Biochemistry and Biophysics Reports最新文献

{"title":"Screening and validation of diagnostic markers for keloids via bioinformatics analysis.","authors":"Ze Wang, Bo Hu, Wenfei Li, Tengxiao Ma, Lei Li","doi":"10.1016/j.bbrep.2025.102219","DOIUrl":"10.1016/j.bbrep.2025.102219","url":null,"abstract":"<p><strong>Background: </strong>Keloid (KD) disease is a skin lesions caused by abnormal wound healing that involve complex cellular and molecular mechanisms. The aim of this study was to screen diagnostic markers of KD via bioinformatics methods and evaluate their clinical application value.</p><p><strong>Methods: </strong>The GSE44270, GSE145725, GSE7890 and GSE83286 datasets were analyzed in combination with difference analysis and weighted gene coexpression network analysis (WGCNA) and machine learning algorithms, candidate genes related to KD were screened and verified via receiver operating characteristic (ROC) curves and external datasets. KD samples were classified by consistent clustering, and the infiltration of immune cells was investigated. Simultaneously, a diagnostic biomarker-related ceRNA network was constructed. Drug small molecules and compounds were predicted online, and molecular docking was performed. Finally, RT‒qPCR and WB were used to verify the expression of the markers.</p><p><strong>Results: </strong>In this study, two upregulated genes, SMURF2 and CCDC80, which are significantly associated with a variety of immune cells, were screened. KD was divided into the C1 and C2 subtypes, SMURF2 was highly expressed in C1, and CCDC80 was highly expressed in C2. Drug prediction and molecular docking analysis suggest that bisphenol A may have a potential effect on KD therapy. RT‒qPCR and WB revealed that the mRNA and protein expression levels of SMURF2 and CCDC80 in KD samples were significantly increased.</p><p><strong>Conclusion: </strong>Our study identified two genes that may be used as diagnostic markers of KD, providing new perspectives and potential molecular targets for the study of the molecular mechanisms and clinical diagnosis of KD.</p>","PeriodicalId":8771,"journal":{"name":"Biochemistry and Biophysics Reports","volume":"43 ","pages":"102219"},"PeriodicalIF":2.2,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12420520/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145039015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>miR-628-3p</i> exerts a carcinogenic effect on hepatocellular carcinoma.","authors":"Lele Liu, Ziyi Cheng, Dina Liu, Mingang Pan, Muyu Luo, Yunmeng Chen, Jie Xia","doi":"10.1016/j.bbrep.2025.102186","DOIUrl":"10.1016/j.bbrep.2025.102186","url":null,"abstract":"<p><p>Hepatocellular carcinoma (HCC) is associated with the highest mortality rate among various types of liver tumors. <i>miR-628-3p,</i> a microRNA, has been identified as a tumor suppressor in multiple cancer types, yet its function in hepatocellular carcinoma has not been investigated. This study aimed to examine the effect of <i>miR-628-3p</i> on the occurrence and development of HCC and its specific molecular mechanism. Here, we evaluated the effect of <i>miR-628-3p</i> on HCC proliferation by using <i>in vitro</i> proliferation assays and a xenograft tumor model. Flow cytometry was used to monitor the cell cycle and apoptosis of HCC cells. Reverse Transcription-Quantitative Polymerase Chain Reaction (RT-qPCR) and Western blot (WB) were used to determine the expression of each gene. Our study showed that <i>miR-628-3p</i> levels decrease in HCC, and its overexpression can enhance cell proliferation and cell cycle progression while suppressing apoptosis. Examination of the gene expression profiles of MHCC9H cells with <i>miR-628-3p</i> overexpression shows that cancer-promoting pathways like hypoxia and Notch signaling are upregulated. Meanwhile, <i>miR-628-3p</i> overexpression inhibits tumor suppressor pathways such as apoptosis and p53 signaling. <i>miR-628-3p</i> affects the cell cycle and apoptosis of HCC through the p53 pathway. Moreover, the expression of <i>miR-628-3p</i> is regulated by p53 to some extent. Our findings suggest that <i>miR-628-3p</i> has a tumor-promoting effect on HCC and that <i>miR-628-3p</i> inhibitors may be a new therapeutic approach for HCC.</p>","PeriodicalId":8771,"journal":{"name":"Biochemistry and Biophysics Reports","volume":"43 ","pages":"102186"},"PeriodicalIF":2.2,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12420519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145038969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ubiquitination regulates allergic asthma by affecting immune cells and immune responses","authors":"Zheng Jin ,&nbsp;Zhenhua Zhu ,&nbsp;Xiaopeng Jing ,&nbsp;Ji Zeng ,&nbsp;Dongmei Yan (Department of Immunology, College of Basic Medical Sciences, Jilin University, Changchun City, Jilin Province, China.)","doi":"10.1016/j.bbrep.2025.102212","DOIUrl":"10.1016/j.bbrep.2025.102212","url":null,"abstract":"<div><div>Allergic asthma, known for its airway hyperresponsiveness and remodeling, is a prevalent chronic respiratory disease. Recent investigations have emphasized the crucial role of ubiquitination, a post-translational modification, in the pathogenesis of allergic asthma. Ubiquitination involves the addition of ubiquitin molecules to substrates, caused their degradation or alteration in activity. Ubiquitination affects various aspects of immune cell function, such as activation of Th2 cells, B cells, and antigen-presenting cells, which are vital to allergic asthma.</div><div>In this review, we explore the role of ubiquitination in modulating immune responses during allergic asthma. We discuss the interplay between ubiquitin ligases, their substrates, and the impact on immune cell function, including Th2 differentiation and Th2 cytokines production. Our study also considers the potential therapeutic outcomes of targeting ubiquitination in asthma management. By understanding the complex interplay between ubiquitination, immune cells and immune responses, we can identify new molecules for treating allergic asthma, potentially leading to more effective therapies that modulate immune responses and ameliorate disease symptoms.</div></div>","PeriodicalId":8771,"journal":{"name":"Biochemistry and Biophysics Reports","volume":"43 ","pages":"Article 102212"},"PeriodicalIF":2.2,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144863728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Key regulatory genes in sugar beet's defense against curly top virus identified by network analysis and qRT-PCR.","authors":"Zeinab Porameri, Abozar Ghorbani, Zahra Mirsoleymani, Marzieh Karimi, Mahsa Rostami, Seyed Ali Hemmati","doi":"10.1016/j.bbrep.2025.102214","DOIUrl":"10.1016/j.bbrep.2025.102214","url":null,"abstract":"<p><p>Curly top disease, caused by Beet Curly Top Virus (BCTV), is a major threat to sugar beet (<i>Beta vulgaris</i>), resulting in significant yield losses. This study integrates RNA sequencing, gene network analysis, and experimental validation to uncover key regulatory genes involved in plant responses to viral infection. Network analysis identified nine central hub genes associated with fatty acid metabolism, stress adaptation, and transcriptional regulation. Meanwhile, functional enrichment analysis highlighted chloroplast-associated immune signaling, oxidative stress modulation, and secondary metabolite biosynthesis as critical defense mechanisms. Due to the genomic similarities between BCTV and Beet Curly Top Iran Virus (BCTIV), BCTIV was selected to investigate whether conserved molecular responses exist in sugar beet infected by these phylogenetically related viruses. The upregulation of hub genes - Su1 (EMB3147), Su2 (FRS5), and Su3 (LACS9)- under BCTIV infection was found to mirror patterns observed in BCTV-infected plants, suggesting convergent defense mechanisms against both viruses. A strong correlation (R² = 0.995) between qRT-PCR and RNA-Seq data further confirmed that the close genomic proximity of BCTIV to BCTV results in analogous transcriptional reprogramming in the host, supporting the broader relevance of these findings for curly top disease management.</p>","PeriodicalId":8771,"journal":{"name":"Biochemistry and Biophysics Reports","volume":"43 ","pages":"102214"},"PeriodicalIF":2.2,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12395982/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144940716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A study on the mechanism of Bushen Kaiqiao Formula in modulating microglial activation to alleviate neuroinflammation in ADHD.","authors":"Jiaqi Zhang, Ruxin Sun, Yu Xiong, Yuting Yang, Jing Wang, Kanglin Zhu, Xinqiang Ni, Min Huang","doi":"10.1016/j.bbrep.2025.102211","DOIUrl":"10.1016/j.bbrep.2025.102211","url":null,"abstract":"<p><strong>Background: </strong>Growing evidence suggests that dysregulated microglial activation and neuroinflammation in the prefrontal cortex may underlie the pathophysiology of Attention Deficit Hyperactivity Disorder. Utilizing spontaneously hypertensive rats-a well-validated animal model of ADHD-this study aimed to characterize ADHD-like behavioral phenotypes and prefrontal cortical neuronal development and elucidate the neuroimmunological mechanisms through which the Bushen Kaiqiao Formula (BSKQF) exerts its therapeutic effects by modulating microglial activation states.</p><p><strong>Methods: </strong>Ultra-high-performance liquid chromatography coupled with a tandem mass spectrometer (UHPLC-MS/MS) was used to qualitatively analyze the chemical composition of Bushen Kaiqiao Formula, and network pharmacology was applied to predict its potential therapeutic targets and ADHD-related pathways ADHD-like behaviors, including hyperactivity, impulsivity, spatial memory, and attention, were assessed using the Open Field Test, Elevated Plus Maze, and Y-Maze Test at weeks 2 and 4. Prefrontal cortical neuronal morphology and dendritic spine density were evaluated using Nissl staining and Golgi-Cox staining, respectively. Microglial activation (Iba-1+/iNOS + immunofluorescence), inflammatory cytokine levels (IL-1β and IL-6 by ELISA), and blood-brain barrier integrity (transmission electron microscopy) were examined. In vitro, primary prefrontal cortical neurons and microglia were isolated from neonatal rats and treated with BSKQF-containing serum at different concentrations, with Methylphenidate (MPH) as a control. An oxygen-glucose deprivation/reoxygenation (OGD/R) model was established to mimic neuroinflammatory conditions with inflammatory signaling pathways assessed.</p><p><strong>Results: </strong>UHPLC-MS/MS identified key bioactive components of Bushen Kaiqiao Formula. Network pharmacology analysis suggested that BSKQF may ameliorate ADHD-related behavioral deficits by inhibiting the NF-κB signaling pathway. Behavioral assessments demonstrated dose- and time-dependent effects. BSKQF significantly reduced neuronal loss, promoted synaptic plasticity, reduced the proportion of activated microglia (iNOS+/Iba-1+), and lowered IL-1β and IL-6 levels. Additionally, ultrastructural examination indicated restored blood-brain barrier integrity and reduced perivascular edema. In vitro, BSKQF-containing serum suppressed NF-κB pathway activation (p-NF-κB-p65, p-IκBα) and inflammasome-related proteins (NLRP3, caspase-1).</p><p><strong>Conclusion: </strong>BSKQF effectively alleviates ADHD-like behaviors in SHR rats by inhibiting prefrontal microglial activation and neuroinflammation, reducing neuronal apoptosis, restoring synaptic plasticity, and preserving blood-brain barrier integrity.</p>","PeriodicalId":8771,"journal":{"name":"Biochemistry and Biophysics Reports","volume":"43 ","pages":"102211"},"PeriodicalIF":2.2,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12396018/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144940757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dual probe ligation in situ hybridization with rolling-circle amplification for high-plex spatial transcriptomics.","authors":"Sarah E Maguire, Joel Credle, Elizabeth M W Bertelson, Sunny Lee, Boyoung Cha, Dan Xie, Greg Kirk, Debjit Ray, Logan George, Aditya Suru, Alexandre Maalouf, Chiseko Ikenaga, Thomas Lloyd, Nicolas J Llosa, H Benjamin Larman","doi":"10.1016/j.bbrep.2025.102207","DOIUrl":"10.1016/j.bbrep.2025.102207","url":null,"abstract":"<p><p>New biological insights are increasingly dependent upon a deeper understanding of tissue architectures. Critical to such studies are spatial transcriptomics technologies, especially those amenable to analysis of the most widely available human tissue type, formalin-fixed and paraffin-embedded (FFPE) clinical specimens. Here we build on our previous oligonucleotide probe ligation-based approach to accurately analyze FFPE mRNA, which suffers from variable levels of degradation. Ligation In Situ Hybridization followed by rolling circle amplification (LISH-Lock'n'Roll or LISH-LnR), provides a streamlined method to detect the spatial location of specific mRNA isoforms within FFPE tissue architectures. Iterative fluorescent probe hybridization and imaging enables highly multiplexed spatial transcriptomic studies, as demonstrated herein for fixed specimens from inclusion body myositis patients and pediatric rhabdomyosarcoma patients. We additionally demonstrate a system of molecular rheostats that can be used to fine tune the performance of the LISH-LnR assay. Combined with LISH-seq and LISH-QC, the LISH-LnR methodology provides a powerful toolkit for spatial transcriptomics.</p>","PeriodicalId":8771,"journal":{"name":"Biochemistry and Biophysics Reports","volume":"43 ","pages":"102207"},"PeriodicalIF":2.2,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12391569/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144940713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Na⁺ selective structural switch from an intramolecular triplex to tetrad stabilised by non-canonical mispairs in double repeat of <i>Arabidopsis thaliana</i> telomere (T₃AG₃)₂.","authors":"Aparna Bansal, Priyanka Phogat, Shrikant Kukreti","doi":"10.1016/j.bbrep.2025.102203","DOIUrl":"10.1016/j.bbrep.2025.102203","url":null,"abstract":"<p><p>DNA is polymorphic, as with four nucleobases, it can be configured in a number of secondary structures. The four-stranded DNA structures consisting of G-tetrads have especially been intriguing because of their proven existence in human cells. Due to the high prevalence of putative G-quadruplex-forming sequence motifs in the human genome, scientists in recent years have highlighted the potential of exploiting these exotic structures for targeted therapies for various cancers. G-quadruplexes are the most common and well-studied arrangements of four guanines; however, other possible non-canonical arrangements of nucleobases have also been reported. Herein, using Gel electrophoresis, Circular Dichroism, UV & CD-thermal denaturation methods, and NMR, we suggested that a double repeat of <i>Arabidopsis thaliana</i> telomere (T₃AG₃)₂ shows a structural switch from a non-canonical intramolecular triplex to a non-conventional tetrad other than an antiparallel G-quadruplex. This transition is mediated by increasing Na⁺ cation concentration from 0.1 M to 1.0 M, and the tetrad is fairly stabilised by a hydrogen-bonded cyclic array of non-canonical/mismatch base pairs (G∗G, G∗T, and T∗T). Intriguingly, such a structural transition was not manifested in the presence of K⁺ ions. To the best of our knowledge, such a cation-specific non-canonical structural switch, in a telomeric sequence, has not been proposed to date.</p>","PeriodicalId":8771,"journal":{"name":"Biochemistry and Biophysics Reports","volume":"43 ","pages":"102203"},"PeriodicalIF":2.2,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12396017/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144940742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of resistance to stripe rust in 267 Chinese spring wheat landraces germplasm and molecular detection of disease resistance genes.","authors":"Miaomiao Huang, Yuqing Zhang, Wanwei Hou, Ping Jin, Liang Huang","doi":"10.1016/j.bbrep.2025.102206","DOIUrl":"10.1016/j.bbrep.2025.102206","url":null,"abstract":"<p><p>Stripe rust (<i>Puccinia striiformis</i> f. sp. <i>tritici</i>) poses a major threat to Chinese wheat production. Assessing resistance levels and gene distribution in spring wheat landraces is critical for breeding durable resistant cultivars. This study evaluated 267 landraces from eight provinces for seedling resistance against dominant races CYR32/CYR34 and adult-plant resistance (APR) across five Qinghai natural disease nurseries during 2023-2024. At the seedling stage, 7.5 % (20 accessions; IT 0-6) and 12.4 % (33; IT 0-6) exhibited resistance to CYR32 and CYR34, respectively, with 2.99 % (8 accessions) conferring dual resistance. APR trials identified2.25 % (6 landraces) showed stable resistance, including Banjiemang with complete immunity (IT 0). Molecular analyses revealed prevalent <i>Yr</i> genes, <i>Yr10</i> (38.6 %,103/267), <i>Yr18</i> (29.6 %,79/267), <i>Yr26</i> (20.9 %, 56/267) and multi-gene combinations 60 accessions (22.5 %) with 2 genes; 33 (12.4 %) with ≥3 genes. Notably, 97 accessions (36.3 %) lacked known <i>Yr</i> genes, suggesting novel resistance mechanisms. The <i>Yr18/Yr2</i>6 combination emerged as a promising APR source. This study provides germplasm and genetic insights for pyramiding strategies to enhance stripe rust resistance.</p>","PeriodicalId":8771,"journal":{"name":"Biochemistry and Biophysics Reports","volume":"43 ","pages":"102206"},"PeriodicalIF":2.2,"publicationDate":"2025-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12390856/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144940740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dynamics of bacterial biofilm development imaged using light sheet fluorescence microscopy.","authors":"Lenka Šmerdová, Tibor Füzik, Lucie Valentová, Pavol Bárdy, Michaela Procházková, Martina Pařenicová, Pavel Plevka","doi":"10.1016/j.bbrep.2025.102127","DOIUrl":"10.1016/j.bbrep.2025.102127","url":null,"abstract":"<p><p>Biofilm formation exacerbates bacterial infections and interferes with industrial processes. However, the dynamics of biofilm development, especially if formed by a combination of more than one species, is not entirely understood. Here, we present a microfluidic cultivation system that enables continuous imaging of biofilm growth using light sheet fluorescence microscopy (LSFM). We studied the development of biofilms of the human pathogens <i>Staphylococcus aureus</i> and <i>Pseudomonas aeruginosa</i>. Multidirectional LSFM imaging enables the calculation of a three-dimensional reconstruction of the biofilm structure with isotropic resolution. Whereas <i>S. aureus</i> forms 50-70-μm-thick mushroom-like structures, a <i>P. aeruginosa</i> biofilm is 10-15 μm thick with cell clusters 25 μm in diameter. A combined biofilm resulted in the formation of large mushroom-like clusters of <i>S. aureus</i> cells that were subsequently dispersed by invading <i>P. aeruginosa.</i> A higher inoculation ratio favoring <i>P. aeruginosa</i> resulted in the formation of small and stable <i>S. aureus</i> clusters overgrown with <i>P. aeruginosa</i> cells. Applying conditioned media from <i>S. aureus</i> and <i>P. aeruginosa</i> coculture to a single-species <i>S. aureus</i> biofilm induced its dispersion. Integrating a microfluidic system into LSFM enables the visualization of biofilm formation dynamics and the effects of compounds on biofilm development.</p>","PeriodicalId":8771,"journal":{"name":"Biochemistry and Biophysics Reports","volume":"43 ","pages":"102127"},"PeriodicalIF":2.2,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12390859/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144940689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lack of association between <i>MALAT1</i> rs591291 and rs3200401 polymorphisms and venous malformation risk in the Chinese pediatric population.","authors":"Xi Lin, Jiantu Ou, Guitao Wu, Zhenyin Liu","doi":"10.1016/j.bbrep.2025.102209","DOIUrl":"10.1016/j.bbrep.2025.102209","url":null,"abstract":"<p><strong>Introduction: </strong>Venous malformations are the most common congenital vascular anomaly, accounting for 65 % of all congenital vascular abnormalities. This study aims to investigate the correlation between genetic polymorphisms of <i>MALAT1</i> and the risk of developing venous malformations.</p><p><strong>Methods: </strong>We collected samples and clinical data from a Chinese pediatric population (1113 patients and 1158 controls). Using real-time quantitative PCR, we performed TaqMan genotyping on <i>MALAT1</i> rs591291 C > T and rs3200401 C > T polymorphisms and further analyzed the data through statistical methods.</p><p><strong>Results: </strong>Sequencing results and analysis indicate that the <i>MALAT1</i> rs591291 C > T and rs3200401 C > T polymorphisms are not significantly correlated with the risk of venous malformation. When combined both genotypes also present no statistic difference in increased risk of developing these anomalies (odds ratio = 0.90, 95 % confidence interval = 0.72-1.13, <i>P</i> = 0.354). Stratified analysis of different subtypes of venous malformations revealed that there was no statistic difference in the selected polymorphisms of <i>MALAT1</i> across these subtypes.</p><p><strong>Conclusion: </strong>Our findings suggested that <i>MALAT1</i> rs591291 C > T and rs3200401 C > T polymorphisms were not correlated to the risk of venous malformation in the Chinese pediatric population.</p>","PeriodicalId":8771,"journal":{"name":"Biochemistry and Biophysics Reports","volume":"43 ","pages":"102209"},"PeriodicalIF":2.2,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12391741/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144940701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}