Hereditas最新文献

{"title":"Comprehensive analysis to identify pseudogenes/lncRNAs-hsa-miR-200b-3p-COL5A2 network as a prognostic biomarker in gastric cancer.","authors":"Peiyuan Li,&nbsp;Wenbin Ji,&nbsp;Zhiwang Wei,&nbsp;Xiulan Wang,&nbsp;Gangjie Qiao,&nbsp;Chao Gao,&nbsp;Yifan Wang,&nbsp;Feng Qi","doi":"10.1186/s41065-022-00257-6","DOIUrl":"https://doi.org/10.1186/s41065-022-00257-6","url":null,"abstract":"<p><strong>Objective: </strong>Gastric cancer is one of the most common and deadly types of cancer. The molecular mechanism of gastric cancer progression remains unclear.</p><p><strong>Materials and methods: </strong>Four hub genes were identified through GEO and TCGA database screening and analysis. Prognostic analysis revealed that COL5A2 was the most likely to affect the prognosis of gastric cancer among the four hub genes. The relationships between COL5A2 and clinical variables and immune cell infiltration were analyzed. Then, COL5A2 was analyzed for single-gene differences and related functional enrichment. Using the starBase database for prediction and analysis, miRNAs and pseudogenes/lncRNAs that might combine with COL5A2 were identified; thus, the ceRNA network was constructed. Finally, the network was verified by Cox analysis and qPCR, and a nomogram was constructed.</p><p><strong>Results: </strong>First, we found that COL5A2, COL12A1, BGN and THBS2 were highly expressed in gastric cancer. COL5A2 had statistical significance in overall survival (OS), disease-specific survival (DSS), and progression-free interval (PFI) analysis. Immune infiltration analysis suggested that COL5A2 might influence the changes in the tumor immune microenvironment. The StarBase database was used to predict that 3 pseudogenes and 7 lncRNAs might inhibit the hsa-miR-200b-3p-COL5A2 axis in gastric cancer. The pseudogenes/lncRNA-hsa-miR-200b-3p-COL5A2 ceRNA network was identified and verified using Cox regression analysis and PCR. Finally, we constructed a nomogram.</p><p><strong>Conclusions: </strong>We elucidated the regulatory role of the pseudogenes/lncRNA-hsa-miR-200b-3p-COL5A2 network in gastric cancer progression and constructed a nomogram. These studies may provide effective treatments and potential prognostic biomarkers for gastric cancer.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"159 1","pages":"43"},"PeriodicalIF":2.7,"publicationDate":"2022-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9706917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10327207","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":"Screening of ulcerative colitis biomarkers and potential pathways based on weighted gene co-expression network, machine learning and ceRNA hypothesis.","authors":"Ying Li,&nbsp;Mengyao Tang,&nbsp;Feng Jun Zhang,&nbsp;Yihan Huang,&nbsp;Jing Zhang,&nbsp;Junqi Li,&nbsp;Yunpeng Wang,&nbsp;Jinguang Yang,&nbsp;Shu Zhu","doi":"10.1186/s41065-022-00259-4","DOIUrl":"https://doi.org/10.1186/s41065-022-00259-4","url":null,"abstract":"<p><strong>Background: </strong>Ulcerative colitis (UC) refers to an intractable intestinal inflammatory disease. Its increasing incidence rate imposes a huge burden on patients and society. The UC etiology has not been determined, so screening potential biomarkers is critical to preventing disease progression and selecting optimal therapeutic strategies more effectively.</p><p><strong>Methods: </strong>The microarray datasets of intestinal mucosal biopsy of UC patients were selected from the GEO database, and integrated with R language to screen differentially expressed genes and draw proteins interaction network diagrams. GO, KEGG, DO and GSEA enrichment analyses were performed to explore their biological functions. Through machine learning and WGCNA analysis, targets that can be used as UC potential biomarkers are screened out. ROC curves were drawn to verify the reliability of the results and predicted the mechanism of marker genes from the aspects of immune cell infiltration, co-expression analysis, and competitive endogenous network (ceRNA).</p><p><strong>Results: </strong>Two datasets GSE75214 and GSE87466 were integrated for screening, and a total of 107 differentially expressed genes were obtained. They were mainly related to biological functions such as humoral immune response and inflammatory response. Further screened out five marker genes, and found that they were associated with M0 macrophages, quiescent mast cells, M2 macrophages, and activated NK cells in terms of immune cell infiltration. The co-expression network found significant co-expression relationships between 54 miRNAs and 5 marker genes. According to the ceRNA hypothesis, NEAT1-miR-342-3p/miR-650-SLC6A14, NEAT1-miR-650-IRAK3, and XIST-miR-342-3p-IRAK3 axes were found as potential regulatory pathways in UC.</p><p><strong>Conclusion: </strong>This study screened out five biomarkers that can be used for the diagnosis and treatment of UC, namely SLC6A14, TIMP1, IRAK3, HMGCS2, and APOBEC3B. Confirmed that they play a role in the occurrence and development of UC at the level of immune infiltration, and proposed a potential RNA regulatory pathway that controls the progression of UC.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":" ","pages":"42"},"PeriodicalIF":2.7,"publicationDate":"2022-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9685902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40702859","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":"Profiling ATM regulated genes in Drosophila at physiological condition and after ionizing radiation.","authors":"Jun Liu,&nbsp;Tianyu Jin,&nbsp;Lanxi Ran,&nbsp;Ze Zhao,&nbsp;Rui Zhu,&nbsp;Gangcai Xie,&nbsp;Xiaolin Bi","doi":"10.1186/s41065-022-00254-9","DOIUrl":"https://doi.org/10.1186/s41065-022-00254-9","url":null,"abstract":"<p><strong>Background: </strong>ATM (ataxia-telangiectasia mutated) protein kinase is highly conserved in metazoan, and plays a critical role at DNA damage response, oxidative stress, metabolic stress, immunity, RNA biogenesis etc. Systemic profiling of ATM regulated genes, including protein-coding genes, miRNAs, and long non-coding RNAs, will greatly improve our understanding of ATM functions and its regulation.  RESULTS: 1) differentially expressed protein-coding genes, miRNAs, and long non-coding RNAs in atm mutated flies were identified at physiological condition and after X-ray irradiation. 2) functions of differentially expressed genes in atm mutated flies, regardless of protein-coding genes or non-coding RNAs, are closely related with metabolic process, immune response, DNA damage response or oxidative stress. 3) these phenomena are persistent after irradiation. 4) there is a cross-talk regulation towards miRNAs by ATM, E2f1, and p53 during development and after irradiation. 5) knock-out flies or knock-down flies of most irradiation-induced miRNAs were sensitive to ionizing radiation.</p><p><strong>Conclusions: </strong>We provide a valuable resource of protein-coding genes, miRNAs, and long non-coding RNAs, for understanding ATM functions and regulations. Our work provides the new evidence of inter-dependence among ATM-E2F1-p53 for the regulation of miRNAs.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":" ","pages":"41"},"PeriodicalIF":2.7,"publicationDate":"2022-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9587650/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40563358","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":"Integrative analyses of genes related to liver ischemia reperfusion injury.","authors":"Hang-Pin Wang,&nbsp;Chu-Hong Chen,&nbsp;Ben-Kai Wei,&nbsp;Ying-Lei Miao,&nbsp;Han-Fei Huang,&nbsp;Zhong Zeng","doi":"10.1186/s41065-022-00255-8","DOIUrl":"https://doi.org/10.1186/s41065-022-00255-8","url":null,"abstract":"<p><strong>Background: </strong>Liver ischemia reperfusion injury (LIRI) is not only a common injury during liver transplantation and major hepatic surgery, but also one of the primary factors that affect the outcome of postoperative diseases. However, there are still no reliable ways to tackle the problem. Our study aimed to find some characteristic genes associated with immune infiltration that affect LIRI, which can provide some insights for future research in the future. Therefore, it is essential for the treatment of LIRI, the elucidation of the mechanisms of LIRI, and exploring the potential biomarkers. Efficient microarray and bioinformatics analyses can promote the understanding of the molecular mechanisms of disease occurrence and development.</p><p><strong>Method: </strong>Data from GSE151648 were downloaded from GEO data sets, and we performed a comprehensive analysis of the differential expression, biological functions and interactions of LIRI-associated genes. Then we performed Gene ontology (GO) analysis and Kyotoencydlopedia of genes and genomes (KEGG) enrichment analysis of DEGs. At last, we performed a protein-protein interaction network to screen out hub genes.</p><p><strong>Results: </strong>A total of 161 differentially expressed genes (DEGs) were identified. GO analysis results revealed that the changes in the modules were mostly enriched in the neutrophil degranulation, neutrophil activation involved in immune response, and neutrophil mediated immunity. KEGG enrichment analysis of DEGs demonstrated that LIRI mainly involved the cytokine-cytokine receptor interaction. Our data indicated that macrophages and neutrophils are closely related to LIRI. 9 hub genes were screened out in the protein-protein interaction network.</p><p><strong>Conclusions: </strong>In summary, our data indicated that neutrophil degranulation, neutrophil activation involved in immune response, neutrophil mediated immunity and cytokine-cytokine receptor interaction may play a key role in LIRI, HRH1, LRP2, P2RY6, PKD1L1, SLC8A3 and TNFRSF8, which were identified as potential biomarkers in the occurrence and development of LIRI. However, further studies are needed to validate these findings and explore the molecular mechanism of these biomarkers in LIRI.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":" ","pages":"39"},"PeriodicalIF":2.7,"publicationDate":"2022-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40250738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel chromatin regulator-related immune checkpoint related gene prognostic signature and potential candidate drugs for endometrial cancer patients.","authors":"Zesi Liu,&nbsp;Hongxia Yang,&nbsp;Ziyu Chen,&nbsp;Chunli Jing","doi":"10.1186/s41065-022-00253-w","DOIUrl":"https://doi.org/10.1186/s41065-022-00253-w","url":null,"abstract":"<p><strong>Background: </strong>Endometrial cancer (EC) is the most common gynecologic malignancy in developed countries and its prevalence is increasing. As an emerging therapy with a promising efficacy, immunotherapy has been extensively applied in the treatment of solid tumors. In addition, chromatin regulators (CRs), as essential upstream regulators of epigenetics, play a significant role in tumorigenesis and cancer development.</p><p><strong>Methods: </strong>CRs and immune checkpoint-related genes (ICRGs) were obtained from the previous top research. The Genome Cancer Atlas (TCGA) was utilized to acquire the mRNA expression and clinical information of patients with EC. Correlation analysis was utilized for screen CRs-related ICRGs (CRRICRGs). By Cox regression and least absolute shrinkage and selection operator (LASSO) analysis, prognosis related CRRICRGs were screened out and risk model was constructed. The Kaplan-Meier curve was used to estimate the prognosis between high- and low-risk group. By comparing the IC50 value, the drugs sensitivity difference was explored. We obtained small molecule drugs for the treatment of UCEC patients based on CAMP dataset.</p><p><strong>Results: </strong>We successfully constructed a 9 CRRICRs-based prognostic signature for patients with UCEC and found the riskscore was an independent prognostic factor. The results of functional analysis suggested that CRRICRGs may be involved in immune processes associated with cancer. Immune characteristics analysis provided further evidence that the CRRICRGs-based model was correlated with immune cells infiltration and immune checkpoint. Eight small molecule drugs that may be effective for the treatment of UCEC patients were screened. Effective drugs identified by drug sensitivity profiling in high- and low-risk groups.</p><p><strong>Conclusion: </strong>In summary, our study provided novel insights into the function of CRRICRGs in UCEC. We also developed a reliable prognostic panel for the survival of patients with UCEC.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":" ","pages":"40"},"PeriodicalIF":2.7,"publicationDate":"2022-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578220/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40396486","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":"Bioinformatics analysis of diagnostic biomarkers for Alzheimer's disease in peripheral blood based on sex differences and support vector machine algorithm.","authors":"Wencan Ji,&nbsp;Ke An,&nbsp;Canjun Wang,&nbsp;Shaohua Wang","doi":"10.1186/s41065-022-00252-x","DOIUrl":"https://doi.org/10.1186/s41065-022-00252-x","url":null,"abstract":"<p><strong>Background: </strong>The prevalence of Alzheimer's disease (AD) varies based on gender. Due to the lack of early stage biomarkers, most of them are diagnosed at the terminal stage. This study aimed to explore sex-specific signaling pathways and identify diagnostic biomarkers of AD.</p><p><strong>Methods: </strong>Microarray dataset for blood was obtained from the Gene Expression Omnibus (GEO) database of GSE63060 to conduct differentially expressed genes (DEGs) analysis by R software limma. Gene Ontology (GO) analysis, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis and Gene set enrichment analysis (GSEA) were conducted. Immune checkpoint gene expression was compared between females and males. Using CytoHubba, we identified hub genes in a protein-protein interaction network (PPI). Then, we evaluated their distinct effectiveness using unsupervised hierarchical clustering. Support vector machine (SVM) and ten-fold cross-validation were used to further verify these biomarkers. Lastly, we confirmed our findings by using another independent dataset.</p><p><strong>Results: </strong>A total of 37 female-specific DEGs and 27 male-specific DEGs were identified from GSE63060 datasets. Analyses of enrichment showed that female-specific DEGs primarily focused on energy metabolism, while male-specific DEGs mostly involved in immune regulation. Three immune-checkpoint-relevant genes dysregulated in males. In females, however, these eight genes were not differentially expressed. SNRPG, RPS27A, COX7A2, ATP5PO, LSM3, COX7C, PFDN5, HINT1, PSMA6, RPS3A and RPL31 were regarded as hub genes for females, while SNRPG, RPL31, COX7C, RPS27A, RPL35A, RPS3A, RPS20 and PFDN5 were regarded as hub genes for males. Thirteen hub genes mentioned above was significantly lower in both AD and mild cognitive impairment (MCI). The diagnostic model of 15-marker panel (13 hub genes with sex and age) was developed. Both the training dataset and the independent validation dataset have area under the curve (AUC) with a high value (0.919, 95%CI 0.901-0.929 and 0.803, 95%CI 0.789-0.826). Based on GSEA for hub genes, they were associated with some aspects of AD pathogenesis.</p><p><strong>Conclusion: </strong>DEGs in males and females contribute differently to AD pathogenesis. Algorithms combining blood-based biomarkers may improve AD diagnostic accuracy, but large validation studies are needed.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":" ","pages":"38"},"PeriodicalIF":2.7,"publicationDate":"2022-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9531459/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33488577","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":"CCR5 as a prognostic biomarker correlated with immune infiltrates in head and neck squamous cell carcinoma by bioinformatic study.","authors":"Chunhong Li,&nbsp;Shanlin Chen,&nbsp;Chuanyu Liu,&nbsp;Chune Mo,&nbsp;Weiwei Gong,&nbsp;Jiahua Hu,&nbsp;Min He,&nbsp;Lei Xie,&nbsp;Xianliang Hou,&nbsp;Jianhong Tang,&nbsp;Minglin Ou","doi":"10.1186/s41065-022-00251-y","DOIUrl":"https://doi.org/10.1186/s41065-022-00251-y","url":null,"abstract":"<p><strong>Background: </strong>C-C chemokine receptor 5 (CCR5) has recently been recognized as an underlying therapeutic target for various malignancies. However, the association of CCR5 with prognosis in the head and neck squamous cell carcinoma (HNSC) patients and tumor-infiltrating lymphocytes (TILs) is unclear.</p><p><strong>Methods: </strong>In the current experiment, methods such as the Tumor Immune Estimation Resource Analysis (TIMER), Gene Expression Profiling Interactive Analysis (GEPIA), UALCAN, and Kaplan-Meier plotter Analysis were used to comprehensively evaluate the expression of CCR5 in human various malignancies and the clinical prognosis in HNSC patients. Subsequently, we used the TIMER database and the TISIDB platform to investigate the correlation between CCR5 expression levels and immune cell infiltration in the HNSC tumor microenvironment. Furthermore, immunomodulatory and chemokine profiling were performed using the TISIDB platform to analyse the correlation between CCR5 expression levels and immunomodulation in HNSC patients.</p><p><strong>Results: </strong>We found that CCR5 expression in HNSC tumor tissues was significantly upregulated than in normal tissues. In HNSC, patients with high CCR5 expression levels had worse overall survival (OS, HR = 0.59, p = 0.00015) and worse recurrence-free survival (RFS, HR = 3.27, p = 0.00098). Upregulation of CCR5 expression is closely associated with immunomodulators, chemokines, and infiltrating levels of CD4+ T cells, neutrophils, macrophages, and myeloid dendritic cells. Furthermore, upregulated CCR5 was significantly associated with different immune markers in the immune cell subsets of HNSC.</p><p><strong>Conclusions: </strong>High expression of CCR5 plays an important prognostic role in HNSC patients and may serve as a prognostic biomarker correlated with immune infiltration, and further studies are still needed to investigate therapeutic targeting HNSC patients in the future.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":" ","pages":"37"},"PeriodicalIF":2.7,"publicationDate":"2022-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513963/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40377803","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 tubulointerstitial genes and ceRNA networks involved in diabetic nephropathy via integrated bioinformatics approaches.","authors":"Haiyan Cao,&nbsp;Xiaosheng Rao,&nbsp;Junya Jia,&nbsp;Tiekun Yan,&nbsp;Dong Li","doi":"10.1186/s41065-022-00249-6","DOIUrl":"https://doi.org/10.1186/s41065-022-00249-6","url":null,"abstract":"<p><strong>Background: </strong>Diabetic nephropathy (DN) is the major cause of end-stage renal disease worldwide. The mechanism of tubulointerstitial lesions in DN is not fully elucidated. This article aims to identify novel genes and clarify the molecular mechanisms for the progression of DN through integrated bioinformatics approaches.</p><p><strong>Method: </strong>We downloaded microarray datasets from Gene Expression Omnibus (GEO) database and identified the differentially expressed genes (DEGs). Enrichment analyses, construction of Protein-protein interaction (PPI) network, and visualization of the co-expressed network between mRNAs and microRNAs (miRNAs) were performed. Additionally, we validated the expression of hub genes and analyzed the Receiver Operating Characteristic (ROC) curve in another GEO dataset. Clinical analysis and ceRNA networks were further analyzed.</p><p><strong>Results: </strong>Totally 463 DEGs were identified, and enrichment analyses demonstrated that extracellular matrix structural constituents, regulation of immune effector process, positive regulation of cytokine production, phagosome, and complement and coagulation cascades were the major enriched pathways in DN. Three hub genes (CD53, CSF2RB, and LAPTM5) were obtained, and their expression levels were validated by GEO datasets. Pearson analysis showed that these genes were negatively correlated with the glomerular filtration rate (GFR). After literature searching, the ceRNA networks among circRNAs/IncRNAs, miRNAs, and mRNAs were constructed. The predicted RNA pathway of NEAT1/XIST-hsa-miR-155-5p/hsa-miR-486-5p-CSF2RB provides an important perspective and insights into the molecular mechanism of DN.</p><p><strong>Conclusion: </strong>In conclusion, we identified three genes, namely CD53, CSF2RB, and LAPTM5, as hub genes of tubulointerstitial lesions in DN. They may be closely related to the pathogenesis of DN and the predicted RNA regulatory pathway of NEAT1/XIST-hsa-miR-155-5p/hsa-miR-486-5p-CSF2RB presents a biomarker axis to the occurrence and development of DN.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":" ","pages":"36"},"PeriodicalIF":2.7,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9511769/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33494044","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":"miR-31-5p from placental and peripheral blood exosomes is a potential biomarker to diagnose preeclampsia.","authors":"Gang Zou,&nbsp;Qingfang Ji,&nbsp;Zixiang Geng,&nbsp;Xiling Du,&nbsp;Lingyan Jiang,&nbsp;Te Liu","doi":"10.1186/s41065-022-00250-z","DOIUrl":"https://doi.org/10.1186/s41065-022-00250-z","url":null,"abstract":"<p><strong>Background: </strong>Preeclampsia, a multisystem disorder of unknown etiology, is one of the leading causes of maternal and perinatal morbidity and mortality. Identifying sensitive, noninvasive markers can aid its prevention and improve prognosis. microRNAs (miRs), which function as negative regulators of gene expression, are closely related to preeclampsia occurrence and development. Herein we investigated the relationship between the DLK1-Dio3 imprinted miR cluster derived from placental and peripheral blood exosomes of pregnant women with preeclampsia and routine clinical diagnostic indicators, and also determined its potential as a noninvasive diagnostic marker.</p><p><strong>Methods: </strong>Exosomes were extracted from the placenta and peripheral blood of pregnant women with preeclampsia.</p><p><strong>Results: </strong>qPCR data indicated that the expression level of miRs, such as miR-134, miR-31-5p, miR-655, miR-412, miR-539, miR-409, and miR-496, in pregnant women with preeclampsia was significantly lower than that in healthy controls; miR-31-5p expression was the most different. Gene ontology analysis predicted that genes negatively regulated by miR-31-5p were mainly enriched in cellular entity, cellular process, and binding; moreover, Kyoto Encyclopedia of Genes and Genomes pathway analyses indicated that genes were involved in gonadotropin-releasing hormone receptor pathway and other signaling pathways. Correlation analysis revealed that miR-31-5p was significantly negatively correlated with clinical indicators of preeclampsia, such as systolic and diastolic pressure, lactate dehydrogenase, and proteinuria.</p><p><strong>Conclusion: </strong>We believe that exosome-derived miR-31-5p can serve as an effective and sensitive biomarker to determine the course of preeclampsia in pregnant women.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":" ","pages":"35"},"PeriodicalIF":2.7,"publicationDate":"2022-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9484067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40371372","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":"An artificial neural network model based on autophagy-related genes in childhood systemic lupus erythematosus.","authors":"Jinting Wu,&nbsp;Wenxian Yang,&nbsp;Huihui Li","doi":"10.1186/s41065-022-00248-7","DOIUrl":"https://doi.org/10.1186/s41065-022-00248-7","url":null,"abstract":"<p><strong>Background: </strong>Childhood systemic lupus erythematosus (cSLE) is a multisystemic, life-threatening autoimmune disease. Compared to adults, SLE in childhood is more active, can cause multisystem involvement including renal, neurological and hematological, and can cause cumulative damage across systems more rapidly. Autophagy, one of the core functions of cells, is involved in almost every process of the immune response and has been shown to be associated with many autoimmune diseases, being a key factor in the interplay between innate and adaptive immunity. Autophagy influences the onset, progression and severity of SLE. This paper identifies new biomarkers for the diagnosis and treatment of childhood SLE based on an artificial neural network of autophagy-related genes.</p><p><strong>Methods: </strong>We downloaded dataset GSE100163 from the Gene Expression Omnibus database and used Protein-protein Interaction Network (PPI) and Least Absolute Shrinkage and Selection Operator (LASSO) to screen the signature genes of autophagy-related genes in cSLE. A new artificial neural network model for cSLE diagnosis was constructed using the signature genes. The predictive efficiency of the model was also validated using the dataset GSE65391. Finally, \"CIBERSORT\" was used to calculate the infiltration of immune cells in cSLE and to analyze the relationship between the signature genes and the infiltration of immune cells.</p><p><strong>Results: </strong>We identified 37 autophagy-related genes that differed in cSLE and normal samples, and finally obtained the seven most relevant signature genes for cSLE (DDIT3, GNB2L1, CTSD, HSPA8, ULK1, DNAJB1, CANX) by PPI and LASOO regression screening, and constructed an artificial neural network diagnostic model for cSLE. Using this model, we plotted the ROC curves for the training and validation group diagnoses with the area under the curve of 0.976 and 0.783, respectively. Finally, we performed immunoassays on cSLE samples, and the results showed that Plasma cells, Macrophages M0, Dendritic cells activated and Neutrophils were significantly infiltrated in cSLE.</p><p><strong>Conclusion: </strong>We constructed an artificial neural network diagnostic model of seven autophagy-related genes that can be used for the diagnosis of cSLE. Meanwhile, the characteristic genes affect the immune infiltration of cSLE, which may provide new perspectives for the exploration of cSLE treatment and related mechanisms.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":" ","pages":"34"},"PeriodicalIF":2.7,"publicationDate":"2022-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9479435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40364863","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}