Human Gene最新文献_第9页

Epigenetic modifications in Bone metabolism: Exploring the link with osteoporosis 骨代谢的表观遗传修饰：探讨与骨质疏松症的联系

IF 0.5 Q4 GENETICS & HEREDITY

Human Gene

Pub Date : 2025-07-10 DOI: 10.1016/j.humgen.2025.201449

Kolawole Yusuf Suleiman , Hamidu Ahmed , Kigir Esther Solomon , Gbadebo Hakeem Ibraheem , Abdulbaki Adio Alfa-Ibrahim , Okediran Babatunde Samuel , Alhaji Zubair Jaji

Osteoporosis is a pervasive skeletal disorder characterized by diminished bone mass and structural deterioration, resulting in heightened fracture risk. While genetic predispositions and hormonal factors have been extensively studied, a significant portion of osteoporosis pathogenesis remains unexplained, necessitating a deeper exploration of the role of epigenetic modifications. This review elucidates the intricate interplay between epigenetic mechanisms, specifically DNA methylation, histone modifications, and non-coding RNAs, and bone metabolism. We discuss how these reversible modifications serve as critical regulators influenced by environmental factors, lifestyle, and age, thus representing a nexus between genetic susceptibility and external risk factors.

Emerging evidence highlights the epigenetic alterations in key genes involved in osteogenesis and osteoclastogenesis, underscoring their contributions to the development of osteoporosis. Furthermore, we explore innovative therapeutic strategies targeting these epigenetic changes, such as DNA methyltransferase inhibitors and histone deacetylase inhibitors, which offer promising routes for restoring normal bone function and providing personalized therapeutic options. The insights garnered from this review position epigenetics as a transformative frontier in osteoporosis research, with the potential to unveil novel biomarkers for early diagnosis and targeted treatment strategies. This comprehensive examination of epigenetic influences on bone health underlines the urgency for continued research in this domain, aiming to improve therapeutic outcomes and enhance overall disease management.

骨质疏松症是一种普遍的骨骼疾病，其特征是骨量减少和结构恶化，导致骨折风险增加。虽然遗传易感性和激素因素已被广泛研究，但骨质疏松症的发病机制仍有很大一部分无法解释，因此需要对表观遗传修饰的作用进行更深入的探索。这篇综述阐明了表观遗传机制，特别是DNA甲基化、组蛋白修饰和非编码rna与骨代谢之间复杂的相互作用。我们讨论了这些可逆性修饰如何作为受环境因素、生活方式和年龄影响的关键调节因子，从而代表了遗传易感性和外部风险因素之间的联系。新出现的证据强调了参与成骨和破骨细胞发生的关键基因的表观遗传改变，强调了它们对骨质疏松症的发展的贡献。此外，我们还探索了针对这些表观遗传变化的创新治疗策略，如DNA甲基转移酶抑制剂和组蛋白去乙酰化酶抑制剂，它们为恢复正常骨功能和提供个性化治疗选择提供了有希望的途径。从这篇综述中获得的见解将表观遗传学定位为骨质疏松症研究的变革前沿，有可能揭示用于早期诊断和靶向治疗策略的新型生物标志物。这项对表观遗传对骨骼健康影响的综合研究强调了在这一领域继续研究的紧迫性，旨在改善治疗结果并加强整体疾病管理。

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引用次数: 0

Integrated meta-analysis reveals circulating miRNA panel for hepatocellular carcinoma diagnosis 综合荟萃分析显示循环miRNA可用于肝细胞癌的诊断

IF 0.5 Q4 GENETICS & HEREDITY

Human Gene

Pub Date : 2025-06-30 DOI: 10.1016/j.humgen.2025.201440

Isbah Ashfaq , Naz Fatima , Nadeem Sheikh , Asima Tayyeb

Objective

HCC is the leading cause of deaths primarily in patients with liver ailment. Considering its incidence rate as global burden, efficacy of multiple drugs have changed the landscape of overall management of this disease. Recently, diagnosis based on non-invasive microRNAs has impacted the clinical outcomes of various cancers. The current study focuses on identifying potential non-invasive biomarkers for the early detection of HCC.

Methods

This research underscores the significance of a unique panel of circulating miRNAs observed at three distinct stages of liver disease: chronic hepatitis, liver cirrhosis, and HCC. The dataset, comprising microarray profiles of circulating miRNAs, was acquired from GEO repository. The DE-miRNAs and their overlapping at different stages of liver diseases were identified. The bioinformatics analyses were performed and statistical analysis was conducted to identify the significant and unique panel of circulating miRNAs.

Results

Altogether, 3 miRNAs such as hsa-miR-1290, hsa-let-7a-5p, and hsa-mir-16-5p were found with AUC ≥0.80 and P-value ≤0.05. Furthermore, pathways enrichment analysis revealed association of genes and signalling pathways.

Conclusion

In conclusion, suggested panel of circulating miRNAs may provide a potential approach for non-invasive diagnosis of HCC. These miRNAs could serve as timely indicators for detecting HCC, thereby offering a promising strategy for the effective management of this condition.

目的hcc是肝脏疾病患者死亡的主要原因。考虑到其发病率是全球负担，多种药物的疗效已经改变了这种疾病的整体管理格局。近年来，基于非侵入性microrna的诊断已经影响了各种癌症的临床结果。目前的研究重点是确定HCC早期检测的潜在非侵入性生物标志物。该研究强调了在慢性肝炎、肝硬化和HCC这三个不同阶段肝脏疾病中观察到的一组独特的循环mirna的重要性。该数据集包括循环mirna的微阵列谱，从GEO存储库获得。确定了de - mirna及其在肝脏疾病不同阶段的重叠。进行生物信息学分析，并进行统计分析，以确定显著和独特的循环mirna组。结果共检出hsa-miR-1290、hsa-let-7a-5p、hsa-mir-16-5p 3个mirna， AUC≥0.80，p值≤0.05。此外，途径富集分析揭示了基因与信号通路的关联。结论所建议的循环mirna组可能为HCC的无创诊断提供潜在的方法。这些mirna可以作为检测HCC的及时指标，从而为有效治疗HCC提供了有希望的策略。

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引用次数: 0

Unravelling colorectal cancer mechanisms: Insights from a regulatory network of ncRNAs, TFs, and mutated genes 解开结直肠癌的机制：从ncrna， tf和突变基因的调控网络的见解

IF 0.5 Q4 GENETICS & HEREDITY

Human Gene

Pub Date : 2025-06-30 DOI: 10.1016/j.humgen.2025.201447

Pankaj Kumar Tripathi, Chakresh Kumar Jain

Colorectal cancer (CRC) presents a significant challenge due to its complexity and high mortality rates, yet the precise molecular drivers remain elusive. Non-coding RNAs (ncRNAs), known for their roles in various cancers including CRC, are implicated in these intricate mechanisms. This study aimed to elucidate key regulators by constructing a regulatory network integrating CRC patient-mutated genes with transcription factors (TFs) and ncRNAs. Utilizing Onco-DB and COSMIC, we detected overexpressed genes and analyzed their mutational profiles, constructing a curated interactome network. Topological analysis identified the top ten hub genes, with five (CDK1, MYC, TOP2A, CCNA2, BRCA1) implicated in the gene regulatory network (GRN). These genes, characterized by high mutation rates, play pivotal roles in CRC tumour formation via mechanisms like gene amplification, cancer progression, proliferation, and migration. Additionally, potential TFs (SP1, E2F1, ESR1, MYC, E2F3) and miRNAs (hsa-miR-16-5p, hsa-miR-186-5p, hsa-miR-29b-3p) were identified, as a regulatory element. Additionally, the construction of the ceRNA network revealed that the 7 circRNA and 3 lncRNA collectively sponged the same miRNA “hsa-miR-16-5p”, ultimately affecting the expression of targeted mRNA BRCA1 and CDK1. This comprehensive approach sheds light on the molecular mechanisms of regulatory elements underlying CRC development, offering insights for clinical diagnosis and innovative treatment strategies.

结直肠癌（CRC）由于其复杂性和高死亡率而面临重大挑战，但精确的分子驱动因素仍然难以捉摸。非编码rna （ncRNAs）因其在包括CRC在内的各种癌症中的作用而闻名，与这些复杂的机制有关。本研究旨在通过构建整合CRC患者突变基因与转录因子（tf）和ncRNAs的调控网络来阐明关键调控因子。利用Onco-DB和COSMIC，我们检测了过表达基因并分析了它们的突变谱，构建了一个精心策划的相互作用组网络。拓扑分析确定了前10个枢纽基因，其中5个（CDK1、MYC、TOP2A、CCNA2、BRCA1）与基因调控网络（GRN）有关。这些基因以高突变率为特征，通过基因扩增、癌症进展、增殖和迁移等机制在结直肠癌肿瘤形成中发挥关键作用。此外，潜在的tf （SP1, E2F1, ESR1， MYC, E2F3）和mirna （hsa-miR-16-5p, hsa-miR-186-5p, hsa-miR-29b-3p）被鉴定为调控元件。此外，ceRNA网络的构建表明，7个circRNA和3个lncRNA共同海绵相同的miRNA“hsa-miR-16-5p”，最终影响靶向mRNA BRCA1和CDK1的表达。这种全面的方法揭示了CRC发展的分子调控机制，为临床诊断和创新治疗策略提供了见解。

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引用次数: 0

Investigation the role of ADRB2 rs1042713 and rs1042714 polymorphisms among COPD patients of West Bengal population, India ADRB2 rs1042713和rs1042714多态性在印度西孟加拉邦COPD患者中的作用研究

IF 0.5 Q4 GENETICS & HEREDITY

Human Gene

Pub Date : 2025-06-30 DOI: 10.1016/j.humgen.2025.201446

Nasima Sultana , Indranil Ganai , Saheen Sultana , Himani Adhikari , Arghya Laha , Himani Biswas , Saibal Moitra , Sanjoy Podder

Background

Chronic obstructive pulmonary disease (COPD) is a complex lung disease characterized by restricted airflow and breathing problems. β2-adrenergic receptor (β2AR) encoded by β2-adrenergic receptor gene (ADRB2) is a transmembrane receptor protein expressed in the airway smooth muscle cells and found to be associated with COPD in various populations. However, no studies were performed in any Indian population so far.

Objectives

The present study aims to investigate the association between ADRB2 polymorphisms rs1042713 and ras1042714 and COPD focusing on their expression analysis on RNA level in West Bengal population, India.

Methods

Epidemiological details including smoking status of 523 patients and 428 controls between 40 and 80 years of age was recorded in self-prepared questionnaire. Spirometry was performed to assess forced expiratory volume in 1 s/forced vital capacity (FEV₁/FVC), FEV₁ and peak expiratory flow rate. Genotyping was done by Polymerase chain reaction-Restriction fragment length polymorphism. qRT-PCR results were calculated using 2-ΔΔCq method.

Results

Genotype frequencies of rs1042713AA and rs1042714CC genotypes were significantly higher in COPD patients than controls (P = 0.02 and 0.01 respectively). Smoker patients with rs1042713AA and rs1042714CC genotypes had significantly lower FEV₁ (P < 0.0001). A linear inverse relationship was found between smoking duration and both FEV₁ and FEV₁/FVC in smoker patients (P < 0.00001). The ADRB2 mRNA expression was significantly decreased in the 46AA/79CC haplotype (P = 0.04) than 46AA/79GG, 46GG/79CC as compared with wild-type haplotype 46GG/79GG.

Conclusion

The present study is the first to report that ADRB2 polymorphisms (rs1042713 and rs1042714) are associated with COPD susceptibility through mRNA expression analysis among West Bengal population, India.

慢性阻塞性肺疾病（COPD）是一种以气流受限和呼吸问题为特征的复杂肺部疾病。由β2-肾上腺素能受体基因（ADRB2）编码的β2-肾上腺素能受体（β2AR）是一种在气道平滑肌细胞中表达的跨膜受体蛋白，在多种人群中被发现与COPD相关。然而，到目前为止，还没有在任何印度人群中进行过研究。目的探讨ADRB2基因多态性rs1042713和ras1042714与慢性阻塞性肺病的关系，重点分析其在印度西孟加拉邦人群中的RNA水平表达。方法对523例40 ~ 80岁的患者和428例对照者的吸烟状况等流行病学资料进行问卷调查。采用肺活量测定法评估1 s用力呼气量/用力肺活量（FEV1/FVC）、FEV1和呼气峰值流速。采用聚合酶链反应-限制性片段长度多态性进行基因分型。采用2-ΔΔCq方法计算qRT-PCR结果。结果COPD患者rs1042713AA和rs1042714CC基因型频率显著高于对照组（P值分别为0.02和0.01）。rs1042713AA和rs1042714CC基因型吸烟者的FEV1显著降低(P <；0.0001)。吸烟时间与吸烟者FEV1及FEV1/FVC呈线性反比关系(P <；0.00001)。46AA/79CC单倍型与野生型46GG/79GG相比，ADRB2 mRNA的表达量显著降低（P = 0.04）； 46GG/79CC单倍型与野生型46GG/79GG相比显著降低（P = 0.04）。本研究首次通过对印度西孟加拉邦人群的mRNA表达分析报道了ADRB2多态性（rs1042713和rs1042714）与COPD易感性相关。

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引用次数: 0

The relative copy number of mitochondrial DNA in peripheral blood as a prognostic marker for the development of polycystic ovarian syndrome in west Iraqi women 外周血中线粒体DNA的相对拷贝数作为西伊拉克妇女多囊卵巢综合征发展的预后标志物

IF 0.5 Q4 GENETICS & HEREDITY

Human Gene

Pub Date : 2025-06-30 DOI: 10.1016/j.humgen.2025.201442

Zaman N. Hameed , Rashied M. Rashied , Sawsan M. Kareem

Mitochondria are the primary producers of free radicals, particularly reactive oxygen species (ROS), so disruptions in mitochondrial activity at the cellular level may have an impact on overall metabolic balance, leading to the hypothesis that anomalies in mitochondrial metabolism markers may be associated with polycystic ovary syndrome (PCOS).We sought to assess mitochondrial DNA (mtDNA) copy number as an indication of mitochondrial malfunction induced by higher oxidative stress (OS) in women with PCOS, as well as, to study the independent relationship between mtDNA copy number and PCOS development. The case-control research comprised ninety women, sixty with PCOS and thirty healthy women as controls at reproductive age.

Our result revealed that women with PCOS had significantly lower mitochondrial DNA copy number compared to non-PCOS group (P = 0.000). In the PCOS group, reduce mtDNA copy number was adversely correlated with body mass index and insulin resistance indicators, Meantime, positively correlated with the quantitative insulin sensitivity check index (QUICKI) score. The Receiver operating characteristic curve (ROC) indicating the diagnostic value of mitochondrial copy number in the development of PCOS, with an area under the curve of 0.871 (0.759–0.984) at (p = 0.000) and sensitivity 89 % for parameter. Furthermore, we discovered that the relationship between PCOS and decreased mtDNA copy number is independent of other characteristics. In conclusion, according to above, reduce mtDNA copy number may be a risk factor in PCOS development in women.

线粒体是自由基，尤其是活性氧（ROS）的主要产生者，因此在细胞水平上线粒体活性的破坏可能会影响整体代谢平衡，从而导致线粒体代谢标志物异常可能与多囊卵巢综合征（PCOS）相关的假设。我们试图评估线粒体DNA （mtDNA）拷贝数作为PCOS女性较高氧化应激（OS）诱导的线粒体功能障碍的指标，并研究mtDNA拷贝数与PCOS发展之间的独立关系。病例对照研究包括90名妇女，60名多囊卵巢综合征患者和30名育龄健康妇女作为对照。我们的研究结果显示，与非PCOS组相比，PCOS女性的线粒体DNA拷贝数显著降低（P = 0.000）。PCOS组mtDNA拷贝数减少与体重指数、胰岛素抵抗指标呈负相关，与胰岛素敏感性定量检查指数（QUICKI）评分呈正相关。受试者工作特征曲线（ROC）显示线粒体拷贝数在PCOS发展中的诊断价值，曲线下面积为0.871 (0.759-0.984)(p = 0.000)，参数敏感性为89%。此外，我们发现PCOS与mtDNA拷贝数减少之间的关系是独立于其他特征的。综上所述，mtDNA拷贝数减少可能是女性PCOS发生的危险因素。

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引用次数: 0

Distinguishing between founder and host population mtDNA lineages in the Ashkenazi population 在德系犹太人群体中区分创始人群和寄主人群的mtDNA谱系

IF 0.5 Q4 GENETICS & HEREDITY

Human Gene

Pub Date : 2025-06-28 DOI: 10.1016/j.humgen.2025.201445

Joseph Livni , Karl Skorecki

The size of the founding generation of founder populations is typically small. For example, studies estimate the Ashkenazi Jewish founder generation at around 150 families. Research has suggested that only a third of the original mitochondrial DNA (mtDNA) signatures survived. Unlike isolated populations, founder groups surrounded by larger populations tend to absorb mtDNA from the host population. A prior study reported that a significant portion of Ashkenazi Jews carry mtDNA of ancient European origin, leading to the hypothesis that the female founders were primarily European, while male founders were Near Eastern.

This study presents a method to distinguish between founder and absorbed mtDNA lineages in contemporary Ashkenazi Jews. Adjusting the sample size, absorbed lineages appear as singletons, while founder lineages show multiple occurrences. Our analysis found that less than 15 % of current Ashkenazi Jews carry absorbed mtDNA, consistent with patterns seen in many founder populations, where absorbed matrilineal lineages outnumber founder ones. However, this does not support a non-Jewish European origin for the founding generation.

Given that Y-chromosome analysis already confirms a Near Eastern origin for Ashkenazi paternal lineages, we propose that both maternal and paternal lineages share a common Near Eastern ancestry. This challenges the convoluted hypothesis of a mixed origin with Near Eastern paternal and predominantly European maternal founders. Our results reinforce the genetic evidence of a unified founding population and strongly favor a straightforward model consisting of a Near Eastern origin for both maternal and paternal founding lineages,

创始人群体的创始一代的规模通常很小。例如，研究估计德系犹太人的创始一代大约有150个家庭。研究表明，只有三分之一的原始线粒体DNA （mtDNA）特征存活了下来。与孤立的种群不同，被较大种群包围的创始者群体倾向于从宿主种群吸收mtDNA。先前的一项研究报告称，很大一部分德系犹太人携带古代欧洲血统的mtDNA，这导致了女性创始人主要是欧洲人，而男性创始人则是近东人的假设。本研究提出了一种方法来区分创始人和吸收的mtDNA谱系在当代德系犹太人。调整样本量后，吸收谱系表现为单例，而创立谱系表现为多例。我们的分析发现，目前只有不到15%的德系犹太人携带被吸收的mtDNA，这与在许多创始人群体中看到的模式一致，在这些人群中，被吸收的母系血统多于创始人血统。然而，这并不支持非犹太人的欧洲血统。鉴于y染色体分析已经证实了德系犹太人父系的近东起源，我们提出母系和父系都有共同的近东祖先。这挑战了一个复杂的假设，即一个由近东父亲和主要是欧洲母亲组成的混合起源。我们的研究结果加强了统一的创始人群的遗传证据，并强烈支持一个直接的模型，包括母亲和父亲的创始谱系的近东起源。

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引用次数: 0

Influence of metformin on the expression of SESTRIN2, Nrf2, and TUG1 genes in the liver tissue of diabetic rats 二甲双胍对糖尿病大鼠肝组织中SESTRIN2、Nrf2、TUG1基因表达的影响

IF 0.5 Q4 GENETICS & HEREDITY

Human Gene

Pub Date : 2025-06-26 DOI: 10.1016/j.humgen.2025.201434

Roya Zanganeh , Hamed Fanaei , Anis saadatmand , Ali dashtkar , Mohsen Saravani

Background

This study, focusing on the role of metformin in reducing oxidative stress, examined the effects of this drug on the expression of stress-related genes SESTRIN2, Nrf2, and TUG1 in the liver of diabetic rats.

Methods

Animals (n = 30) were divided into four groups: a control group (C), a control group treated with metformin (400 mg/kg/day) (C + M), a diabetic group (D), and a diabetic group treated with metformin (D + M) (400 mg/kg/day). Streptozotocin (STZ) was injected to induce diabetes. Serum levels of fasting blood glucose (FBG), triglycerides (TG), LDL-cholesterol (LDL-C), HDL-cholesterol (HDLC), total cholesterol (TC), and insulin were measured. Gene expression was assessed using the RT-PCR technique.

Results

The expression levels of Nrf2 and SESTRIN2 were decreased in group D compared to groups C and C + M but were not statistically significant (p > 0.05). However, the expression of Nrf2 and SESTRIN2 was increased in group D + M compared to group D, but only for Nrf2 was it significant (p = 0.0164). In addition, the expression of Nrf2 was significantly increased in group D + M compared to group C (p = 0.0299). The expression of TUG1 was increased in group D compared to group C, while the D + M group (1.36 ± 0.43) showed a decrease in TUG1 expression compared to group D (3 ± 1.64), which was not statistically significant. In addition, MET reduced the insulin resistance index, FBG, and lipid profile in the D + M group compared to the D group.

Discussion

Metformin suppresses oxidative stress by activating antioxidant pathways through increasing NRF2 gene expression, thereby improving diabetes and playing a protective role in the liver.

本研究以二甲双胍为研究对象，研究了二甲双胍对糖尿病大鼠肝脏应激相关基因SESTRIN2、Nrf2和TUG1表达的影响。方法30只动物分为4组：对照组(C)、二甲双胍（400 mg/kg/ D）治疗组（C + M）、糖尿病组(D)和糖尿病组（D + M）治疗组（400 mg/kg/ D）。注射链脲佐菌素（STZ）诱导糖尿病。测定空腹血糖（FBG）、甘油三酯（TG）、低密度脂蛋白胆固醇（LDL-C）、高密度脂蛋白胆固醇（HDLC）、总胆固醇（TC）、胰岛素水平。采用RT-PCR技术检测基因表达。结果D组Nrf2、SESTRIN2表达水平较C、C + M组降低，但差异无统计学意义(p >；0.05)。D + M组Nrf2和SESTRIN2的表达较D组增加，但只有Nrf2表达显著（p = 0.0164）。与C组相比，D + M组Nrf2的表达显著升高（p = 0.0299）。D组TUG1表达较C组升高，D + M组TUG1表达（1.36±0.43）较D组（3±1.64）降低，差异无统计学意义。此外，与D组相比，MET降低了D + M组的胰岛素抵抗指数、FBG和血脂。讨论二甲双胍通过增加NRF2基因表达激活抗氧化途径抑制氧化应激，从而改善糖尿病，对肝脏起到保护作用。

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引用次数: 0

miR-151 in health and disease: A comprehensive review of its implications in Cancer, diabetes, and more miR-151在健康和疾病中的作用：对其在癌症、糖尿病等疾病中的意义的全面综述

IF 0.5 Q4 GENETICS & HEREDITY

Human Gene

Pub Date : 2025-06-26 DOI: 10.1016/j.humgen.2025.201443

Pourya Ahmadi , Fatemeh Eizadifard , Parsa Pahlavan , Majid Tafrihi

Background

MicroRNAs (miRNAs) are key post-transcriptional regulators involved in numerous physiological and pathological processes.

Purpose

This review focuses on miR-151, a functionally versatile miRNA, and synthesizes current evidence regarding its involvement across a spectrum of human diseases.

Main findings

miR-151 has been shown to play a dual role as both an oncogene and a tumor suppressor, depending on the cellular context and disease type. Its dysregulation has been implicated in the development and progression of various conditions, including multiple cancers, diabetes, osteoarthritis, cardiovascular disorders, intracranial aneurysms, and male infertility. Through modulation of target genes and signaling pathways, miR-151 influences cell proliferation, migration, apoptosis, and epithelial–mesenchymal transition. Importantly, its tissue-specific expression and regulatory dynamics underscore its potential as a diagnostic biomarker and therapeutic target.

Conclusion

By compiling and analyzing current research, this review aims to clarify the multifaceted roles of miR-151 in disease pathogenesis and to encourage further studies that may support its translational application in precision medicine.

micrornas （miRNAs）是参与许多生理和病理过程的关键转录后调控因子。目的：本文综述了miR-151这一功能多样的miRNA，并综合了目前关于其参与一系列人类疾病的证据。主要发现smir -151已被证明在细胞环境和疾病类型上发挥致癌基因和肿瘤抑制基因的双重作用。它的失调与多种疾病的发生和发展有关，包括多种癌症、糖尿病、骨关节炎、心血管疾病、颅内动脉瘤和男性不育症。通过调控靶基因和信号通路，miR-151影响细胞增殖、迁移、凋亡和上皮-间质转化。重要的是，其组织特异性表达和调控动态强调了其作为诊断生物标志物和治疗靶点的潜力。通过对现有研究的整理和分析，本文旨在阐明miR-151在疾病发病机制中的多方面作用，并鼓励进一步的研究，以支持其在精准医学中的转化应用。

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引用次数: 0

Potential of micro-RNAs 193a-3p, 378-3p, 210-3p, and 362-3p as serum biomarkers for clear cell renal cell carcinoma 微rna 193a-3p、378-3p、210-3p和362-3p作为透明细胞肾细胞癌血清生物标志物的潜力

IF 0.5 Q4 GENETICS & HEREDITY

Human Gene

Pub Date : 2025-06-25 DOI: 10.1016/j.humgen.2025.201444

Benedikt Ewig , Thomas Büttner , Glen Kristiansen , Doris Schmidt , Jörg Ellinger , Stefan Hauser

Objective

MicroRNAs (miRs) play a significant role in carcinogenesis and tumor progression, suggesting their potential as biomarkers. This study aimed to evaluate the diagnostic utility of four circulating miRs in patients with clear cell renal cell carcinoma (ccRCC).

Methods

Serum expression levels of miR-193a-3p, miR-378-3p, miR-210-3p, and miR-362-3p were quantified in 30 patients with clear cell renal cell carcinoma (ccRCC) and 15 non-tumor controls using real-time polymerase chain reaction. Mann–Whitney U tests and Receiver Operating Characteristics with Area under the curve (AUC) calculations were employed to evaluate the association between miR expression levels and patient group (ccRCC versus controls).

Results

Statistically significant differences in mean serum levels of miR-193a-3p and miR-378-3p were observed between ccRCC patients and controls. The median miR-193a-3p level was increased in ccRCC patients (median: 4.50 %, IQR: 1.38, 11.47) compared to controls (median: 2.57 %, IQR: 0.27, 3.87), p = 0.032; AUC for ccRCC detection was 0.70. Also, the median miR-378-3p level was higher in ccRCC patients (median: 2.01 %, IQR: 1.00, 3.33) compared to controls (median: 0.66 %, IQR: 0.44, 1.98), p = 0.049. AUC was 0.68. No significant differences were found for serum miR-362-3p and miR-210-3p expression in ccRCC patients and non-tumor controls (p = 0.547 for miR-362-3p and p = 0.791 for miR-210-3p).

Conclusion

These findings suggest that miR-193a-3p and miR-378-3p may have limited potential as diagnostic biomarkers for ccRCC. The data do not support further investigation of miR-362-3p and miR-210-3p for this purpose.

目的：micrornas （miRs）在癌变和肿瘤进展中发挥重要作用，提示其作为生物标志物的潜力。本研究旨在评估四种循环miRs在透明细胞肾细胞癌（ccRCC）患者中的诊断价值。方法采用实时聚合酶链反应法测定30例透明细胞肾细胞癌（ccRCC）患者和15例非肿瘤对照组血清中miR-193a-3p、miR-378-3p、miR-210-3p和miR-362-3p的表达水平。采用Mann-Whitney U检验和曲线下面积（AUC）计算的受试者操作特征来评估miR表达水平与患者组（ccRCC与对照组）之间的关系。结果ccRCC患者血清miR-193a-3p、miR-378-3p水平与对照组比较差异均有统计学意义。与对照组（中位数：2.57%,IQR: 0.27, 3.87）相比，ccRCC患者中位miR-193a-3p水平升高（中位数：4.50%,IQR: 1.38, 11.47）， p = 0.032；ccRCC检测的AUC为0.70。此外，ccRCC患者中位miR-378-3p水平（中位数：2.01%,IQR: 1.00, 3.33）高于对照组（中位数：0.66%,IQR: 0.44, 1.98）， p = 0.049。AUC为0.68。血清miR-362-3p和miR-210-3p在ccRCC患者和非肿瘤对照组中表达无显著差异（miR-362-3p p = 0.547, miR-210-3p p = 0.791）。这些发现表明miR-193a-3p和miR-378-3p作为ccRCC的诊断生物标志物可能潜力有限。数据不支持为此目的进一步研究miR-362-3p和miR-210-3p。

{"title":"Potential of micro-RNAs 193a-3p, 378-3p, 210-3p, and 362-3p as serum biomarkers for clear cell renal cell carcinoma","authors":"Benedikt Ewig , Thomas Büttner , Glen Kristiansen , Doris Schmidt , Jörg Ellinger , Stefan Hauser","doi":"10.1016/j.humgen.2025.201444","DOIUrl":"10.1016/j.humgen.2025.201444","url":null,"abstract":"<div><h3>Objective</h3><div>MicroRNAs (miRs) play a significant role in carcinogenesis and tumor progression, suggesting their potential as biomarkers. This study aimed to evaluate the diagnostic utility of four circulating miRs in patients with clear cell renal cell carcinoma (ccRCC).</div></div><div><h3>Methods</h3><div>Serum expression levels of miR-193a-3p, miR-378-3p, miR-210-3p, and miR-362-3p were quantified in 30 patients with clear cell renal cell carcinoma (ccRCC) and 15 non-tumor controls using real-time polymerase chain reaction. Mann–Whitney <em>U</em> tests and Receiver Operating Characteristics with Area under the curve (AUC) calculations were employed to evaluate the association between miR expression levels and patient group (ccRCC versus controls).</div></div><div><h3>Results</h3><div>Statistically significant differences in mean serum levels of miR-193a-3p and miR-378-3p were observed between ccRCC patients and controls. The median miR-193a-3p level was increased in ccRCC patients (median: 4.50 %, IQR: 1.38, 11.47) compared to controls (median: 2.57 %, IQR: 0.27, 3.87), <em>p</em> = 0.032; AUC for ccRCC detection was 0.70. Also, the median miR-378-3p level was higher in ccRCC patients (median: 2.01 %, IQR: 1.00, 3.33) compared to controls (median: 0.66 %, IQR: 0.44, 1.98), <em>p</em> = 0.049. AUC was 0.68. No significant differences were found for serum miR-362-3p and miR-210-3p expression in ccRCC patients and non-tumor controls (<em>p</em> = 0.547 for miR-362-3p and <em>p</em> = 0.791 for miR-210-3p).</div></div><div><h3>Conclusion</h3><div>These findings suggest that miR-193a-3p and miR-378-3p may have limited potential as diagnostic biomarkers for ccRCC. The data do not support further investigation of miR-362-3p and miR-210-3p for this purpose.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201444"},"PeriodicalIF":0.5,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144490532","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}

引用次数: 0

Comparing DNA damage in fresh versus frozen blood from healthy individuals and patients with obesity in Egypt 比较埃及健康人与肥胖患者新鲜血液与冷冻血液中的DNA损伤

IF 0.5 Q4 GENETICS & HEREDITY

Human Gene

Pub Date : 2025-06-23 DOI: 10.1016/j.humgen.2025.201441

Peter S.F. Erian , Rania M.A. Abdel Kader , Safinaz E. Eltoukhy

The use of alkaline comet assay has increased in DNA damage assessment in various non-communicable diseases and epidemiological studies, which, in turn, requires a large sample size. Our objective is to compare the damage of DNA using comet assay in healthy individuals versus patients with obesity and to evaluate the feasibility of using frozen whole blood samples as a simple solution for the need for large sample size. Based on this study and previous literature, using frozen whole blood samples in the comet assay technique is a simple and feasible approach that can be readily applied in biomonitoring and epidemiological studies. Furthermore, this study compared comet tail length in healthy individuals and patients with obesity, revealing greater DNA damage in patients with obesity samples, which denotes a higher risk of mutations, chromosomal abnormalities, and cancer. Further enhancements and validation are recommended for technique improvement, and further studies of DNA damage in various non-communicable diseases, including obesity, are also recommended.

在各种非传染性疾病和流行病学研究中，使用碱性彗星测定法增加了DNA损伤评估，这反过来又需要大量样本。我们的目的是比较健康个体和肥胖患者使用彗星测定法的DNA损伤，并评估使用冷冻全血样本作为需要大样本量的简单解决方案的可行性。基于本研究和以往文献，冷冻全血在彗星分析技术中是一种简单可行的方法，可以很容易地应用于生物监测和流行病学研究。此外，该研究比较了健康个体和肥胖患者的彗星尾巴长度，揭示了肥胖患者样本中更大的DNA损伤，这表明突变、染色体异常和癌症的风险更高。建议进一步加强和验证技术改进，并建议进一步研究包括肥胖在内的各种非传染性疾病的DNA损伤。

引用次数: 0