Human Gene最新文献

{"title":"Network-based meta-analysis of gene expression reveals novel prognostic biomarkers for the progression of hepatocellular carcinoma from non-alcoholic fatty liver disease","authors":"Subhajit Ghosh,&nbsp;Ritobhas Datta,&nbsp;Subarna Thakur","doi":"10.1016/j.humgen.2024.201357","DOIUrl":"10.1016/j.humgen.2024.201357","url":null,"abstract":"<div><div>Liver steatosis, also known as non-alcoholic fatty liver disease (NAFLD), is a condition marked by the buildup of fat in the liver. It is frequently linked to obesity, diabetes, and other risk factors such as hypertension, dyslipidemia, and a sedentary lifestyle. It has the potential to progress to non-alcoholic steatohepatitis (NASH), a condition characterized by liver inflammation and fibrosis. Without intervention, NASH can progress, eventually resulting in cirrhosis and, ultimately, hepatocellular carcinoma (HCC). Gaining a greater understanding of the molecular pathways that drive the progression of the disease could facilitate the development of more effective prognostic and monitoring tools. This study utilized a network-based methodology to do a meta-analysis on a large set of gene expression data from three studies, following the guidelines outlined by PRISMA. A study network was created, and differential gene expression (DGE) analysis was conducted to compare disease states. The common differentially expressed genes (DEGs) were identified, and mutual information network analysis unveiled associations among genes such as <em>COL1A1</em>, <em>COL1A2</em>, <em>C8B</em>, and <em>AAMP</em> across several stages. Further, GO and KEGG analyses identified 23 genes, and 21 pathways linked to fatty acid metabolism, inflammation, insulin signaling, cell cycle regulation, growth, apoptosis, and angiogenesis. Furthermore, the Gene Set Enrichment Analysis (GSEA) revealed that there were enriched transcriptional events in pathways such as Nucleotide Excision Repair, Type 2 Diabetes Mellitus, Cell Cycle, and Apoptosis. Nine prognostic genes, namely <em>PGM2L1</em>, <em>ADA</em>, <em>INF2</em>, <em>COL1A1</em>, <em>RPL18A</em>, <em>SLC25A6</em>, <em>SLC39A7</em>, <em>TXN</em>, and <em>ALDH1A1</em>, were identified using the Kaplan-Meier technique in survival analysis. The survival prediction probability was evaluated using regularization regression approaches- LASSO, Ridge, and Elastic-Net. The analysis of the tissue-specific expression data revealed notable expression of <em>SLC39A7</em>, <em>SLC25A6</em>, <em>ALDH1A1</em>, and <em>INF2</em> in liver hepatocytes. The mutational data indicates alterations in the <em>COL1A1</em>, <em>SLC39A1</em>, <em>INF2</em>, <em>RPL18A</em>, and <em>SLC25A6</em> genes in cases of hepatocellular carcinoma.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"42 ","pages":"Article 201357"},"PeriodicalIF":0.5,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142703177","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":"Revealing key proteins in comparison of tumor and para-tumor tissues in stage I esophageal squamous cell carcinoma: A combined gene expression clustering and protein interaction network analysis","authors":"Maede Bakhshi Valilou ,&nbsp;Mostafa Rezaei-Tavirani ,&nbsp;Masoumeh Farahani","doi":"10.1016/j.humgen.2024.201355","DOIUrl":"10.1016/j.humgen.2024.201355","url":null,"abstract":"<div><div>Esophageal Squamous Cell Carcinoma (ESCC) which is diagnosed in advanced stages and metastasis to the vital organs, remained the sixth fatal malignancy among other types of cancer-related death. Considering the lack of specific clinical symptoms in the early development of the disease, finding suitable biomarkers and tissue-specific alterations for effective screening of ESCC is targeted in this project. Gene expression profiles of tumor tissue and para-tumors of stage I ESCC patients were retrieved from the Gene Expression Omnibus (GEO) database. The significant tissue-specific differentially expressed genes (DEGs) were identified and studied based on fold change distribution and the functional role of genes in the action map. A total number of 11,483 significant DEGs discriminated the tumor tissue from para-tumor tissue. Clustering analysis of significant DEGs led to identifying 220 DEGs as the final significant genes. Protein interaction network and action map analysis of the final gene list showed matrix metallopeptidase-9 (MMP9) as the critical gene related to the development of ESCC diseases in stage I. Significant expression change of MMP9 in esophageal carcinoma was validated in UALCAN (The University of Alabama at Birmingham Cancer Data Analysis Portal). This study highlighted the pivotal role of MMP9 in combination with SPP1, MMP13, and IL18 as a possible biomarkers panel in studies of tumor invasion and prognosis for stage I ESCC disease.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"42 ","pages":"Article 201355"},"PeriodicalIF":0.5,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142658163","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":"CRISPR/Cas and artificial intelligence to improve precision medicine: Future perspectives and potential limitations","authors":"Mohadeseh Khoshandam ,&nbsp;Hossein Soltaninejad ,&nbsp;Saman Hosseinkhani ,&nbsp;Zohreh Saltanatpour ,&nbsp;Mohammad Taghi Hedayati Goudarzi ,&nbsp;Amir Ali Hamidieh","doi":"10.1016/j.humgen.2024.201356","DOIUrl":"10.1016/j.humgen.2024.201356","url":null,"abstract":"<div><div>The CRISPR/Cas9 genome editing system is a unique and new technology that allows genetics and medical researchers to modify or edit parts of the genome. This is achieved by deleting, inserting, or changing parts of the DNA sequence. Currently, this method is considered the simplest, most widely used, and most accurate method of genetic manipulation. The system holds great potential for treating a wide range of genetic diseases. However, further research is necessary to determine the advantages and disadvantages of the CRISPR system and to establish best practices. On the other hand, individual patient treatment is a primary goal in the medical field. This goal has proven elusive due to a complex set of factors affecting disease and health. Recent advancements in enabling technologies that promote personalized and precision medicine are highlighted in this work. Artificial intelligence, which simulates human intelligence for computers, is utilized in the interface of machines programmed to think and behave like humans. This review article summarizes recent developments in the fields of artificial intelligence (AI) and CRISPR/Cas9, examining clinical trials and potential advancements in precision and personalized medicine, cancer treatment, and current/future challenges. Specifically, the application of AI in modifying the CRISPR/Cas9 system is emphasized.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"42 ","pages":"Article 201356"},"PeriodicalIF":0.5,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142658318","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":"The CD244 rs3766379 variant showed no association with susceptibility to rheumatoid arthritis while soluble CD244 was associated with disease activity","authors":"Noor T. Kadhim,&nbsp;Abdul Kareem A. Alkazaz","doi":"10.1016/j.humgen.2024.201354","DOIUrl":"10.1016/j.humgen.2024.201354","url":null,"abstract":"<div><div>Cluster of differentiation 244 (CD244), a member of the signaling lymphocytic activation molecule (SLAM) family, is one of the major cell surface receptors of the SLAM family with activating and inhibitory signaling potentials that is involved in the functional regulation of inflammatory reactions. It has recently been suggested that soluble CD244 levels are dysregulated in patients with rheumatoid arthritis (RA), but the evidence is not conclusive. Furthermore, the <em>CD244</em> rs3766379 variant showed conflicting results regarding association with disease susceptibility. In this cross-sectional case-control study, serum CD244 concentration was determined in 123 RA patients and 60 controls using an enzyme-linked immunosorbent assay kit. The <em>CD244</em> rs3766379 variant was also genotyped using real-time polymerase chain reaction principles. Results revealed that Log₁₀-transformed serum concentrations (mean ± standard error) of soluble CD244 were significantly elevated in RA patients compared to controls (0.53 ± 0.04 vs. 0.29 ± 0.02 ng/mL; probability = 0.003), especially in patients with high disease activity (0.73 ± 0.12 vs. 0.29 ± 0.02 ng/mL; probability = 0.003), where CD244 showed reliable discrimination between patients and controls (area under the curve = 0.698; probability = 0.023). The rs3766379 allele and genotype frequencies showed no significant differences between patients and controls. Furthermore, this variant did not affect CD244 concentration. In conclusion, CD244 levels were up-regulated in the serum of patients with RA, particularly those with high disease activity. The <em>CD244</em> rs3766379 variant was not associated with susceptibility to RA and had no effect on serum CD244 concentration.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"42 ","pages":"Article 201354"},"PeriodicalIF":0.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142578759","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":"The potential of the NLRC4 Inflammasome as a Cancer biomarker: A Pan-cancer investigation","authors":"Subhadip Das,&nbsp;Debarghya Bhattacharyya,&nbsp;Md. Arshad,&nbsp;Chittabrata Mal","doi":"10.1016/j.humgen.2024.201351","DOIUrl":"10.1016/j.humgen.2024.201351","url":null,"abstract":"<div><h3>Background</h3><div>The innate immune response, crucial for detecting microbial threats, relies on pattern recognition receptors like NLRC4 (NOD-like receptor family CARD domain-containing protein 4). NLRC4 triggers inflammasome assembly upon detecting bacterial flagellin and needle protein, releasing pro-inflammatory cytokines. Recent research emphasizes NLRC4 inflammasomes' role in malignancies, indicating their impact on cancer progression and immune regulation.</div></div><div><h3>Methods</h3><div>To comprehensively investigate the genetic variability, therapeutic implications, and biological relevance of NLRC4 across human cancers, we conducted a pan-cancer analysis utilizing diverse bioinformatics tools including different omics data. These tools included GEPIA, Kaplan-Meier Plotter, cBioPortal, TIMER2.0, Enrichr, Human Protein Atlas, IID, MuTarget Analysis, MAGIC, TargetScan, and CTD. Our analysis aimed to elucidate NLRC4 expression patterns, survival outcomes, pathway enrichment, regulatory mechanisms, and associations with genetic alterations and immune infiltration in various cancer subtypes.</div></div><div><h3>Results</h3><div>Our findings revealed a widespread upregulation of NLRC4 expression in 19 out of 31 major human cancer subtypes, with significant correlations observed with overall survival (OS) in SARC and THCA, and relapse-free survival (RFS) in HNSC, KIRP, and PAAD. Enrichment analyses identified intricate connections between NLRC4-associated genes and diverse biological pathways. Additionally, miRNAs, hub genes, and transcription factors regulating NLRC4 emerged as key players in cancer pathogenesis.</div></div><div><h3>Conclusions</h3><div>Our study highlights NLRC4's potential as a pan-cancer biomarker and therapy focus in human cancers. Associations with survival outcomes, pathways, and regulatory networks illuminate NLRC4's multifaceted cancer role, urging a deeper investigation into its mechanisms and therapeutic potential for patient benefit.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"42 ","pages":"Article 201351"},"PeriodicalIF":0.5,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142553688","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":"Molecular role of miR-152-3p, miR-296-5p and miR-185-5p in urinary bladder cancer etiology","authors":"Tariq Rahim ,&nbsp;Summan Aslam ,&nbsp;Aamir Sohail ,&nbsp;Muhammad Jawad Khan","doi":"10.1016/j.humgen.2024.201353","DOIUrl":"10.1016/j.humgen.2024.201353","url":null,"abstract":"<div><div>Bladder cancer is the tenth most common type of cancer worldwide. The lack of better diagnostic methods and effective treatments make it highly lethal. However, miRNAs are emerging as critical elements in diagnosing various diseases, especially cancers. Therefore, in the pursuit of improved diagnostic tools, this review aims to assess miRNAs interacting with their target genes in bladder cancer and evaluate the most significant miRNAs based on their molecular roles. After analyzing the literature and using several <em>in-silico</em> tools (<em>e.g.</em>, miRWalk, miRDB, miRTarBase, TargetScan), we found that three miRNAs (miR-152-3p, miR-296-5p, miR-185-5p) out of a total of 1468 miRNAs were highly associated with bladder cancer, targeting three important genes: <em>FGFR3</em>, <em>PTEN</em> and <em>PMF1</em>. These three miRNAs may potentially serve as a panel for the diagnosis of bladder cancer after validation through extensive <em>in-vitro</em> and <em>in-vivo</em> studies. Moreover, these miRNAs could also be considered for therapeutic intervention against bladder cancer, following proper validation through <em>in vivo</em> studies.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"42 ","pages":"Article 201353"},"PeriodicalIF":0.5,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142560793","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":"Plasma expression and bioinformatic analysis of Mir-16, Mir-132, Mir-146 and Mir-223 in patients with rheumatoid arthritis","authors":"Hala M. Raslan ,&nbsp;Hanan Abd Elmawgoud Atia ,&nbsp;Sherein Saeid Elshaer ,&nbsp;Shaimaa M. Sabry ,&nbsp;Yasmin Mosaad Mohammed ,&nbsp;Khalda S. Amr","doi":"10.1016/j.humgen.2024.201352","DOIUrl":"10.1016/j.humgen.2024.201352","url":null,"abstract":"<div><h3>Background</h3><div>MicroRNAs (miRNAs) are involved in the pathogenesis of rheumatoid arthritis (RA) through modulating gene expression.</div></div><div><h3>Aim</h3><div>To assess the plasma expression of miR-16, miR-132, miR-146 and miR-223 in patients with RA and their relation to activity and severity of the disease and their potential value as biomarkers. Through bioinformatics study we aimed to determine the predictor target genes of the studied miRNAs to clarify their role in RA pathogenesis.</div></div><div><h3>Methods</h3><div>The study comprised 73 patients suffering from RA and 50 healthy individuals. We used the disease activity score-28 (DAS-28) to assess disease activity. Joint damage was assessed by Kaarela and Kautiainen modification of Larsen scale. Anti-anticyclic citrullinated peptide (anti-CCP) antibodies, serum high sensitive C reactive protein (hsCRP) and rheumatoid factor (RF) were assayed by ELISA. Plasma miR-223, miR-146a, miR-16 and miR-132 were quantified by qRT-PCR followed by a simple dry laboratory analysis of the involved target genes of the studied miRNAs in RA pathogenesis by KEGG pathways.</div></div><div><h3>Results</h3><div>In comparison to controls, RA patients showed overexpressed miR-146a, miR-223and miR-16, while miR-132 was down-regulated. Additionally, miR-146a correlated positively with DAS28, anti-CCP antibodies and RF. Bioinformatics revealed that the predicted targeted genes of miR-146a, miR-16, miR-223 and miR-132 are potential contributing factors for RA pathogenesis and bone degradation.</div></div><div><h3>Conclusion</h3><div>miR-146a, miR-223, miR-16 and miR-132 may be potential non-invasive molecular biomarkers for RA diagnosis. Plasma miR-146a might be considered as potential biomarker for disease activity. The predicted genes targeted by miR-146a, miR-223, miR-16 and miR-132 are implicated in RA pathogenesis and ultimately can be used in future target therapeutic approach.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"42 ","pages":"Article 201352"},"PeriodicalIF":0.5,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142553689","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":"Impact of 5-HTTLPR of SLC6A4 on migraine susceptibility: A meta-analysis with trial sequential analysis","authors":"Amrit Sudershan ,&nbsp;Hardeep Kumar ,&nbsp;Sandeepa Bailam ,&nbsp;Rakesh K. Panjaliya ,&nbsp;Parvinder Kumar","doi":"10.1016/j.humgen.2024.201347","DOIUrl":"10.1016/j.humgen.2024.201347","url":null,"abstract":"<div><h3>Background</h3><div>Migraine disorder is a complicated condition for which a large number of genetic variants determine susceptibility. The 5-HTTLPR of the <em>SLC6A4</em> gene is one of these genetic variations, and it is hypothesized that it plays a role in defining the susceptibility to the disease.</div></div><div><h3>Aim</h3><div>Therefore, through the utilization of the meta-analysis methodology, the current investigation aimed to determine whether or not there is an association between the 5-HTTLPR and the likelihood of developing migraines.</div></div><div><h3>Method</h3><div>The present study utilizes the PRISMA guideline to review existing literature from the electronic database to perform pooled analysis, and also includes quality assessment, association analysis, publication bias, and heterogeneity analysis using the NOS tool, OR with 95 % CI, tests of Begg's with Egger's test, and χ2 based on Cochran's Q Test with I² tests respectively.</div></div><div><h3>Result</h3><div>Using a systematic literature review, we found 14 studies representing 2972 participants, with 1276 cases diagnosed with migraine and 1696 serving as controls. It was observed that after utilizing multiple genetic models only allele (1.14 [1.01–1.29], <em>p</em>-value = 0.025) and recessive model (1.24 [1.01–152], p-value = 0.03), in contrast to other genetic models were found to be significantly associated with overall migraine but not with MA and MWA.</div></div><div><h3>Discussion &amp; conclusion</h3><div>In conclusion, according to the allele and recessive model, the current investigation revealed a statistically significant relationship between 5-HTTLPR and the likelihood of developing migraines.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"42 ","pages":"Article 201347"},"PeriodicalIF":0.5,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142658165","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":"Detection and validity of long non-coding RNAs HOST2, HOTAIR, HOXA-AS2, and MALAT1 as biomarkers for hepatocellular carcinoma","authors":"Marwa Mohammed Ibrahim Mohammed Khalil ,&nbsp;Randa Mohamed Seddik ,&nbsp;Manal Monir Mansour ,&nbsp;Hany Abdelbary Abdelaziz Elbasuony ,&nbsp;Sara A. El Derbaly","doi":"10.1016/j.humgen.2024.201349","DOIUrl":"10.1016/j.humgen.2024.201349","url":null,"abstract":"<div><h3>Background</h3><div>Hepatocellular carcinoma (HCC) is one of the most common cancers in the world. Long noncoding RNAs (lncRNAs) could contribute significantly to HCC development through diverse mechanisms, such as the recruitment of many regulatory protein complexes. This study aimed to evaluate the expression levels of the lncRNAs HOST2, HOTAIR, HOXA-AS2, and MALAT1 in liver cirrhosis and HCC and also assess their diagnostic performance as biomarkers for HCC.</div></div><div><h3>Methods</h3><div>In total, 180 participants were in this study, classified into three groups (60 participants in each): Group I (hepatocellular carcinoma patients), Group II (liver cirrhosis patients), and Group III (apparently healthy individuals). The expressions of the HOST2, HOTAIR, HOXA-AS2, and MALAT1 lncRNAs were detected using a reverse-transcriptase real-time polymerase chain reaction (qRT-PCR).</div></div><div><h3>Results</h3><div>The expression levels of HOST2, HOTAIR, HOXA-AS2, and MALAT1 lncRNAs were markedly increased in the HCC patients compared with those in the cirrhotic patients and controls. They also exhibited greater sensitivity as diagnostic biomarkers than alpha-fetoprotein.</div></div><div><h3>Conclusions</h3><div>The HOTAIR, HOST2, HOXA-AS2, and MALAT1 lncRNAs exhibit promising potential as valuable diagnostic biomarkers of HCC and in differentiating HCC from liver cirrhosis. Furthermore, combining alpha-fetoprotein can yield higher accuracy.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"42 ","pages":"Article 201349"},"PeriodicalIF":0.5,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142536243","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":"Quantitative detection of miR-25 for early diagnosis, postoperative assessment and TNM staging of pancreatic cancer","authors":"Xiao Xu ,&nbsp;Xinju Zhang ,&nbsp;Xuan Deng ,&nbsp;Fuzhi Sheng ,&nbsp;Guojun Cao ,&nbsp;Deliang Fu ,&nbsp;Ming Guan","doi":"10.1016/j.humgen.2024.201350","DOIUrl":"10.1016/j.humgen.2024.201350","url":null,"abstract":"<div><div>Objectives: Pancreatic cancer is one of the most common malignant tumors of the digestive tract. Due to its strong concealment and rapid disease progress, it is characterized by high mortality and low cure rate. Current research focuses on screening high-risk populations, preventing the occurrence of pancreatic cancer and developing imaging technology and tumor markers for early diagnosis. This study aimed to investigate the absolute quantitative detection of microRNA-25 (miR-25) and reveal its quantitative changes in the treatment of pancreatic cancer. We compared serum miR-25 level between pancreatic cancer patients and other tumor patients, especially those with gastrointestinal cancer, to provide further evidence for early diagnosis, differential diagnosis and prognosis of pancreatic cancer. Methods: We collected serum samples from 51 pancreatic cancer patients (including 21 patients with preoperative and postoperative samples), 52 pancreatitis patients, 141 other tumor patients, and 50 healthy individuals from Huashan Hospital, Fudan University. The serum levels of miR-25, Carbohydrate Antigen 19–9 (CA19–9), Carbohydrate Antigen 125 (CA125) and Carcinoembryonic Antigen (CEA) in these populations were measured to analyze the value of miR-25 quantitative detection in the diagnosis, postoperative assessment and Tumor Node Metastasis (TNM) staging of pancreatic cancer. Results: Among the 51 pancreatic cancer patients, 50 cases (98.04 %) showed miR-25 levels above the threshold (3333 copies/μl), while all samples in normal group showed negative. The mean level of miR-25 in serum was 5707.45 ± 361.02 copies/μl. In other tumor groups, 21/141 (14.89 %) patients showed positive results and the mean miR-25 level was 847.09 ± 125.97 copies/μl. Comparing before and after operation in 21 paired samples, the level of miR-25 declined significantly after operation, with an average decline rate of 86.36 %. Conclusions: Serum miR-25 levels were significantly higher in pancreatic cancer patients compared to both normal and other tumor groups and decreased significantly after surgery. In addition, miR-25 showed higher sensitivity than common tumor markers (CA19–9, CA125, CEA) in early diagnosis of pancreatic cancer, and proved to be of significant value in evaluating the effect of surgical treatment.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"42 ","pages":"Article 201350"},"PeriodicalIF":0.5,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142536242","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}