Personalized medicinePub Date : 2024-01-01Epub Date: 2023-12-01DOI: 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}
Personalized medicinePub Date : 2024-01-01Epub Date: 2023-12-13DOI: 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}
Personalized medicinePub Date : 2024-01-01Epub Date: 2023-12-13DOI: 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}
{"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}
Personalized medicinePub Date : 2024-01-01Epub Date: 2024-05-28DOI: 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}
Personalized medicinePub Date : 2024-01-01Epub Date: 2024-04-29DOI: 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}
Personalized medicinePub Date : 2024-01-01Epub Date: 2024-09-30DOI: 10.1080/17410541.2024.2394397
Nader Al-Dewik, Tala Abuarja, Salma Younes, Gheyath Nasrallah, Mohamed Alsharshani, Faisal E Ibrahim, Muthanna Samara, Thomas Farrell, Palli Valapila Abdulrouf, M Walid Qoronfleh, Hilal Al Rifai
{"title":"Precision medicine activities and opportunities for shaping maternal and neonatal health in Qatar.","authors":"Nader Al-Dewik, Tala Abuarja, Salma Younes, Gheyath Nasrallah, Mohamed Alsharshani, Faisal E Ibrahim, Muthanna Samara, Thomas Farrell, Palli Valapila Abdulrouf, M Walid Qoronfleh, Hilal Al Rifai","doi":"10.1080/17410541.2024.2394397","DOIUrl":"10.1080/17410541.2024.2394397","url":null,"abstract":"<p><p>Precision Medicine (PM) is a transformative clinical medicine strategy that aims to revolutionize healthcare by leveraging biological information and biomarkers. In the context of maternal and neonatal health, PM enables personalized care from preconception through the postnatal period. Qatar has emerged as a key player in PM research, with dedicated programs driving advancements and translating cutting-edge research into clinical applications. This article delves into neonatal and maternal health in Qatar, emphasizing PM programs and initiatives that have been implemented. It also features noteworthy clinical cases that demonstrate the effectiveness of precision interventions. Furthermore, the article highlights the role of pharmacogenomics in addressing various maternal health conditions. The review further explores potential advancements in the application of PM in maternal and neonatal healthcare in Qatar.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"313-333"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335398","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}
Personalized medicinePub Date : 2024-01-01Epub Date: 2024-10-22DOI: 10.1080/17410541.2024.2412512
Hanxing Huang, Lihan Xiao, Min Xiao, Kaiying Chen, Wentian Zheng, Ning Wu
{"title":"miR-559 rs58450758 polymorphism is associated with colorectal cancer risk and prognosis in Chinese Han population.","authors":"Hanxing Huang, Lihan Xiao, Min Xiao, Kaiying Chen, Wentian Zheng, Ning Wu","doi":"10.1080/17410541.2024.2412512","DOIUrl":"10.1080/17410541.2024.2412512","url":null,"abstract":"<p><p><b>Aim:</b> This research examined the correlation between miR-559 rs58450758 and the clinical pathological characteristics and prognosis of CRC.<b>Materials & methods:</b> RT-qPCR was utilized to assess the miR-559 expression levels. Chi-square test was used to investigate the relationship between miR-559 and clinical features. The association between rs58450758 different genotypes and CRC risk, as well as clinical pathological parameters, was explored, utilizing logistic regression analysis and chi-square tests. The Cox regression model and Kaplan-Meier analysis evaluated overall survival in individuals with CRC.<b>Results:</b> The miR-559 was down-regulated in CRC patients' serum. The expressions of miR-559 were significantly associated with tumor size, differentiation, TNM stage and lymph node metastasis. The rs58450758 TT genotype and T allele carriers were more prevalent among CRC patients. The rs58450758 polymorphism was notably linked to tumor size, differentiation, TNM stage and lymph node metastasis in CRC patients. Furthermore, CC genotype carriers exhibited a longer survival period than CT/TT genotypes within the CRC population.<b>Conclusion:</b> The miR-559 rs58450758 polymorphism exhibits promise as a potential biomarker for prognosticating the outcomes of CRC.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"303-311"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515568","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}
Personalized medicinePub Date : 2024-01-01Epub Date: 2023-12-07DOI: 10.2217/pme-2023-0110
Etan Marks, Anais A Badia, Matthew S Goldberg
{"title":"Diagnostic utility of the 23-gene expression profile test for an atypical intradermal melanocytic proliferation.","authors":"Etan Marks, Anais A Badia, Matthew S Goldberg","doi":"10.2217/pme-2023-0110","DOIUrl":"10.2217/pme-2023-0110","url":null,"abstract":"<p><p>Ancillary tests such as immunohistochemistry (IHC) and gene expression profile (GEP) testing may be needed to arrive at a definitive diagnosis for some atypical melanocytic neoplasms. A 34-year-old male with a family history of melanoma presented with a large, heterogeneous melanocytic lesion on the cheek. Histopathological review of two biopsies revealed an atypical intradermal melanocytic proliferation with spitzoid features without ulceration or regression. Scattered mitotic figures were identified. In addition to performing SOX10 IHC, PRAME and HMB45 staining highlighted weak, patchy positivity that was stronger in superficial, pleomorphic melanocytes (Ki-67, 5-7% mitotic rate). Based on these concerning but ambiguous IHC results and lingering concern for melanoma reiterated by other consulting dermatopathologists, the 23-GEP was requested for both specimens, which both returned a malignant result. The inconclusive histopathological features of malignancy were resolved by 23-GEP testing, facilitating a final diagnosis of malignant melanoma (pT3a, 2.5 mm Breslow depth, Clark's level IV).</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"21-27"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138500598","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}
{"title":"Introduction of a single-nucleotide variant, rs16851030, into the <i>ADORA1</i> gene increased cellular susceptibility to hypoxia.","authors":"Poh Kuan Wong, Saiful Effendi Syafruddin, Fook Choe Cheah, Norazrina Azmi, Pei Yuen Ng, Eng Wee Chua","doi":"10.1080/17410541.2024.2412514","DOIUrl":"10.1080/17410541.2024.2412514","url":null,"abstract":"<p><p><b>Aim:</b> Rs16851030, a single-nucleotide variant located in the 3'-untranslated region of the <i>ADORA1</i> gene, has been proposed as a potential marker of caffeine sensitivity in apnea of prematurity. Besides, it is associated with aspirin-induced asthma and the development of acute chest syndrome. However, its functional significance is still unconfirmed. This study aimed to elucidate the functional impact of rs16851030 by using CRISPR/Cas9 approach to induce the DNA variant and attendant physiological changes.<b>Methods:</b> Rs16851030 was introduced into HEK293 cells via homology-directed repair (HDR). Edited cells were fluorescence-enriched, sorted, isolated, and expanded into single-cell-derived clones. The edit was confirmed by Sanger sequencing. RNA sequencing was used to analyze affected pathways.<b>Results:</b> Rs16851030-mutant cells showed increased susceptibility to hypoxia, a condition related to apnea of prematurity. After 24 h of hypoxia, the viability of mutant clones 1 and 2 was low compared with wild-type cells (75.45% and 74.47% vs. 96.34%). RNA sequencing revealed transcriptomic changes linked to this increased vulnerability.<b>Conclusion:</b> Rs16851030 impairs cellular resistance to hypoxia, suggesting its role in conditions like apnea of prematurity. Further research should investigate the molecular mechanisms and transcriptomic alterations caused by rs16851030 under hypoxic conditions.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"353-366"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515567","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}