy in SLE. This review highlights the urgent need for further studies to advance precision medicine for SLE patients.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"129-142"},"PeriodicalIF":1.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12128666/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015713","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
Utilization of polygenic risk scores in drug development protocols. 多基因风险评分在药物开发方案中的应用。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-02-01 Epub Date: 2025-04-09 DOI: 10.1080/14622416.2025.2489916
Michelle A Pressly, Robert Schuck, Padmaja Mummaneni, Youssef M Roman, Michael Pacanowski
{"title":"Utilization of polygenic risk scores in drug development protocols.","authors":"Michelle A Pressly, Robert Schuck, Padmaja Mummaneni, Youssef M Roman, Michael Pacanowski","doi":"10.1080/14622416.2025.2489916","DOIUrl":"10.1080/14622416.2025.2489916","url":null,"abstract":"<p><p>The development of polygenic risk scores (PRSs), which make use of genetic testing to assess an individual's risk of developing certain diseases or conditions based on collective genetic variant information, can be applied in drug development to enrich clinical trials or predict response to treatment. From querying documents submitted to the Food & Drug Administration, the landscape of use of PRSs across time shows increased use in guiding clinical trials. Of the clinical trial protocols submitted, most were in the therapeutic areas of neurology, radiology (imaging and diagnostic pharmaceuticals), psychiatry, and oncology. Use of PRSs in clinical trials is most frequent in early drug development (phase 1, phase 1/2, or phase 3) and generally supports secondary or exploratory analyses. Additionally, about half of the protocols developed novel PRSs, and the other half used preexisting PRSs. As researchers, regulators, and clinicians aim to understand the results and implications of PRSs in clinical trials, the continued use of PRSs, despite being less common, reinforces the need for further exploration.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"75-79"},"PeriodicalIF":1.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12118405/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811984","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
Implementation of clinical pharmacogenetic testing in medically underserved patients: a narrative review. 在医疗服务不足的患者中实施临床药物遗传学检测:叙述性回顾。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-02-01 Epub Date: 2025-04-11 DOI: 10.1080/14622416.2025.2490461
Brian E Gawronski, Irina Fofanova, Angel M Miranda, Jean G Malave, Julio D Duarte
{"title":"Implementation of clinical pharmacogenetic testing in medically underserved patients: a narrative review.","authors":"Brian E Gawronski, Irina Fofanova, Angel M Miranda, Jean G Malave, Julio D Duarte","doi":"10.1080/14622416.2025.2490461","DOIUrl":"10.1080/14622416.2025.2490461","url":null,"abstract":"<p><p>As an emerging health technology, pharmacogenetic (PGx) testing has the capacity to improve medication therapy. However, implementation in medically underserved populations (MUPs) remains limited, which has the potential to increase healthcare disparities. While there is no single accepted definition for MUPs, demographic, socioeconomic, cultural, and geographic factors can lead to reduced access to healthcare, which contributes to disparate health outcomes in these populations. In the case of PGx testing, as MUPs have an increased risk of adverse drug events, have lower numbers of healthcare encounters, and are prescribed more medications which can be guided by PGx testing, additional benefits from PGx testing may occur in MUPs. Study of the acceptability and perceptions of PGx testing in MUPs, as reported in literature, provides support for the development of successful PGx testing implementations. Additionally, a few limited pilot PGx testing implementations in MUPs have assessed feasibility. However, further studies establishing the feasibility and effectiveness of PGx testing implementations in MUPs will enable more widespread PGx testing in those who are medically underserved. Thus, this narrative review explores the impact of medical underservice on health, PGx testing's potential impact on MUPs, and the research and early clinical implementations of PGx in MUPs.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"107-119"},"PeriodicalIF":1.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12118388/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144038441","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
Association of SOD1 rs36232792 with opioid use disorder and a novel PCR-RFLP method for SOD2 rs5746136. SOD1 rs36232792与阿片类药物使用障碍的关联及SOD2 rss5746136的新型PCR-RFLP方法
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-02-01 Epub Date: 2025-04-16 DOI: 10.1080/14622416.2025.2490467
Seval Küçükparmaksız, Dilek Kaya Akyüzlü, Selin Özkan Kotiloğlu, Mustafa Danışman
{"title":"Association of <i>SOD1</i> rs36232792 with opioid use disorder and a novel PCR-RFLP method for <i>SOD2</i> rs5746136.","authors":"Seval Küçükparmaksız, Dilek Kaya Akyüzlü, Selin Özkan Kotiloğlu, Mustafa Danışman","doi":"10.1080/14622416.2025.2490467","DOIUrl":"10.1080/14622416.2025.2490467","url":null,"abstract":"<p><strong>Aim: </strong>The aim of this study is to find out the effect of <i>SOD1</i> rs36232792 and <i>SOD2</i> rs5746136 on the risk of opioid use disorder (OUD).</p><p><strong>Methods: </strong>Individuals with OUD (<i>n</i> = 101) and controls (<i>n</i> = 104) were included. <i>SOD1</i> rs36232792 was genotyped by PCR. A novel PCR-RFLP method for <i>SOD2</i> rs5746136 was optimized.</p><p><strong>Results: </strong>A significant difference was observed between individuals with OUD and controls in view of the frequency of 'Ins/Del+Del/Del' genotypes of the <i>SOD1</i> rs36232792 (<i>p</i> = 0.049), but not for <i>SOD2</i> rs5746136 (<i>p</i> = 0.254). The intensity of anxiety and depressive symptoms was significantly higher in individuals with OUD compared to controls (<i>p</i> = 0.001).</p><p><strong>Conclusion: </strong>The <i>SOD1</i> rs36232792 polymorphism could contribute to the risk of OUD in a Turkish population. A novel PCR-RFLP method for <i>SOD2</i> rs5746136 confirmed by sequencing can be used in a research laboratory without advanced equipment.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"95-105"},"PeriodicalIF":1.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12164389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144048015","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
Survey of the utilization of genotype-guided tacrolimus management in United States solid organ transplant centers. 基因型引导他克莫司管理在美国实体器官移植中心的应用调查。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-02-01 Epub Date: 2025-04-09 DOI: 10.1080/14622416.2025.2489920
Ashton Strother, Jeong M Park, Amy L Pasternak
{"title":"Survey of the utilization of genotype-guided tacrolimus management in United States solid organ transplant centers.","authors":"Ashton Strother, Jeong M Park, Amy L Pasternak","doi":"10.1080/14622416.2025.2489920","DOIUrl":"10.1080/14622416.2025.2489920","url":null,"abstract":"<p><strong>Introduction: </strong>Genotype-guided tacrolimus management is not routine in clinical practice despite the availability of Clinical Pharmacogenetics Implementation Consortium dosing guidelines. Prior surveys have evaluated patient and provider perspectives of pharmacogenetics (PGx) in transplant, but limited recent data exists on tacrolimus PGx implementation across United States transplant centers.</p><p><strong>Methods: </strong>An electronic survey was distributed to transplant pharmacists regarding utilization of tacrolimus PGx, methods of implementing PGx, and barriers to clinical implementation. A survey response was requested for each organ program within the transplant center.</p><p><strong>Results: </strong>A total of 90 programs from 69 transplant centers (28.1% of active U.S. transplant centers) responded to the survey. Tacrolimus PGx was utilized for patient care in 14 programs (15.6%). There was substantial variability in the implementation methods and application of tacrolimus PGx results among transplant programs. In programs that had not implemented tacrolimus PGx, common barriers for implementation included PGx testing cost and availability and lack of evidence for clinical utility.</p><p><strong>Conclusion: </strong>Implementation of PGx guided tacrolimus in solid organ transplant centers remains limited with heterogeneity in the implementation approach. Additional research is needed to establish the clinical utility of PGx guided tacrolimus and education on reimbursement and testing resources may help to increase uptake.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"89-94"},"PeriodicalIF":1.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12164375/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144038069","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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