Personalized medicine最新文献_第5页

Association between CYP11B2 rs1799998 genetic variant with essential hypertension and antihypertensive response. CYP11B2 rs1799998基因变异与原发性高血压和降压反应的关系

Personalized medicine Pub Date : 2025-12-01 Epub Date: 2025-12-26 DOI: 10.1080/17410541.2025.2607956

Dalia Abdelrazaq, Yazun Jarrar, Hussein Alhawari, Malek Zihlif

{"title":"Association between CYP11B2 rs1799998 genetic variant with essential hypertension and antihypertensive response.","authors":"Dalia Abdelrazaq, Yazun Jarrar, Hussein Alhawari, Malek Zihlif","doi":"10.1080/17410541.2025.2607956","DOIUrl":"10.1080/17410541.2025.2607956","url":null,"abstract":"Background: Essential hypertension (EH) is influenced by genetic and environmental factors. The CYP11B2 gene, encoding aldosterone synthase, plays a major role in blood pressure regulation. This study investigated the association of the CYP11B2 -344C/T (rs1799998) variant with EH in Jordanians and evaluated its influence on response to amlodipine and valsartan.Methods: A case-control study was conducted involving 309 Jordanian participants (154 hypertensive patients and 155 normotensive controls). Genotyping was performed using PCR-RFLP. Blood pressure (BP) was recorded before and after 1 month of treatment with either 80 mg valsartan or 10 mg amlodipine.Results: Genotype frequencies (TT: 32.0%, TC: 50.5%, CC: 17.5%) and T allele frequency (57.28%) did not differ significantly between hypertensive and control groups (p > 0.05). No association was found between rs1799998 and EH. Both valsartan and amlodipine significantly reduced BP (p < 0.001). While no CYP11B2 -344C/T genotype-dependent response was seen with valsartan, amlodipine was more effective in TT genotype carriers (SBP: 37 ± 2.0 mmHg, DBP: 20 ± 0.2 mmHg) compared to TC and CC (p = 0.028).Conclusion: The CYP11B2 -344C/T variant was not associated with EH in Jordanians, but it was associated with amlodipine response. Further studies with larger sample size are needed to validate these findings.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"467-472"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145835936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The association between DNA repair genes polymorphisms and cisplatin-induced ototoxicity in cancer patients: a systematic review. DNA修复基因多态性与癌症患者顺铂诱导耳毒性之间的关系：一项系统综述。

Personalized medicine Pub Date : 2025-12-01 Epub Date: 2026-01-14 DOI: 10.1080/17410541.2025.2607150

Nabil E Omar, Rana Mekkawi, Salma Said, Omar Abd Elrahman, Fatima Hawasly, Anas Hamad, Hazem Elewa

{"title":"The association between DNA repair genes polymorphisms and cisplatin-induced ototoxicity in cancer patients: a systematic review.","authors":"Nabil E Omar, Rana Mekkawi, Salma Said, Omar Abd Elrahman, Fatima Hawasly, Anas Hamad, Hazem Elewa","doi":"10.1080/17410541.2025.2607150","DOIUrl":"10.1080/17410541.2025.2607150","url":null,"abstract":"Introduction: Ototoxicity is a dose-limiting toxicity of cisplatin. Several DNA repair gene polymorphisms have been investigated for their association with cisplatin-induced ototoxicity (CIO), but their predictive value remains controversial. This systematic review evaluated genetic predisposition to CIO via DNA repair gene polymorphisms.Method: PubMed, SCOPUS, Web of Science, trial registries, and gray literature sources were searched, and reference lists of included studies were screened. Study quality was assessed using the Q-Genie tool, and reporting followed PRISMA guidelines. The protocol was registered on PROSPERO (ID: CRD420251112849).Results: Eight studies with 672 subjects were deemed eligible, investigating nine DNA repair genes (XPA, XPC, ERCC1, ERCC2, XRCC1, EX01, ERCC4, and ERCC5), covering 96 single-nucleotide polymorphisms (SNPs), 54 of which were in DNA repair pathways. AC+CC genotypes of XPC rs2228001 were associated with decreased risk of CIO (OR: 0.20, 95% CI: 0.06-0.70, p = 0.01). Conversely, combining XPC rs2228001 with SNPs in GSTP1, FASL, or MSH3 showed the highest risks (ORs of 32.22, 22.29, and 17.09).Conclusion: Although several DNA repair gene polymorphisms have been explored, findings remain inconsistent and limited by populations and SNPs studied. Larger, well-designed studies with standardized methodologies are needed to confirm these associations and identify genetic markers for predicting high-risk patients for CIO.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"525-532"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145967650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

How to treat BRAF mutant metastatic melanoma? 如何治疗BRAF突变性转移性黑色素瘤？

Personalized medicine Pub Date : 2025-12-01 Epub Date: 2025-11-30 DOI: 10.1080/17410541.2025.2595903

Maria Cristina Sini, Milena Casula, Marina Pisano, Giuseppe Palmieri, Antonella Manca

引用次数: 0

Polygenic risk scores to refine Breast cancer screening and prevention strategies. 多基因风险评分改进乳腺癌筛查和预防策略。

Personalized medicine Pub Date : 2025-12-01 Epub Date: 2025-11-13 DOI: 10.1080/17410541.2025.2581559

E Roberts, N Flaum, S J Howell, Dgr Evans

引用次数: 0

Val66Met polymorphism in the BDNF gene and antidepressant response in depression: an updated meta-analysis. BDNF基因Val66Met多态性与抑郁症的抗抑郁反应：一项最新的meta分析

Personalized medicine Pub Date : 2025-12-01 Epub Date: 2025-08-07 DOI: 10.1080/17410541.2025.2544352

Raphael Enrique Tiongco, Roselle Arbas, Ana Caguiat, Eliezer John Castro, Kristin Chernelle Dela Cruz, Michael John Dominguez, Ma Agatha Anne Guintu, Julie Ann Mercado, Johana Vallo

{"title":"Val66Met polymorphism in the BDNF gene and antidepressant response in depression: an updated meta-analysis.","authors":"Raphael Enrique Tiongco, Roselle Arbas, Ana Caguiat, Eliezer John Castro, Kristin Chernelle Dela Cruz, Michael John Dominguez, Ma Agatha Anne Guintu, Julie Ann Mercado, Johana Vallo","doi":"10.1080/17410541.2025.2544352","DOIUrl":"10.1080/17410541.2025.2544352","url":null,"abstract":"Introduction: The Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene has been linked to antidepressant treatment response in patients with major depressive disorder (MDD), yet findings remain inconclusive. This updated meta-analysis aimed to clarify this association and explore subgroup effects based on antidepressant class and treatment duration.Methods: A systematic search of PubMed, Web of Science, and Google Scholar was conducted through 27 December 2024. Studies were included if they assessed BDNF rs6265 genotypes and antidepressant response in MDD. Data were extracted and pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using Review Manager 5.4 under four genotypic models. Study quality was assessed using the Clark-Baudouin scale, and sensitivity and subgroup analyses were performed.Results: Fourteen studies with 19 datasets were included in the meta-analysis. The overall outcomes indicated no association between the polymorphism and treatment response to antidepressants. Upon removal of outlier studies and studies that deviated from the Hardy-Weinberg equilibrium, significant and homogenous associations were noted with a strong relationship among East Asians treated with selective serotonin reuptake inhibitors (SSRIs).Conclusion: The Met allele may predict favorable antidepressant response in SSRI-treated East Asian patients. Limitations include small sample sizes, moderate study quality, and limited ethnic diversity.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"533-540"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144796582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A population pharmacokinetic model for early follow-up dosing of tacrolimus in Tunisian kidney transplant recipients. 突尼斯肾移植受者他克莫司早期随访剂量的人群药代动力学模型。

Personalized medicine Pub Date : 2025-12-01 Epub Date: 2026-01-05 DOI: 10.1080/17410541.2025.2606641

Amani Abderahmene, Marith I Francke, Meriam Ammar, Louise M Andrews, Dennis A Hesselink, Dorra Amor, Wissal Sahtout, Azzabi Awatif, Ali Bouslama, Dorsaf Zellama, Asma Omezzine, Brenda C M De Winter

{"title":"A population pharmacokinetic model for early follow-up dosing of tacrolimus in Tunisian kidney transplant recipients.","authors":"Amani Abderahmene, Marith I Francke, Meriam Ammar, Louise M Andrews, Dennis A Hesselink, Dorra Amor, Wissal Sahtout, Azzabi Awatif, Ali Bouslama, Dorsaf Zellama, Asma Omezzine, Brenda C M De Winter","doi":"10.1080/17410541.2025.2606641","DOIUrl":"10.1080/17410541.2025.2606641","url":null,"abstract":"Introduction: Tacrolimus is the cornerstone of immunosuppressive therapy in kidney transplantation. However, it exhibits significant pharmacokinetic (PK) variability among patients. Therefore, Population Pharmacokinetic (PopPK) modeling is crucial for personalized tacrolimus treatment. While PopPK models have been extensively developed for transplant patients in Asian and Caucasian populations, it is true that limited data are available for Arab/North-African populations. Thus, our objective was to develop a PopPK model for the Tunisian population to optimize tacrolimus treatment after kidney transplantation.Methods: Data on tacrolimus exposure and other patient factors were collected for the first 3 months after kidney transplantation. Genotyping for 6-SNPs was performed. The PK analysis was performed using nonlinear mixed-effects modeling.Results: A total of 1901 whole-blood pre-dose tacrolimus concentrations (C0) of 196 Tunisian kidney transplant recipients were collected and described using a two-compartment model. CYP3A5*1 carriers had a 1.28-fold higher tacrolimus clearance (CL/F) compared to non-carriers. Higher body mass index (BMI) and lower hematocrit resulted in increased tacrolimus CL/F.Conclusion: In the first 3 months post-transplant, tacrolimus CL/F was significantly influenced by CYP3A5 genotype, BMI, hematocrit, and time after transplantation. The model supports individualized dose adjustment; prospective external validation and a simple dose-adjustment algorithm are warranted to facilitate clinical implementation.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"455-465"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145902110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Leveraging oncology clinical case report data through the Cancer Knowledgebase (CKB). 利用肿瘤临床病例报告数据通过癌症知识库（CKB）。

Personalized medicine Pub Date : 2025-12-01 Epub Date: 2025-11-03 DOI: 10.1080/17410541.2025.2581563

Rewatee H Gokhale, Cara M Statz, Taofei Yin, Ryan P Russell, Sarah Edie, Christine E Lehman, Sara E Patterson

{"title":"Leveraging oncology clinical case report data through the Cancer Knowledgebase (CKB).","authors":"Rewatee H Gokhale, Cara M Statz, Taofei Yin, Ryan P Russell, Sarah Edie, Christine E Lehman, Sara E Patterson","doi":"10.1080/17410541.2025.2581563","DOIUrl":"10.1080/17410541.2025.2581563","url":null,"abstract":"Aims: Clinical case reports in oncology are an untapped resource of patient data that include relationships between molecular alterations, tumor types, and response to targeted therapy. A current challenge to widespread utilization of case reports in clinical practice is the lack of systematic organization of clinical evidence across disease types, patient outcomes, therapies, and associated molecular features. To address this challenge, we sought to demonstrate the utility of Cancer Knowledgebase (CKB) (https://ckb.genomenon.com/) in interpreting oncology case report data for health care providers.Methods: We analyzed data from 5527 manually curated case reports in CKB to gain insights related to treatment options and patient response associated with specific molecular alterations.Results: Each case report in CKB is represented as a unique efficacy evidence annotation and is associated with a specific molecular profile, therapy, indication, and response to therapy. Efficacy evidence from case reports spans over 500 genes, 2800 molecular profiles, and 300 tumor types, including several rare cancers and pediatric tumor types.Conclusion: CKB is a powerful resource for leveraging case reports to identify treatment options for patients with rare cancers and oncogenic variants, patients for whom multiple therapies exist, and patients experiencing resistance to first-line therapy.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"379-391"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145440373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Tailoring pediatric vancomycin doses: achieving therapeutic levels and minimizing toxicity in oncology patients. 调整儿科万古霉素剂量：达到治疗水平和最小化肿瘤患者的毒性。

Personalized medicine Pub Date : 2025-12-01 Epub Date: 2025-10-08 DOI: 10.1080/17410541.2025.2565143

Nadeen Hossam, Dalia Makhlouf, Ahmed Elzeiny, Akram Elzeiny, Sherif Kamal, Omneya Hassanien, Lobna Shalaby, Mohamed Nagy

{"title":"Tailoring pediatric vancomycin doses: achieving therapeutic levels and minimizing toxicity in oncology patients.","authors":"Nadeen Hossam, Dalia Makhlouf, Ahmed Elzeiny, Akram Elzeiny, Sherif Kamal, Omneya Hassanien, Lobna Shalaby, Mohamed Nagy","doi":"10.1080/17410541.2025.2565143","DOIUrl":"10.1080/17410541.2025.2565143","url":null,"abstract":"Background: Vancomycin is a widely used nephrotoxic drug in pediatric oncology. Our aim was to assess the initial vancomycin dosing protocols required for achieving the target therapeutic concentrations of vancomycin between 10 and 20 mcg/ml.Methods: We analyzed 4134 vancomycin trough levels from 1678 pediatric oncology patients treated at CCHE 57357 (2017-2023).Results: Higher initial Vancomycin doses (80 and 100 mg/kg/day) yielded better target levels (45.5%, 51.4%) compared to 60 mg/kg/day (38.1%). Younger patients (<10 years) showed higher sub-therapeutic levels than older ones (53.4% vs. 24.8%, p < 0.0001). Co-administration of nephrotoxic medications increased vancomycin toxicity risk (13.3% vs. 8.9%, p < 0.0001). Weight-based dosing of vancomycin resulted in higher therapeutic levels compared to capping doses at 500 mg.Conclusion: Higher initial vancomycin doses (80-100 mg/kg/day) may be necessary to achieve therapeutic levels in pediatric oncology. Kg dosing beats capping for reaching targets without raising toxicity.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"369-377"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The genetic association of IL-17A rs8193036 with the susceptibility to Alzheimer's disease. IL-17A rs8193036与阿尔茨海默病易感性的遗传关系

Personalized medicine Pub Date : 2025-12-01 Epub Date: 2025-12-19 DOI: 10.1080/17410541.2025.2603166

Yanni Luo, Jinpeng Huang, Zhongcheng An, Xiaoping Zhang

{"title":"The genetic association of IL-17A rs8193036 with the susceptibility to Alzheimer's disease.","authors":"Yanni Luo, Jinpeng Huang, Zhongcheng An, Xiaoping Zhang","doi":"10.1080/17410541.2025.2603166","DOIUrl":"10.1080/17410541.2025.2603166","url":null,"abstract":"Aim: This study aims to validate the relevance of IL-17A rs8193036 polymorphisms in susceptibility to Alzheimer's disease.Materials and methods: A total of 210 healthy volunteers and 260 Alzheimer's disease patients were recruited. The genotype distribution of IL-17A rs8193036 was detected using the TaqMan-qPCR. The RT-qPCR was used to detect the expression of IL-17A in serum. The subjects of each genotype subgroup were statistically compared in terms of IL-17A expression and MMSE score. Logistic regression was used to analyze the independent risk factors for Alzheimer's disease.Results: The CC genotypes of IL-17A rs8193036 showed a high distribution in Alzheimer's disease patients (χ2 = 8.115, OR = 1.879, 95% CI = 1.213-2.910, p = 0.004). The expression of IL-17A was higher, and the ROC curves showed the favorable diagnostic significance of IL-17A in Alzheimer's disease. The serum level of IL-17A was higher in Alzheimer's disease patients with the CC genotype than the TT and CT genotypes. MMSE score of the CC genotype patients was lower than TT and CT genotypes. Gender, Education, MMSE score, IL-17A expression, and rs8193036 CC genotypes were risk factors for Alzheimer's disease.Conclusion: The expression level of IL-17A is higher in Alzheimer's disease patients. The CC genotype of IL-17A rs8193036 is the causative genotype of Alzheimer's disease.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"447-454"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145795839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Patient-Derived Tumour Organoids (PDOs) may help oncologists in clinical practice. 患者来源的肿瘤类器官（PDOs）可以帮助肿瘤学家在临床实践中。

Personalized medicine Pub Date : 2025-12-01 Epub Date: 2025-10-30 DOI: 10.1080/17410541.2025.2581557

Renata Brandi, Alina Catalina Palcau, Emilia Migliano, Sabrina Strano, Giovanni Blandino

{"title":"Patient-Derived Tumour Organoids (PDOs) may help oncologists in clinical practice.","authors":"Renata Brandi, Alina Catalina Palcau, Emilia Migliano, Sabrina Strano, Giovanni Blandino","doi":"10.1080/17410541.2025.2581557","DOIUrl":"10.1080/17410541.2025.2581557","url":null,"abstract":"The use of cancer organoids represents a major advancement in oncology research, addressing the limitations of traditional 2D cell cultures. Optimized protocols now allow the generation of organoids from a wide range of tumor types, including breast, skin, lung, head and neck, and endometrial cancers. These three-dimensional models more accurately replicate the architecture and complexity of patient tumors compared to 2D cultures, spheroids derived from cell lines, or Patient-Derived Tumor Organoids (PDOs) xenografts (PDTXs). This improved fidelity is largely due to the inclusion of the tumor microenvironment (TME) and the potential for immune system interactions, as shown in studies involving co-cultures with peripheral blood mononuclear cells (PBMCs). Patient-Derived Tumor Organoids (PDOs) organoids (PDOs) have emerged as a powerful platform for preclinical testing, enabling the prediction of patient-specific responses to therapies prior to clinical application. Furthermore, PDOs support the discovery of novel biomarkers and the establishment of biobanks, offering valuable insights into cancer biology and helping to overcome persistent challenges in the field. In this context, we will discuss the methods for generating PDOs, the critical role of selecting appropriate culture media and growth factors tailored to different tumor types, and the analytical techniques to verify the extent to which PDOs recapitulate the original tumor tissue.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"503-510"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145403311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0