Genetics researchPub Date : 2025-05-19eCollection Date: 2025-01-01DOI: 10.1155/genr/2237539
Di Cui, Wenye Yang, Bo Guan, Wenxu Wu, Wenjiang Yu
{"title":"Identification of <i>ECI2</i> as Potential Prognostic Biomarkers Based on a Fatty Acid Metabolism-Related Gene Model in Clear Cell Renal Cell Carcinoma.","authors":"Di Cui, Wenye Yang, Bo Guan, Wenxu Wu, Wenjiang Yu","doi":"10.1155/genr/2237539","DOIUrl":"10.1155/genr/2237539","url":null,"abstract":"<p><p><b>Background:</b> Clear cell renal cell carcinoma (ccRCC) is the most common and highly malignant subtype of renal cancer, characterized by significant lipid deposition. Research has indicated that its growth and metastasis are closely associated with fatty acid metabolism. <b>Methods:</b> In this study, we integrated TCGA transcriptome data, CPTAC proteomics data, and the single-cell dataset GSE152938 to identify differentially expressed genes related to fatty acid metabolism in ccRCC. Using the LASSO algorithm, we constructed a prognostic model based on these genes. Western blot and PCR analyses confirmed the expression levels of the <i>ECI2</i> in ccRCC, while lentiviral transduction was used to investigate the effects of <i>ECI2</i> expression on tumor biological behaviors. <b>Results:</b> Our findings demonstrated that <i>ECI2</i> expression is downregulated in ccRCC, and lower <i>ECI2</i> levels correlate with better patient prognosis. Functional assays showed that overexpression of <i>ECI2</i> significantly inhibited the proliferation and migration of ccRCC cells and increased their sensitivity to the chemotherapeutic drug oxaliplatin. <b>Conclusion:</b> This study highlights the potential tumor-suppressive role of <i>ECI2</i> in ccRCC and suggests its viability as a diagnostic and therapeutic target.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"2237539"},"PeriodicalIF":1.4,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12105886/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genetics researchPub Date : 2025-05-18eCollection Date: 2025-01-01DOI: 10.1155/genr/6104753
Qi Guo, Guang-Hong Huang, Pu Chen, Chao Guo
{"title":"Upregulated Expression of SHMT2 Predicts Poor Survival of Lung Adenocarcinoma.","authors":"Qi Guo, Guang-Hong Huang, Pu Chen, Chao Guo","doi":"10.1155/genr/6104753","DOIUrl":"10.1155/genr/6104753","url":null,"abstract":"<p><p><b>Backgrounds:</b> Serine hydroxy methyltransferase 2 (SHMT2) exerts an essential function in the cellular serine/glycine biosynthesis and one-carbon metabolism. Accumulative evidence revealed that SHMT2 was involved in cancer initiation and development in several types of carcinomas such as glioma, intrahepatic cholangiocarcinoma and colorectal cancer. However, expression and role of SHMT2 in lung adenocarcinoma (LUAD) had not been fully investigated. <b>Methods:</b> Transcriptional information of SHMT2 was retrieved from TCGA database. mRNA and protein expression of SHMT2 were analyzed in LUAD tissues alongside adjacent normal lung tissues using quantitative RT-PCR and immunohistochemical staining. The prognostic significance of SHMT2 in LUAD was assessed through both univariate and multivariate statistical analyses. <b>Results:</b> SHMT2 was higher in LUAD tissues than that in adjacent lung tissues on transcriptional level, mRNA level, and protein level. Elevated SHMT2 protein levels were associated with increased tumor size, positive lymph node metastasis, and more advanced TNM stages. LUAD patients with high SHMT2 level had worse prognosis. <b>Conclusions:</b> Our research indicated that elevated SHMT2 expression is strongly linked to adverse clinical characteristics and poor prognosis in LUAD patients. Consequently, SHMT2 may represent a novel prognosis marker and a promising therapeutic target regarding the treatment of LUAD.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"6104753"},"PeriodicalIF":1.4,"publicationDate":"2025-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12103952/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genetics researchPub Date : 2025-05-18eCollection Date: 2025-01-01DOI: 10.1155/genr/5887056
Jie Jiao, Honglei Wang, Danping Sun, Wenbin Yu
{"title":"Investigating the Causality and Pathogenesis of Primary Sclerosing Cholangitis in Colorectal Cancer Through Mendelian Randomization and Bioinformatics.","authors":"Jie Jiao, Honglei Wang, Danping Sun, Wenbin Yu","doi":"10.1155/genr/5887056","DOIUrl":"10.1155/genr/5887056","url":null,"abstract":"<p><p><b>Introduction:</b> The relationship between autoimmune diseases and cancer risk has been increasingly studied. Colorectal cancer, a common malignancy with high morbidity and mortality, has been closely linked to inflammatory bowel disease (IBD) in previous research. However, the association and pathogenesis between primary sclerosing cholangitis (PSC) in autoimmune diseases and colorectal cancer remain incompletely understood. Our study directly investigated the relationship between PSC and colorectal cancer, excluding the influence of IBD, and provided new insights into this association. <b>Methods:</b> Mendelian randomization (MR) analysis was first used to investigate the potential causal relationship between PSC and colorectal cancer. Sensitivity analyses were performed to verify the reliability of the MR results. Transcriptomic data were then analyzed based on the Cancer Genome Atlas (TCGA) and the Gene Expression Omnibus (GEO) database, combined with clinical prognostic data for the final identification of core differential genes. <b>Results:</b> MR analysis demonstrated that genetic susceptibility to PSC was associated with an increased risk of colorectal cancer in a European population cohort (ratio: 1.038, 95% confidence interval: 1.016-1.060, and <i>p</i> < 0.001). Furthermore, sensitivity analyses confirmed the robustness of the MR results. Univariate and multivariate Cox analyses identified five core genes: NEDD4L, PPP1R1A, NRG1, KCNJ16, and NECAB2. Patients grouped according to high or low expression of NRG1 showed significant differences in their prognosis (<i>p</i> < 0.001). <b>Conclusion:</b> Our MR study provides evidence that genetic susceptibility to PSC is significantly associated with an increased risk of colorectal cancer in European populations. Analysis of transcriptomic data suggests that NRG1 can be used as a novel biomarker to predict patient prognosis when colorectal cancer and PSC coexist.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"5887056"},"PeriodicalIF":1.4,"publicationDate":"2025-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12103968/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genetics researchPub Date : 2024-12-19eCollection Date: 2024-01-01DOI: 10.1155/genr/5148918
Beina Liu, Rong Wang, Ying He
{"title":"A Preliminary Study on Transcriptional Regulation of SNP Site C-1888T in the Promoter Region of Human PLUNC Gene and Nasopharyngeal Carcinoma Susceptibility.","authors":"Beina Liu, Rong Wang, Ying He","doi":"10.1155/genr/5148918","DOIUrl":"10.1155/genr/5148918","url":null,"abstract":"<p><p><b>Purpose:</b> The transcriptional regulatory factors binding to the polymorphic site C-1888T in the promoter region of the palate, lung, and nasal epithelium clone (PLUNC) gene were identified to investigate whether the C-1888T polymorphic site affects the transcriptional regulation and function of PLUNC gene. <b>Materials and Methods:</b> Three genotypes of C-1888T polymorphic locus were screened from established nasopharyngeal carcinoma (NPC) cells, and the mRNA expression levels of PLUNC gene in different genotypes were detected. The respective transcription factors that were more likely to bind with A or G in SNP were predicted by biological information and preliminarily verified in vitro by gel electrophoresis migration rate analysis. Ulteriorly, the NPC cell lines were analyzed through chromatin immunoprecipitation combined with PCR amplification to confirm that the transcription factors could bind to the PLUNC gene promoter. <b>Results:</b> The cell lines 5-8F, 6-10B, CNE1, and CNE2 were heterozygous CT type, SUNE1 was homozygous CC type, and C666-1 was homozygous TT type. The expression of PLUNC gene was significantly different among all cell lines (<i>F</i> = 33.844, <i>p</i> < 0.001), and the gene expression level of CC type was significantly lower than TT type (<i>p</i> < 0.001). Gel electrophoresis mobility analysis confirmed that the transcription factors XFD3 and EVI1 could bind to the PLUNC gene promoter when the SNP was A and G, respectively. PCR amplification combined with chromatin immunoprecipitation showed that EVI1 could bind to the DNA fragment of the promoter region of PLUNC gene in SUNE1 NPC cells. <b>Conclusion:</b> The transcription factors XFD3 and EVI1 may be involved in the transcriptional regulation of PLUNC gene, and EVI1 can bind to the promoter region of PLUNC gene in SUNE1 NPC cells, thus associated with the susceptibility/risk of NPC.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2024 ","pages":"5148918"},"PeriodicalIF":1.4,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11671629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genetics researchPub Date : 2024-09-30eCollection Date: 2024-01-01DOI: 10.1155/2024/3005195
Kun Chen, Lei Pu, Yuzuo Hui
{"title":"Pivotal Role of FBXW4 in Glioma Progression and Prognosis.","authors":"Kun Chen, Lei Pu, Yuzuo Hui","doi":"10.1155/2024/3005195","DOIUrl":"https://doi.org/10.1155/2024/3005195","url":null,"abstract":"<p><strong>Backgrounds: </strong>Glioma stands as one of the most formidable brain tumor types, with patient outcomes remaining bleak even in the face of advancements in treatment modalities. FBXW4, a constituent of the F-box and WD repeat domain-containing protein family, is recognized for its participation in diverse cellular activities, including those related to tumor dynamics. Yet, the therapeutic relevance and specific role of FBXW4 in the context of glioma are not well defined. This study aims to elucidate the functional dynamics and significance of FBXW4 in glioma cases.</p><p><strong>Methods: </strong>This research undertook a comprehensive analysis of FBXW4's expression patterns and clinical relevance in glioma by harnessing data from the TCGA and GTEx databases.</p><p><strong>Results: </strong>The investigation revealed a distinct downregulation of FBXW4 in glioma tissues compared to normal brain counterparts, with a pronounced correlation between FBXW4 levels and disease severity. Intriguingly, FBXW4 expression inversely related to WHO tumor grades, with the most advanced grade IV gliomas exhibiting the lowest FBXW4 levels, whereas grade II tumors demonstrated the highest. Cases presenting with IDH1/2 mutations or 1p/19q codeletions were also associated with elevated FBXW4 levels. Furthermore, diminished FBXW4 expression aligned with an increased risk of mortality.</p><p><strong>Conclusions: </strong>The findings suggest that FBXW4 holds promise as a prognostic marker and a potential therapeutic avenue in glioma management. Nonetheless, future research is imperative to decode the intricate signaling pathways involving FBXW4 and to understand its broader clinical ramifications in glioma treatment paradigms.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2024 ","pages":"3005195"},"PeriodicalIF":1.4,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11458277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142389916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Comprehensive Analysis of the Mechanism of Anoikis in Hepatocellular Carcinoma.","authors":"Dongqian Li,Qian Bao,Shiqi Ren,Haoxiang Ding,Chengfeng Guo,Kai Gao,Jian Wan,Yao Wang,MingYan Zhu,Yicheng Xiong","doi":"10.1155/2024/8217215","DOIUrl":"https://doi.org/10.1155/2024/8217215","url":null,"abstract":"BackgroundHepatocellular carcinoma (HCC), ranking as the second-leading cause of global mortality among malignancies, poses a substantial burden on public health worldwide. Anoikis, a type of programmed cell death, serves as a barrier against the dissemination of cancer cells to distant organs, thereby constraining the progression of cancer. Nevertheless, the mechanism of genes related to anoikis in HCC is yet to be elucidated.MethodsThis paper's data (TCGA-HCC) were retrieved from the database of the Cancer Genome Atlas (TCGA). Differential gene expression with prognostic implications for anoikis was identified by performing both the univariate Cox and differential expression analyses. Through unsupervised cluster analysis, we clustered the samples according to these DEGs. By employing the least absolute shrinkage and selection operator Cox regression analysis (CRA), a clinical predictive gene signature was generated from the DEGs. The Cell-Type Identification by Estimating Relative Subsets of RNA Transcripts (CIBERSORT) algorithm was used to determine the proportions of immune cell types. The external validation data (GSE76427) were procured from Gene Expression Omnibus (GEO) to verify the performance of the clinical prognosis gene signature. Western blotting and immunohistochemistry (IHC) analysis confirmed the expression of risk genes.ResultsIn total, 23 prognostic DEGs were identified. Based on these 23 DEGs, the samples were categorized into four distinct subgroups (clusters 1, 2, 3, and 4). In addition, a clinical predictive gene signature was constructed utilizing ETV4, PBK, and SLC2A1. The gene signature efficiently distinguished individuals into two risk groups, specifically low and high, demonstrating markedly higher survival rates in the former group. Significant correlations were observed between the expression of these risk genes and a variety of immune cells. Moreover, the outcomes from the validation cohort analysis aligned consistently with those obtained from the training cohort analysis. The results of Western blotting and IHC showed that ETV4, PBK, and SLC2A1 were upregulated in HCC samples.ConclusionThe outcomes of this paper underscore the effectiveness of the clinical prognostic gene signature, established utilizing anoikis-related genes, in accurately stratifying patients. This signature holds promise in advancing the development of personalized therapy for HCC.","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"26 1","pages":"8217215"},"PeriodicalIF":1.5,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142261412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genetics researchPub Date : 2024-08-30eCollection Date: 2024-01-01DOI: 10.1155/2024/3468209
Junxiao Yu, Bowen Zhao, You Yu
{"title":"Identification and Validation of Cytotoxicity-Related Features to Predict Prognostic and Immunotherapy Response in Patients with Clear Cell Renal Cell Carcinoma.","authors":"Junxiao Yu, Bowen Zhao, You Yu","doi":"10.1155/2024/3468209","DOIUrl":"10.1155/2024/3468209","url":null,"abstract":"<p><strong>Background: </strong>Clear cell renal cell carcinoma (ccRCC) is a renal cortical malignancy with a complex pathogenesis. Identifying ideal biomarkers to establish more accurate promising prognostic models is crucial for the survival of kidney cancer patients.</p><p><strong>Methods: </strong>Seurat R package was used for single-cell RNA-sequencing (scRNA-seq) data filtering, dimensionality reduction, clustering, and differentially expressed genes analysis. Gene coexpression network analysis (WGCNA) was performed to identify the cytotoxicity-related module. The independent cytotoxicity-related risk model was established by the survival R package, and Kaplan-Meier (KM) survival analysis and timeROC with area under the curve (AUC) were employed to confirm the prognosis and effectiveness of the risk model. The risk and prognosis in patients suffering from ccRCC were predicted by establishing a nomogram. A comparison of the level of immune infiltration in different risk groups and subtypes using the CIBERSORT, MCP-counter, and TIMER methods, as well as assessment of drug sensitivity to conventional chemotherapeutic agents in risk groups using the pRRophetic package, was made.</p><p><strong>Results: </strong>Eleven ccRCC subpopulations were identified by single-cell sequencing data from the GSE224630 dataset. The identified cytotoxicity-related T-cell cluster and module genes defined three cytotoxicity-related molecular subtypes. Six key genes (SOWAHB, SLC16A12, IL20RB, SLC12A8, PLG, and HHLA2) affecting prognosis risk genes were selected for developing a risk model. A nomogram containing the RiskScore and stage revealed that the RiskScore contributed the most and exhibited excellent predicted performance for prognosis in the calibration plots and decision curve analysis (DCA). Notably, high-risk patients with ccRCC demonstrate a poorer prognosis with higher immune infiltration characteristics and TIDE scores, whereas low-risk patients are more likely to benefit from immunotherapy.</p><p><strong>Conclusions: </strong>A ccRCC survival prognostic model was produced based on the cytotoxicity-related signature, which had important clinical significance and may provide guidance for ccRCC treatment.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2024 ","pages":"3468209"},"PeriodicalIF":1.4,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11379509/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142153693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genetics researchPub Date : 2024-08-17eCollection Date: 2024-01-01DOI: 10.1155/2024/9279653
Jiayan Zhang, Qinghan Jiao, Zhigang Chen
{"title":"Investigating the Prognostic and Oncogenic Roles of Membrane-Associated Ring-CH-Type Finger 9 in Colorectal Cancer.","authors":"Jiayan Zhang, Qinghan Jiao, Zhigang Chen","doi":"10.1155/2024/9279653","DOIUrl":"10.1155/2024/9279653","url":null,"abstract":"<p><p><i>Backgroundsand Aims</i>. Colorectal cancer (CRC) represents a major global health challenge, necessitating comprehensive investigations into its underlying molecular mechanisms to enhance diagnostic and therapeutic strategies. This study focuses on elucidating the oncogenic role of Membrane-Associated Ring-CH-Type Finger 9 (MARCHF9), a RING-Type E3 ubiquitin transferase, in CRC. We aim to assess MARCHF9's clinical significance, functional impact on CRC progression, and its potential as a prognostic biomarker. <i>Methods</i>. We leveraged data from the Cancer Genome Atlas (TCGA) cohort to evaluate MARCHF9 expression profiles in CRC. In vitro experiments involved siRNA-mediated MARCHF9 knockdown in COAD cell lines (SW480 and LoVo). Cell proliferation and invasion assays were conducted to investigate MARCHF9's functional relevance. Survival analyses were performed to assess its prognostic role. <i>Results</i>. Our analysis revealed significantly elevated MARCHF9 expression in CRC tissues compared to normal colorectal tissues (<i>P</i> < 0.05). High MARCHF9 expression correlated with advanced clinical stages, distant metastases, and the presence of residual tumors in CRC patients. Survival analyses demonstrated that high MARCHF9 expression predicted unfavorable overall and disease-free survival outcomes (<i>P</i> < 0.05). In vitro experiments further supported its oncogenic potential, with MARCHF9 knockdown inhibiting COAD cell proliferation and invasion. <i>Conclusions</i>. This study unveils the oncogenic role of MARCHF9 in CRC, highlighting its clinical relevance as a potential biomarker and therapeutic target. MARCHF9's association with adverse clinicopathological features and its functional impact on cancer cell behavior underscore its significance in CRC progression. Further research is essential to elucidate precise mechanisms by which MARCHF9 enhances tumorigenesis and to explore its therapeutic potential in CRC management.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2024 ","pages":"9279653"},"PeriodicalIF":1.4,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11344643/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142055388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Impact of Extracellular Matrix-Related Genes on the Tumor Microenvironment and Prognostic Indicators in Esophageal Cancer: A Comprehensive Analytical Study.","authors":"Yinghong Wu, Wenjie Hu, Zhihong Jia, Qiying Zhu, Jinghui Xu, Liang Peng, Renjie Wang","doi":"10.1155/2024/3577395","DOIUrl":"10.1155/2024/3577395","url":null,"abstract":"<p><p>Esophageal cancer is a major global health challenge with a poor prognosis. Recent studies underscore the extracellular matrix (ECM) role in cancer progression, but the full impact of ECM-related genes on patient outcomes remains unclear. Our study utilized next-generation sequencing and clinical data from esophageal cancer patients provided by The Cancer Genome Atlas, employing the R package in RStudio for computational analysis. This analysis identified significant associations between patient survival and various ECM-related genes, including IBSP, LINGO4, COL26A1, MMP12, KLK4, RTBDN, TENM1, GDF15, and RUNX1. Consequently, we developed a prognostic model to predict patient outcomes, which demonstrated clear survival differences between high-risk and low-risk patient groups. Our comprehensive review encompassed clinical correlations, biological pathways, and variations in immune response among these risk categories. We also constructed a nomogram integrating clinical information with risk assessment. Focusing on the TENM1 gene, we found it significantly impacts immune response, showing a positive correlation with T helper cells, NK cells, and CD8+ T cells, but a negative correlation with neutrophils and Th17 cells. Gene Set Enrichment Analysis revealed enhanced pathways related to pancreatic beta cells, spermatogenesis, apical junctions, and muscle formation in patients with high TENM1 expression. This research provides new insights into the role of ECM genes in esophageal cancer and informs future research directions.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2024 ","pages":"3577395"},"PeriodicalIF":1.4,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11300105/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141975558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genetics researchPub Date : 2024-04-30eCollection Date: 2024-01-01DOI: 10.1155/2024/4285171
Yao Zhou, Xingju Zheng, Zhucheng Sun, Bo Wang
{"title":"Analysis of Bladder Cancer Staging Prediction Using Deep Residual Neural Network, Radiomics, and RNA-Seq from High-Definition CT Images.","authors":"Yao Zhou, Xingju Zheng, Zhucheng Sun, Bo Wang","doi":"10.1155/2024/4285171","DOIUrl":"10.1155/2024/4285171","url":null,"abstract":"<p><p>Bladder cancer has recently seen an alarming increase in global diagnoses, ascending as a predominant cause of cancer-related mortalities. Given this pressing scenario, there is a burgeoning need to identify effective biomarkers for both the diagnosis and therapeutic guidance of bladder cancer. This study focuses on evaluating the potential of high-definition computed tomography (CT) imagery coupled with RNA-sequencing analysis to accurately predict bladder tumor stages, utilizing deep residual networks. Data for this study, including CT images and RNA-Seq datasets for 82 high-grade bladder cancer patients, were sourced from the TCIA and TCGA databases. We employed Cox and lasso regression analyses to determine radiomics and gene signatures, leading to the identification of a three-factor radiomics signature and a four-gene signature in our bladder cancer cohort. ROC curve analyses underscored the strong predictive capacities of both these signatures. Furthermore, we formulated a nomogram integrating clinical features, radiomics, and gene signatures. This nomogram's AUC scores stood at 0.870, 0.873, and 0.971 for 1-year, 3-year, and 5-year predictions, respectively. Our model, leveraging radiomics and gene signatures, presents significant promise for enhancing diagnostic precision in bladder cancer prognosis, advocating for its clinical adoption.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2024 ","pages":"4285171"},"PeriodicalIF":1.4,"publicationDate":"2024-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11074870/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140876262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}