Oligonucleotide Array Sequence Analysis

寡核苷酸序列分析
  • 文章类型: Journal Article
    黄芪(AM,Huángqí)和大白术(洛杉矶,báizhú)揭示了在减轻膝骨关节炎(KOA)的发作和进展方面的显着疗效,尽管有一种难以捉摸的机械理解。本研究通过利用全面的中药(TCM)网络数据库,描述了AM-LA协同作用中的主要生物活性成分及其分子靶标。包括TCMSP,TCMID,和ETCM。此外,对3个基因表达数据集的分析,来自基因表达综合数据库,促进了与KOA相关的差异基因的鉴定。将这些发现与来自5个主要数据库的数据相结合,得出了与KOA相关的目标的完善列表,随后将其与对应于AM和LA治疗的基因签名进行比对。通过这种对齐,阐明了与AM-LA治疗轴相关的特定分子靶标.蛋白质相互作用网络的构建,利用KOA病理学和AM-LA干预之间的共同遗传标记,通过CytoNCA插件促进的拓扑分析,能够识别关键分子靶标。随后的GO和KEGG富集分析促进了整体草药成分靶标网络和核心靶标信号通路网络的发展。采用分子对接技术来验证AM-LA复合物中5个中心分子靶标与其相应活性化合物之间的相互作用。我们的研究结果表明,AM-LA组合调节关键的生物过程,包括细胞活动,活性氧改性,代谢调节,和全身免疫的激活。通过增强或减弱关键的信号通路,如MAPK,钙,和PI3K/AKT通路,AM-LAdyad协调对免疫炎症反应的综合调节作用,细胞增殖,分化,凋亡,和抗氧化防御,为KOA管理提供了一种新的治疗途径。这项研究,以基因表达综合基因芯片分析和网络药理学为基础,提高了我们对控制AM和LA对KOA进展的抑制作用的分子基础的理解,为今后探索中医药治疗KOA的有效成分和机制途径奠定基础。
    Investigations into the therapeutic potential of Astragalus Mongholicus (AM, huáng qí) and Largehead Atractylodes (LA, bái zhú) reveal significant efficacy in mitigating the onset and progression of knee osteoarthritis (KOA), albeit with an elusive mechanistic understanding. This study delineates the primary bioactive constituents and their molecular targets within the AM-LA synergy by harnessing the comprehensive Traditional Chinese Medicine (TCM) network databases, including TCMSP, TCMID, and ETCM. Furthermore, an analysis of 3 gene expression datasets, sourced from the gene expression omnibus database, facilitated the identification of differential genes associated with KOA. Integrating these findings with data from 5 predominant databases yielded a refined list of KOA-associated targets, which were subsequently aligned with the gene signatures corresponding to AM and LA treatment. Through this alignment, specific molecular targets pertinent to the AM-LA therapeutic axis were elucidated. The construction of a protein-protein interaction network, leveraging the shared genetic markers between KOA pathology and AM-LA intervention, enabled the identification of pivotal molecular targets via the topological analysis facilitated by CytoNCA plugins. Subsequent GO and KEGG enrichment analyses fostered the development of a holistic herbal-ingredient-target network and a core target-signal pathway network. Molecular docking techniques were employed to validate the interaction between 5 central molecular targets and their corresponding active compounds within the AM-LA complex. Our findings suggest that the AM-LA combination modulates key biological processes, including cellular activity, reactive oxygen species modification, metabolic regulation, and the activation of systemic immunity. By either augmenting or attenuating crucial signaling pathways, such as MAPK, calcium, and PI3K/AKT pathways, the AM-LA dyad orchestrates a comprehensive regulatory effect on immune-inflammatory responses, cellular proliferation, differentiation, apoptosis, and antioxidant defenses, offering a novel therapeutic avenue for KOA management. This study, underpinned by gene expression omnibus gene chip analyses and network pharmacology, advances our understanding of the molecular underpinnings governing the inhibitory effects of AM and LA on KOA progression, laying the groundwork for future explorations into the active components and mechanistic pathways of TCM in KOA treatment.
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  • 文章类型: Journal Article
    目的:大多数肝细胞癌(HCC)是肝硬化的结果。在这项研究中,我们的目标是构建一个全面的诊断模型,以研究区分肝硬化和HCC的诊断标志物.
    方法:基于包含肝硬化和HCC样本的多个GEO数据集,我们使用了套索回归,随机森林(RF)-递归特征消除(RFE)和接收器算子特征分析来筛选特征基因。随后,我们将这些基因整合到多变量逻辑回归模型中,并在训练和验证队列中验证了线性预测得分.ssGSEA算法用于估计样品中浸润免疫细胞的分数。最后,使用CCP算法对肝硬化患者进行分子分型.
    结果:该研究鉴定了137个差异表达基因(DEG),并选择了5个重要基因(CXCL14,CAP2,FCN2,CCBE1和UBE2C)来构建诊断模型。在培训和验证队列中,模型显示曲线下面积(AUC)大于0.9,κ值约为0.9。此外,校准曲线显示观察到的发病率和预测的发病率之间非常一致.相对而言,与肝硬化相比,HCC显示浸润免疫细胞的整体下调。值得注意的是,CCBE1显示出与肿瘤免疫微环境以及与细胞死亡和细胞衰老过程相关的基因的强相关性。此外,具有高线性预测评分的肝硬化亚型在多个癌症相关通路中富集.
    结论:结论:我们成功鉴定了区分肝硬化和肝细胞癌的诊断标记物,并开发了区分这两种情况的新型诊断模型.CCBE1可能在调节肿瘤微环境中发挥关键作用,细胞死亡和衰老。
    OBJECTIVE: Most cases of hepatocellular carcinoma (HCC) arise as a consequence of cirrhosis. In this study, our objective is to construct a comprehensive diagnostic model that investigates the diagnostic markers distinguishing between cirrhosis and HCC.
    METHODS: Based on multiple GEO datasets containing cirrhosis and HCC samples, we used lasso regression, random forest (RF)-recursive feature elimination (RFE) and receiver operator characteristic analysis to screen for characteristic genes. Subsequently, we integrated these genes into a multivariable logistic regression model and validated the linear prediction scores in both training and validation cohorts. The ssGSEA algorithm was used to estimate the fraction of infiltrating immune cells in the samples. Finally, molecular typing for patients with cirrhosis was performed using the CCP algorithm.
    RESULTS: The study identified 137 differentially expressed genes (DEGs) and selected five significant genes (CXCL14, CAP2, FCN2, CCBE1 and UBE2C) to construct a diagnostic model. In both the training and validation cohorts, the model exhibited an area under the curve (AUC) greater than 0.9 and a kappa value of approximately 0.9. Additionally, the calibration curve demonstrated excellent concordance between observed and predicted incidence rates. Comparatively, HCC displayed overall downregulation of infiltrating immune cells compared to cirrhosis. Notably, CCBE1 showed strong correlations with the tumour immune microenvironment as well as genes associated with cell death and cellular ageing processes. Furthermore, cirrhosis subtypes with high linear predictive scores were enriched in multiple cancer-related pathways.
    CONCLUSIONS: In conclusion, we successfully identified diagnostic markers distinguishing between cirrhosis and hepatocellular carcinoma and developed a novel diagnostic model for discriminating the two conditions. CCBE1 might exert a pivotal role in regulating the tumour microenvironment, cell death and senescence.
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  • 文章类型: Journal Article
    目的:评价参术冠心颗粒的临床疗效和安全性(,SGR)在治疗中度冠状动脉病变(ICL)患者中,并通过转录组测序方法研究潜在的机制。
    方法:采用ICL气虚痰瘀证患者,按随机数字发生器1:1随机比例随机分为病例组和对照组,评价临床疗效。
    结果:两组干预前后冠状动脉CT造影相关指标比较差异无统计学意义。通过基因芯片表达分析,最后得出结论,与SGR组和安慰剂组相比,有355个差异mRNA(190个上调基因和165个下调基因)。通过差异表达基因的蛋白质-蛋白质相互作用网络分析,最终获得10个hub基因:CACNA2D2、CACNA2D3、DNAJC6、FGF12、SGSM2、CACNA1G、LRP6,KIF25,OXTR,UPB1。
    结论:SGR联合西药治疗气虚痰瘀型ICL患者是安全的。提出了可能的作用机制及相关基因位点和通路。
    OBJECTIVE: To evaluate the clinical efficacy and safety of Shenzhu Guanxin recipe granules (, SGR) in treating patients with intermediate coronary lesions (ICL), and to investigate the potential mechanism though a transcriptome sequencing approach.
    METHODS: ICL patients with Qi deficiency and phlegm stasis were adopted and randomly assigned to a case group or a control by random number generator in a 1:1 randomization ratio to evaluate the clinical efficacy.
    RESULTS: There was no significant difference between the two groups in coronary computed tomography angiography related indexes in the two groups before and after intervention. Through the gene chip expression analysis, it is finally concluded that there are 355 differential mRNAs (190 up-regulated genes and 165 down regulated genes) when compared the SGR group and placebo group. Through protein-protein interaction network analysis of differentially expressed genes, 10 hub genes were finally obtained: CACNA2D2, CACNA2D3, DNAJC6, FGF12, SGSM2, CACNA1G, LRP6, KIF25, OXTR, UPB1.
    CONCLUSIONS: SGR combined with Western Medicine can be safely used to treat ICL patients with Qi deficiency and phlegm stasis. The possible mechanism of action and relevant gene loci and pathway were proposed.
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  • 文章类型: Journal Article
    Gene chip is a high-throughput technique for detecting specific DNA sequences by DNA or DNA-RNA complementary hybridization, among which SNP genotyping chips have been widely employed in the animal genetics and breeding, and have made great achievements in cattle (Bos taurus), pigs (Sus scrofa), sheep (Caprinae), chickens (Gallus gallus) and other livestock. However, genomic selection applied in production merely uses genomic information and cannot fully explain the molecular mechanism of complex traits genetics, which limits the accuracy of genomic selection. With the continuous progresses in epigenetic research, the development of commercial methylation chips and the application of the epigenome-wide association study (EWAS), DNA methylation has been extensively used to draw the causal connections between genetics and phenotypes. In the future, it is hopefully expected to develop methylation chips customized for livestock and poultry and explore methylation sites significantly related to economic traits of livestock and poultry through EWAS thereby extending the understanding of causal variation of complex traits. Combining methylation chips and SNP chips, we can capture the epigenomic and genomic information of livestock and poultry, interpret genetic variation more precisely, improve the accuracy of genome selection, and promote the fine evolution of molecular genetic breeding of livestock and poultry. In this review, we summarize the application of SNP chips and depict the prospects of the application of methylation chips in livestock and poultry. This review will provide valuable insights for further application of gene chips in farm animal breeding.
    基因芯片是一种通过DNA双链或DNA-RNA互补杂交检测特定DNA序列的高通量技术,其中SNP基因分型芯片已经广泛用于畜禽的遗传育种工作,在牛(Bos taurus)、猪(Sus scrofa)、羊(Caprinae)、鸡(Gallus gallus)等畜禽中取得了重大成就。但是在实际生产中使用的基因组选择仅利用了基因组信息,无法完全解释复杂性状的分子遗传基础,限制了基因组选择的准确性。随着表观遗传学研究的不断深入、商用甲基化芯片的推出、表观基因组关联分析(epigenome-wide association study,EWAS)的提出,DNA甲基化已被广泛用于解释遗传与表型的因果关系。未来,有望开发专门针对畜禽的甲基化芯片,通过EWAS探索与畜禽经济性状显著相关的甲基化位点,深化对复杂性状因果变异的理解。结合甲基化芯片与SNP芯片捕获畜禽表观基因组和基因组信息,更准确地解读遗传变异,提高基因组选择的准确性,推动畜禽分子遗传育种工作的精细化发展。本文综述了SNP芯片在畜禽上的应用,并对甲基化芯片在畜禽上的应用进行了展望,以期为基因芯片在动物育种中的进一步应用提供借鉴和参考。.
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  • 文章类型: Journal Article
    OBJECTIVE: Abnormal immune system activation and inflammation are crucial in causing Parkinson\'s disease. However, we still don\'t fully understand how certain immune-related genes contribute to the disease\'s development and progression. This study aims to screen key immune-related gene in Parkinson\'s disease based on weighted gene co-expression network analysis (WGCNA) and machine learning.
    METHODS: This study downloaded the gene chip data from the Gene Expression Omnibus (GEO) database, and used WGCNA to screen out important gene modules related to Parkinson\'s disease. Genes from important modules were exported and a Venn diagram of important Parkinson\'s disease-related genes and immune-related genes was drawn to screen out immune related genes of Parkinson\'s disease. Gene ontology (GO) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) were used to analyze the the functions of immune-related genes and signaling pathways involved. Immune cell infiltration analysis was performed using the CIBERSORT package of R language. Using bioinformatics method and 3 machine learning methods [least absolute shrinkage and selection operator (LASSO) regression, random forest (RF), and support vector machine (SVM)], the immune-related genes of Parkinson\'s disease were further screened. A Venn diagram of differentially expressed genes screened using the 4 methods was drawn with the intersection gene being hub nodes (hub) gene. The downstream proteins of the Parkinson\'s disease hub gene was identified through the STRING database and a protein-protein interaction network diagram was drawn.
    RESULTS: A total of 218 immune genes related to Parkinson\'s disease were identified, including 45 upregulated genes and 50 downregulated genes. Enrichment analysis showed that the 218 genes were mainly enriched in immune system response to foreign substances and viral infection pathways. The results of immune infiltration analysis showed that the infiltration percentages of CD4+ T cells, NK cells, CD8+ T cells, and B cells were higher in the samples of Parkinson\'s disease patients, while resting NK cells and resting CD4+ T cells were significantly infiltrated in the samples of Parkinson\'s disease patients. ANK1 was screened out as the hub gene. The analysis of the protein-protein interaction network showed that the ANK1 translated and expressed 11 proteins which mainly participated in functions such as signal transduction, iron homeostasis regulation, and immune system activation.
    CONCLUSIONS: This study identifies the Parkinson\'s disease immune-related key gene ANK1 via WGCNA and machine learning methods, suggesting its potential as a candidate therapeutic target for Parkinson\'s disease.
    目的: 在帕金森病的发病过程中,免疫系统的异常激活和炎症反应起着重要作用。然而,目前对于免疫相关关键基因在帕金森病发生和发展中的具体作用和作用机制的了解仍然有限。本研究旨在通过加权基因共表达网络分析(weighted gene co-expression network analysis,WGCNA)和机器学习筛选帕金森病免疫相关关键基因。方法: 从基因表达综合(Gene Expression Omnibus,GEO)数据库下载基因芯片数据,采用WGCNA筛选出与帕金森病相关的重要基因模块;将重要模块中的基因导出,绘制帕金森病重要相关基因与免疫相关基因的韦恩图,从而筛选出帕金森病免疫相关基因。采用基因本体(gene ontology,GO)分析和京都基因和基因组百科全书(Kyoto Encyclopedia of Genes and Genomes,KEGG)深入分析免疫相关基因的功能及参与的信号通路。通过R语言的CIBERSORT包进行免疫细胞浸润分析。采用生物信息学方法和3种机器学习方法[最小绝对收缩和选择算子(least absolute shrinkage and selection operator,LASSO)回归、随机森林(random forest,RF)和支持向量机(support vector machine,SVM)]对筛选出的帕金森病免疫相关基因进行进一步筛选研究,绘制4种方法筛选的差异表达基因的韦恩图,筛选交集基因即中心节点(hub node,hub)基因。通过STRING数据库搜索帕金森病hub基因的下游蛋白质,绘制蛋白质互作网络图。结果: 筛选出帕金森病重要模块基因中与免疫相关的基因218个,其中45个为上调基因,50个为下调基因。富集分析结果显示218个基因主要在免疫系统对外来物反应和病毒感染通路富集。免疫浸润分析结果表明,CD4+ T细胞、NK细胞、CD8+ T细胞、B细胞在帕金森病患者样本中的浸润百分率较高,静息NK细胞、静息CD4+ T细胞在帕金森病患者样本中显著浸润。4种方法筛选出的hub基因为ANK1基因。交集基因蛋白质互作网络分析结果显示,ANK1基因翻译表达的11个蛋白质主要参与信号转导、铁稳态调节及免疫系统激活等功能。结论: 通过WGCNA和机器学习方法,筛选出帕金森病免疫相关关键基因ANK1,该基因可能成为帕金森病诊断和治疗的候选靶点。.
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  • 文章类型: Journal Article
    目的:本研究旨在探索斑块易损性的潜在枢纽基因和通路,并探讨急性冠脉综合征(ACS)的可能治疗靶点。
    结果:从基因表达综合(GEO)数据库下载四个微阵列数据集。差异表达基因(DEGs),加权基因共表达网络(WGCNA)和免疫细胞干预分析(IIA)用于鉴定斑块易损性的基因。然后,京都基因和基因组百科全书(KEGG)途径富集,疾病本体论,进行基因本体注释和蛋白质-蛋白质相互作用(PPI)网络分析以探索枢纽基因。构建了随机森林和人工神经网络进行验证。此外,CMap和Herb数据库用于探索可能的治疗靶点.在GSE62646中鉴定了总共168个具有调整的P<0.05的DEGs和约1974个IIA基因。检测到三个模块,并与CAD-Class相关联,包括可以在GSE90074中找到的891个基因。删除重复项后,114个hub基因用于功能分析。GO功能确定157个项目,并在调整后的P<0.05(错误发现率,FDR设置为<0.05)。基于GSE48060和GSE34822数据集建立随机森林和人工神经网络模型,分别,来验证之前的hub基因。五个基因(GZMA,GZMB,选择KLRB1,KLRD1和TRPM6),在CMap和Herb数据库中仅筛选了其中两个(GZMA和GZMB)作为治疗靶标。
    结论:我们进行了全面分析,并验证了GZMA和GZMB作为斑块易损性的目标,这为ACS的预防提供了治疗策略。然而,它是否可以用作血液样本的预测因子还需要进一步的实验验证。
    OBJECTIVE: This study aimed to explore potential hub genes and pathways of plaque vulnerability and to investigate possible therapeutic targets for acute coronary syndrome (ACS).
    RESULTS: Four microarray datasets were downloaded from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs), weighted gene coexpression networks (WGCNA) and immune cell infiltration analysis (IIA) were used to identify the genes for plaque vulnerability. Then, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment, Disease Ontology, Gene Ontology annotation and protein-protein interaction (PPI) network analyses were performed to explore the hub genes. Random forest and artificial neural networks were constructed for validation. Furthermore, the CMap and Herb databases were employed to explore possible therapeutic targets. A total of 168 DEGs with an adjusted P < 0.05 and approximately 1974 IIA genes were identified in GSE62646. Three modules were detected and associated with CAD-Class, including 891 genes that can be found in GSE90074. After removing duplicates, 114 hub genes were used for functional analysis. GO functions identified 157 items, and 6 pathways were enriched for the KEGG pathway at adjusted P < 0.05 (false discovery rate, FDR set at < 0.05). Random forest and artificial neural network models were built based on the GSE48060 and GSE34822 datasets, respectively, to validate the previous hub genes. Five genes (GZMA, GZMB, KLRB1, KLRD1 and TRPM6) were selected, and only two of them (GZMA and GZMB) were screened as therapeutic targets in the CMap and Herb databases.
    CONCLUSIONS: We performed a comprehensive analysis and validated GZMA and GZMB as a target for plaque vulnerability, which provides a therapeutic strategy for the prevention of ACS. However, whether it can be used as a predictor in blood samples requires further experimental verification.
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  • 文章类型: Journal Article
    背景:中国具有数千年的山羊育种历史和丰富的山羊遗传资源。此外,海南黑山羊是我国优质地方山羊品种之一。为了保存海南黑山羊的种质资源,促进其遗传改良,进一步保护山羊的遗传多样性,开发海南黑山羊单核苷酸多态性(SNP)芯片已成为当务之急。
    结果:在这项研究中,我们旨在通过液体捕获靶标(cGPS)的精确定位测序,基于基因分型设计海南黑山羊的10K液体芯片。共获得45,588个候选SNP位点,选择了10,677个具有代表性的SNP位点来设计探针,最终覆盖了9993个间隔,形成了海南黑山羊10KcGPS液体芯片。为了验证10KcGPS液体芯片,选择了一些南方山羊品种和与海南黑山羊表型相似的绵羊品种。共使用104个样品验证了10KcGPS液体芯片对海南黑山羊的聚类能力。结果表明,该部位检出率为97.34%~99.93%。84.5%的SNP位点具有多态性。杂合率为3.08%~36.80%。超过99.4%位点的深度超过10倍。重复率为99.66%-99.82%。cGPS液体芯片结果与重测序结果的平均一致性为85.58%。此外,系统进化树聚类分析验证了芯片上的SNP位点具有较好的聚类能力。
    结论:这些结果表明,我们已经成功实现了海南黑山羊10KcGPS液体芯片的开发和验证,为海南黑山羊的基因组分析提供了有用的工具。此外,10KcGPS液体芯片有利于海南黑山羊种质资源的研究和保护,为其后续育种工作奠定了坚实的基础。
    BACKGROUND: China has thousands years of goat breeding and abundant goat genetic resources. Additionally, the Hainan black goat is one of the high-quality local goat breeds in China. In order to conserve the germplasm resources of the Hainan black goat, facilitate its genetic improvement and further protect the genetic diversity of goats, it is urgent to develop a single nucleotide polymorphism (SNP) chip for Hainan black goat.
    RESULTS: In this study, we aimed to design a 10K liquid chip for Hainan black goat based on genotyping by pinpoint sequencing of liquid captured targets (cGPS). A total of 45,588 candidate SNP sites were obtained, 10,677 of which representative SNP sites were selected to design probes, which finally covered 9,993 intervals and formed a 10K cGPS liquid chip for Hainan black goat. To verify the 10K cGPS liquid chip, some southern Chinese goat breeds and a sheep breed with similar phenotype to the Hainan black goat were selected. A total of 104 samples were used to verify the clustering ability of the 10K cGPS liquid chip for Hainan black goat. The results showed that the detection rate of sites was 97.34% -99.93%. 84.5% of SNP sites were polymorphic. The heterozygosity rate was 3.08%-36.80%. The depth of more than 99.4% sites was above 10X. The repetition rate was 99.66%-99.82%. The average consistency between cGPS liquid chip results and resequencing results was 85.58%. In addition, the phylogenetic tree clustering analysis verified that the SNP sites on the chip had better clustering ability.
    CONCLUSIONS: These results indicate that we have successfully realized the development and verification of the 10K cGPS liquid chip for Hainan black goat, which provides a useful tool for the genome analysis of Hainan black goat. Moreover, the 10K cGPS liquid chip is conducive to the research and protection of Hainan black goat germplasm resources and lays a solid foundation for its subsequent breeding work.
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  • 文章类型: Journal Article
    本研究的目的是使用基因芯片数据筛选PCOS中差异表达的基因,并研究这些DEGs在PCOS中的生物学功能。此外,本研究旨在利用临床数据分析这些基因的潜在临床意义。在这项研究中,我们首先利用GEO数据库的基因芯片数据(GSE5090)筛选与PCOS相关的DEGs。靶基因预测软件用于预测这些DEG的靶基因,并对其功能富集进行了分析。随后,利用STRING在线工具和Cytoscape软件通过构建蛋白质-蛋白质相互作用网络(PPI)来鉴定关键基因.在对GSE5090数据集的分析中,鉴定出17个差异表达基因(DEGs)。功能富集分析表明,这些DEGs主要与多囊卵巢综合征(PCOS)相关的生物学功能有关。此外,组织特异性表达分析突出了免疫系统标志物,在这些标记中的18个中观察到显著差异,占总数的20.5%。通过构建PPI网络和关键基因调控网络,总共三个基因(RPL13,LEP,和ANXA1)被鉴定为关键基因。此外,柱线图形模型在预测PCOS风险方面表现良好.使用ROC曲线,该模型被证明是有效的诊断。这项研究代表了生物信息学方法的首次应用,以识别和确认RPL13,LEP,多囊卵巢综合征(PCOS)患者的ANXA1。这些关键基因-RPL13,LEP,和ANXA1-可能为PCOS的治疗干预提供可行的目标,强调其潜在的临床重要性。
    The purpose of this study was to screen differentially expressed genes in PCOS using gene chip data and investigate the biological functions of these DEGs in PCOS. Additionally, the study aimed to analyze the potential clinical significance of these genes using clinical data. In this study, we first screened the DEGs related to PCOS by using the gene chip data (GSE5090) from GEO database. Target gene prediction software was used to predict the target genes for these DEGs, and their functional enrichment was analysed. Subsequently, the STRING online tool and Cytoscape software were utilized to identify key genes by constructing protein-protein interaction networks (PPI). In the analysis of the GSE5090 dataset, seventeen differentially expressed genes (DEGs) were identified. Functional enrichment analysis revealed that these DEGs are predominantly associated with biological functions related to polycystic ovary syndrome (PCOS). Moreover, the tissue-specific expression analysis highlighted immune system markers, with a notable difference observed in 18 of these markers, accounting for 20.5% of the total. By constructing PPI networks and key gene regulatory networks, a total of three genes (RPL13, LEP, and ANXA1) were identified as key genes. In addition, the column-line graphical model performed well in predicting the risk of PCOS. Using ROC curves, the model proved to be effective in diagnosis. This study represents the first application of a bioinformatics approach to identify and confirm high expression levels of RPL13, LEP, and ANXA1 in patients with Polycystic Ovary Syndrome (PCOS). These key genes-RPL13, LEP, and ANXA1-may present viable targets for therapeutic interventions in PCOS, underscoring their potential clinical importance.
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  • 文章类型: Journal Article
    连锁图谱对于表型性状的遗传作图至关重要,基因图谱克隆,和标记辅助选择在育种中的应用。高质量饱和图谱的构建需要大量分子标记的高质量基因型数据。基因分型错误不能完全避免,无论使用什么平台。当基因分型错误达到阈值水平时,这将严重影响所构建图谱的准确性和后续遗传研究的可靠性。在这项研究中,对扬小迈×中优9507和京双16×百农64杂交的两个重组自交系(RIL)种群进行重复基因分型,以研究基因分型错误对连锁图谱构建的影响。两次重复之间不一致的数据点被认为是基因分型错误,分为三种类型。基因分型错误被视为缺失值,因此产生了非错误的数据集。首先,使用两个重复以及非错误数据集构建了连锁图谱。其次,在软件包QTLIciMapping(EC)和基因型校正(GC)中实施的错误校正方法被应用于两个重复实验。因此,基于校正的基因型构建连锁图,然后将其与来自非错误数据集的连锁图进行比较。通过考虑不同水平的基因分型错误来进行模拟研究,以研究错误的影响和错误校正方法的准确性。结果表明,在两个RIL群体中,两个重复和非错误数据集之间的图谱长度和标记顺序不同。对于实际和模拟种群,地图长度随着错误率的增加而扩大,连锁与物理图谱的相关系数降低。通过重复基因分型和纠错算法可以提高地图质量。当不可能重复对整个作图群体进行基因型时,在重复基因分型中推荐30%。在不同错误率下,EC方法的假阳性率远低于GC方法。本研究系统地阐述了基因分型错误对连锁分析的影响,为在存在基因分型错误的情况下提高连锁图的准确性提供潜在的指导。
    Linkage maps are essential for genetic mapping of phenotypic traits, gene map-based cloning, and marker-assisted selection in breeding applications. Construction of a high-quality saturated map requires high-quality genotypic data on a large number of molecular markers. Errors in genotyping cannot be completely avoided, no matter what platform is used. When genotyping error reaches a threshold level, it will seriously affect the accuracy of the constructed map and the reliability of consequent genetic studies. In this study, repeated genotyping of two recombinant inbred line (RIL) populations derived from crosses Yangxiaomai × Zhongyou 9507 and Jingshuang 16 × Bainong 64 was used to investigate the effect of genotyping errors on linkage map construction. Inconsistent data points between the two replications were regarded as genotyping errors, which were classified into three types. Genotyping errors were treated as missing values, and therefore the non-erroneous data set was generated. Firstly, linkage maps were constructed using the two replicates as well as the non-erroneous data set. Secondly, error correction methods implemented in software packages QTL IciMapping (EC) and Genotype-Corrector (GC) were applied to the two replicates. Linkage maps were therefore constructed based on the corrected genotypes and then compared with those from the non-erroneous data set. Simulation study was performed by considering different levels of genotyping errors to investigate the impact of errors and the accuracy of error correction methods. Results indicated that map length and marker order differed among the two replicates and the non-erroneous data sets in both RIL populations. For both actual and simulated populations, map length was expanded as the increase in error rate, and the correlation coefficient between linkage and physical maps became lower. Map quality can be improved by repeated genotyping and error correction algorithm. When it is impossible to genotype the whole mapping population repeatedly, 30% would be recommended in repeated genotyping. The EC method had a much lower false positive rate than did the GC method under different error rates. This study systematically expounded the impact of genotyping errors on linkage analysis, providing potential guidelines for improving the accuracy of linkage maps in the presence of genotyping errors.
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  • 文章类型: Journal Article
    目的:研究表明长链非编码RNA(lncRNAs)对纤维化疾病有重要贡献。尽管lncRNAs可能在烧伤后的肥厚性瘢痕中发挥作用,其机制仍然知之甚少。
    方法:使用芯片技术,我们比较了烧伤患者和健康对照(HCs)的lncRNA表达谱.通过定量逆转录聚合酶链反应(RT-PCR)检查微阵列结果以验证其可靠性。通过基因本体论(GO)和通路分析研究差异表达mRNA的生物学功能以及基因与信号通路之间的关系,分别。
    结果:与HC相比,发现2738个lncRNAs(1628个上调)和2166个mRNAs(1395个上调)在烧伤后的增生性瘢痕中差异表达。RT-PCR的结果与微阵列的结果一致。GO和通路分析显示,差异表达的mRNA主要与免疫系统中细胞因子分泌相关,陷波信号,和MAPK信号。
    结论:与HCs相比,烧伤后肥厚性瘢痕的lncRNA表达谱发生了显著变化。认为转录本可以用作抑制烧伤患者异常瘢痕形成的潜在靶标。
    OBJECTIVE: Research indicates that long noncoding RNAs (lncRNAs) contribute significantly to fibrotic diseases. Although lncRNAs may play a role in hypertrophic scars after burns, its mechanisms remain poorly understood.
    METHODS: Using chip technology, we compared the lncRNA expression profiles of burn patients and healthy controls (HCs). Microarray results were examined by quantitative reverse-transcription polymerase chain reaction (RT-PCR) to verify their reliability. The biological functions of differentially expressed mRNAs and the relationships between genes and signaling pathways were investigated by Gene Ontology (GO) and pathway analyses, respectively.
    RESULTS: In contrast with HCs, it was found that 2738 lncRNAs (1628 upregulated) and 2166 mRNAs (1395 upregulated) were differentially expressed in hypertrophic scars after burn. Results from RT-PCR were consistent with those from microarray. GO and pathway analyses revealed that the differentially expressed mRNAs are mainly associated with processes related to cytokine secretion in the immune system, notch signaling, and MAPK signaling.
    CONCLUSIONS: The lncRNA expression profiles of hypertrophic scars after burn changed significantly compared with HCs. It was believed that the transcripts could be used as potential targets for inhibiting abnormal scar formation in burn patients.
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