Hereditas最新文献

{"title":"miR-671-5p as a diagnostic biomarker and therapeutic target in periodontitis via THBS1 regulation.","authors":"Shan Huang, Wei Cheng, Jianlan Deng","doi":"10.1186/s41065-025-00546-w","DOIUrl":"10.1186/s41065-025-00546-w","url":null,"abstract":"<p><strong>Background: </strong>Early diagnosis and therapeutic targeting of periodontitis remain challenging. This study aimed to investigate the clinical relevance and mechanistic role of miR-671-5p in pathogenesis of periodontitis.</p><p><strong>Methods: </strong>Clinical data and gingival crevicular fluid (GCF) samples were collected from 78 periodontitis patients and 79 healthy controls. miR-671-5p expression in GCF was quantified via quantitative reverse transcription polymerase chain reaction (qRT-PCR), and the diagnostic efficacy was evaluated by receiver operating characteristic (ROC) analysis. To model inflammation, lipopolysaccharide (LPS)-stimulated human periodontal ligament fibroblasts (hPDLFs) were employed. Subsequently, miR-671-5p mimics or inhibitors were transfected to assess effects on cell viability assessed by CCK-8, cellular migration measured via Transwell assays, and cytokine secretion analyzed using enzyme-linked immunosorbent assay (ELISA). THBS1 targeting by miR-671-5p was validated via dual-luciferase assays.</p><p><strong>Results: </strong>miR-671-5p expression was significantly reduced in GCF of periodontitis patients, and a strongly correlation was observed with clinical severity indices. ROC analysis revealed high diagnostic accuracy. Furthermore, miR-671-5p levels exhibited an inverse correlation with TNF-α, IL-6, and IL-1β. In LPS-treated hPDLFs, miR-671-5p was associated with a dose-dependent reduction in cell viability and migration, as well as an increase in the production of inflammatory cytokines. miR-671-5p was found to directly target THBS1 mRNA, inhibiting its expression. miR-671-5p overexpression reversed LPS-induced functional impairment and inflammation; these beneficial effects were partially counteracted by THBS1 upregulation.</p><p><strong>Conclusions: </strong>miR-671-5p holds promise as a potential diagnostic biomarker and therapeutic target in periodontitis by regulating THBS1-mediated inflammatory responses and dysfunction of hPDLFs.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"185"},"PeriodicalIF":2.5,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12465853/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145148902","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 a KRT9 gene variant and preimplantation genetic diagnosis in a Chinese family with KRT9-palmoplantar epidermal differentiation disorder.","authors":"Dan Lin, Na Lin, Yao Zhou, Qi Li, Yanlin Ma","doi":"10.1186/s41065-025-00552-y","DOIUrl":"10.1186/s41065-025-00552-y","url":null,"abstract":"<p><strong>Objective: </strong>To investigate a Chinese family with epidermolysis bullosa palmoplantar keratosis, analyze the mutation loci in this family lineage, and perform preimplantation genetic testing using assisted reproductive technology to enable affected members of this Chinese family to have unaffected offspring.</p><p><strong>Methods: </strong>Clinical information and blood samples were collected from all affected family members to extract genomic DNA. We detected a mutation site in the KRT9 gene through whole-exome sequencing, then verified this family line's Keratin-9 gene variant locus using Sanger sequencing. After the pathogenicity was clarified, blastocyst trophoblast cells were extracted for Preimplantation Genetic Testing for Monogenic (PGT-M)(Single Gene) Disorders using the in vitro fertilization embryo transfer technique, and suitable embryos were selected for transfer. Amniocentesis was performed to extract fetal exfoliated cells for prenatal diagnosis at 18 weeks of fetal development.</p><p><strong>Results: </strong>A heterozygous mutation c.503T > C (p. Leu168Ser), which results in the substitution of a leucine for a serine (p. Leu168Ser), was detected in the KRT9 gene in the proband and his father, which is located in the highly conserved helix 1 A region of Keratin 9, resulting in an abnormal function of the intermediate filamentous proteins expressed by Keratin 9 encodes genes which are expressed in the palmo-plantar regions of the epidermis, and the patients of the family present with pronounced palmar-plantar keratoderma.</p><p><strong>Conclusion: </strong>We identified the c.503T > C (p. Leu168Ser) missense mutation in exon 1 of the KRT9 gene as the cause of KRT9-palmoplantar epidermal differentiation disorder (KRT9-pEDD) in a Chinese family. Under the guidance of comprehensive genetic counseling, employing PGT-M, we successfully prevented the transmission of the KRT9-pEDD pathogenic variant, resulting in the birth of a healthy child.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"183"},"PeriodicalIF":2.5,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462274/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137217","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":"Unveiling the mechanisms of yanhusuo's therapeutic effects in neuropathic pain through network pharmacology, single-cell RNA sequencing, and molecular docking.","authors":"Rui Liu, Min Yu, Kaihan Zhuang, Tingting Liu, Shanlian Suo, Haitao Dong","doi":"10.1186/s41065-025-00551-z","DOIUrl":"10.1186/s41065-025-00551-z","url":null,"abstract":"<p><strong>Background: </strong>Current therapeutic strategies for neuropathic pain (NP) encompass pharmacological agents, physical modalities, psychological support, and interventional procedures, which aim to mitigate inflammation, enhance vascular perfusion in afflicted regions, and modulate immune responses. However, the heterogeneity of NP pathogenesis and individual variability often lead to inconsistent treatment outcomes.</p><p><strong>Methods: </strong>An integrative network pharmacology framework was employed to elucidate the mechanistic basis of Yanhusuo in NP management. NP patients were categorized via unsupervised clustering, followed by single-cell sequencing and cell-cell communication analysis to identify immune cell interactions. Active compounds and targets of Yanhusuo were identified using the Traditional Chinese Medicine Systems Pharmacology (TCMSP) and SwissTargetPrediction databases. Network pharmacology tools, including Cytoscape, facilitated the construction of protein-protein interaction (PPI), compound-target-disease, and compound-target-pathway networks. Topological analyses identified core targets and pathways, while the Database for Annotation, Visualization and Integrated Discovery (DAVID) bioinformatics platform was used for functional enrichment analysis. Finally, molecular docking analysis was conducted to evaluate ligand-receptor binding affinities.</p><p><strong>Results: </strong>Nine bioactive compounds and 53 NP-associated targets were identified in Yanhusuo. PPI analysis suggests that ACTB, PPP1CA, ERK1, and PTEN may be the hub nodes with maximal centrality. KEGG pathway enrichment highlighted the focal adhesion pathway as pivotal in Yanhusuo's anti-NP activity. Molecular docking suggests that there may be strong binding interactions between key compounds and hub targets (e.g. binding energy<-6.5 kcal/mol).</p><p><strong>Conclusions: </strong>This work systematically maps Yanhusuo's multi-target, multi-pathway therapeutic landscape in NP, offering a strategic foundation for mechanistic research and drug discovery. The identified bioactive candidates represent promising candidates for NP therapeutics.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"182"},"PeriodicalIF":2.5,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462212/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137227","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":"Correction: Qingjie Fuzheng granules attenuate cancer cachexia by restoring gut microbiota homeostasis and suppressing IL-6/NF-κB signaling in colorectal adenocarcinoma.","authors":"Yishun Jin, Lisha Lu, Hangju Hua, Biyin Chen, Wenzheng Fang, Kaimin Lin, Peng Ren, Zhenbo Geng, Ling Wang, Xiaohua Yan, Wujin Chen, Jiumao Lin","doi":"10.1186/s41065-025-00577-3","DOIUrl":"10.1186/s41065-025-00577-3","url":null,"abstract":"","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"181"},"PeriodicalIF":2.5,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12442256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145080495","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":"Single-cell multi-omics as a window into the non-coding transcriptome.","authors":"Hua-Sheng Chiu","doi":"10.1186/s41065-025-00573-7","DOIUrl":"10.1186/s41065-025-00573-7","url":null,"abstract":"<p><p>This Editorial introduces my research background as the new Non-coding RNA Section Editor at Hereditas and serves as a call for submissions for the special collection, \"Single-Cell Multi-Omic Analysis of Cancer Interactome\". Single-cell multi-omic approaches are opening new windows into the non-coding transcriptome, revealing how these molecules shape cellular identity in ways bulk analyses often miss. In this article, I focus on non-coding RNAs and emphasize the importance of integrative systems biology and multi-omics in this field, while also highlighting how these perspectives can guide future discoveries. I cordially invite you to contribute your work by submitting manuscripts to this collection.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"179"},"PeriodicalIF":2.5,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12439418/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145075136","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":"RBM15 promotes COAD progression by regulating the m6A modification of TMC5.","authors":"Errong Tian, Li Gao, Lan Wu, Limin Qin","doi":"10.1186/s41065-025-00530-4","DOIUrl":"https://doi.org/10.1186/s41065-025-00530-4","url":null,"abstract":"<p><strong>Background: </strong>Colon adenocarcinoma (COAD) is a frequent digestive system malignancy with high mortality and poor prognosis. Transmembrane Channel-like 5 (TMC5) has been reported to play an oncological role in various cancers. However, the role and mechanism of TMC5 in COAD remain unclear.</p><p><strong>Methods: </strong>TIMER and UALCAN databases analyzed the expression of TMC5 in COAD. TMC5, RNA-binding motif protein-15 (RBM15), E-cadherin, N-cadherin, Vimentin, Fibronectin, and RAD51 protein levels were determined using western blot. TMC5, RBM15, Ferritin heavy chain 1 (FTH1), and cystine/glutamate antiporter SLC7A11 (also commonly known as xCT) mRNA levels were examined using real-time quantitative polymerase chain reaction (RT-qPCR). Cell proliferation, apoptosis, migration, and invasion were assessed using 5-ethynyl-2'-deoxyuridine (EdU), flow cytometry, and transwell assays. Caspase 3 activity, ROS level, Fe⁺ level, and glycolysis level were detected using commercial kits. Immunofluorescence assay analyzed 53BP1 and γH2AX foci. Role of TMC5 on COAD tumor growth was examined using xenograft tumor model in vivo. After SRAMP database analysis, interaction between RBM15 and TMC5 was verified using methylated RNA immunoprecipitation (MeRIP) and dual-luciferase reporter assay.</p><p><strong>Results: </strong>TMC5 and RBM15 levels were significantly increased in COAD tissues and cells. Moreover, TMC5 silencing could inhibit COAD cell proliferation, migration, invasion, EMT, glycolysis, and induce apoptosis and ferroptosis in vitro, as well as repress tumor growth in vivo. At the molecular level, RBM15 could sustain RNA stability and TMC5 expression through regulating the m6Amodification.</p><p><strong>Conclusion: </strong>RBM15 could facilitate COAD cell malignant behaviors at least by regulating the stability of TMC5 mRNA, providing a powerful and hopeful target for COAD treatment.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"177"},"PeriodicalIF":2.5,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12395726/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144951415","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":"Qingxie Fuzheng granules attenuate cancer cachexia by restoring gut microbiota homeostasis and suppressing IL-6/NF-κB signaling in colorectal adenocarcinoma.","authors":"Yishun Jin, Lisha Lu, Hangju Hua, Biyin Chen, Wenzheng Fang, Kaimin Lin, Peng Ren, Zhenbo Geng, Ling Wang, Xiaohua Yan, Wujin Chen, Jiumao Lin","doi":"10.1186/s41065-025-00541-1","DOIUrl":"10.1186/s41065-025-00541-1","url":null,"abstract":"<p><p>Cancer cachexia, a debilitating syndrome characterized by muscle wasting and systemic inflammation, remains a major unmet clinical need. Qingxie Fuzheng Granules (QFG), a traditional Chinese medicine formulation, have shown promise in cancer therapy, but their role in cachexia management is unclear.Here, we investigated the anti-cachectic effects of QFG in a murine model of colon adenocarcinoma-induced cachexia. 16S rRNA sequencing revealed gut dysbiosis in cachectic mice, with increased Enterobacteriaceae and decreased Lactobacillus. QFG treatment restored microbial balance, reduced pro-inflammatory cytokines TNF-α, IL-6, and enhanced intestinal barrier integrity by upregulating tight junction proteins ZO-1, Occludin, Calprotectin.Mechanistically, QFG rebalanced Th17/Treg cell ratios and suppressed IL-6/NF-κB signaling, a key driver of muscle atrophy. Combining QFG with glutamine (Gln) further amplified these effects, suggesting synergistic therapeutic potential.Our findings demonstrate that QFG ameliorates cancer cachexia through microbiota modulation and IL-6/NF-κB inhibition, providing a novel multi-targeted approach for cachexia treatment.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"178"},"PeriodicalIF":2.5,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12398093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144951460","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":"Decoding the PTTG family's contribution to LUAD pathogenesis: a comprehensive study on expression, epigenetics, and therapeutic interventions.","authors":"Jinna Di, Li Tian, Fan Yan, Zhang Zhe, Cai Lin, Liu Jingyu","doi":"10.1186/s41065-025-00545-x","DOIUrl":"https://doi.org/10.1186/s41065-025-00545-x","url":null,"abstract":"<p><strong>Background: </strong>Lung adenocarcinoma (LUAD) stands as a prevalent malignancy, yet its pathology remains incompletely comprehended.</p><p><strong>Methods: </strong>In this comprehensive study, we explored the roles of the pituitary tumor-transforming gene (PTTG) family, including PTTG1, PTTG2, and the pseudogene PTTG3P in lung adenocarcinoma (LUAD). Employing a multi-faceted approach, we conducted in-depth analyses using clinical samples and expression datasets.</p><p><strong>Results: </strong>Our findings revealed a significant up-regulation of PTTG family genes in LUAD cell lines and tissue samples compared to adjacent normal controls, suggesting their potential as diagnostic biomarkers. Through promoter methylation and mutational analyses, we uncovered regulatory mechanisms influencing PTTG gene expression. The exploration of the PTTG family's impact on LUAD patient survival demonstrated their association with adverse outcomes, emphasizing their potential prognostic relevance. Moreover, functional assays demonstrated that the knockdown of PTTG1 and PTTG2 genes resulted in the reduction of cell proliferation, colony formation, and cell migration abilities in A549 and H1975 LUAD cells. Furthermore, our investigation extended to therapeutic avenues, where we identified Calcitriol as a potential drug within the DrugBank database to down-regulate PTTG genes. Molecular docking analyses provided insights into the strong interaction between Calcitriol and PTTG1/PTTG2 proteins, laying the groundwork for further exploration of Calcitriol in LUAD treatment.</p><p><strong>Conclusion: </strong>In conclusion, this study contributes a comprehensive understanding of the PTTG family's involvement in LUAD, shedding light on their diagnostic, prognostic, and therapeutic implications.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"175"},"PeriodicalIF":2.5,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12395852/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144951748","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":"HOXA13 promotes high glucose-induced trophoblast cell growth and migration during gestational diabetes by regulating the smad2 pathway.","authors":"Fei Zhao, Xinhong Liu, Hong Qin","doi":"10.1186/s41065-025-00542-0","DOIUrl":"https://doi.org/10.1186/s41065-025-00542-0","url":null,"abstract":"<p><strong>Background: </strong>Gestational diabetes mellitus (GDM) is considered the most common complication of pregnancy, and is a very dangerous disease for both mother and baby. Homeobox A13 (HOXA13) has been discovered to join into some diseases through exhibiting regulatory functions. Importantly, hypermethylation of HOXA13 has been observed in the placental tissues of preeclampsia. However, the regulatory impacts of HOXA13 on GDM progression keep dimness.</p><p><strong>Methods: </strong>The GDM cell model and GDM rat model were established. The expressions of genes were measured through RT-qPCR, western blot or IHC assay. The cell proliferation was tested through MTT and Edu assays. The cell migration was determined through Transwell assay. The fasting blood glucose of rats was detected through the blood glucose meter.</p><p><strong>Results: </strong>HOXA13 was verified to be lowly expressed in placental tissues from GDM patients. In addition, the cell proliferation and migration abilities of trophoblast cells were attenuated after high glucose (HG) treatment, but these impacts were counteracted after HOXA13 overexpression. It was further demonstrated that HOXA13 affected the proliferation and migration abilities of HG-triggered trophoblast cells by enhancing smad2 expression. At last, it was testified that HOXA13 can ameliorate GDM symptoms in vivo.</p><p><strong>Conclusion: </strong>This study manifested that HOXA13 accelerated HG-triggered trophoblast cell growth and migration by regulating the smad2 pathway. This discovery hinted that HOXA13 may be a target for ameliorating GDM.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"176"},"PeriodicalIF":2.5,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12395676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144951751","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":"The methylation site cg06972019 regulates the succinylation-related gene ENO1 to inhibit the occurrence of erectile dysfunction.","authors":"Jian Wang, Siyuan Ye, Maoxiao Xu, Mengru Sun, Yang Lu, Zhenrong Piao, Fengmeng Teng, Maosen Zhang","doi":"10.1186/s41065-025-00543-z","DOIUrl":"https://doi.org/10.1186/s41065-025-00543-z","url":null,"abstract":"<p><strong>Background: </strong>This study aims to explore the causal relationship between the expression of succinylation-related genes and erectile dysfunction (ED).</p><p><strong>Method: </strong>Through a literature review, we identified 19 succinylation-related genes and intersected them with cis-expression Quantitative Trait Loci (cis-eQTL) data from the eQTLGen Consortium, ultimately selecting 16 genes with available cis-eQTL data. Subsequently, we downloaded genomic data related to erectile dysfunction (ED) from 223,805 European male participants in the IEU OpenGWAS project and performed a two-sample Mendelian Randomization (MR) analysis. Summary-based Mendelian Randomization (SMR) analysis and ELISA testing further confirmed the statistical association between ENO1 gene expression and ED risk. Mediation analysis was used to explore the potential regulatory role of DNA methylation in the relationship between gene expression and ED.</p><p><strong>Result: </strong>Through MR analysis, a significant causal relationship between the ENO1 gene and ED was identified. The results indicated that the expression of the ENO1 gene has a significant causal effect on the risk of ED (OR: 1.2388, 95% CI: 1.0708-1.4332, p < 0.05). SMR analysis further confirmed the causal relationship between ENO1 gene expression and ED (SMR_p-value = 0.0040). Mediation analysis suggested that the methylation site cg06972019 may inhibit the occurrence of ED by regulating ENO1, with the mediation proportion accounting for 67.6% of the total effect (P = 0.0013). ELISA results showed that the serum ENO1 levels in ED patients were significantly higher than those in the healthy control group (p < 0.05), validating the potential role of ENO1 in ED.</p><p><strong>Conclusion: </strong>This study revealed the potential causal relationship of the ENO1 gene in the development of ED through Mendelian Randomization and SMR analysis, further validating the association between gene expression and ED. The overexpression of the ENO1 gene may be regulated by the methylation site cg06972019. These findings provide new insights into the molecular mechanisms of ED and may offer new biomarkers for the early diagnosis and targeted treatment of ED.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"172"},"PeriodicalIF":2.5,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12382075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144951508","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}