Frontiers in Genetics最新文献

{"title":"Mechanism of action of lncRNA-NEAT1 in immune diseases.","authors":"Ruo-Xuan Zhang, Zi-Xuan Zhang, Xiang-Yu Zhao, Yi-Han Liu, Xiao-Meng Zhang, Qin Han, Xiao-Yu Wang","doi":"10.3389/fgene.2025.1501115","DOIUrl":"10.3389/fgene.2025.1501115","url":null,"abstract":"<p><p>NEAT1, a long non-coding RNA (lncRNA), is involved in assembling nuclear paraspeckles that have been found to impact various immune-related diseases, such as autoimmune diseases, allergic diseases, cancer immunity, sepsis, etc. In immune-related diseases, lncRNA-NEAT1 affects the activation, proliferation, and differentiation process of immune cells by interacting with transcription factors and miRNA (MicroRNA) to regulate an expression level in immune-related genes. It can also regulate the apoptosis and autophagy processes of immune cells by regulating inflammatory responses, interacting with apoptosis-related proteins, or regulating the expression of autophagy-related genes, thereby regulating the development of immune-related diseases. In recent years, a large number of researchers have found that the abnormal expression of lncRNA-NEAT1 has a great impact on the onset and progression of immune diseases, such as innate immunity after viral infection and the humoral immunity of T lymphocytes. In this paper, the specific mechanism of action and the function of lncRNA-NEAT1 in different immune-related diseases are sorted out and analyzed, to furnish a theoretical foundation for the study of the mechanism of action of immune cells.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1501115"},"PeriodicalIF":2.8,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11919857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.","authors":"Elizabeth Gorman, Hongzheng Dai, Yanming Feng, William James Craigen, David C Y Chen, Fan Xia, Linyan Meng, Pengfei Liu, Robert Rigobello, Arpita Neogi, Christine M Eng, Yue Wang","doi":"10.3389/fgene.2025.1488956","DOIUrl":"10.3389/fgene.2025.1488956","url":null,"abstract":"<p><strong>Introduction: </strong>The molecular diagnosis of mitochondrial disorders is complicated by phenotypic variability, genetic heterogeneity, and the complexity of mitochondrial heteroplasmy. Next-generation sequencing (NGS) of the mitochondrial genome in combination with a targeted panel of nuclear genes associated with mitochondrial disease provides the highest likelihood of obtaining a comprehensive molecular diagnosis. To assess the clinical utility of this approach, we describe the results from a retrospective review of patients having dual genome panel testing for mitochondrial disease.</p><p><strong>Methods: </strong>Dual genome panel testing by NGS was performed on a cohort of 1,509 unrelated affected individuals with suspected mitochondrial disorders. This test included 163 nuclear genes associated with mitochondrial diseases and the entire mitochondrial genome. A retrospective review was performed to evaluate diagnostic yield, disease-gene contributions, and heteroplasmy levels of pathogenic/likely pathogenic (P/LP) mitochondrial DNA (mtDNA) variants.</p><p><strong>Results: </strong>The overall diagnostic yield was 14.6%, with 7.7% from the nuclear genome and 6.9% from the mtDNA genome. P/LP variants in nuclear genes were enriched in both well-established genes (e.g., <i>POLG</i>) and more recently described genes (e.g., <i>FBXL4</i>), highlighting the importance of keeping the panel design updated.</p><p><strong>Conclusion: </strong>Variants in nuclear and mitochondrial genomes equally contributed to a 14.6% diagnostic yield in this patient cohort. Dual genome NGS testing provides a comprehensive framework for diagnosing mitochondrial disorders, offering clinical utility that can be considered as first-tier approach compared to single genome testing. Characterizing disease-causing genes, variants, and mtDNA heteroplasmy enhances understanding of mitochondrial disorders. Testing alternative tissues can further increase diagnostic yield.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1488956"},"PeriodicalIF":2.8,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11920145/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lessons from a phenotypically normal infant with uniparental isodisomy of chromosome 21: a Case Report and review.","authors":"Yuying Zhu, Ke Wu, Cuicui Jiang, Qiumin Zhu","doi":"10.3389/fgene.2025.1544565","DOIUrl":"10.3389/fgene.2025.1544565","url":null,"abstract":"<p><p>Uniparental disomy (UPD) occurs when both homologous chromosomes are inherited from a single parent. To date, the UPD of all autosomes and the X chromosome has been recorded. A few cases of UPD of chromosome 21 have been documented. At 15 weeks of gestation, a 25-year-old pregnant woman's non-invasive prenatal screening revealed a high risk of trisomy 21. Although no anomalies were detected in the fetal ultrasonography, amniocentesis was performed, and the fetal karyotype analysis was found normal. A single-nucleotide polymorphism (SNP) array revealed that the fetus had the copy-neutral region of homozygosity (ROH) in the long arm of chromosome 21. Subsequently, single whole-exome sequencing was performed due to the risk of recessive gene variants in ROH, and no homozygous like pathogenic or pathogenic variants were found on the long arm of chromosome 21. After genetic counseling, the parents decided to continue this pregnancy. At 37 weeks of gestation, a live male infant was delivered by Cesarean section. Copy number variation sequencing showed that the placental tissue was mosaic for trisomy 21. At the final follow-up evaluation, the 6-month-old boy had a normal phenotype.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1544565"},"PeriodicalIF":2.8,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11920191/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication.","authors":"Cuiting Peng, Han Chen, Fan Zhou, Hong Yang, Yutong Li, Yuezhi Keqie, Xu Zhao, He Wang, Ting Hu, Shanling Liu, Jun Ren, Xinlian Chen","doi":"10.3389/fgene.2025.1522406","DOIUrl":"10.3389/fgene.2025.1522406","url":null,"abstract":"<p><p>As the development of molecular diagnostic methods, a large number of clinically relevant or disease-related copy number variations (CNVs) could be detected, and the demand for genetic counselling and clinical treatment is also increasing. For patients with pathogenic or likely pathogenic CNVs, preimplantation genetic testing (PGT) could provide a feasible path to prevent the inheritance of the genetic disorder in the offspring. In this study, we included a couple with 1q21.1 recurrent microduplication to conduct molecular diagnosis and PGT clinical application. The optical genome mapping (OGM) successfully verified the orientation and location of the microduplication, which further proved OGM as a promising approach for chromosomal anomalies detection with high resolutions. In PGT application, linkage-analysis-based PGT and high resolution PGT-A were simultaneously conducted for the pedigree and all the embryos. The results were consistent between linkage analysis and high resolution aneuploid analysis in the targeted region. One embryo that was absent of paternal 1q21.1q21.2 duplication was selected for further transplantation. This successful clinical practice in this study shed light for future molecular diagnosis and PGT application in tandem microduplications.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1522406"},"PeriodicalIF":2.8,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11919917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of four key genes related to the diagnosis of chronic obstructive pulmonary disease using bioinformatics analysis.","authors":"Jinxia Li, Xiuming Liu, Yonghu Liu","doi":"10.3389/fgene.2025.1499996","DOIUrl":"10.3389/fgene.2025.1499996","url":null,"abstract":"<p><strong>Introduction: </strong>Chronic obstructive pulmonary disease (COPD) is projected to become the third leading cause of death worldwide. Despite extensive research over the past few decades, effective treatments remain elusive, making disease prevention and control a global challenge.</p><p><strong>Methods: </strong>This study aimed to identify diagnostic key genes for COPD. We utilized the Gene Expression Omnibus database to obtain gene expression data specific to COPD. Differentially expressed genes (DEGs) were identified and analyzed through Gene Ontology, Kyoto Encyclopedia of Genes and Genomes, and Gene Set Enrichment Analysis. Integrated weighted gene co-expression network analysis was employed to examine related gene modules. To pinpoint key genes, we used SVM-RFE, RF, and LASSO.</p><p><strong>Results: </strong>A total of 1782 DEGs were discovered, many of which were enriched in various biological pathways and activities. Four key genes-<i>MRC1</i>, <i>BCL2A1</i>, <i>GYPC</i>, and <i>SLC2A3</i>-were identified. We observed a significant difference in immune infiltration between COPD and normal groups, indicating potential interactions between immune cells and these genes. The identified key genes were further validated using external datasets.</p><p><strong>Discussion: </strong>Our findings suggest that <i>MRC1</i>, <i>BCL2A1</i>, <i>GYPC</i>, and <i>SLC2A3</i> are potential biomarkers for COPD. Targeting these diagnostic genes with specific drugs may potentially offer new avenues for COPD management; however, this hypothesis remains preliminary and requires further investigation, as the study does not directly assess therapeutic interventions.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1499996"},"PeriodicalIF":2.8,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11919834/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel <i>HMBS</i> gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings.","authors":"Wentao Dong, Bingliang Zeng, Xiaolian Wang, Rui Zhang, Pei Huang, Bing Fan, Min Yuan, Zicong Li","doi":"10.3389/fgene.2025.1551832","DOIUrl":"10.3389/fgene.2025.1551832","url":null,"abstract":"<p><strong>Background: </strong>Acute intermittent porphyria (AIP) is a rare metabolic disorder resulting from defects in the heme biosynthesis pathway, often presenting with non-specific symptoms such as abdominal pain, seizures, and neuropsychiatric disturbances. Diagnosis is challenging due to the overlap of symptoms with other conditions, and early recognition is critical for effective treatment.</p><p><strong>Case presentation: </strong>A 24-year-old female presented with a 6-day history of persistent lower abdominal pain and generalized tonic-clonic seizures, following the consumption of seafood. Neuroimaging revealed white matter hyperintensities, and urine analysis showed dark red discoloration, suggestive of porphyria. Genetic testing confirmed a novel c.499-1_514del mutation in the <i>HMBS</i> gene, diagnosing AIP. The patient was treated with intravenous glucose, heme arginate, and anticonvulsants. Symptom resolution was noted within days, and follow-up MRI showed significant improvement.</p><p><strong>Conclusion: </strong>This case underscores the importance of early diagnosis and management in AIP. Genetic testing plays a crucial role in confirming the diagnosis, especially in atypical cases. Timely intervention with glucose and heme arginate, combined with supportive care, led to rapid symptom resolution, reinforcing the reversibility of AIP-associated neuroimaging changes. Clinicians should maintain a high index of suspicion for AIP in patients with unexplained abdominal and neurological symptoms to prevent long-term complications.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1551832"},"PeriodicalIF":2.8,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11919866/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of a novel RNA-protein interaction assay to develop inhibitors blocking RNA-binding of the HuR protein.","authors":"Larissa Filcenkova, Annika Reisbitzer, Benjamin Philipp Joseph, Verena Weber, Paolo Carloni, Giulia Rossetti, Sybille Krauß","doi":"10.3389/fgene.2025.1549304","DOIUrl":"10.3389/fgene.2025.1549304","url":null,"abstract":"<p><p>RNA-protein interactions play an important regulatory role in several biological processes. For example, the RNA-binding protein HuR (human antigen R) binds to its target mRNAs and regulates their translation, stability, and subcellular localization. HuR is involved in the pathogenic processes of various diseases. Thus, small molecules blocking RNA-binding of HuR may be useful in a variety of diseases. Previously, we identified STK018404 as a small molecule targeting the HuR-RNA interaction. Based on this study we identified optimized compounds by exploiting combined structure-based and ligand-based computational approaches. To test a series of these compounds, we developed a novel readout system for the HuR-RNA interaction. Traditional methods to detect RNA-protein interaction come with some disadvantages: they require significant reagent optimization and may be difficult to optimize for weakly expressed RNA molecules. The readout often requires amplification. Thus, these methods are not well suited for quantitative analysis of RNA-protein interactions. To achieve an easy-to-perform, rapid, and robust detection of RNA-protein binding, we applied a split luciferase reporter system, to detect the interaction between HuR and its target RNA. We expressed one luciferase fragment as a fusion protein with HuR. The second luciferase fragment was Streptavidin-coated and coupled to a biotinylated RNA-oligo comprising an AU-rich HuR-binding element. The binding between HuR and its target RNA-oligo then allowed reconstitution of the functional luciferase that was detectable by luminescence. Using the split luciferase reporter system, we present here a series of optimized compounds that we developed.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1549304"},"PeriodicalIF":2.8,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network.","authors":"Yuanyuan Luo, Yihan Wang, Lin Liu, Feiming Huang, Shiheng Lu, Yan Yan","doi":"10.3389/fgene.2025.1533567","DOIUrl":"10.3389/fgene.2025.1533567","url":null,"abstract":"<p><strong>Introduction: </strong>Pathological myopia, a severe form of myopia, is characterized by an extreme elongation of the eyeball, leading to various vision-threatening complications. It is broadly classified into two primary types: high myopia, which primarily involves an excessive axial length of the eye with potential for reversible vision loss, and degenerative myopia, associated with progressive and irreversible retinal damage.</p><p><strong>Methods: </strong>Leveraging data from DisGeNET, reporting 184 genes linked to high myopia and 39 genes associated with degenerative myopia, we employed the GenePlexus methodology in conjunction with screening tests to further explore the genetic landscape of pathological myopia.</p><p><strong>Results and discussion: </strong>Our comprehensive analysis resulted in the discovery of 21 new genes associated with degenerative myopia and 133 genes linked to high myopia with significant confidence. Among these findings, genes such as ADCY4, a regulator of the cAMP pathway, were functionally linked to high myopia, while THBS1, involved in collagen degradation, was closely associated with the pathophysiology of degenerative myopia. These previously unreported genes play crucial roles in the underlying mechanisms of pathological myopia, thereby emphasizing the complexity and multifactorial nature of this condition. The importance of our study resides in the uncovering of new genetic associations with pathological myopia, the provision of potential biomarkers for early screening, and the identification of therapeutic targets.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1533567"},"PeriodicalIF":2.8,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11919901/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-omics analysis reveals Jianpi formula-derived bioactive peptide-YG-22 potentially inhibited colorectal cancer via regulating epigenetic reprogram and signal pathway regulation.","authors":"Jun Wang, Lijuan Zhu, Yuanyuan Li, Mingming Ding, Xiyu Wang, Bo Xiong, Hongyu Chen, Lisheng Chang, Wenli Chen, Bo Han, Jun Lu, Qin Shi","doi":"10.3389/fgene.2025.1560172","DOIUrl":"10.3389/fgene.2025.1560172","url":null,"abstract":"<p><strong>Introduction: </strong>Colorectal cancer (CRC) is a prevalent malignancy worldwide, often treated with chemotherapy despite its limitations, including adverse effects and resistance. The traditional Chinese medicine (TCM) Jianpi formula has been demonstrated to improve efficacy of chemotherapy, however the underlying mechanisms still need to be explored. In this study, we aim to screen bioactive peptides derived from the blood of CRC patients through peptidomics and explore the molecular mechanisms of the candidate peptides in the inhibition of CRC using multi-omics analysis.</p><p><strong>Methods: </strong>In this study, we recruited 10 patients with CRC who had received either adjuvant chemotherapy or adjuvant chemotherapy combined with the traditional Chinese medicine Jianpi formula after surgery. We collected plasma samples at 2 cycles of adjuvant therapy and performed peptidomic analysis on these samples. The differentially bioactive peptides were screened using a model of HCT116 cells <i>in vitro</i>. To investigate the molecular mechanism underlying YG-22's inhibition of the colorectal cancer cell line HCT116, we performed a multi-omics analysis, including transcriptome, metabolome, chromatin accessibility, H3K4Me3 histone methylation, and NF-κB binding site analyses.</p><p><strong>Results: </strong>Differential peptides were identified in plasma samples from patients treated with adjuvant chemotherapy combined with the Jianpi formula. Among these peptides, YG-22 exhibited the strongest cytotoxic effect on HCT116 cells, reducing cell viability in a dose- and time-dependent manner. Transcriptome analysis highlighted that YG-22 treatment in CRC modulates key pathways associated with lysosome-mediated degradation and apoptosis. Metabolomic profiling further indicated disruptions in tumor-supportive metabolic pathways. Chromatin accessibility and histone modification analyses suggested that YG-22 induces epigenetic reprogramming. Additionally, treatment with YG-22 resulted in significant changes in NF-κB binding and pathway activation.</p><p><strong>Conclusions: </strong>This study demonstrates that combining chemotherapy with TCM Jianpi formula enriches the molecular landscape and generates bioactive peptides with strong antitumor activity. Furthermore, this study also lays the foundation for further development of peptide-based therapies and highlights the value of combining traditional and modern therapeutic strategies for CRC management.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1560172"},"PeriodicalIF":2.8,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11919836/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Study on the mechanism of KIF18B affecting the malignant progression of glioblastoma cells.","authors":"Xiangyue Su, Liji Huang, Wei Ma, Rong Wang, Xiangjian Zeng, Gangliang Wei, Suli Mai, Min Yang, Shifu Tang","doi":"10.3389/fgene.2025.1540342","DOIUrl":"10.3389/fgene.2025.1540342","url":null,"abstract":"<p><strong>Background: </strong>Member of the driver protein family 18B (KIF18B) is a potential prognostic marker and is highly expressed in a variety of cancers. However, its function in glioblastoma (GBM) remains unclear.</p><p><strong>Methods: </strong>The expression data of KIF18B were obtained by accessing TCGA, CGGA and GEPIA databases, and verified by Western blot assay and immunohistochemistry. Glioma RNA sequencing data and clinical information were downloaded from TCGA and CGGA databases, and Kaplan-plotter survival analysis and Multivariable COX regression analysis were performed to plot ROC survival curves at 1, 3 and 5 years cBioPortal and MethSurv were used to carefully examine the prognostic value of KIF18B methylation. CBioPortal database and UALCAN database were used to obtain KIF18B co-expressed genes for GO and KEGG enrichment analysis, and gene set enrichment analysis (GSEA) software was used to explore the signaling pathway of KIF18B regulation of GBM. Finally, the correlation between KIF18B and GBM infiltration was studied by using TIMER database and TCGA dataset.</p><p><strong>Results: </strong>KIF18B was highly expressed in various cancers including GBM, and was positively correlated with glioma grade and negatively correlated with prognosis. Multivariable COX regression analysis and ROC curve showed that KIF18B was one of the independent risk factors for glioma prognosis. KIF18B methylation was negatively correlated with KIF18B expression, and the overall survival rate of patients with KIF18B hypomethylation was lower than that of patients with KIF18B hypermethylation. A total of 124 co-expressed genes were selected from the database. KEGG pathway analysis showed that KIF18B was mainly involved in the malignant progression of glioma through P53 and other signaling pathways. GSEA analysis showed that the high expression group of KIF18B was mainly enriched in E2F, G2M and other signaling pathways. The results of immunoassay showed that the expression of KIF18B was correlated with immune infiltration of tumor microenvironment.</p><p><strong>Conclusion: </strong>KIF18B is a key factor affecting the prognosis of GBM patients, and its targeting may provide a new therapeutic method for GBM patients.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1540342"},"PeriodicalIF":2.8,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11919893/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}