Current GenomicsPub Date : 2025-01-01Epub Date: 2026-02-24DOI: 10.2174/0113892029392506251115053421
Sunil Kumar Kadiri, Prashant Tiwari
{"title":"Genetic Uncertainties Fueling Cholangiocarcinoma Progression.","authors":"Sunil Kumar Kadiri, Prashant Tiwari","doi":"10.2174/0113892029392506251115053421","DOIUrl":"10.2174/0113892029392506251115053421","url":null,"abstract":"<p><p>Intrahepatic cholangiocarcinoma (iCCA) is a highly aggressive type of liver cancer that is difficult to treat due to its complicated causes. It is typically detected in advanced stages, leaving patients with few treatment options. Recent breakthroughs in genomic research have emphasized the pivotal significance of genetic changes in the initiation and advancement of intrahepatic cholangiocarcinoma (iCCA). The objective of this study was to investigate the genetic relationships that are responsible for the development and advancement of intrahepatic cholangiocarcinoma (iCCA), with a specific focus on crucial mutations, gene expressions, and molecular pathways that contribute to the formation of tumors. By performing a thorough examination of the genome, we have discovered multiple genetic abnormalities that are frequently linked to intrahepatic cholangiocarcinoma (iCCA), such as changes in the <i>IDH1/2, FGFR2</i>, and <i>KRAS</i> genes. These mutations have been discovered to promote cancer-causing processes by interfering with regular cellular functioning and increasing the likelihood of malignant transformation. Furthermore, the study has examined the influence of epigenetic alterations on gene expression, which enhances the diversity and aggressive characteristics of iCCA. The results have emphasized the significance of genetic profiling in comprehending the molecular pathways that underlie intrahepatic cholangiocarcinoma (iCCA) and highlighting prospective targets for therapy. This review has made an attempt to provide a clear understanding of the genetic characteristics of iCCA, which can lead to the development of tailored treatment strategies. This has the potential to improve outcomes for patients with this challenging condition.</p>","PeriodicalId":10803,"journal":{"name":"Current Genomics","volume":"26 6","pages":"513-529"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13154262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147980988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Novel <i>De Novo</i> Assembly Approach for Transcriptome Profiling and Marker Identification in <i>Grewia Asiatica</i> (Phalsa), a Medicinal Plant, Across Leaf And Root Tissues.","authors":"Bharat Taindu Jain, Mukul Jain, Nil Patil, Alpa Yadav, Paramdeep Singh Danda, Meenakshi Sharma, Prashant Kaushik","doi":"10.2174/0113892029397989251119050543","DOIUrl":"10.2174/0113892029397989251119050543","url":null,"abstract":"<p><strong>Introduction: </strong>This study aims to conduct a comprehensive transcriptome analysis of <i>Grewia asiatica</i> (Phalsa) to identify molecular markers and differential gene expression in leaf and root tissues. <i>G. asiatica</i> is recognized for its medicinal properties, attributed to its rich phytochemical profile, including antioxidant, anti-inflammatory, antimicrobial, and hypoglycemic effects. However, genetic insights into the molecular basis of these bioactive properties remain limited.</p><p><strong>Methodology: </strong>High-throughput Illumina sequencing was performed, generating 32.97 million clean reads from roots and 33.96 million from leaves. A 98.75% complete <i>de novo</i> assembly yielded 41,678 unigenes. SNP and SSR markers were identified, and transcription factors across 100 families were characterized. Differential gene expression analysis was conducted, followed by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses. Key differentially expressed genes (DEGs) were validated through qRT-PCR.</p><p><strong>Results: </strong>A total of 316,613 SNPs were identified in roots and 247,967 SNPs in leaves. SSR analysis revealed 21,634 markers, with mononucleotide repeats being predominant. A total of 5,781 transcription factors (TFs) were characterized, including members of the C2H2, MYB-HB-like, and bHLH families. Differential expression analysis identified 4,643 DEGs, with flavonoid biosynthesis genes upregulated in leaves and lignin-associated genes upregulated in roots.</p><p><strong>Discussion: </strong>GO and KEGG analyses highlighted significant enrichment of metabolic and biosynthetic pathways. The medicinal benefits of <i>G. asiatica</i> are linked to its antioxidant properties, which combat oxidative stress; anti-inflammatory effects, which may aid in arthritis relief; antimicrobial activity against pathogens; hypoglycemic effects for blood sugar regulation; and iron content, which is beneficial for anemia treatment.</p><p><strong>Conclusion: </strong>This study provides valuable SNP and SSR markers and offers insights into the genetic mechanisms underlying the medicinal properties of <i>G. asiatica</i>. These findings support future molecular breeding programs and pharmacological research on this underutilized medicinal plant.</p>","PeriodicalId":10803,"journal":{"name":"Current Genomics","volume":"26 6","pages":"690-702"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13154278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147981027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Understanding the Evolutionary Adaptations and the Associated Functional Dynamics of Diatom <i>Cyclotella Cryptica</i>: A Chloroplast Genome-wide Comparative Study.","authors":"Pankaj Kumar Singh, Baskaran Srinivasan, M Arockia Babu, Nisha Bansal, Thakur Gurjeet Singh, Yogita Tyagi, Roshan Kumar","doi":"10.2174/0113892029458363260416055201","DOIUrl":"10.2174/0113892029458363260416055201","url":null,"abstract":"<p><strong>Introduction: </strong><i>Cyclotella cryptica</i> is a marine diatom recognized as a promising biofuel resource and a model organism for studying diatom physiology and biotechnology. Since lipid biosynthesis in microalgae initiates in plastids, understanding chloroplast genome organization is crucial for advancing biofuel-related research.</p><p><strong>Objective: </strong>The work is focused on sequencing and analyzing the chloroplast genome of C. cryptica and performing a phylogenomic comparative analysis.</p><p><strong>Methods: </strong>The sequencing and annotation of the chloroplast genome of <i>C. cryptica</i> were performed. Comparative phylogenomic analysis was conducted using 27 diatom chloroplast genomes to investigate evolutionary relationships.</p><p><strong>Results: </strong>The chloroplast genome was 129,273 bp in length and contained 132 predicted gene biotypes, including 57 protein-coding genes, 67 tRNA genes, and 8 rRNA genes. Phylogenomic analysis revealed that centric diatoms clustered into a single clade, whereas pennate diatoms formed two distinct clades.</p><p><strong>Discussion: </strong>The conserved clustering of centric diatoms and the clear separation from pennate diatoms reflect established evolutionary patterns within diatoms and highlight the conserved nature of chloroplast genomes in Cyclotella species.</p><p><strong>Conclusion: </strong>These findings enhance understanding of chloroplast genome organization and evolution in Cyclotella and other diatoms and provide valuable genomic insights that may support future research aimed at improving biofuel production.</p>","PeriodicalId":10803,"journal":{"name":"Current Genomics","volume":"26 7","pages":"833-842"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13154245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147980697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Current GenomicsPub Date : 2025-01-01Epub Date: 2025-01-17DOI: 10.2174/0113892029320896241218055907
Danyi Li, Dong Liu, Yang Li, Zhongyan Lai, Wenjie Cao
{"title":"Causal Associations of Smoking, Alcohol, Obesity, Sedentary Behavior, Hypertension, and Hyperglycemia With Retinal Vein Occlusion: A Mendelian Randomization Study.","authors":"Danyi Li, Dong Liu, Yang Li, Zhongyan Lai, Wenjie Cao","doi":"10.2174/0113892029320896241218055907","DOIUrl":"10.2174/0113892029320896241218055907","url":null,"abstract":"<p><strong>Background: </strong>Retinal Vein Occlusion (RVO) is a common and main cause of blindness. Causal, possible risk variables must be identified to develop preventative strategies for RVO. Thus, we decided to evaluate whether smoking, alcohol, obesity, sedentary behaviour, hypertension, and hyperglycemia are associated with increased risk of RVO.</p><p><strong>Methods: </strong>The data sources of Mendelian Randomization (MR) study included FinnGen consortium and the original GWAS article. A total of 130,604 cases with RVO from FinnGen consortium and 12,136 cases with RVO from the original GWAS article. The exposures of this MR study included smoking, alcoholic consumption, obesity, sedentariness, hypertension, and hyperglycemia. The outcome of this MR study was RVO.</p><p><strong>Results: </strong>Genetic predispositions to alcohol consumption (OR (odds ratio), 1.124; 95%CI, 1.007-1.254; <i>P</i>=0.037) and hyperglycemia (OR, 1.108; 95%CI, 1.023-1.200; <i>P</i>=0.012) were associated with increased risks of RVO in FinnGen. There were no significant associations of genetically predicted consumption of smoking (OR, 1.037; 95%CI, 0.341-3.155; <i>P</i>=0.949), obesity (OR, 1.045; 95%CI, 0.975-1.119; <i>P</i>=0.213), sedentariness (OR, 1.022; 95%CI, 0.753-1.38-; <i>P</i>=0.888), or hypertension (OR, 0.944; 95%CI, 0.848-1.051; <i>P</i>=0.290) with RVO.</p><p><strong>Conclusion: </strong>This MR analysis provides genetic evidence that increased alcohol consumption and hyperglycemia may be causal risk factors for RVO. In addition, no genetic evidence in this MR analysis supported that there were causal associations between smoking, sedentariness, obesity and hypertension with RVO.</p>","PeriodicalId":10803,"journal":{"name":"Current Genomics","volume":"26 4","pages":"290-301"},"PeriodicalIF":1.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12606668/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145511822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Current GenomicsPub Date : 2025-01-01Epub Date: 2025-01-02DOI: 10.2174/0113892029291661241114055924
Chenwei Gui, Yan Gao, Rong Zhang, Guohong Zhou
{"title":"Bioinformatics Analysis of Lactylation-related Biomarkers and Potential Pathogenesis Mechanisms in Age-related Macular Degeneration.","authors":"Chenwei Gui, Yan Gao, Rong Zhang, Guohong Zhou","doi":"10.2174/0113892029291661241114055924","DOIUrl":"10.2174/0113892029291661241114055924","url":null,"abstract":"<p><strong>Background: </strong>Lactylation is increasingly recognized to play a crucial role in human health and diseases. However, its involvement in age-related macular degeneration (AMD) remains largely unclear.</p><p><strong>Objectives: </strong>The aim of this study was to identify and characterize the pivotal lactylation-related genes and explore their underlying mechanism in AMD.</p><p><strong>Methods: </strong>Gene expression profiles of AMD patients and control individuals were obtained and integrated from the GSE29801 and GSE50195 datasets. Differentially expressed genes (DEGs) were screened and intersected with lactylation-related genes for lactylation-related DEGs. Machine learning algorithms were used to identify hub genes associated with AMD. Subsequently, the selected hub genes were subject to correlation analysis, and reverse transcription quantitative real-time PCR (RT-qPCR) was used to detect the expression of hub genes in AMD patients and healthy control individuals.</p><p><strong>Results: </strong>A total of 68 lactylation-related DEGs in AMD were identified, and seven genes, including <i>HMGN2</i>, <i>TOP2B</i>, <i>HNRNPH1</i>, <i>SF3A1</i>, <i>SRRM2</i>, <i>HIST1H1C</i>, and <i>HIST1H2BD</i> were selected as key genes. RT-qPCR analysis validated that all 7 key genes were down-regulated in AMD patients.</p><p><strong>Conclusion: </strong>We identified seven lactylation-related key genes potentially associated with the progression of AMD, which might deepen our understanding of the underlying mechanisms involved in AMD and provide clues for the targeted therapy.</p>","PeriodicalId":10803,"journal":{"name":"Current Genomics","volume":"26 3","pages":"191-209"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12105335/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Current GenomicsPub Date : 2025-01-01Epub Date: 2024-10-01DOI: 10.2174/0113892029325491240919151045
Ujwal Dahal, Anu Bansal
{"title":"Unravelling Prokaryotic Codon Usage: Insights from Phylogeny, Influencing Factors and Pathogenicity.","authors":"Ujwal Dahal, Anu Bansal","doi":"10.2174/0113892029325491240919151045","DOIUrl":"10.2174/0113892029325491240919151045","url":null,"abstract":"<p><p>Analyzing prokaryotic codon usage trends has become a crucial topic of study with significant ramifications for comprehending microbial genetics, classification, evolution, and the control of gene expression. This review study explores the numerous facets of prokaryotic codon usage patterns, looking at different parameters like habitat and lifestyle across broad groups of prokaryotes by emphasizing the role of codon reprogramming in adaptive strategies and its integration into systems biology. We also explored the numerous variables driving codon usage bias, including natural selection, mutation, horizontal gene transfer, codon-anticodon interaction, and genomic composition in prokaryotes through a thorough study of current literature. Furthermore, a special session on codon usage on pathogenic prokaryotes and the role of codon usage in the phylogeny of prokaryotes has been discussed. We also looked at the various software and indices that have been recently applied to prokaryotic genomes. The promising directions that lay ahead to map the future of codon usage research on prokaryotes have been emphasized. Codon usage variations across prokaryotic communities could be better understood by combining environmental, metagenomic, and system biology approaches.</p>","PeriodicalId":10803,"journal":{"name":"Current Genomics","volume":"26 2","pages":"81-94"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12105230/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Current GenomicsPub Date : 2025-01-01Epub Date: 2025-09-22DOI: 10.2174/0113892029371937250918105052
Yasir Nawaz, Saba Munir, Sidra Aslam, Fizza Rimal Butt, Fouzia Tanvir, Basit Nawaz, Kazam Bashir, Rikza Tahreem
{"title":"The Bacterial Role in the Progression of Breast Cancer through Mechanism of Gene Action: Future Prospects with Existing Studies.","authors":"Yasir Nawaz, Saba Munir, Sidra Aslam, Fizza Rimal Butt, Fouzia Tanvir, Basit Nawaz, Kazam Bashir, Rikza Tahreem","doi":"10.2174/0113892029371937250918105052","DOIUrl":"10.2174/0113892029371937250918105052","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer is the main cause of death for women, even with major improvements in treatment. Through processes like DNA damage, estrogen metabolism, and immunological regulation, bacterial populations have been shown to have an impact on breast cancer development in recent studies.</p><p><strong>Objectives: </strong>This review aimed to examine and evaluate current research on the involvement of bacteria in breast cancer progression, with an emphasis on gene action mechanisms and potential future treatments targeting the microbiome.</p><p><strong>Methods: </strong>A thorough literature analysis was carried out to identify pertinent research published between 1989-2024 across various databases, including PubMed, Google Scholar, Google, and Scopus.</p><p><strong>Results: </strong>Bacterial dysbiosis in the gut and breast tissue contributes to the progression of breast cancer through different pathways. Double-strand breaks in DNA are linked to various bacteria, like <i>Escherichia coli</i>, <i>Staphylococcus epidermidis</i>, <i>Helicobacter pylori,</i> and <i>Fusobacterium,</i> which contribute to genomic instability. Breast cancers are influenced by hormones that are influenced by gut microbiota, namely the estrobolome, which regulates estrogen levels. Bacteria also impact immune responses by preventing anti-tumor immunity. These results suggest that restoring microbial balance to specific bacterial taxa may open up new treatment options. Different genes may contribute to variations, including an increase in regulatory T (Treg) cells, while FOXP3+ T cells are linked to shorter relapse-free survival. Understanding the microbiota's role in DNA damage, hormone regulation, and immune modulation is important.</p><p><strong>Conclusion: </strong>Bacteria contribute significantly to the development of breast cancer through gene-level processes. Probiotics, immunomodulatory techniques, and microbiome-targeted treatments are potential future developments that could improve therapy effectiveness and reduce resistance.</p>","PeriodicalId":10803,"journal":{"name":"Current Genomics","volume":"26 6","pages":"458-468"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13154230/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147971204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Decoding the Methylome: Insights into the Epigenetic Regulation of Polycystic Ovarian Syndrome through Mitochondrial DNA Methylation.","authors":"Aparna Eledath Kolasseri, Ramasamy Tamizhselvi, Sivaraman Jayanthi","doi":"10.2174/0113892029401274251009070350","DOIUrl":"10.2174/0113892029401274251009070350","url":null,"abstract":"<p><p>Polycystic Ovarian Syndrome (PCOS) imposes significant societal health and economic challenges. The precise determinants behind the global prevalence of PCOS are still poorly understood. However, epigenetic modifications in PCOS, such as DNA methylation, have been recognized as a method by which the environment interacts with the genome. Evidence suggests that changes in mitochondrial (mt)DNA methylation may have a role in the heightened occurrence of PCOS. This article provides a comprehensive overview of nuclear DNA methylation, mitochondrial DNA methylation, and their significance in regulating gene expression. Pre-existing scholarly works shed insight into the complex interaction of DNA methylation and other epigenetic modifications associated with PCOS. In addition, this review gathers a detailed explanation of several methodologies employed to assess alterations in DNA methylation at specific sites and across the nuclear and mitochondrial genomes. Integrating mtDNA methylation alterations may be a promising diagnostic strategy for PCOS, potentially paving the way for novel therapeutic interventions.</p>","PeriodicalId":10803,"journal":{"name":"Current Genomics","volume":"26 6","pages":"422-433"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13154246/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147971168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Current GenomicsPub Date : 2025-01-01Epub Date: 2025-10-23DOI: 10.2174/0113892029373131251017114954
Linxiang Wang, Hongming Meng, Han Zhou, Zeyu Shou, Liangyan Chen, Xiaojing Huang, Zhibiao Bai, Chun Chen
{"title":"Application of Machine Learning and Mendelian Randomization Analysis to Identify the Cuproptosis-Related Biomarker and Its Related Regulation in Osteonecrosis of the Femoral Head.","authors":"Linxiang Wang, Hongming Meng, Han Zhou, Zeyu Shou, Liangyan Chen, Xiaojing Huang, Zhibiao Bai, Chun Chen","doi":"10.2174/0113892029373131251017114954","DOIUrl":"10.2174/0113892029373131251017114954","url":null,"abstract":"<p><strong>Introduction: </strong>Osteonecrosis of the Femoral Head (ONFH) is one of the common refractory diseases. However, the role of cuproptosis in ONFH pathogenesis remains unexplored. This study aimed to investigate the potential relationship between cuproptosis and ONFH.</p><p><strong>Methods: </strong>ONFH-related datasets were obtained from the Gene Expression Omnibus (GEO) database, and cuproptosis-related genes in the GSE123568 dataset were identified through differential expression analysis. To further discover potential cuproptosis-related biomarkers, Least Absolute Shrinkage and Selection Operator (LASSO) regression analysis and Support Vector Machine (SVM) analysis were conducted. The Receiver Operating Characteristic (ROC) curve analysis was used to explore the diagnostic value of cuproptosis-related biomarkers. The summary Statistics-based Mendelian Randomization (SMR) algorithm was used to investigate the causal relationship between the related genes and ONFH. The immune infiltration analysis was conducted to assess the effect of immune cells on ONFH. Subsequently, the GSE74089 and GSE89587 datasets were used to validate gene expression levels and predict the lncRNA-miRNA-mRNA network. Finally, quantitative Real-Time Polymerase Chain Reaction (qRT-PCR) was employed to validate the expression of these genes.</p><p><strong>Results: </strong>The study showed that the upregulation of <i>PDHB</i>, a cuproptosis-related biomarker, may contribute to the development of ONFH. Additionally, immune cells were found to play a crucial role in ONFH, and PDHB showed a significant association with various immune cells. Furthermore, the study identified the existence of the <i>MIR22HG</i>/<i>let-7c-5p</i>/<i>PDHB</i> regulatory pathway, which may play a critical role in ONFH through cuproptosis.</p><p><strong>Discussion: </strong>This study discovered a cuproptosis-related regulating pathway, MIR22HG/let-7c-5p/PDHB. This can provide new insights into the treatment of ONFH. However, further experimental validation is needed.</p><p><strong>Conclusion: </strong><i>PDHB</i>, identified as a cuproptosis-related biomarker, can induce ONFH through cuproptosis. <i>PDHB</i> also contributes to the pathogenesis and progression of ONFH by influencing immune cell function. This is most likely mediated through the regulatory interaction between <i>MIR22HG, let-7c-5p,</i> and <i>PDHB</i>.</p>","PeriodicalId":10803,"journal":{"name":"Current Genomics","volume":"26 6","pages":"609-620"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13154234/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147971139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}