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Five genes identified as prognostic markers for colorectal cancer through the integration of genome-wide association study and expression quantitative trait loci data. 通过整合全基因组关联研究和表达定量性状位点数据，确定五个基因为结直肠癌的预后标记物。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-02-21 DOI: 10.2217/pme-2023-0103
Cuizhen Zhang, Wenjie Huang, Wanjie Niu, Huiying Yang, Yingyi Zheng, Xuan Gao, Xiaoyan Qiu
{"title":"Five genes identified as prognostic markers for colorectal cancer through the integration of genome-wide association study and expression quantitative trait loci data.","authors":"Cuizhen Zhang, Wenjie Huang, Wanjie Niu, Huiying Yang, Yingyi Zheng, Xuan Gao, Xiaoyan Qiu","doi":"10.2217/pme-2023-0103","DOIUrl":"10.2217/pme-2023-0103","url":null,"abstract":"<p><p><b>Background:</b> Colorectal cancer (CRC) is a prominent form of cancer globally, ranking second in terms of prevalence and serving as a leading cause of cancer-related deaths, but the underlying biological interpretation remains largely unknown. <b>Methods:</b> We used the summary data-based Mendelian randomization method to integrate CRC genome-wide association studies (n<sub>case</sub> = 7062; n<sub>control</sub> = 195,745) and expression quantitative trait <i>loci</i> summary data in peripheral whole blood (Consortium for Architecture of Gene Expression: n = 2765; Genotype-Tissue Expression [v8]: n = 755) and colon tissue (colon-transverse: n = 406; colon-sigmoid: n = 373) and identified related genes. <b>Results:</b> Genes <i>ABTB1</i>, <i>CYP21A2</i>, <i>NLRP1</i>, <i>PHKG1</i> and <i>PIP5K1C</i> have emerged as significant prognostic markers for CRC patient survival. Functional analysis revealed their involvement in cancer cell migration and invasion mechanisms, providing valuable insights for the development of future anti-CRC drugs. <b>Conclusion:</b> We successfully identified five CRC risk genes, providing new insights and research directions for the effective mechanisms of CRC.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"103-116"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139914372","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
Helping patients understand multi-cancer early detection tests: a scoping review. 帮助患者了解多种癌症早期检测试验：范围界定综述。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-01-25 DOI: 10.2217/pme-2023-0090
Martha Paige Greene, Jason L Vassy
{"title":"Helping patients understand multi-cancer early detection tests: a scoping review.","authors":"Martha Paige Greene, Jason L Vassy","doi":"10.2217/pme-2023-0090","DOIUrl":"10.2217/pme-2023-0090","url":null,"abstract":"<p><p>Multi-cancer early detection tests are emerging as a revolutionary technology for the early detection of dozens of cancers from a single blood sample, including cancers without proven screening methods. However, they also come with challenges, including false-positive and false-negative results. To help patients make informed decisions, patient education materials are crucial. A review of available materials reveals that, while some materials provide understandable and actionable information, most lack a balanced presentation of the current benefits and risks of multi-cancer early detection testing. The dynamic nature of this field necessitates continuous updates to educational materials, incorporating current evidence and uncertainties.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"131-137"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139547891","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
Looking back over 2023 and welcome to the 21st issue of Personalized Medicine. 回顾 2023 年，欢迎阅读第 21 期《个性化医学》。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2023-12-20 DOI: 10.2217/pme-2023-0147
Sarah Jones
{"title":"Looking back over 2023 and welcome to the 21<sup>st</sup> issue of <i>Personalized Medicine</i>.","authors":"Sarah Jones","doi":"10.2217/pme-2023-0147","DOIUrl":"10.2217/pme-2023-0147","url":null,"abstract":"","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138816079","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
Gene detection of VDR BsmI locus and its approteins, genes and growthplication in rational drug use in patients with osteoporosis. VDR BsmI 位点的基因检测及其在骨质疏松症患者合理用药中的作用。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-06-21 DOI: 10.1080/17410541.2024.2366152
Yu Huang, Nan Qiu, Yunna Wang, Wanjun Ouyang, Miao Liang
{"title":"Gene detection of VDR BsmI locus and its approteins, genes and growthplication in rational drug use in patients with osteoporosis.","authors":"Yu Huang, Nan Qiu, Yunna Wang, Wanjun Ouyang, Miao Liang","doi":"10.1080/17410541.2024.2366152","DOIUrl":"10.1080/17410541.2024.2366152","url":null,"abstract":"<p><p><b>Aim:</b> This paper determines the polymorphism distribution of the <i>VDR BsmI</i> gene in 350 patients and provides medication recommendations for osteoporosis based on detection results. <b>Materials & methods:</b> Chi-square tests compared genotype and allele frequencies with other populations. <b>Results:</b> Genotype frequencies were 91.66 bb, 8.72 Bb and 0.21% BB, with allelic frequencies of 95.43 b and 4.57% B, adhering to Hardy-Weinberg equilibrium. These findings suggest that <i>VDR</i> gene polymorphisms, particularly at the BsmIlocus, play an essential role in bone health and osteoporosis treatment. Genotype-based drug selection reduced adverse reactions from 14 to two cases. <b>Conclusion:</b> These findings improve clinical treatment efficacy and guide rational drug use for osteoporosis patients.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"219-225"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141433679","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
Classification and immunotherapy assessment of lung adenocarcinoma based on coagulation-related genes. 基于凝血相关基因的肺腺癌分类及免疫治疗评估。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2023-12-01 DOI: 10.2217/pme-2023-0094
Yi Zhou, Wangju Fan, Jian Zhou, Shengjie Zhong, Jun Yang, Yanxia Zhong, Guoxiong Huang
{"title":"Classification and immunotherapy assessment of lung adenocarcinoma based on coagulation-related genes.","authors":"Yi Zhou, Wangju Fan, Jian Zhou, Shengjie Zhong, Jun Yang, Yanxia Zhong, Guoxiong Huang","doi":"10.2217/pme-2023-0094","DOIUrl":"10.2217/pme-2023-0094","url":null,"abstract":"<p><p><b>Introduction:</b> This study on lung adenocarcinoma (LUAD), a common lung cancer subtype with high mortality. <b>Aims:</b> This study focuses on how tumor cell interactions affect immunotherapy responsiveness. <b>Methods:</b> Using public databases, we used non-negative matrix factorization clustering method, ssGSEA, CIBERSORT algorithm, immunophenotype score, survival analysis, protein-protein interaction network method to analyze gene expression data and coagulation-related genes. <b>Results:</b> We divided LUAD patients into three coagulation-related subgroups with varying immune characteristics and survival rates. A cluster of three patients, having the highest immune infiltration and survival rate, also showed the most potential for immunotherapy. We identified five key genes influencing patient survival using a protein-protein interaction network. <b>Conclusion:</b> This research offers valuable insights for forecasting prognosis and immunotherapy responsiveness in LUAD patients, helping to inform clinical treatment strategies.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"29-44"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138465252","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 roots of (in)equity in precision medicine: gaps in the discourse. 精准医疗（不）公平的根源：话语中的差距。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2023-12-13 DOI: 10.2217/pme-2023-0097
Sara Green, Barbara Prainsack, Maya Sabatello
{"title":"The roots of (in)equity in precision medicine: gaps in the discourse.","authors":"Sara Green, Barbara Prainsack, Maya Sabatello","doi":"10.2217/pme-2023-0097","DOIUrl":"10.2217/pme-2023-0097","url":null,"abstract":"","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"5-9"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10784620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138816096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Recent advances in personalized cancer immunotherapy with immune checkpoint inhibitors, T cells and vaccines. 利用免疫检查点抑制剂、T 细胞和疫苗进行个性化癌症免疫疗法的最新进展。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2023-12-13 DOI: 10.2217/pme-2023-0054
Elnaz Faghfuri
{"title":"Recent advances in personalized cancer immunotherapy with immune checkpoint inhibitors, T cells and vaccines.","authors":"Elnaz Faghfuri","doi":"10.2217/pme-2023-0054","DOIUrl":"10.2217/pme-2023-0054","url":null,"abstract":"<p><p>The results of genomic and molecular profiling of cancer patients can be effectively applied to immunotherapy agents, including immune checkpoint inhibitors, to select the most appropriate treatment. In addition, accurate prediction of neoantigens facilitates the development of individualized cancer vaccines and T-cell therapy. This review summarizes the biomarker(s) predicting responses to immune checkpoint inhibitors and focuses on current strategies to identify and isolate neoantigen-reactive T cells as well as the clinical development of neoantigen-based therapeutics. The results suggest that maximal T-cell stimulation and expansion can be achieved with combination therapies that enhance antigen-presenting cells' function and optimal T-cell priming in lymph nodes.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"45-57"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138816094","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
Lung cancer, platinum analog-based frontline treatment and pharmacogenetic limitations. 肺癌、以铂类药物为基础的一线治疗和药物遗传学限制。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-11-19 DOI: 10.1080/17410541.2024.2391269
Maryam Saqib, Zari Salahud Din, Sehrish Zafar, Nayla Munawar, Rukhsana Nawaz, Sagheer Ahmed, Mohammad Hamid Hamdard
{"title":"Lung cancer, platinum analog-based frontline treatment and pharmacogenetic limitations.","authors":"Maryam Saqib, Zari Salahud Din, Sehrish Zafar, Nayla Munawar, Rukhsana Nawaz, Sagheer Ahmed, Mohammad Hamid Hamdard","doi":"10.1080/17410541.2024.2391269","DOIUrl":"10.1080/17410541.2024.2391269","url":null,"abstract":"<p><p>Lung cancer has the highest mortality rate among all the highly prevalent neoplasia globally. The major concern with its frontline treatment-cisplatin, is the rapid progression of chemoresistance and multi-organ-based toxicities including hearing loss and tinnitus, nephrotoxicity, hepatotoxicity and myelosuppression including anemia and neutropenia. In this review, studies concluding the association of single nucleotide polymorphisms (SNP) in disparate genes with aforementioned toxicity points are summarized to observe the pharmacogenomic pattern. Especially, <i>SNPs</i> in <i>ATP7B</i>, <i>ERCC-1</i>, <i>ERCC-2</i>, <i>MATE-1</i>, <i>OCT-2</i>, <i>ABCB-1</i>, <i>ABCC-1</i>, <i>ABCG-2</i>, <i>ABCC-2</i>, <i>SLC22A</i>, <i>ERCC-5</i>, <i>BRCA-1</i>, <i>GSTM-3</i>, <i>GSTM-4</i> and <i>GSTM-5</i> genes appear to be associated with the therapeutic response and/or adverse effects of cisplatin. We recommend utilizing this information to minimize the risk of treatment failure due to chemoresistance and adverse effects on other organs.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"385-400"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142669607","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 RNLS gene polymorphisms on preeclampsia susceptibility: a meta-analysis study. RNLS基因多态性对子痫前期易感性的影响：一项荟萃分析研究。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-05-28 DOI: 10.1080/17410541.2024.2341608
Saeedeh Salimi, Abbas Mohammadpour-Gharehbagh, Mohaddeseh Hedayat, Hamidreza Galavi, Mahdiyeh Harati-Sadegh
{"title":"The effect of <i>RNLS</i> gene polymorphisms on preeclampsia susceptibility: a meta-analysis study.","authors":"Saeedeh Salimi, Abbas Mohammadpour-Gharehbagh, Mohaddeseh Hedayat, Hamidreza Galavi, Mahdiyeh Harati-Sadegh","doi":"10.1080/17410541.2024.2341608","DOIUrl":"10.1080/17410541.2024.2341608","url":null,"abstract":"<p><p><b>Aim:</b> The authors designed a meta-analysis to find a comprehensive result of the impact of <i>RNLS</i> polymorphisms on preeclampsia (PE) susceptibility. <b>Methods:</b> The online databases PubMed, Scopus, and Google Scholar were employed for the purpose of literature search. Data analysis was conducted using STATA (ver. 12.0) and MetaGenyo web tool. <b>Results:</b> The findings showed that the <i>RNLS</i> rs10887800 polymorphism could increase risk of PE in allelic, codominant heterozygous and dominant genetic models. In addition, the analysis indicated that the <i>RNLS</i> rs2576178 polymorphism was associated with higher risk of PE in allelic, codominant homozygous, dominant, and recessive models. <b>Conclusion:</b> The findings of meta-analysis showed that the <i>RNLS</i> rs10887800 and rs2576178 polymorphisms could increase risk of PE in several genetic models.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":"21 3","pages":"191-204"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141763601","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
Assessment of ADRB1 polymorphism in patients with acute coronary syndrome treated with ticagrelor and aspirin. 评估接受替卡格雷和阿司匹林治疗的急性冠状动脉综合征患者的 ADRB1 多态性。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-04-29 DOI: 10.2217/pme-2024-0004
Xiang Zhang, Qi Yuan, Dawei Zhang
{"title":"Assessment of <i>ADRB1</i> polymorphism in patients with acute coronary syndrome treated with ticagrelor and aspirin.","authors":"Xiang Zhang, Qi Yuan, Dawei Zhang","doi":"10.2217/pme-2024-0004","DOIUrl":"10.2217/pme-2024-0004","url":null,"abstract":"<p><p><b>Background:</b> This study investigated the influence of <i>ADRB1</i> gene rs1801253 polymorphism on the treatment response of ticagrelor and aspirin in patients with acute coronary syndrome (ACS). <b>Methods:</b> Genetic typing was detected by Sanger sequencing. Platelet inhibition was assessed using thromboelastography. Kaplan-Meier and Cox regression were applied for prognosis analysis. <b>Results:</b> Out of 200 participants, 94 cases with rs1801253-CC genotype and 106 cases with CG+GG genotype were found. There was no significant difference between the rs1801253-CC and CG+GG groups in the number of ST-segment elevation myocardial infarction, non-ST-segment elevation myocardial infarction and unstable angina patients. There was no statistical difference in the basic data of patients in the two groups in terms of age, sex, medical history and medicine use in the dominant model. The rs1801253-CC genotype was a risk prognostic factor for ACS patients based on the Cox regression analysis results. <b>Conclusion:</b> Detecting <i>ADRB1</i> polymorphism is crucial for ACS patients undergoing treatment with ticagrelor and aspirin.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"167-174"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140854436","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
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