International Journal of Medical Sciences最新文献

{"title":"<i>NSUN2</i> rs13181449 variant decreases the risk of oral cancer development.","authors":"Li-Chung Hung, Cheng-Chen Huang, Yen-Ting Lu, Chun-Wen Su, Chiao-Wen Lin, Hsiao-Ju Chu, Shun-Fa Yang, Hsueh-Ju Lu","doi":"10.7150/ijms.113676","DOIUrl":"10.7150/ijms.113676","url":null,"abstract":"<p><p>NOP2/Sun RNA methyltransferase 2 (NSUN2), encoded by the <i>NSUN2</i> gene, is a nuclear RNA methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C). Although RNA modification has been widely discussed in cancer development and prognosis, the role of the <i>NSUN2</i> gene in oral cavity squamous cell carcinoma (OCSCC) is unclear. This was a retrospective, case-control study. A total of 2514 participants were enrolled, including 52.4% (1318/2514) diagnosed with OCSCC and others as health control. The impact of <i>NSUN2</i> rs4702373, rs166049, rs13181449, and rs8192120 on cancer development and prognosis were analyzed. Our results revealed that <i>NSUN2</i> rs13181449 allele TT was significantly associated with lower OCSCC risk, with an adjusted odd ratio (AOR) [95% confidence index (CI)] of 0.757[0.575-0.997]. For cigarette smokers, the impact of rs13181449 was more obvious that AOR [95% CI] of allele CT, TT, and CT+TT were 0.760 [0.583-0.991], 0.699 [0.493-0.990], 0.746 [0.580-0.960], respectively. For OCSCC patients, rs4702373 allele CT was independently associated with advanced histological grade. Expression levels between different allele mutations were various in the GTE database. Mutant rs4702373 and rs166049 were associated with higher expression than the wild type, conversely mutant rs13181449 had lower expression. In the TCGA database, the trend that patients with higher expression had worse survival than those with lower expression was shown. In conclusion, <i>NSUN2</i> rs13181449 was associated with lower cancer risk, especially for cigarette smokers. Unlikely other allele mutations, rs13181449 was correlated to lower expression. Patients with higher expression had worsened clinical outcomes.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"3022-3031"},"PeriodicalIF":3.2,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12243962/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Potential Predictor of Proximal Flow-Diverter Stent Jailed Artery Stenosis: Distal to Proximal Artery Diameter Ratio.","authors":"Yudi Tang, Peike Chen, Jian Lv, Haining Wei, Xiaoyan Wang, Junqiang Feng, Yuhua Jiang, Peng Liu, Youxiang Li, Yunna Yang","doi":"10.7150/ijms.115452","DOIUrl":"10.7150/ijms.115452","url":null,"abstract":"<p><strong>Background: </strong>Flow-diverting stents (FDS) are widely used in the treatment of intracranial aneurysms. During treatment, many side branches-especially small ones-are inevitably covered, leading to narrowing and impaired blood flow. However, the factors contributing to stenosis have not been thoroughly studied.</p><p><strong>Methods: </strong>A retrospective cross-sectional study was conducted. Digital subtraction angiography (DSA) images and clinical data were collected. Two neuroradiologists independently assessed arterial geometry characteristics. Participants were divided into a narrow group and unchanged group based on preoperative and follow-up data, and the characteristics of the two groups were compared. A simplified model was established to evaluate changes in wall shear stress (WSS) before and after FDS implantation.</p><p><strong>Results: </strong>The distal small branch diameter in the unchanged group was significantly smaller than that in the narrow group. The ratio of distal to proximal diameters of the ophthalmic artery (DPOA) in the narrow group was concentrated between 0.9 and 1.1. WSS in the proximal ophthalmic artery region (POAR) increased with larger distal ophthalmic artery diameters, both pre- and post-operatively. The difference between preoperative and postoperative WSS also increased with higher DPOA. <b>Conclusions:</b> After FDS implantation, the WSS of most jailed ophthalmic arteries in POAR decreased. However, in cases with proximal stenosis, the DPOA of these jailed ophthalmic arteries was primarily concentrated between 0.9 and 1.1. This pattern may occur because WSS decreased from high level to low level.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"3044-3052"},"PeriodicalIF":3.2,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12244041/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The correlation between intraocular pressure and choroidal microcirculation in patients with high myopia.","authors":"Dongjie Song, Yutong Han, Zongchan Zhang, Jiayun Ge, Kuangqi Chen, Jianping Tong, Ye Shen","doi":"10.7150/ijms.113035","DOIUrl":"10.7150/ijms.113035","url":null,"abstract":"<p><p><b>Background:</b> High myopia (HM) is a leading cause of visual impairment worldwide and the choroid plays a key role in HM progression. Intraocular pressure (IOP) may also be involved in HM development, while the relationship between IOP and choroidal microcirculation in HM patients remains poorly characterized. <b>Purpose:</b> To investigate the correlation between IOP and choroidal microcirculation in HM individuals using swept-source optical coherence tomography angiography (SS-OCTA). <b>Methods:</b> This cross-sectional observational study enrolled 118 eyes of 118 participants aged 18-30, comprising 64 HM eyes (axial lengths (AL) ≥ 26mm) and 54 mild-to-moderate myopic (MM) eyes (AL < 26 mm). Data on spherical equivalent (SE), AL and central corneal thickness (CCT) were collected. IOP was measured using a non-contact tonometer (NCT) and corrected with a formula to minimize the effect of CCT. Based on ETDRS classification, choroidal thickness (ChT) and vascular parameters including choriocapillaris layer vessel density (ChCVD), choroidal vascular index (CVI), choroidal vascular volume (CVV), choroidal stromal volume (CSV) and choroidal stromal density (CSI) were calculated from SS-OCTA. <b>Results:</b> In this cohort, HM eyes exhibited higher corrected IOP (<i>P</i> < 0.05) and lower ChT, CVV and CSV across all grids compared to MM eyes (<i>P <</i> 0.001). Increased CSI and decreased CVI were also observed in most sectors of the HM eyes (<i>P</i> < 0.05). After adjusting for age, gender and AL, corrected IOP was correlated with SE, ChT, CVI and CSI in the subfoveal central and inner nasal grids among HM patients (<i>P</i> < 0.05). No significant correlation was found between AL and corrected IOP (<i>P</i> > 0.05). <b>Conclusion:</b> In our population, compared to MM eyes, HM eyes showed higher IOP levels, which were negatively correlated with SE but not AL. Additionally, elevated IOP was observed to be associated with reduced choroidal thickness and vascularity in specific macular regions. The potential link between IOP and choroidal microcirculation may be involved in HM progression.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"3032-3043"},"PeriodicalIF":3.2,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12244010/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integration of Multi-Scale Profiling and Machine Learning Reveals the Prognostic Role of Extracellular Matrix-Related Cancer-Associated Fibroblasts in Lung Adenocarcinoma.","authors":"Ziyi Chen, Mengyuan Chen, Changqing Yang, Jiajing Wang, Yuan Gao, Yuanying Feng, Dongqi Yuan, Peng Chen","doi":"10.7150/ijms.113580","DOIUrl":"10.7150/ijms.113580","url":null,"abstract":"<p><p>Lung adenocarcinoma (LUAD) remains a leading cause of cancer mortality, necessitating novel therapeutic targets and prognostic strategies. This study investigates the role of extracellular matrix cancer-associated fibroblasts (eCAFs) and their interaction with SPP1+ macrophages in LUAD progression and prognosis. Utilizing single-cell RNA sequencing from 15 LUAD tumors and integrating multi-cohort transcriptomic data (TCGA, GSE31210, GSE72094), we identified eCAFs as a dominant CAF subtype in advanced-stage tumors and high-grade pathological subtypes, correlating with poor patient survival. Similarly, SPP1+ macrophages exhibited increased abundance in advanced tumors and adverse prognosis. Pseudotime trajectory analysis revealed eCAFs as an evolutionary endpoint in CAF differentiation, associated with extracellular matrix remodeling pathways (COLLAGEN, FN1). Cell-cell communication analysis highlighted eCAFs-SPP1+ macrophage interactions via COL1A1-CD44 and COL1A2-CD44 ligand-receptor pairs, suggesting a mechanism for immune-excluded microenvironments. A prognostic model incorporating 28 eCAFs-related genes, validated through 101-machine learning algorithms, effectively stratified patients into high- and low-risk groups across cohorts. This study underscores eCAFs as key drivers of LUAD progression and proposes their interplay with SPP1+ macrophages as a therapeutic target. The developed prognostic signature offers clinical utility for risk stratification, though further experimental validation is warranted. These findings advance understanding of stromal-immune crosstalk in LUAD and highlight ECM remodeling as a critical pathway in tumor evolution.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"2956-2972"},"PeriodicalIF":3.2,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12243870/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cancer-Associated <i>PIK3R1</i> Genetic Aberrations and Precision Medicine.","authors":"Huan Xie, Yirong Li, Xinran Li","doi":"10.7150/ijms.109506","DOIUrl":"10.7150/ijms.109506","url":null,"abstract":"<p><p>The <i>PIK3R1</i> gene encodes the class IA PI3K regulatory subunit p85α, which is frequently altered in cancer. <i>PIK3R1</i> functions as a tumor suppressor by stabilizing and inhibiting the catalytic activity of p110, and it directly binds to and enhances the activity of the PTEN lipid phosphatase. Aberrations in the <i>PIK3R1</i> gene are associated with poor prognosis in cancer; available data underscore the significant role of <i>PIK3R1</i> mutations in mediating tumorigenesis by promoting the signaling of the PI3K/AKT/mTOR pathway. Moreover, copy number variations, driver mutations, and epigenetic alterations in <i>PIK3R1</i> contribute to tumorigenesis and progression through distinct mechanisms. This article reviews the cancer-promoting effects of <i>PIK3R1</i> gene aberrations across major cancer types and elucidates their underlying mechanisms. It also discusses the targeted therapies for related aberrations, aiming to provide a comprehensive understanding of the dynamic interplay of <i>PIK3R1</i> in cancer, thereby advancing precision medicine and the development of targeted interventions.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"2932-2943"},"PeriodicalIF":3.2,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12243862/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CircRNA Sequencing Analysis Reveals the Regulatory Role of circ_CDR1as in Penile Squamous Cell Carcinoma via the ceRNA Network.","authors":"Lin Du, Shanshan Lv, Zhenzhen Jiang, Xiaohong Song, Leping Liu, Rong Huang, Xinmin Nie, Rong Gui, Jian Li, Junhua Zhang, Jie Guo, Jian Cao, Zhizhong Liu, Zhaojian Gong, Yanwei Luo","doi":"10.7150/ijms.112109","DOIUrl":"10.7150/ijms.112109","url":null,"abstract":"<p><p>Penile squamous cell carcinoma (PSCC) is a malignant reproductive tumor, and circRNAs are essential regulators in the progression of cancers. However, their specific roles in PSCC have not been adequately investigated, which are available to function via the competing endogenous RNA (ceRNA) network. We collected 5 normal and 6 PSCC tissue samples for bulk RNA sequencing and obtained differentially expressed circRNAs (DE-circRNAs) and differentially expressed mRNAs (DE-mRNAs). Then we conducted a correlation analysis between them, followed by the prediction and intersection of their target miRNAs and mRNAs by online databases. We constructed a ceRNA network of 11 circRNAs, 14 miRNAs, and 33 mRNAs. The enrichment analysis showed that the positively circRNA-related mRNAs are mainly involved in the positive regulation of leukocyte activation and cell adhesion. It was revealed that circ_CDR1as and its target gene GATA6 were significantly downregulated in PSCC, and their reduction in tumor samples was validated by an external dataset and qRT-PCR, indicating a potential regulatory relationship between them. Our study identified that circ_CDR1as may affect PSCC progression through the circRNA-miRNA-mRNA network, and GATA6 could be one of its possible targets for PSCC therapy strategies.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"2919-2931"},"PeriodicalIF":3.2,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12243860/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Overview of the Role of Genetic factors in Idiopathic Pulmonary Fibrosis: Insights from Epidemiology to Prognosis.","authors":"Jiahao Liu, Zihan Yi, Ting Chen, Yinghua Ying, Yue Hu","doi":"10.7150/ijms.113226","DOIUrl":"10.7150/ijms.113226","url":null,"abstract":"<p><p>Idiopathic pulmonary fibrosis (IPF), a chronic progressive fibrosing interstitial lung disease with an unclear etiology, is characterized by progressive respiratory impairment and a median survival of 3-5 years. The pathophysiology associated with genetic factors in IPF remains largely unknown, despite the fact that both familial and sporadic IPF exhibit genetic susceptibility. In this review, we comprehensively examine genetic variations associated with the functional roles of mucin 5B (MUC5B), telomerase complex, surfactant proteins, cytokines, signaling pathways, and epigenetic mechanisms. A multifaceted perspective derived from genetic, epidemiological, and clinical studies demonstrates that genetic variations exert differential impacts on the development, progression, and prognosis of IPF. We advocate for the application of genetic knowledge to facilitate the refinement of diagnostic approaches, enhance the assessment of therapeutic strategies and prognostic outcomes, and underscore the significance of personalized therapy for IPF.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"2992-3006"},"PeriodicalIF":3.2,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12244033/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between Vessels Encapsulating Tumor Clusters and Circulating Tumor Cells in Hepatocellular Carcinoma: Clinical Evidence and Risk Model Development.","authors":"Da-Feng Xu, Rong-Rong Li, Chang Shu, Ya-Ni Li, Ran Tao, Yue-Yue Chen, Hui-Yuan Yang, Xiao-Ping Chen, Jing-Jing Yu, Wei Xiao","doi":"10.7150/ijms.111025","DOIUrl":"10.7150/ijms.111025","url":null,"abstract":"<p><p><b>Background:</b> Vessels encapsulating tumor clusters (VETC) and circulating tumor cells (CTCs) are recognized as emerging potential biomarkers in hepatocellular carcinoma (HCC), yet the underlying connection between them is not fully elucidated. This study aims to investigate the association between VETC and CTCs and evaluate their potential clinical utility. <b>Methods:</b> This retrospective cohort study (NCT05297955) included 165 HCC patients who underwent curative hepatic resection. VETC was identified via CD34 immunohistochemical staining, and preoperative CTC levels were measured using the CellSearch platform. Propensity score matching (PSM) adjusted for confounders, and LASSO-Cox regression was used to develop a prognostic model. <b>Results:</b> VETC-positive tumors were significantly associated with increased disease progression and shorter overall survival (OS) and disease-free survival (DFS). Elevated preoperative CTC counts showed a robust correlation with the VETC phenotype. The co-occurrence of VETC and CTCs emerged as a powerful prognostic indicator for both OS and DFS. A novel DFS prediction model, Vrisk, incorporating VETC, CTC, and four additional factors, demonstrated superior predictive performance compared to conventional staging systems. <b>Conclusions:</b> The study establishes a strong association between VETC, elevated CTC levels, and poorer prognosis in HCC, providing critical insights into their functional roles and potential as biomarkers for clinical applications.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"2944-2955"},"PeriodicalIF":3.2,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12243867/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of individualized PEEP titrated by EIT on postoperative atelectasis in children undergoing laparoscopy: A randomized controlled trial.","authors":"Sheng-Hua Wang, Ye Wang, Si-Yuan Li, Lai Jiang, Yan-Fei Mao, Qin Xia, Han Gan","doi":"10.7150/ijms.112280","DOIUrl":"10.7150/ijms.112280","url":null,"abstract":"<p><p><b>Background:</b> Atelectasis is common during perioperative period in children. Although positive end positive end-expiratory pressure (PEEP) has been identified as a lung protective ventilation strategy to alleviate atelectasis, there's still no consensus on the optimal value of PEEP. We hypothesized that individualized PEEP titrated by electrical impedance tomography (EIT) may reduce the incidence of postoperative atelectasis. <b>Methods:</b> A total of 50 children aged between 2 to 7, undergoing laparoscopic hernia repair, were randomly divided into two groups according to the principle of randomization: a control group (PEEP5) and an experimental group (EIT). In the control group, PEEP was set to a fixed value of 5mmHg during pneumoperitoneum mechanical ventilation. The EIT group received an individualized PEEP determined by a decremental PEEP titration using EIT. Ultrasonic assessment and score of atelectasis were carried out post-intubation, post-surgery, and one hour post-extubation. For this study, a total of 12 lung regions were evaluated by Lung ultrasonography, and significant atelectasis was defined by a consolidation score of at least 2 in any region. The primary outcome was the incidence of atelectasis at post-surgery. <b>Results:</b> The incidence of atelectasis after surgery was 92% in the control groups (n=25) and 64% in the EIT groups (n=25), respectively (odds ratio [OR], 0.72; 95% confidence interval [CI], 0.094 to 4.827; P = 0.037). The incidence of atelectasis after 1h post-extubation was 80% in the control groups (n=20) and 48% in the EIT groups (n=12), respectively (odds ratio [OR], 0.59; 95% confidence interval [CI], 0.149 to 2.215; P = 0.038). Both lung consolidations and B-lines score were significantly higher in control group than in the EIT group after surgery (consolidations: 9 vs. 7, P = 0.027; B-lines: 11 vs. 8, P = 0.002) and 1h post-extubation (consolidations: 7 vs. 4, P = 0.018; B-lines: 7 vs. 5, P = 0.037). Lung compliance using optimal PEEP during mechanical ventilation was 20.0±3.3 ml/cm H₂O. The desaturation (pulse oximeter value is below 95%) after extubation was observed in 7 in the control group and 1 in the EIT group (P = 0.048). Hemodynamics were stable during titration. <b>Conclusion:</b> EIT-directed individualized PEEP titration can reduce the incidence and severity of postoperative atelectasis in children undergoing laparoscopic surgery.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"3007-3013"},"PeriodicalIF":3.2,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12243984/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the Role of Immune Cells in Glioma: Causal Associations and Clinical Implications.","authors":"Yimin Pan, Xiaoshun Sun, Fushu Luo, Zheng Chen, Chunbo Liu, Yongye Zhu, Jiaxiang Wang, Ruixuan Chen, Qing Liu, Changwu Wu, Jun Tan","doi":"10.7150/ijms.116560","DOIUrl":"10.7150/ijms.116560","url":null,"abstract":"<p><p><b>Background:</b> Gliomas, the predominant malignant neoplasm of the central nervous system, are notorious for their recurrence and unfavourable prognosis. Immune cells play a pivotal role in the progression of various solid tumors, including gliomas. This study aims to explore the potential causal effect of immune cells on the risk of glioma and the association between immune cells and clinical characteristics in glioma. <b>Materials and Methods:</b> This study used the public genome-wide association studies (GWAS) summary data of 731 immune cell traits and gliomas to perform two-sample Mendelian randomization (MR) analysis. The MR analysis primarily employed the inverse variance weighting (IVW) method, supplemented by three additional methods, alongside comprehensive pleiotropy and heterogeneity analyses. In addition, 151 glioma samples were collected for RNA-Seq to construct the CSUXY cohort, and RNA-Seq data and clinical information of 588 glioma samples in the TCGA cohort were collected. The associations between immune cell abundance and clinical characteristics and drug sensitivity of each sample were inferred in the two cohorts. <b>Results:</b> Based on the IVW method, this study identified potential causal associations between 16 immune cell traits and the risk of glioma. The other three MR analysis methods had consistent causal directions with the IVW method and there was no horizontal pleiotropy and heterogeneity. Higher levels of immune cell infiltration were observed in IDH wild-type and 1p19q non-codel gliomas compared to IDH mutant and 1p19q codel gliomas across both the CSUXY and TCGA cohorts. In addition, the abundance of immune cells was also associated with the grade, histological subtype and prognosis of gliomas. Finally, this study also identified broad associations between immune cell abundance and drug sensitivity in glioma. <b>Conclusion:</b> This study supports the causal effects of specific immune cell traits on glioma and confirms the associations between immune cells and clinical characteristics, as well as drug sensitivity in glioma, providing evidence for the development of immune cell-based biomarkers.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 12","pages":"2973-2991"},"PeriodicalIF":3.2,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12244049/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}