Personalized medicine最新文献

Bridging the United States population diversity gaps in clinical research: roadmap to precision health and reducing health disparities. 弥合美国临床研究中的人口多样性差距：精确健康路线图和减少健康差距。

Personalized medicine Pub Date : 2025-05-13 DOI: 10.1080/17410541.2025.2504329

Youssef Roman

{"title":"Bridging the United States population diversity gaps in clinical research: roadmap to precision health and reducing health disparities.","authors":"Youssef Roman","doi":"10.1080/17410541.2025.2504329","DOIUrl":"https://doi.org/10.1080/17410541.2025.2504329","url":null,"abstract":"Precision medicine promises improved health outcomes by tailoring treatments to individual genetic and environmental factors. However, achieving this potential is hindered by persistent health disparities and the underrepresentation of racially and ethnically diverse populations in clinical trials. Limited diversity in research exacerbates health inequities, reducing the generalizability of findings and widening gaps in access to effective treatments. This review outlines a multi-faceted strategy to bridge diversity gaps in clinical trials, focusing on community engagement, clinical pharmacology, and regulatory science. Key approaches include decentralized trials, targeted recruitment, advanced data modeling, and comprehensive integration of genetic and social determinants of health data. Regulatory frameworks, such as diversity action plans, play a crucial role in ensuring equitable access to precision health innovations. Increasing representation in research enhances the reliability of clinical data and fosters health equity by addressing differences in disease prevalence, treatment responses, and healthcare access. By leveraging technological advancements and inclusive research methodologies, this framework aims to transform clinical trials into a roadmap for equitable healthcare. Ensuring diverse participation in research is essential for the successful implementation of precision medicine and realizing the full potential of precision health, ultimately reducing health disparities and promoting fair access to medical advancements across all populations.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-11"},"PeriodicalIF":0.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052534","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

Precision acute medical care through "-omic" analyses: a scoping review. 通过“基因组学”分析的精准急性医疗护理：范围综述。

Personalized medicine Pub Date : 2025-05-12 DOI: 10.1080/17410541.2025.2499438

Cole Ettingoff, Megan Von Isenburg, Drew Birrenkott, Hirotaka Ata, Chris Kabrhel, Basmah Safdar, Kohei Hasegawa, Andrew Monte, Frederick Fred Korley, Cosby Gabrielle Arnold, Laura Heitsch, Matthew Strehlow, Alexander T Limkakeng

{"title":"Precision acute medical care through \"-omic\" analyses: a scoping review.","authors":"Cole Ettingoff, Megan Von Isenburg, Drew Birrenkott, Hirotaka Ata, Chris Kabrhel, Basmah Safdar, Kohei Hasegawa, Andrew Monte, Frederick Fred Korley, Cosby Gabrielle Arnold, Laura Heitsch, Matthew Strehlow, Alexander T Limkakeng","doi":"10.1080/17410541.2025.2499438","DOIUrl":"https://doi.org/10.1080/17410541.2025.2499438","url":null,"abstract":"Background: -Omics technologies - including genomics, transcriptomics, proteomics, and metabolomics - are increasingly used in acute care settings. However, the current extent of this research has not been systematically assessed.Objectives: To characterize how -omics analyses are applied to acute medical conditions and identify trends, gaps, and implementation barriers.Methods: Eligible studies included human subjects with acute conditions and used -omics biosample analyses for diagnostic, prognostic, or predictive purposes. Feedback from the SAEM Precision Emergency Medicine Consensus Conference informed the search and inclusion criteria. Studies of infectious diseases were excluded for separate analysis.Results: Of 7,531 screened articles, 421 met inclusion criteria. Most were observational cohort studies, with single nucleotide polymorphism analysis being most common. Cardiovascular and trauma-related conditions were frequently studied. Only 12.4% of studies included children, and just 7 focused exclusively on older adults. One-third were conducted outside of emergency departments. Many studies addressed diverse, uncategorized acute conditions.Conclusions: While -omics research in acute care is growing, it remains predominantly observational with limited clinical implementation. Barriers include delayed turnaround times, insufficient EHR integration, and underrepresentation of vulnerable populations. Advancing this field requires cross-disciplinary collaboration, focused research priorities, and investment in implementation studies.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144048862","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

Vancomycin individual dosing regimens via Bayesian simulation: a 5-year retrospective study on preterm and term neonates. 通过贝叶斯模拟万古霉素个体给药方案：对早产儿和足月新生儿的5年回顾性研究。

Personalized medicine Pub Date : 2025-04-30 DOI: 10.1080/17410541.2025.2499442

Lu Tan, Ailing Chao, Heng Liang, Qian Liu, Minzhen Han, Yanping Guan

{"title":"Vancomycin individual dosing regimens via Bayesian simulation: a 5-year retrospective study on preterm and term neonates.","authors":"Lu Tan, Ailing Chao, Heng Liang, Qian Liu, Minzhen Han, Yanping Guan","doi":"10.1080/17410541.2025.2499442","DOIUrl":"https://doi.org/10.1080/17410541.2025.2499442","url":null,"abstract":"Aim: Vancomycin dosing in neonates is challenging due to developmental pharmacokinetic variability. The study was to characterize vancomycin pharmacokinetics in a large cohort of preterm and term neonates and develop individualized dosing regimens.Materials & methods: A 5-year retrospective study of a cohort of 255 neonates was included.Results: An allometric one-compartment model with first-order elimination best described the vancomycin concentrations. The population pharmacokinetic estimates (between subject variability) of clearance (CL) and volume of distribution (V) were 2.58 L·h-1·70 kg-1 (9.00 %) and 52.09 L·70 kg-1 (29.00%), respectively. CL and V were significantly influenced by body weight and postmenstrual age. Vancomycin CL reached 50% of adult values at 43.6 weeks PMA (a sigmoid Emax model). Renal maturation, estimated by creatinine production rate, was a significant covariate. Bayesian-guided individualized dosage regimens were developed and evaluated.Conclusions: Vancomycin overdosage should be avoided in very young premature babies (PMA = 25 weeks). Optimization of efficacy while minimizing toxicity of vancomycin in preterm and term neonates is needed, especially guided by personalized body weight, postmenstrual age, and renal function.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064873","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

Global harmonization in advanced therapeutics: balancing innovation, safety, and access. 先进疗法的全球协调：平衡创新、安全性和可及性。

Personalized medicine Pub Date : 2025-04-25 DOI: 10.1080/17410541.2025.2494980

Ankit Dahiya, Kartikey Singh, Anunav Ashish, Nipun, Aayush Bhadyaria, Shubham Thakur, Manish Kumar, Ghanshyam Das Gupta, Balak Das Kurmi, Ravi Raj Pal

{"title":"Global harmonization in advanced therapeutics: balancing innovation, safety, and access.","authors":"Ankit Dahiya, Kartikey Singh, Anunav Ashish, Nipun, Aayush Bhadyaria, Shubham Thakur, Manish Kumar, Ghanshyam Das Gupta, Balak Das Kurmi, Ravi Raj Pal","doi":"10.1080/17410541.2025.2494980","DOIUrl":"https://doi.org/10.1080/17410541.2025.2494980","url":null,"abstract":"Introduction: Advanced Therapy Medicinal Products (ATMPs), which include gene therapies, somatic cell therapies, and tissue-engineered products, are a new paradigm for treating previously intractable diseases. Their regenerative and personalized approach makes them, unlike conventional treatments, require changing regulatory systems to adjust to their intricacies.Areas covered: This review gives a comprehensive critique of international regulatory programs that include the FDA's RMAT designation, EMA's PRIME program, and Japan's Sakigake program intended to bring ATMPs to patients faster while ensuring patient safety. It also considers innovation-led strategies like adaptive licensing, rolling reviews, and real-world evidence (RWE) led decision-making for pre-market authorization and post-market monitoring. In addition, it discusses problems like regulatory divergence, intricate manufacturing standards, price constraints, and the transformative role of digital technologies such as artificial intelligence and blockchain in traceability and regulatory compliance. Patient-centric models and early access schemes are also extensively debated as part and parcel of the future of regulatory science.Expert opinion/commentary: To achieve the maximum potential of ATMPs across the world, regulatory systems need to be harmonized and responsive, involving real-time data analysis, flexible approval processes, and improved stakeholder cooperation. New technologies, coupled with more patient engagement and global convergence efforts, are crucial for providing equal access to effective and safe advanced therapies.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-11"},"PeriodicalIF":0.0,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144060041","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

Genomics and the early diagnosis of lung cancer. 基因组学和肺癌的早期诊断。

Personalized medicine Pub Date : 2025-04-21 DOI: 10.1080/17410541.2025.2494982

Francesco Pepe, Tancredi Didier Bazan Russo, Valerio Gristina, Andrea Gottardo, Giulia Busuito, Giuliana Iannì, Gianluca Russo, Claudia Scimone, Lucia Palumbo, Lorena Incorvaia, Giuseppe Badalamenti, Antonio Galvano, Viviana Bazan, Antonio Russo, Giancarlo Troncone, Umberto Malapelle

{"title":"Genomics and the early diagnosis of lung cancer.","authors":"Francesco Pepe, Tancredi Didier Bazan Russo, Valerio Gristina, Andrea Gottardo, Giulia Busuito, Giuliana Iannì, Gianluca Russo, Claudia Scimone, Lucia Palumbo, Lorena Incorvaia, Giuseppe Badalamenti, Antonio Galvano, Viviana Bazan, Antonio Russo, Giancarlo Troncone, Umberto Malapelle","doi":"10.1080/17410541.2025.2494982","DOIUrl":"https://doi.org/10.1080/17410541.2025.2494982","url":null,"abstract":"Lung cancer (LC) remains the leading cause of cancer-related mortality worldwide, with most cases diagnosed at advanced stages, resulting in poor survival rates. Early detection significantly improves outcomes, yet current screening methods, such as low-dose computed tomography (LDCT), are limited by high false-positive rates, radiation exposure, and restricted eligibility criteria. This review highlights the transformative potential of genomic and molecular technologies in advancing the early detection of LC. Key innovations include liquid biopsy tools, such as circulating tumor DNA (ctDNA) and cell-free DNA (cfDNA) analysis, which offer minimally invasive approaches to detect tumor-specific genetic and epigenetic alterations. Emerging biomarkers, including methylation signatures, cfDNA fragmentomics, and multi-omics profiles, demonstrate improved sensitivity and specificity in identifying early-stage tumors. Advanced platforms like next-generation sequencing (NGS) and machine-learning algorithms further enhance diagnostic accuracy. Integrated approaches that combine genomic data with LDCT imaging and artificial intelligence (AI) show promise in addressing current limitations by improving risk stratification and nodule characterization. The review also explores multi-cancer early detection assays and precision diagnostic strategies tailored for diverse at-risk populations. By leveraging these advancements, clinicians can achieve earlier diagnoses, reduce unnecessary procedures, and ultimately decrease LC mortality.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144002264","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

Artificial intelligence: its potential in personalized public health strategies and genetic data analysis: a narrative review. 人工智能：其在个性化公共卫生战略和基因数据分析方面的潜力：叙述性回顾。

Personalized medicine Pub Date : 2025-04-21 DOI: 10.1080/17410541.2025.2494501

Gülcan Demir, Zeynep Yegin

{"title":"Artificial intelligence: its potential in personalized public health strategies and genetic data analysis: a narrative review.","authors":"Gülcan Demir, Zeynep Yegin","doi":"10.1080/17410541.2025.2494501","DOIUrl":"https://doi.org/10.1080/17410541.2025.2494501","url":null,"abstract":"This review comprehensively evaluates personalized public health strategies using artificial intelligence (AI) in disease prediction/management and genetic data analysis. In the field of healthcare, AI has achieved significant advancements in the analysis of public health and genetic data. Its applications in public health include predicting the spread of infectious diseases, evaluating individual risk factors, and optimizing resource management. In the realm of genetic data, AI offers groundbreaking contributions such as identifying disease risk factors, analyzing genetic mutations, and developing personalized treatment plans. In this review, we evaluated the importance of AI in preventive medicine in a structured way and by including concrete application examples. Ethical and legal responsibilities must be considered due to the significant implications of AI-generated decisions. By integrating AI into public health and genetics, we are poised to unlock unprecedented opportunities for advancing human health. This approach not only enhances our ability to understand and address complex health challenges but also paves the way for equitable, effective, and individualized care solutions on a global scale. In this review, we addressed to the interactions between particular subdomains of personalized public health strategies and AI with most recent literature and legal/ethical perspective.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064651","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

Pharmacogenomic analysis and clinical annotation of 635 patients. 635例患者的药物基因组学分析及临床注释。

Personalized medicine Pub Date : 2025-04-17 DOI: 10.1080/17410541.2025.2493606

Özkan Bağcı, Batuhan Şanlıtürk, Ebru Marzioğlu Özdemir, Nadir Koçak, Tülin Cora

{"title":"Pharmacogenomic analysis and clinical annotation of 635 patients.","authors":"Özkan Bağcı, Batuhan Şanlıtürk, Ebru Marzioğlu Özdemir, Nadir Koçak, Tülin Cora","doi":"10.1080/17410541.2025.2493606","DOIUrl":"https://doi.org/10.1080/17410541.2025.2493606","url":null,"abstract":"Aim: In this study, we aimed to reveal the sequence analysis of 69 pharmacogenes in 635 patients and the clinical explanation of variants.Materials and methods: Genomic DNA was isolated from peripheral blood of patients. Next-Generation Sequence analysis and bioinformatic analysis were performed to identify 69 pharmacogene variants. Variants with clinical annotation were identified.Results: Analysis of 69 pharmacogenes in a total of 635 patients identified 9485 variants. The number of distinct variants identified in each gene was 1409. Of these 1409 variants, the number of variants registered in PharmGKB was 126. Among the 126 variants registered in PharmGKB, 26 variants were identified that had a direct association with clinical annotation and drug efficacy or toxicity. The most common variant genes were DPYD, CYP2C19, VKORC1,UGT1A1, RYR1 and MTHFR. These 26 variants with clinical annotation were identified in 327 (51%) different individuals.Conclusions: Such a high frequency of critical variants (51%) points to the need for pharmacogenetic studies. The results are extremely important in terms of determining the drug dose according to the genomic status of individuals receiving drug therapy and preventing unnecessary health expenditures.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144061486","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

Developing the Workplace Learning Social System: considerations for genomics implementation and workforce preparedness. 开发工作场所学习社会系统：基因组学实施和劳动力准备的考虑因素。

Personalized medicine Pub Date : 2025-04-01 Epub Date: 2025-03-12 DOI: 10.1080/17410541.2025.2475731

Alice Kim, Amy Nisselle, Louise Keogh, Jennifer Weller-Newton

{"title":"Developing the Workplace Learning Social System: considerations for genomics implementation and workforce preparedness.","authors":"Alice Kim, Amy Nisselle, Louise Keogh, Jennifer Weller-Newton","doi":"10.1080/17410541.2025.2475731","DOIUrl":"10.1080/17410541.2025.2475731","url":null,"abstract":"Innovations, such as genomics, are expected to transform the practice of the healthcare workforce. Workplace learning is an established and fundamental component of healthcare workforce training. We propose that it can be leveraged to facilitate workforce preparedness to adopt innovations relevant to practice. To explore this, this study aimed to develop a workplace learning framework premised on primary literature. Four databases were systematically searched to identify and synthesize contemporary research articles investigating doctors' workplace learning, with an additional focus on genetics/genomics. From the articles included, factors influencing workplace learning were extracted. Informed by structuration and workplace learning theories, thematic analysis was conducted on these factors to generate the framework. Despite the lack of articles on doctors' genetics/genomics workplace learning, 50 articles on doctors' workplace learning were included. Extracted influencing factors were synthesized into five major domains, across three social system levels and the agentic learner, to generate the Workplace Learning Social System framework. Innovations in healthcare require its workforce to change work practices. The Workplace Learning Social System framework holistically conceptualizes workplace learning based on contemporary literature. It provides pragmatic insights to inform workforce development when implementing innovations as part of system-wide change.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"129-139"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607574","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

Association of miR-21 gene polymorphisms with cognitive function in patients with systemic lupus erythematosus. 系统性红斑狼疮患者miR-21基因多态性与认知功能的关联

Personalized medicine Pub Date : 2025-04-01 Epub Date: 2025-03-14 DOI: 10.1080/17410541.2025.2478809

Tiantian Wei, Jing Shen, Lijun He, Wei Zhou, Hui Zhang

{"title":"Association of miR-21 gene polymorphisms with cognitive function in patients with systemic lupus erythematosus.","authors":"Tiantian Wei, Jing Shen, Lijun He, Wei Zhou, Hui Zhang","doi":"10.1080/17410541.2025.2478809","DOIUrl":"10.1080/17410541.2025.2478809","url":null,"abstract":"Objectives: The genetic variant rs13137 of miR-21 is associated with susceptibility in many diseases. However, the association with cognitive dysfunction (CD) in Chinese patients with systemic lupus erythematosus (SLE) remains unclear.Materials and methods: Two hundred and thirty SLE patients (Non-CD) and 230 SLE-related CD patients (CD) were recruited. MiR-21 level was calculated by qRT-PCR. The ROC curve was established to evaluate the diagnosibility. The independent risk factors were identified by multivariate logistic regression analysis.Results: The miR-21 in CD group was obviously increased. Compared to AA carriers, the miR-21 level in carriers of rs13137 AT/TT in CD group were significantly lower than those in Non-CD group. The AUC was 0.9023 with sensitivity of 78.70% and specificity of 90.87%. Comparison of genotype and allele frequencies indicated that SLE patients carrying rs13137 AT/TT genotype had low risk of CD. Multivariate logistic regression analysis showed that the rs13137 polymorphism, education years, and MoCA score were correlated with CD risk.Conclusion: The miR-21 rs13137 polymorphism was correlated with CD risk in the Chinese population. MiR-21 in rs13137 AT/TT carriers was significantly lower than that of AA genotype and the AT/TT genotype was correlated with low CD risk in SLE patients.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"121-127"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627340","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

Association of XRCC gene family and CDH1 gene polymorphisms with gastric cancer risk in a Chinese population. XRCC基因家族和CDH1基因多态性与中国人群胃癌风险的关系

Personalized medicine Pub Date : 2025-04-01 Epub Date: 2025-03-09 DOI: 10.1080/17410541.2025.2473306

Yalan Sun, Ying Wang, Mengqiu Xiong, Ping Tai, Lubanga Nasifu, William Chi Shing Cho, Chengbin Zhu, Panfei Hou, Bangshun He

{"title":"Association of XRCC gene family and CDH1 gene polymorphisms with gastric cancer risk in a Chinese population.","authors":"Yalan Sun, Ying Wang, Mengqiu Xiong, Ping Tai, Lubanga Nasifu, William Chi Shing Cho, Chengbin Zhu, Panfei Hou, Bangshun He","doi":"10.1080/17410541.2025.2473306","DOIUrl":"10.1080/17410541.2025.2473306","url":null,"abstract":"Background: Gastric carcinogenesis is associated with defects in DNA damage repair pathways, in which the XRCC gene family (XRCC1, XRCC5, and XRCC6) play an important role in DNA repair. It is also well known that the CDH1 gene, as a tumor suppressor, influences the development of gastric cancer.Methods: We recruited 484 gastric cancer patients and 471 controls. DNA genotyping and Helicobacter pylori infection were determined by commercial kits. Association between polymorphisms and gastric cancer risk and survival was evaluated through SPSS 26.0.Results: Stratified analysis revealed that XRCC1 rs25487 TC/TT was associated with increased gastric cancer risk in the following four subgroups of males (adjusted OR = 1.40, 95% CI: 1.03-1.90, p = 0.031), positive Helicobacter pylori (adjusted OR = 1.58, 95% CI: 1.09-2.28, p = 0.015), tumor stage III-IV (adjusted OR = 1.42, 95% CI: 1.06-1.89, p = 0.017), and non-gastric cardiac adenocarcinoma (adjusted OR = 1.36, 95% CI: 1.02-1.82, p = 0.034). Additionally, survival analysis indicated that XRCC1 rs25487 TC/TT genotype (HR = 1.35, 95% CI: 1.08-1.69, p = 0.010) was associated with unfavorable survival in gastric cancer patients.Conclusion: XRCC1 rs25487 CC genotype decreased the risk of gastric cancer, and predicted a favorable survival prognosis.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"103-111"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143589024","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