Personalized medicine最新文献

Association of miR-21 gene polymorphisms with cognitive function in patients with systemic lupus erythematosus.

Personalized medicine Pub 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":"https://doi.org/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":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2025-03-14","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

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 : 2025-03-12 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":"https://doi.org/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":"1-11"},"PeriodicalIF":0.0,"publicationDate":"2025-03-12","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 XRCC gene family and CDH1 gene polymorphisms with gastric cancer risk in a Chinese population.

Personalized medicine Pub 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":"https://doi.org/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":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2025-03-09","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

The correlation between the polymorphism of lysolecithin acyltransferase (MBOAT7) rs641738 and liver fibrosis.

Personalized medicine Pub Date : 2025-03-07 DOI: 10.1080/17410541.2025.2476379

Yuxia Yang, Xiang Chen, Huiqin Zhang, Gang Yang, Xiaoyun Zhu, Xiujing Si, Feilong Chen, Yan Zhao, Feng Jin, Juanjuan Lu

{"title":"The correlation between the polymorphism of lysolecithin acyltransferase (MBOAT7) rs641738 and liver fibrosis.","authors":"Yuxia Yang, Xiang Chen, Huiqin Zhang, Gang Yang, Xiaoyun Zhu, Xiujing Si, Feilong Chen, Yan Zhao, Feng Jin, Juanjuan Lu","doi":"10.1080/17410541.2025.2476379","DOIUrl":"https://doi.org/10.1080/17410541.2025.2476379","url":null,"abstract":"Objective: We aimed to explore the relationship between the MBOAT7 rs641738 gene polymorphism and liver fibrosis and inflammation.Methods: A total of 214 patients with metabolic dysfunction-associated steatotic liver disease (MASLD) were allocated into the mild-to-moderate and severe liver fibrosis groups based on liver fibrosis degree. The genotypes at the MBOAT7 rs641738 locus were evaluated. Differences in clinical and biochemical indicators, as well as the genotype and allele frequency distributions of the MBOAT7 rs641738 polymorphism, were analyzed across groups with varying degrees of liver fibrosis. Additionally, the clinical and biochemical differences among patients with different genotypes were examined.Results: Significant differences were observed in the distribution of CC, CT, and TT genotypes, as well as C and T allele frequencies at the MBOAT7 rs641738 locus, between patients with mild-to-moderate and severe fibrosis. Carriers of the CT + TT genotype had a higher risk of developing severe liver fibrosis compared to those with the CC genotype (OR > 1). Furthermore, CT + TT carriers had higher levels of inflammatory cytokines and more severe fibrosis than CC genotype carriers (all p < 0.05).Conclusion: The MBOAT7 rs641738 gene polymorphism is associated with the severity of liver fibrosis and inflammation.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143589026","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

Head-to-head comparison of tyrosine kinase inhibitors in renal cell carcinoma using patient-derived cell culture.

Personalized medicine Pub Date : 2025-03-03 DOI: 10.1080/17410541.2025.2473303

Aaron J Urquhart, Christian H Glass, Tyrone L R Humphries, Andrew J Kassianos, David A Vesey, Simon T Wood, Glenda C Gobe, Robert J Ellis

{"title":"Head-to-head comparison of tyrosine kinase inhibitors in renal cell carcinoma using patient-derived cell culture.","authors":"Aaron J Urquhart, Christian H Glass, Tyrone L R Humphries, Andrew J Kassianos, David A Vesey, Simon T Wood, Glenda C Gobe, Robert J Ellis","doi":"10.1080/17410541.2025.2473303","DOIUrl":"https://doi.org/10.1080/17410541.2025.2473303","url":null,"abstract":"Background: Metastatic renal cell carcinoma (RCC) is often treated with a combination of immunotherapy and tyrosine kinase inhibitors (TKIs). Patient-derived RCC cells were cultured and inter-individual differences to treatment with a panel of TKIs were evaluated.Methods: Tumor tissue was collected during nephrectomy. Cells were cultured and treated with a panel of clinically relevant TKIs (sunitinib, cabozantinib, pazopanib, axitinib) at concentrations of 5 µM for 48-72 hours. Cell viability was evaluated using MTT assays. One-sided T-tests were used to evaluate results.Results: Patient-derived cancer cells were able to be grown beyond 10 passages from 12/38 samples collected (27%). Four patient-derived samples were tested against the TKI panel. No substantial difference between drugs was seen for two samples. In one sample, there was a clear superior response to sunitinib (48% mean viability, vs >75% for the other drugs). For the final sample, sunitinib, cabozantinib, and axitinib demonstrated a superior response compared with pazopanib (71%, 77%, 70%, and 85% mean viability, respectively).Conclusions: Inter-individual variability in the responses of patient-derived RCC cultures to TKIs was seen, which may have biological and clinical significance. Future directions could build on this work to develop personalized cancer susceptibility profiles, with potential for translation into a clinical trial.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143545522","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

Individualized psychiatric care: integration of therapeutic drug monitoring, pharmacogenomics, and biomarkers. 精神科个体化护理：治疗药物监测、药物基因组学和生物标志物的整合。

Personalized medicine Pub Date : 2025-02-01 Epub Date: 2024-12-20 DOI: 10.1080/17410541.2024.2442897

Sara Salatin, Ali Reza Shafiee-Kandjani, Samin Hamidi, Akbar Amirfiroozi, Parinaz Kalejahi

引用次数: 0

Genetic and non-genetic factors influencing the therapeutic response of valproic acid in pediatric epileptic patients. 影响小儿癫痫患者丙戊酸治疗反应的遗传和非遗传因素。

Personalized medicine Pub Date : 2025-02-01 Epub Date: 2024-12-22 DOI: 10.1080/17410541.2024.2441655

Changsong Wu, Jianghuan Zheng, Yanling Pan, Ruyu Tao, Zhijun Zhong, Chaozhi Qian, Heng Liang, Haijun Wu

{"title":"Genetic and non-genetic factors influencing the therapeutic response of valproic acid in pediatric epileptic patients.","authors":"Changsong Wu, Jianghuan Zheng, Yanling Pan, Ruyu Tao, Zhijun Zhong, Chaozhi Qian, Heng Liang, Haijun Wu","doi":"10.1080/17410541.2024.2441655","DOIUrl":"10.1080/17410541.2024.2441655","url":null,"abstract":"Aims: Considerable inter-individual variability in the efficacy of valproic acid (VPA) has been reported, with approximately 20-45% of patients failing to achieve satisfactory seizure control after VPA monotherapy. The aim of this study was to investigate the influence of non-genetic and genetic factors on 12-month VPA-response in a cohort of 194 pediatric patients.Materials & methods: Trough concentrations were determined, and a panel of 48 variants located in pharmacokinetic and pharmacodynamic gene were genotyped.Results: Aetiology was highlighted as a significant factor for the response to VPA. Specifically, patients with idiopathic epilepsy demonstrated poorer 12-month outcomes (p < 0.001). Trough VPA concentrations did not significantly affect outcomes. Marginal association was found between VPA efficacy and the following genetic variants: GABRA1 rs10068980 (p = 0.02), SLC16A1 rs7169 (p = 0.02), ABCC2 rs1885301 (p = 0.092), ACADM rs1251079 (p = 0.061) and GABRA1 rs6883877 (p = 0.085), as indicated by Fisher's exact test. A significant cumulative effect of two genetic factors (GABRA1 rs10068980 and SLC16A1 rs7169) was observed after a multiple logistic analysis, with ORs of 2.828 (1.213, 6.594) and 4.066 (1.148,14.398), respectively.Conclusion: Our study indicated that GABRA1 rs10068980 and SLC16A1 rs7169 might serve as potential biomarkers for predicting the 12-month VPA treatment outcomes in pediatric patients with epilepsy.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"11-19"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142879447","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 effect of genetic polymorphisms of AKT1 on PE susceptibility: a case-control study and insilico analysis.

Personalized medicine Pub Date : 2025-02-01 Epub Date: 2024-12-31 DOI: 10.1080/17410541.2024.2446006

Mahnaz Rezaei, Marzieh Ghasemi, Mohsen Saravani, Hossein Shahraki-Ghadimi, Rahele Ghasemian Moghadam, Saeedeh Salimi

{"title":"The effect of genetic polymorphisms of AKT1 on PE susceptibility: a case-control study and insilico analysis.","authors":"Mahnaz Rezaei, Marzieh Ghasemi, Mohsen Saravani, Hossein Shahraki-Ghadimi, Rahele Ghasemian Moghadam, Saeedeh Salimi","doi":"10.1080/17410541.2024.2446006","DOIUrl":"https://doi.org/10.1080/17410541.2024.2446006","url":null,"abstract":"Background: Preeclampsia (PE) is a gestational disease associated with developing hypertension and proteinuria.Aim: This study investigated the effects of AKT1 polymorphisms, a key enzyme in cellular signal transmission that regulates various cellular processes associated with PE.Methods: The PCR-RFLP method was employed to genotype AKT1 rs2494732, rs1130233, and rs1130214 polymorphisms. In silico analysis was conducted using SpliceAid2, RNAsnp, and STRING tools.Results: The AKT1 rs1130233 variant was associated with an increased risk of PE in log-additive and allelic models. A significant relationship was also observed between the rs1130214 variant and PE risk in several genetic models. Results from the SpliceAid2 server indicated that the rs2494732 A to G substitution creates a new binding site for the SRP-40 protein. Several key protein binding sites were lost for rs1130214 (C-to-A) and rs1130233 (C-to-T) mutations. However, RNAsnp analysis did not show significant changes in secondary structure.Conclusion: In conclusion, the AKT1 rs1130233 and rs1130214 polymorphisms were found to be associated with an increased risk of PE.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":"22 1","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143443138","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

Personalized medicine in colorectal cancer: a comprehensive study of precision diagnosis and treatment.

Personalized medicine Pub Date : 2025-02-01 Epub Date: 2025-02-09 DOI: 10.1080/17410541.2025.2459050

Fatemeh Gila, Somayeh Khoddam, Zahra Jamali, Mohmmad Ghasemian, Shayan Shakeri, Zeinab Dehghan, Jafar Fallahi

{"title":"Personalized medicine in colorectal cancer: a comprehensive study of precision diagnosis and treatment.","authors":"Fatemeh Gila, Somayeh Khoddam, Zahra Jamali, Mohmmad Ghasemian, Shayan Shakeri, Zeinab Dehghan, Jafar Fallahi","doi":"10.1080/17410541.2025.2459050","DOIUrl":"10.1080/17410541.2025.2459050","url":null,"abstract":"Colorectal cancer is a common and fatal disease that affects many people globally. CRC is classified as the third most prevalent cancer among males and the second most frequent cancer among females worldwide. The purpose of this article is to examine how personalized medicine might be used to treat colorectal cancer. The classification of colorectal cancer based on molecular profiling, including the detection of significant gene mutations, genomic instability, and gene dysregulation, is the main topic of this discussion. Advanced technologies and biomarkers are among the detection methods that are explored, demonstrating their potential for early diagnosis and precise prognosis. In addition, the essay explores the world of treatment possibilities by providing light on FDA-approved personalized medicine solutions that provide individualized and precise interventions based on patient characteristics. This article assesses targeted treatments like cetuximab and nivolumab, looks at the therapeutic usefulness of biomarkers like microsatellite instability (MSI) and circulating tumor DNA (ctDNA), and investigates new approaches to combat resistance. Through this, our review provides a thorough overview of personalized medicine in the context of colorectal cancer, ultimately highlighting its potential to revolutionize the field and improve patient care.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"59-81"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143384585","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

Pharmacogenomics education in China and the United States: advancing personalized medicine. 中国和美国的药物基因组学教育：推进个性化医疗。

Personalized medicine Pub Date : 2025-02-01 Epub Date: 2024-12-14 DOI: 10.1080/17410541.2024.2441651

Quanlin Wang, Shusen Sun, Wei Zhang, Dan Cao, Yisu Jin

引用次数: 0