Personalized medicine最新文献

Association of microRNA SNP variations and SNP-SNP interactions with breast cancer in Yemeni women. 也门妇女微rna SNP变异和SNP-SNP相互作用与乳腺癌的关联

Personalized medicine Pub Date : 2026-08-01 Epub Date: 2026-08-28 DOI: 10.1080/17410541.2026.2725756

Tayseer Al-Baseer, Riyadh Saif-Ali, Waleed Al-Dubai, Afif Al-Nabhi

{"title":"Association of microRNA SNP variations and SNP-SNP interactions with breast cancer in Yemeni women.","authors":"Tayseer Al-Baseer, Riyadh Saif-Ali, Waleed Al-Dubai, Afif Al-Nabhi","doi":"10.1080/17410541.2026.2725756","DOIUrl":"10.1080/17410541.2026.2725756","url":null,"abstract":"Background: The role of microRNA (miRNA) single-nucleotide polymorphisms (SNPs) in breast cancer has been investigated across various populations; however, no published data exist on the association between miRNA SNP-SNP interactions and breast cancer.Methods: This study aimed to evaluate the associations of miRNA SNPs (miR-27a, miR-196a-2, miR-146a, and miR-499a) and miRNA SNP-SNP interactions with breast cancer in Yemeni women. A case-control study was conducted in 200 women with breast cancer and 200 normal women.Results: The dominant models of miR-27a and miR-196a-2 SNPs showed protection against breast cancer (OR = 0.40; 0.66, p = 0.00001; 0.046), whereas the additive models of miR-27a and miR-196a-2 were associated with an increased risk of breast cancer (OR = 2.04; 1.44, p = 0.00002; 0.028, respectively). The interactions of miR-27a AG with miR-196a-2 CC and miR-27a AG with miR-196a-2 CT were significantly associated with an increased risk of breast cancer (OR = 2.19; 4.36, Bonferroni p = 0.04; 0.0016, compared to the reference group miR-27a AA with miR-196a-2 CC, respectively.Conclusion: The study demonstrates that miRNA SNP-SNP interaction enhanced the risk of breast cancer in Yemeni women and provides information about the genetic risk factors that affect the region's susceptibility to breast cancer.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"353-359"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148842643","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

Molecular genetics analysis of genes BCL11A, HBS1L-MYB, and HBG2 variants association in thalassemic children. 地中海贫血儿童BCL11A、HBS1L-MYB和HBG2变异相关基因的分子遗传学分析

Personalized medicine Pub Date : 2026-08-01 Epub Date: 2026-09-08 DOI: 10.1080/17410541.2026.2726977

Rongjian Lu, Kashif Bashir, Hafiza Tayyaba Manzoor, Ayesha Imran, Muhammad Kashif, Umbreen Tabasum, Iqra Saqim Nadeem, Muhammad Umar, Amin A Alamin

{"title":"Molecular genetics analysis of genes BCL11A, HBS1L-MYB, and HBG2 variants association in thalassemic children.","authors":"Rongjian Lu, Kashif Bashir, Hafiza Tayyaba Manzoor, Ayesha Imran, Muhammad Kashif, Umbreen Tabasum, Iqra Saqim Nadeem, Muhammad Umar, Amin A Alamin","doi":"10.1080/17410541.2026.2726977","DOIUrl":"10.1080/17410541.2026.2726977","url":null,"abstract":"Background: Association of the BCL11A (rs4671393), HBG2 (rs7482144), and HBG2HBS1L-MYB (rs28384513, rs9399137, and rs4895441) variants with susceptibility to thalassemia was observed.Methodology: Blood samples from 600 individuals, including 300 thalassemia patients and 300 controls, age- and gender-matched, were collected. DNA was extracted, followed by DNA Amplification.Results: Results show that the homozygous mutant (GG) of variant rs4671393 of the BCL11A gene showed a strong association with increased risk of thalassemia by 3-fold (OR = 3.05; p = 0.0002), heterozygous (AG) also showed a strong association but with a decreased risk (OR = 0.49; p = 0.0028). The heterozygote (AC) and the mutant of variant rs28384513 of gene HBG2HBS1L-MYB showed a significant association by increasing the risk of thalassemia by 2-fold (OR = 2.07; p = 0.001; OR = 2.79; p = 0.0002, respectively). In the case of rs4895441 of gene HBS1L-MYB, the AG heterozygote showed a significant association by increasing the risk by 2.55-fold (OR = 2.55; p = 0.0002). For gene HBG2, the heterozygote (CT) of the rs7482144 variant significantly decreased the risk of thalassemia (OR = 0.37; p = 0.0001). Its homozygous mutant (TT) also showed a significant association, but with an increased risk of thalassemia by 2-fold (OR = 1.81; p = 0.036). .Conclusion: The polymorphisms rs4671393 (BCL11A), rs7482144 (HBG2), and rs28384513, rs9399137, and rs4895441 (HBS1L-MYB) are significantly associated with an increased risk of thalassemia.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"361-370"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148908486","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 historical evolution, technological transformation, and future vision of personalized medicine: a narrative review. 个体化医疗的历史演变、技术变革和未来愿景：叙述性回顾。

Personalized medicine Pub Date : 2026-08-01 Epub Date: 2026-08-10 DOI: 10.1080/17410541.2026.2715375

Rümeysa Karaismailoğlu, Nilgün Bozbuğa

{"title":"The historical evolution, technological transformation, and future vision of personalized medicine: a narrative review.","authors":"Rümeysa Karaismailoğlu, Nilgün Bozbuğa","doi":"10.1080/17410541.2026.2715375","DOIUrl":"10.1080/17410541.2026.2715375","url":null,"abstract":"Introduction: The paradigm of personalized medicine is rapidly shifting from traditional, evidence-based genomics to advanced, data-driven ecosystems. Understanding this transition, supported by the computational tools of precision medicine, is critical for managing high-dimensional biomedical data.Areas covered: Synthesizing current biomedical and medical informatics literature, this narrative review explores the historical milestones of personalized medicine, including the Human Genome Project and next-generation sequencing. It critically examines the contemporary integration of multi-omics data, HL7 FHIR interoperability standards, and the investigational applications of Large Language Models (LLMs) in clinical decision support. Furthermore, we analyze the shift from traditional machine learning to Graph Neural Networks (GNNs), such as node2vec and DeepWalk, for decoding complex biological network topologies.Commentary: The translation of the future personalized medicine vision into broad clinical practice relies on emerging frameworks like Clinical Digital Twins for in silico therapeutic simulations. However, transitioning these technologies from investigational stages to routine practice - and achieving equitable global health outcomes - requires rigorously addressing algorithmic bias, socioeconomic disparities, and breaking institutional data silos through privacy-preserving architectures like Federated Learning. Biomedical informatics acts as the primary catalyst in safely bridging raw genomic data with actionable clinical foresight.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"371-381"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148709183","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

Engineering innovations for precision medicine: sensors, AI biomarkers, and predictive interventions. 精准医疗的工程创新：传感器、人工智能生物标志物和预测性干预。

Personalized medicine Pub Date : 2026-08-01 Epub Date: 2026-08-18 DOI: 10.1080/17410541.2026.2715371

Sarad Pawar Naik Bukke, Chandrashekar Thalluri, Mallikarjun Vasam, Jharna Medhi, Neha Gupta, Milon Selvam Dennison, Muhamad Mustafa Mundu

{"title":"Engineering innovations for precision medicine: sensors, AI biomarkers, and predictive interventions.","authors":"Sarad Pawar Naik Bukke, Chandrashekar Thalluri, Mallikarjun Vasam, Jharna Medhi, Neha Gupta, Milon Selvam Dennison, Muhamad Mustafa Mundu","doi":"10.1080/17410541.2026.2715371","DOIUrl":"10.1080/17410541.2026.2715371","url":null,"abstract":"Precision medicine unifies the latest capabilities from engineering, biotechnology, and artificial intelligence (AI) to deliver data-driven personalized healthcare. This paper summarizes recent advances in biosensor technologies, AI-derived biomarkers, and predictive frameworks used to help identify patients more accurately, monitor their progress continuously, and receive optimized therapies. Relevant peer-reviewed studies were identified in a systematic search of PubMed, Scopus, Web of Science, and Google Scholar for any articles published during the period of 1 January 2015 through 31 December 2024. Advanced biosensors provide immediate feedback regarding the molecular and physiological status of patients, allowing for the rapid definition of new biomarkers, as well as ongoing evaluations of their clinical status and response to treatments. Predictive AI models enhance the precision of patient stratification, treatment planning through adaptive therapies, and predicting individual drug responses, while also lessening the risk of adverse events from treatments. Several emerging technologies illustrate a demonstrated movement toward proactive precision medicine, such as pharmacovigilance based on smart biosensors and closed-loop delivery systems. Key barriers still exist, such as the need for interoperable standards, scientific validation of tools, legal applicability, and ethical issues; therefore, resolving these issues requires collaborative interdisciplinary teams conducting long-term clinical studies.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"411-426"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148803930","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 norepinephrine dosing dilemma in septic shock: a narrative review. 去甲肾上腺素在感染性休克中的剂量困境：一个叙述性的回顾。

Personalized medicine Pub Date : 2026-08-01 Epub Date: 2026-05-19 DOI: 10.1080/17410541.2026.2657978

Negin Akbari, Fatemeh Shaban, Jawad Malekzadeh, Ahmad Bagheri Moghaddam

{"title":"The norepinephrine dosing dilemma in septic shock: a narrative review.","authors":"Negin Akbari, Fatemeh Shaban, Jawad Malekzadeh, Ahmad Bagheri Moghaddam","doi":"10.1080/17410541.2026.2657978","DOIUrl":"10.1080/17410541.2026.2657978","url":null,"abstract":"Purpose: The Surviving Sepsis Campaign (SSC) guidelines recommend norepinephrine to achieve a mean arterial pressure (MAP) target of ≥65 mmHg. While norepinephrine counteracts decreased vascularresistance and improves tissue perfusion, high doses may induce excessivevasoconstriction, compromising perfusion and leading to organ failure. Thisreview examines whether microcirculatory resuscitation should be prioritizedover macrocirculatory MAP targets in norepinephrine therapy.Methods: A narrative review was conductedusing PubMed, Scopus, and Science Direct (2009-2025). We included clinicalstudies and reviews on adults with septic shock, focusing on norepinephrinedosing and its effects on MAP and tissue perfusion.Results: Evidence suggests that a fixed MAP target of ≥65 mmHg may not universally optimize outcomes, as tissue perfusion does not consistently correlate with MAP. Advanced monitoring of microcirculation helps correct microcirculatory stagnant hypoxia and tissue perfusion. Achieving the minimum required tissue perfusion through perfusion-guided monitoring allows physicians and nurses to determine the optimal norepinephrine dosage and ideal MAP for each patient, based on their clinical condition and medical history.Conclusion: Consequently, optimizing microcirculation using bedside monitoring technologies may replace the rigid MAP target of ≥65 mmHg. Integration of microcirculatory monitoring into clinical practice represents a paradigm shift toward personalized hemodynamic management.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"427-434"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147978317","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

B‑cell activating factor gene polymorphisms rs9514828 and rs1041569 increase preeclampsia risk. B细胞活化因子基因多态性rs9514828和rs1041569增加子痫前期风险。

Personalized medicine Pub Date : 2026-08-01 Epub Date: 2026-08-11 DOI: 10.1080/17410541.2026.2716311

Kosar Shirvani Baghbabouie, Danial Jahantigh, Forough Forghani, Mahnaz Rezaei

{"title":"B‑cell activating factor gene polymorphisms rs9514828 and rs1041569 increase preeclampsia risk.","authors":"Kosar Shirvani Baghbabouie, Danial Jahantigh, Forough Forghani, Mahnaz Rezaei","doi":"10.1080/17410541.2026.2716311","DOIUrl":"10.1080/17410541.2026.2716311","url":null,"abstract":"Aims: This study investigated the association between BAFF gene polymorphisms (rs1041569 and rs9514828) and preeclampsia (PE) susceptibility in an Iranian population, with a focus on disease severity and onset timing.Patients and methods: This case-control study included 560 pregnant women (280 with PE and 280 normotensive controls) from Zahedan, southeastern Iran. Genotyping was performed using PCR-RFLP. Associations were assessed using logistic regression to calculate odds ratios (ORs) with 95% confidence intervals (CIs).Results: For rs9514828, the CT and TT genotypes were associated with increased PE risk (OR = 1.81, p = 0.011; OR = 2.13, p = 0.002). For rs1041569, the AT and TT genotypes were also associated with increased risk (OR = 1.48, p = 0.033; OR = 1.68, p = 0.037). Haplotype analysis revealed that the C-A haplotype was protective (OR = 0.69, p = 0.003), while the T-T haplotype showed similar protection (OR = 0.69, p = 0.003). All genotype distributions were in Hardy-Weinberg equilibrium in the control group.Conclusion: BAFF polymorphisms are significantly associated with PE susceptibility in the Iranian population and may serve as potential biomarkers for PE risk assessment.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"299-308"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148709207","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

Clinical implication of transcriptional dysregulation in the SHH-GLI pathway involving the GLI1 rs61739569 (T>C) variant toward chronic obstructive pulmonary disease (COPD) in North Indians. 北印度人慢性阻塞性肺疾病（COPD）中涉及GLI1 rs61739569 （T b> C）变异的sh - gli通路转录失调的临床意义

Personalized medicine Pub Date : 2026-08-01 Epub Date: 2026-08-10 DOI: 10.1080/17410541.2026.2716310

Nidhi Mahajan, Vishal Chopra, Kranti Garg, Siddharth Sharma

{"title":"Clinical implication of transcriptional dysregulation in the SHH-GLI pathway involving the GLI1 rs61739569 (T>C) variant toward chronic obstructive pulmonary disease (COPD) in North Indians.","authors":"Nidhi Mahajan, Vishal Chopra, Kranti Garg, Siddharth Sharma","doi":"10.1080/17410541.2026.2716310","DOIUrl":"10.1080/17410541.2026.2716310","url":null,"abstract":"Background: Chronic obstructive pulmonary disease (COPD) ranks among the leading causes of morbidity and mortality globally. Genomic susceptibility factors are acknowledged as critical modulators of disease variability and progression. The Sonic Hedgehog (SHH) pathway regulates epithelial tissue healing, mucin synthesis, and airway remodeling. GLI1 polymorphic variants may influence the manifestations of COPD.Methodology: A case-control study was conducted, involving 500 patients with COPD and 500 controls from the North Indian population. We genotyped two GLI1 polymorphisms (rs61739569 (T>C) and rs2228226 (G>C). Logistic regression models were applied to examine the associations between COPD susceptibility and clinical features.Results: rs61739569 and rs2228226 show no association with an increased risk of COPD overall. Nonetheless, rs61739569 exhibited significant phenotype-specific correlations: individuals possessing the CC genotype demonstrated a markedly elevated risk of chronic cough, sputum production, and exacerbations, while displaying a diminished risk of dyspnea and activity limitation.Conclusion: Variations in GLI1 may influence the symptoms of COPD, rather than the overall likelihood of developing COPD. The rs61739569 is particularly applicable to mucus-dominant phenotypes, such as those resembling chronic bronchitis. This study suggests that GLI1 signaling exhibits context-dependent functional significance in COPD.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"309-318"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148709253","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

In silico analysis of SH3BP2 genomic alterations and expression profiles in CRC. SH3BP2基因在结直肠癌中的改变及表达谱的计算机分析。

Personalized medicine Pub Date : 2026-08-01 Epub Date: 2026-09-02 DOI: 10.1080/17410541.2026.2723766

Muralidharan Jothimani, Karthikeyan Muthusamy

{"title":"In silico analysis of SH3BP2 genomic alterations and expression profiles in CRC.","authors":"Muralidharan Jothimani, Karthikeyan Muthusamy","doi":"10.1080/17410541.2026.2723766","DOIUrl":"10.1080/17410541.2026.2723766","url":null,"abstract":"Aim: Colorectal cancer (CRC) is a widespread health issue that attains high mortality. The adaptor protein SH3BP2 amplification results in metabolic changes, oxidative stress, NK cell activity, and inflammation. The NK cells are capable of destroying tumor cells without prior activation, help prevent metastasis, and have prognostic value. Targeting SH3BP2 to regulate NK cell activity in the TME could enhance CRC-based immunotherapy.Materials and methods: The cancer hallmark tool helps in understanding SH3BP2 hallmark annotation. Utilizing the STRING tool and the KEGG pathway, protein functional enrichment and PPI networking were analyzed. TIMER 2.0 was used for immune cell infiltration correlation analysis, and UALCAN was used for CPTAC-based protein expression profiling.Results and conclusions: The GEO (GSE9348) dataset showed SH3BP2 is upregulated in CRC (log2 fold change = 1.18). GEO, TCGA, and cBioPortal revealed SH3BP2 alterations in CRC cases, potentially aiding immune evasion. Mutations in SH3BP2 influence cancer growth, suppressing tumors or promoting them by activating NF-κB and affecting immune responses through WNT/β-catenin, PI3K, MAPK, and JAK-STAT pathways. Overall, SH3BP2 plays a key role in cancer growth and immune regulation, making it a promising target for CRC therapy. Further experimental validation is needed to demonstrate its diagnostic and therapeutic potency.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"339-352"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148877013","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

microRNA-27a-3p influences hepatocellular carcinoma cell migration and invasion via the TET1/p53 pathway. microRNA-27a-3p通过TET1/p53通路影响肝癌细胞的迁移和侵袭。

Personalized medicine Pub Date : 2026-08-01 Epub Date: 2026-09-04 DOI: 10.1080/17410541.2026.2718045

Yan Di, Lei Wang, Huimin Li, Yubing Zhu

{"title":"microRNA-27a-3p influences hepatocellular carcinoma cell migration and invasion via the TET1/p53 pathway.","authors":"Yan Di, Lei Wang, Huimin Li, Yubing Zhu","doi":"10.1080/17410541.2026.2718045","DOIUrl":"10.1080/17410541.2026.2718045","url":null,"abstract":"Objective: This work aims to analyze the clinical significance of microRNA-27a-3p (miR-27a-3p) in hepatocellular carcinoma (HCC) and its impact on HCC cell behavior.Methods: RT-qPCR was performed on 57 paired HCC tumor and adjacent normal tissues to assess miR-27a-3p levels and its correlation with prognosis and clinicopathological features. HCC cells were transfected with miR-27a-3p inhibitor/mimic, si-TET1, or corresponding controls. RT-qPCR/Western blot measured miR-27a-3p, TET1, and p53 levels. CCK-8/Transwell/flow cytometry assay evaluated cell activities. Dual-luciferase reporter and RNA pull-down assays confirmed the direct interaction between miR-27a-3p and TET1. In vivo, a subcutaneous xenograft model was used to assess the effect of miR-27a-3p antagomir on tumor growth via tail vein injection.Results: miR-27a-3p was upregulated in HCC tissues, correlating with poor survival, TNM stage, tumor size, alongside vascular invasion. miR-27a-3p knockdown diminished HCC cell growth while promoting apoptosis. Mechanistically, miR-27a-3p targeted TET1. Rescue experiments reflected that TET1 inhibition partially reversed the tumor-suppressive impacts of miR-27a-3p silencing. Further, miR-27a-3p knockdown enhanced p53 levels via TET1, whereas its overexpression suppressed both TET1 and p53. In vivo, miR-27a-3p antagomir suppressed HCC xenograft tumor growth.Conclusion: Downregulation of miR-27a-3p exerts a tumor-suppressive impact in HCC by inhibiting malignant biological behaviors, potentially via the TET1/p53 axis.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"319-328"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148893273","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 cost-effective conventional endpoint PCR assay for HLA-B*13:01 genotyping to guide personalized dapsone therapy in leprosy in low-resource settings. 一种具有成本效益的传统终点PCR方法，用于HLA-B*13:01基因分型，指导低资源环境下麻风病个体化氨砜治疗。

Personalized medicine Pub Date : 2026-08-01 Epub Date: 2026-08-30 DOI: 10.1080/17410541.2026.2724106

Divya Rsjb Rana, Kishor Koju, Jivan Shakya, Sarita Manandhar, Anjana Singh, Mahesh Shah, Deanna A Hagge, Jarina Joshi

{"title":"A cost-effective conventional endpoint PCR assay for HLA-B*13:01 genotyping to guide personalized dapsone therapy in leprosy in low-resource settings.","authors":"Divya Rsjb Rana, Kishor Koju, Jivan Shakya, Sarita Manandhar, Anjana Singh, Mahesh Shah, Deanna A Hagge, Jarina Joshi","doi":"10.1080/17410541.2026.2724106","DOIUrl":"10.1080/17410541.2026.2724106","url":null,"abstract":"Background: Dapsone is a drug used to treat leprosy. Dapsone causes a highly morbid and potentially fatal severe drug hypersensitivity reaction (DHS) in 1-3% of leprosy cases. The allele HLA-B*13:01 is a known genetic risk factor for DHS. However, resource-intensive genotyping methods preclude its testing in resource-limited settings. This study aimed to develop an endpoint PCR assay to detect the presence of HLA-B*13:01.Research design and methods: DNA was extracted from blood samples of leprosy patients at Anandaban Hospital, Nepal (2022-24). A duplex endpoint PCR was optimized and validated against a previously validated commercial qPCR method and NGS (next‑generation sequencing).Results: In 113 samples, duplex PCR showed 100% (95% CI: 79.4-100%) sensitivity and 100% specificity (95% CI: 96.2-100%) compared to the validated qPCR method. The same accuracy was confirmed in 58 NGS-typed samples (concordance 98.3%, 95% CI: 90.7-99.9%). The assay reliably differentiated HLA-B*13:01 from closely related allele. Analytical sensitivity reached a lower detection limit of 100 genome equivalents (0.67 ng DNA/reaction).Conclusion: The developed duplex endpoint PCR offers a simple and affordable method for detecting HLA-B*13:01, suitable in low-resource settings. Its use may significantly reduce the risk of DHS by guiding safer drug choices prior to MDT initiation.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"329-338"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148858003","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