Frontiers in Genetics最新文献

{"title":"A rare variation of ERCC8 gene cause Cockayne syndrome in a Chinese family.","authors":"Fengjuan Ding, Fei Hou, Bowen Zhao, Hua Jin","doi":"10.3389/fgene.2025.1531832","DOIUrl":"10.3389/fgene.2025.1531832","url":null,"abstract":"<p><strong>Background: </strong>Cockayne syndrome (CS) is a multisystem degenerative disorder in which dysplasia and microcephaly represent the primary criteria for diagnosis. we present the cases of two patients who exhibited distinctive facial features and a range of other clinical manifestations, including growth failure, developmental delay, microcephaly, dental anomalies, and unstable gait.</p><p><strong>Methods: </strong>Clinical information pertaining to the patient's family was collated and the Pedigree chart was drawn. Two milliliters of peripheral blood were drawn from each of the two patients (III1and III3) and their parents, The causative genes were identified by Medical exome sequencing. Furthermore, the pregnant women underwent amniotic fluid prenatal diagnosis at mid-pregnancy (III5).</p><p><strong>Results: </strong>Medical exome sequencing revealed that both patients had a homozygous deletion of Exon4 in the ERCC8 gene and that both parents were carriers. Prenatal diagnosis by amniotic fluid confirmed that the fetus (III5) did not carry the variant.</p><p><strong>Conclusion: </strong>This clarified the diagnosis at the genetic level, deepened our understanding of the disease, and facilitated the ability to provide accurate genetic counseling and prenatal diagnosis, with the goal of reducing the number of new affected individuals in the family.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1531832"},"PeriodicalIF":2.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11936978/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718587","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 and validation of key biomarkers associated with immune and oxidative stress for preeclampsia by WGCNA and machine learning.","authors":"Tiantian Yu, Guiying Wang, Xia Xu, Jianying Yan","doi":"10.3389/fgene.2025.1500061","DOIUrl":"10.3389/fgene.2025.1500061","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Preeclampsia (PE), a major obstetric disorder marked by dysfunction in both placental and maternal vascular systems, continues to pose critical challenges in global maternal healthcare. This multisystem pregnancy complication contributes significantly to adverse perinatal outcomes and remains a leading cause of pregnancy-related morbidity worldwide. However, the available treatment options at present remain restricted. Our investigation employs an integrative bioinformatics approach to elucidate critical molecular signatures linked to the interplay between immunological dysregulation and oxidative stress mechanisms in PE pathogenesis.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;In this study, we sourced the dataset from the GEO database with the aim of pinpointing differentially expressed genes (DEGs) between PE samples and control samples. Genes associated with oxidative stress were procured from the Genecards database. Next, we employed a comprehensive approach. This involved integrating WGCNA, GO and KEGG pathway analyses, constructing PPI networks, applying machine learning algorithms, performing gene GSEA, and conducting immune infiltration analysis to identify the key hub genes related to oxidative stress. Diagnostic potential of candidate biomarkers was quantitatively assessed through ROC curve modeling. Additionally, we constructed a miRNA - gene regulatory network for the identified diagnostic genes and predicted potential candidate drugs. In the final step, we validated the significant hub gene using independent external datasets, the hypoxia model of the HTR-8/SVneo cell line, and human placental tissue samples.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;At last, leptin (LEP) was identified as a core gene through screening and was found to be upregulated. The results of quantitative real-time polymerase chain reaction (qRT -PCR) and immunohistochemistry validation were consistent with those obtained from the datasets. KEGG analysis revealed that LEP was significantly enriched in \"allograft rejection,\" \"antigen processing,\" \"ECM receptor interaction\" and \"graft &lt;i&gt;versus&lt;/i&gt; host disease.\" GO analysis revealed that LEP was involved in biological processes such as \"antigen processing and presentation,\" \"peptide antigen assembly with MHC protein complex,\" \"complex of collagen trimers,\" \"MHC class II protein complex\" and \"mitochondrial protein containing complex.\" Moreover, immune cell analysis indicated that T follicular helper cells, plasmacytoid dendritic cells, neutrophils, and activated dendritic cells were positively correlated with LEP expression, whereas γδT cells, eosinophils, and central memory CD4&lt;sup&gt;+&lt;/sup&gt; T cells showed a negative correlation. These findings suggest that LEP influences the immune microenvironment of PE through its interaction with arious immune cells. In addition, 28 miRNAs and 15 drugs were predicted to target LEP. Finally, the overexpression of LEP was verified using independent external datasets,","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1500061"},"PeriodicalIF":2.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11949101/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729733","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":"Genetic determinism of cortisol levels in pig.","authors":"Elena Terenina, Nathalie Iannuccelli, Yvon Billon, Katia Fève, Laure Gress, Darya Bazovkina, Pierre Mormede, Catherine Larzul","doi":"10.3389/fgene.2025.1461385","DOIUrl":"10.3389/fgene.2025.1461385","url":null,"abstract":"<p><p>In facing the challenge of sustainability, animal breeding provides the option to improve animal robustness. In the search for new selection criteria related to robustness, the hypothalamic-pituitary-adrenocortical (HPA) axis is studied as a major neuroendocrine system involved in metabolic regulations and adaptive responses. Indeed, HPA axis activity is strongly influenced by genetic factors acting at several levels of the axis. The adrenocorticotropic hormone (ACTH) stimulation test has long been used to analyze interindividual and genetic differences in HPA axis activity in several species, including pigs. To uncover the genetic determinism of HPA activity and its influence on functional traits and robustness, a divergent selection experiment was carried out for three generations in a Large White pig population based on plasma cortisol levels measured one hour after injection of ACTH. In the present study the response to selection was very strong (confirming our previous studies), with a heritability value of cortisol level after ACTH injections reaching 0.64 (±0.03). The difference between the two divergent lines was around five genetic standard deviations after three selection steps. A genome-wide association study pointed out the importance of the glucocorticoid receptor gene (<i>NR3C1</i>) in this response. The measurement of plasma corticosteroid-binding globulin (CBG) binding capacity excluded any significant role of CBG in this selection process. The phenotypic effect of selection on body weight and growth rate was modest and/or inconsistent across generations. The HPA axis, a major neuroendocrine system involved in adaptation processes is highly heritable and responsive to genetic selection. The present experiment confirms the importance of glucocorticoid receptor polymorphism in genetic variation of HPA axis activity-in addition to the previously demonstrated role of CBG gene polymorphism. Further studies will explore the effect of this divergent selection on production and robustness.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1461385"},"PeriodicalIF":2.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11936974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718590","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":"Prenatal diagnosis of intellectual disability, autosomal dominant 29 with a nonsense pathogenic variant in <i>SETBP1</i>: a case report and literature review.","authors":"Zhuo Wei, Liying Yao, Lei Zhang, Shanshan Li, Meiyi Xu, Dan Wu, Wen Li, Ying Chang","doi":"10.3389/fgene.2025.1463485","DOIUrl":"10.3389/fgene.2025.1463485","url":null,"abstract":"<p><strong>Introduction: </strong>Intellectual disability, autosomal dominant 29 is a rare disorder resulting from pathogenic variants of <i>SETBP1</i> gene with no specific mutation hotspot identified. Systematic descriptions of new cases are crucial for understanding the genotypic and phenotypic spectrums of the disease.</p><p><strong>Case presentation: </strong>A pregnant woman was referred to the prenatal diagnosis center at our hospital because she has an intellectual disability and has previously given birth to a child with intellectual disabilities. Karyotype, CNV-seq and whole-exome sequencing (WES) were employed to investigate the potential genetic issues in the family. The <i>SETBP1</i> NM_015559.2: c.2425C>T (p.Gln809*) nonsense variant was found in the proband and mother, who were diagnosed with MRD29. Amniocentesis and genetic analysis (CNV-seq and sanger sequencing for mutation site) were performed as fetal cortical abnormalities and subependymal cystic area presented by ultrasonic examination at 25 + 5 gestational weeks. The genetic analysis confirmed the <i>SETBP1</i> c.2425C>T (p.Gln809*) nonsense mutation in the fetus. The parents terminated the pregnancy at 30 + 4 gestational weeks.</p><p><strong>Conclusion: </strong>The <i>SETBP1</i> NM_015559.2: c.2425C>T (p.Gln809*) nonsense variant is pathogenic and <i>SETBP1</i> haploinsufficiency may be associated with fatal cortical abnormalities. More prenatal clinical data is helpful for a better productive decision making and patient management.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1463485"},"PeriodicalIF":2.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11936921/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718667","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":"Retrospective chart review of inherited and idiopathic dystonia.","authors":"A Alakkas, H Shinawi, J A Bajwa, O Alsinaidi, A Al-Hashim","doi":"10.3389/fgene.2025.1504744","DOIUrl":"10.3389/fgene.2025.1504744","url":null,"abstract":"<p><p>Dystonia prevalence and presentation varies both ethnically and geographically. There is a paucity of data on the clinical presentation of dystonia patients in Saudi Arabia and among Arabs. In this study we provide the largest description of dystonia patients in Saudi Arabia. In our population, majority, 42% of all patients with dystonia had an inherited dystonia, while 34.8% had idiopathic dystonia. In addition, we found 3 patients with homozygous GCH1 variants who displayed the classic phenotype of dopa-responsive dystonia. Two had Variant of Uncertain Significance that has been recently reclassified as likely pathogenic, and another novel homozygous Asp119Asn variant, not previously reported in ClinVar. It is the hope that this paper would be the first step for future prospective studies.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1504744"},"PeriodicalIF":2.8,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11933036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709551","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":"Editorial: Understanding molecular mechanisms to facilitate the development of biomarkers for therapeutic intervention in gastrointestinal diseases and sepsis.","authors":"Dipak Kumar Sahoo, Romy M Heilmann, Ashish Patel","doi":"10.3389/fgene.2025.1581299","DOIUrl":"10.3389/fgene.2025.1581299","url":null,"abstract":"","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1581299"},"PeriodicalIF":2.8,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11933061/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709533","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 <i>de novo TNNI3K</i> variant aggravates the pathogenicity of <i>DMD</i>-associated early-onset cardiomyopathy: a case report.","authors":"Di Qie, Yang Zhai, Fan Yang, Yifei Li, Rong Xu","doi":"10.3389/fgene.2025.1525941","DOIUrl":"10.3389/fgene.2025.1525941","url":null,"abstract":"<p><strong>Background: </strong>Dystrophin is a <i>DMD</i> coding protein that serves as a connector maintaining the structural formation and functional hemostasis of myofilaments, which regulate the contraction of cardiomyocytes. However, early-onset heart failure or cardiomyopathy is closely associated with adverse clinical outcomes in Duchenne muscular dystrophy (DMD)-affected patients. Pathogenicity screening and identification of the potential combined variants are thus critical for the management of such patients. Herein, we report a rare case of a patient with early-onset DMD attributed to a compound genetic variant in the <i>DMD</i> and <i>TNNI3K</i> genes.</p><p><strong>Case presentation: </strong>The proband, a 15-month-old male patient, presented with severe heart failure, enlarged ventricles, and diffuse fibrosis. Whole-exome sequencing was used to identify a compound missense variant as c.1540G>T (p.V514L) of the <i>DMD</i> gene and c.1633G>T of the <i>TNNI3K</i> gene, resulting in disease. The protein structures of the mutant dystrophin and TNNI3K were built using AlphaFold3. The amino acid residues around site 514 had changed in DMD p.V514L, and the altered surrounding structures resulted in protein dysfunction. Furthermore, the amino acid residues around site 545 had changed in TNNI3K p.G545C, causing significant alterations to the hydrogen bonding. As both of these mutations contribute to regulating the myofilaments, potential interactions are suspected. Then, the binding structure was established using AlphaFold3, and the structural changes were identified based on the compound variants.</p><p><strong>Conclusion: </strong>We present a rare case of a compound genetic variant that induces severe and very-early-onset heart failure in DMD patients. The compound variant attenuates the interactions between <i>DMD</i> and <i>TNNI3K</i>, leading to functional collapse of the myofilaments. This finding emphasizes the importance of comprehensive genetic analysis in DMD patients. Identification of additional variants can significantly aggravate the pathological process and disease prognosis, and such patients always require swift and careful clinical management to obtain desirable outcomes.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1525941"},"PeriodicalIF":2.8,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11933015/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709546","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":"Bibliometric analysis of case-control studies on the association between HLA alleles and multiple sclerosis in adults.","authors":"Enola Maer, Marjorie Maya Hubacher, Livia Livint Popa, Dana Marieta Fodor, Razvan Mircea Chereches, Dafin F Muresanu, Vitalie Vacaras, Maria Chiriac, Horea Vladi Matei, Nicu Catalin Draghici, Adrian Florea","doi":"10.3389/fgene.2025.1524360","DOIUrl":"10.3389/fgene.2025.1524360","url":null,"abstract":"<p><strong>Background: </strong>Multiple sclerosis (MS) is a complex autoimmune disease that affects the central nervous system (CNS) with genetic and environmental factors playing a significant role in its development and progression. One of the most important genetic factors associated with MS is the HLA gene complex. The relationship between HLA and MS has been the subject of numerous studies, but no bibliometric analysis of this research has been reported to date. Therefore, this study aimed to provide a comprehensive overview of the publication output, citation impact, collaboration patterns, and research topics related to HLA and MS.</p><p><strong>Methods: </strong>A bibliometric analysis of 488 studies published between 1988 and 2023 was conducted using RStudio, Tableau and VOSviewer software.</p><p><strong>Results: </strong>The results indicated an increasing trend in the number of publications and citations over time, with the highest productivity and impact coming from researchers in the United States, Italy and Sweden. The analysis also revealed collaboration networks among researchers and institutions, with the most common research topics being the association of HLA alleles with MS susceptibility, disease course, and treatment response. This study's limitations stem from the inherent biases associated with bibliometric analysis, including database and coverage bias, citation bias, and biases related to accessibility and open access. Additionally, the exclusion of non-English language articles represents a further limitation.</p><p><strong>Conclusion: </strong>Overall, this bibliometric analysis provides valuable insight into the research landscape of HLA and MS, highlighting the areas that have received the most attention and identifying potential avenues for future research.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1524360"},"PeriodicalIF":2.8,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11933045/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709528","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 rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.","authors":"Xuejun Ouyang, Yu Zhang, Tian Yu, Qian Zhang, Lei Xu, Victor Wei Zhang, Bin Wang","doi":"10.3389/fgene.2025.1526077","DOIUrl":"10.3389/fgene.2025.1526077","url":null,"abstract":"<p><strong>Purpose: </strong>This study evaluates the efficacy of rapid clinical exome sequencing (CES) and mitochondrial DNA (mtDNA) sequencing for diagnosing genetic disorders in critically ill pediatric patients.</p><p><strong>Methods: </strong>A multi-centre investigation was conducted, enrolling critically ill pediatric patients suspected of having genetic disorders from March 2019 to December 2020. Peripheral blood samples from patients and their parents were analyzed using CES (proband-parent) and mtDNA sequencing (proband-mother) based on Next-Generation Sequencing (NGS) technology.</p><p><strong>Results: </strong>The study included 44 pediatric patients (24 males, 20 females) with a median age of 27 days. The median turnaround time for genetic tests was 9.5 days. Genetic disorders were diagnosed in 25 patients (56.8%): 5 with chromosome microduplication/deletion syndromes (11.3%), 1 with UPD-related disease (2.3%), and 19 with monogenic diseases (43.2%). <i>De novo</i> variants were identified in nine patients (36.0%). A neonate was diagnosed with two genetic disorders due to a homozygous <i>SLC25A20</i> variant and an <i>MT-TL1</i> gene variation.</p><p><strong>Conclusion: </strong>Rapid genetic diagnosis is crucial for critically ill pediatric patients with suspected genetic disorders. CES and mtDNA sequencing offer precise and timely results, guiding treatment and reducing mortality and disability, making them suitable primary diagnostic tools.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1526077"},"PeriodicalIF":2.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11931113/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700357","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 and validation of prognostic biomarkers related to tumor immune invasion in pancreatic cancer.","authors":"Minxue Chen, Xinyuan Zhou, Yong Fan, Chen Wang","doi":"10.3389/fgene.2025.1556544","DOIUrl":"10.3389/fgene.2025.1556544","url":null,"abstract":"<p><strong>Background: </strong>The diagnosis and treatment of pancreatic adenocarcinoma (PAAD) remain clinically challenging, and new molecular markers for prognostic assessment and targeted therapy are urgently needed. The tumor microenvironment (TME) and immune invasion play an important role in pancreatic cancer development and progression. Therefore, immunotherapeutic strategies based on the TME and immune invasion may have important clinical value.</p><p><strong>Methods: </strong>In this study, we extracted transcriptome and clinicopathological data for 179 PAAD samples from the TCGA database and evaluated the immune composition, stromal composition, and infiltrating immune cell landscape in the tumor samples. Then, we identified relevant differentially expressed genes (DEGs) and performed functional annotation and prognostic correlation analysis to identify prognostic biomarkers for pancreatic cancer, the correlation between biomarkers and tumor immune invasion was analyzed to reveal the molecular immune mechanism of pancreatic cancer. Finally, GEO databases (GES71729), GEPIA, TISIDB, TIMER databases and RT-PCR were used for further analysis.</p><p><strong>Results: </strong>CXCL10 and CXCL11 were highly expressed in pancreatic cancer and associated with poor prognosis of patients through cell adhesion molecules chemokine signaling, cytokine-cytokine receptor interaction, natural killer cell-mediated cytotoxicity, and Toll-like receptor signaling pathways. Finally, the correlation between CXCL10 and CXCL11 and tumor immune invasion was analyzed. The results confirmed that the expression levels of CXCL10 and CXCL11 were positively correlated with the contents of CD8⁺ T cells. Activated memory CD4⁺ T cells, M1 macrophages and resting mast cells. The levels of CXCL10 and CXCL11 were related to but negatively correlated with the contents of memory B cells, Tregs and M0 macrophages.</p><p><strong>Conclusion: </strong>Our study demonstrates that CXCL10 and CXCL11 are novel biomarkers of TME and immune cell infiltration in pancreatic cancer by affecting the distribution of immune cells. CXCL10 and CXCL11 may be new targets for molecular targeted therapy and immunotherapy of pancreatic cancer.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1556544"},"PeriodicalIF":2.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11931078/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699646","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}