Pharmacogenomics最新文献

Impact of ABCB1 gene polymorphism on clopidogrel plasma concentration and cardiovascular events in post-PCI patients. ABCB1基因多态性对pci术后患者氯吡格雷血药浓度及心血管事件的影响

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-07-21 DOI: 10.1080/14622416.2025.2534325

Abdur Razaq, Waheed Iqbal, Syed Tahir Shah, Muhammad Abdur Rauf, Nasser M Aldekhail, Filip Van Nieuwerburgh, Sami Siraj

{"title":"Impact of ABCB1 gene polymorphism on clopidogrel plasma concentration and cardiovascular events in post-PCI patients.","authors":"Abdur Razaq, Waheed Iqbal, Syed Tahir Shah, Muhammad Abdur Rauf, Nasser M Aldekhail, Filip Van Nieuwerburgh, Sami Siraj","doi":"10.1080/14622416.2025.2534325","DOIUrl":"https://doi.org/10.1080/14622416.2025.2534325","url":null,"abstract":"Aim: This study investigated the impact of ABCB1 gene polymorphisms on clopidogrel absorption and therapeutic response by analyzing plasma levels of the clopidogrel carboxylic acid metabolite (CAM), and cardiovascular events (CVEs) in patients undergoing percutaneous coronary intervention (PCI).Methods: A prospective cohort study of 264 post-PCI patients was conducted in Peshawar, Pakistan. CVEs over 12 months were recorded. Plasma concentrations of CAM were measured by high-performance liquid chromatography (HPLC), while the ABCB1 gene (rs1045642) was genotyped by Sanger sequencing to determine associations between genetic variants, CAM levels, and clinical outcomes.Results: The study documented 54 CVEs, including 13 deaths, 6 stent thromboses, 10 recurrent myocardial infarctions, 23 ischemic events requiring hospitalization, and 2 strokes. The analysis showed that 31.1% of patients had subtherapeutic CAM levels ( <2000 ng/ml), while 68.9% had therapeutic levels. Genetic analysis identified 65% as poor absorbers (CT/TT genotypes) and 35% as good absorbers (CC genotype), while CAM levels were significantly associated with the CT/TT genotype (p < 0.005).Conclusion: This study linking ABCB1 variation to CAM concentration and therapeutic outcomes. There was a significant association between ABCB1 variants and CAM concentrations. However, no association was found between ABCB1 polymorphisms and CVEs.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-8"},"PeriodicalIF":1.9,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675442","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

Variation in the ABC transporter genes and association with clinical outcomes in colorectal cancer: a brief review. 结直肠癌ABC转运蛋白基因变异及其与临床预后的关系：综述

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-07-18 DOI: 10.1080/14622416.2025.2534319

Zari Salahud Din, Maryam Saqib, Sehrish Zafar, Nyla Munawar, Sagheer Ahmed

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 : 2025-04-01 Epub 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":"Objective: To explore the impact of low miR-369-3p expression on the resistance of PC-9 cells to osimertinib.Methods: 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.Results: 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 (p < 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 (p < 0.05). Conversely, transfection with miR-369 mimics led to an increase in miR-369-3p levels accompanied by a decrease in PTPN12 protein (p < 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 (p < 0.05).Conclusion: miR-369-3p plays a crucial role in modulating drug resistance in PC-9/AZD9291 cells against osimertinib through regulation of PTPN12.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"165-170"},"PeriodicalIF":1.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12203845/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

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 : 2025-04-01 Epub 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":"10.1080/14622416.2025.2510186","url":null,"abstract":"Background: 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 n = 550 participants 3 years after randomization to green tea or placebo intake.Methods: 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.Results: The gene showing the strongest association with the outcome in both, SMA as well as regression analysis, was the organic anion transporter SLCO1A2. 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] p = 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], p = 0.03).Conclusion: Individuals with genetic variants in the transporter SLCO1A2 may be protected against colon adenoma irrespective of the green tea intake. In nonvariant carriers of SLCO1A2, green tea was associated with a clear benefit in outcome (18% risk reduction).","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"157-164"},"PeriodicalIF":1.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12203844/pdf/","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":"OA","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 : 2025-04-01 Epub 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":"10.1080/14622416.2025.2504862","url":null,"abstract":"Background: 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.Aim: 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.Methods: 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.Results: 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.Conclusion: 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.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"143-156"},"PeriodicalIF":1.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12203843/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic polymorphisms and adverse reactions to antituberculosis therapy. 基因多态性和抗结核治疗的不良反应。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-04-01 Epub Date: 2025-06-20 DOI: 10.1080/14622416.2025.2509479

Hannah M Gunter, Phuti Choshi, Tafadzwa Chimbetete, Sarah Pedretti, Rannakoe J Lehloenya, Phumla Z Sinxadi, Marylyn D Ritchie, Elizabeth J Phillips, David W Haas, Jonny G Peter

{"title":"Genetic polymorphisms and adverse reactions to antituberculosis therapy.","authors":"Hannah M Gunter, Phuti Choshi, Tafadzwa Chimbetete, Sarah Pedretti, Rannakoe J Lehloenya, Phumla Z Sinxadi, Marylyn D Ritchie, Elizabeth J Phillips, David W Haas, Jonny G Peter","doi":"10.1080/14622416.2025.2509479","DOIUrl":"10.1080/14622416.2025.2509479","url":null,"abstract":"Tuberculosis is the leading cause of death from a single infectious agent globally, with the highest burden in low-and middle-income countries. Successful treatment requires prolonged administration of multiple drugs. The increasing threat of multidrug-resistant tuberculosis has prompted the development of a robust pipeline for new drugs. While generally safe and well tolerated, adverse drug reactions (ADRs) to TB drugs have a considerable impact on treatment outcomes. Pharmacogenetic testing has been implemented for some diseases to identify at-risk individuals and prevent ADRs. For tuberculosis treatment, the use of pharmacogenetic testing to optimize complex regimens and avoid ADRs is appealing, but there has been minimal implementation. To improve the use of pharmacogenetics, understanding both the pharmacology of relevant drugs and population-specific pathophysiology of ADRs are essential. This review highlights the major treatment-limiting ADRs with TB drugs, the current understanding of drug metabolic pathways, ADR pathophysiology, and known pharmacogenetic risk alleles. We highlight research gaps and barriers to meaningful clinical use and implementation of pharmacogenomic testing to prevent adverse reactions to TB drugs.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"207-221"},"PeriodicalIF":1.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12203857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333723","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

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 : 2025-04-01 Epub 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":"10.1080/14622416.2025.2504865","url":null,"abstract":"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 CYP2D6, CYP3A4, UMOD, and ACE 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.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"183-206"},"PeriodicalIF":1.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12203855/pdf/","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":"OA","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 : 2025-04-01 Epub 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":"10.1080/14622416.2025.2504863","url":null,"abstract":"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.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"171-182"},"PeriodicalIF":1.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12203841/pdf/","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":"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":"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.","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

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":"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 UGT1A9, UGT2B7, CYP3A5, ABCB1,ABCC2 and TPMT significantly affect drug metabolism, efficacy, and toxicity. For instance, ABCB1 polymorphisms influence drug transport and bioavailability, impacting tacrolimus and glucocorticoid response, while ABCC2 variants alter MPA clearance, potentially affecting therapeutic outcomes, UGT1A9 and UGT2B7 variants influence mycophenolic acid metabolism, CYP3A5 impacts tacrolimus dosing, TPMT determines azathioprine metabolism, and CYP2C19 and CYP2B6 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.","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