Gene Reports最新文献_第5页

Advanced glycation end products enhance human atrial fibroblast activity through activation of interferon/signal transducer and activator of transcription signaling 晚期糖基化终产物通过激活干扰素/信号转导因子和转录信号激活因子增强人心房成纤维细胞活性

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2026-03-01 Epub Date: 2026-01-04 DOI: 10.1016/j.genrep.2025.102423

Tzu-Yu Cheng , Shao-Jung Li , Ting-Wei Lee , Ting-I Lee , Yao-Chang Chen , Yu-Hsun Kao , Satoshi Higa , Pao-Huan Chen , Yi-Jen Chen

Background

Diabetes mellitus and metabolic disorders increase the risk of atrial fibrillation with cardiac electrical and structural remodeling. Advanced glycation end products (AGEs) and their receptor (RAGE) play a critical role in the pathogenesis of diabetes mellitus cardiomyopathy and contribute to atrial fibrogenesis, leading to atrial myopathy. This study elucidated the role of AGEs in atrial fibrogenesis and explored the underlying mechanisms.

Methods

Human atrial fibroblasts were treated with AGE–bovine serum albumin (AGE–BSA, 100 μg/mL for 48 h) in the presence or absence of an anti-RAGE neutralizing antibody (RAGE Ab; 5 μg/mL for 48 h). RNA deep sequencing, patch-clamp electrophysiology, and Western blot analyses were performed to assess gene expression, electrical activity, and protein signaling pathways.

Results

A total of 40 genes were differentially expressed in AGE-BSA-treated human atrial fibroblasts compared with controls, with 31 genes upregulated and 9 downregulated. A reactome pathway enrichment analysis revealed significant upregulation of pathways related to “Interferon (IFN) alpha/beta signaling,” “Interferon signaling,” “Cytokine signaling in immune system,” “Immune system,” “2′-5′-oligoadenylate synthetase (OAS) antiviral response,” “Interferon-stimulated gene 15 (ISG15) antiviral mechanism,” “Interferon gamma signaling,” and “O-linked glycosylation of mucins” and involvement of the IFN/signal transducer and activator of transcription (STAT)/OAS inflammatory signaling pathways, suggesting that AGE-BSA treatment activated IFN/STAT signaling. Western blot and patch-clamp analyses further demonstrated that AGE treatment activated downstream STAT3/transient receptor potential canonical (TRPC) channel/IP3 receptor signaling and increased TRPC current.

Conclusions

AGEs may modulate atrial fibroblast function by activating downstream IFN/STAT signaling pathways and increasing TRPC current activity.

背景：糖尿病和代谢性疾病增加心房颤动的风险，同时伴有心脏电和结构重构。晚期糖基化终产物（AGEs）及其受体（RAGE）在糖尿病心肌病的发病机制中起关键作用，并参与心房纤维形成，导致心房肌病。本研究阐明了AGEs在心房纤维形成中的作用，并探讨了其潜在机制。方法用age -牛血清白蛋白（AGE-BSA, 100 μg/mL）在抗RAGE中和抗体（RAGE Ab, 5 μg/mL）存在或不存在的情况下作用于人心房成纤维细胞48 h。采用RNA深度测序、膜片钳电生理和Western blot分析来评估基因表达、电活动和蛋白质信号通路。结果与对照组相比，age - bsa处理的人心房成纤维细胞共有40个基因表达差异，其中31个基因表达上调，9个基因表达下调。反应组通路富集分析显示，与“干扰素(IFN) α / β信号传导”、“干扰素信号传导”、“免疫系统细胞因子信号传导”、“免疫系统”、“2 ' -5 ' -寡腺苷酸合成酶（OAS）抗病毒反应”、“干扰素刺激基因15 （ISG15）抗病毒机制”、“干扰素γ信号传导”、“干扰素γ信号传导”相关的通路显著上调。和“粘蛋白的O-linked glycosylation of mucins”，以及IFN/信号转换器和转录激活因子(STAT)/OAS炎症信号通路的参与，表明AGE-BSA治疗激活了IFN/STAT信号通路。Western blot和膜片钳分析进一步表明，AGE处理激活了下游STAT3/瞬时受体电位规范（TRPC）通道/IP3受体信号通路，并增加了TRPC电流。结论ages可能通过激活下游IFN/STAT信号通路和增加TRPC电流活性来调节心房成纤维细胞功能。

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引用次数: 0

Genomic insight into the glutathione S-transferase gene family in Phenacoccus solenopsis 扶桑绵球菌谷胱甘肽s转移酶基因家族的基因组研究

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2026-03-01 Epub Date: 2026-01-08 DOI: 10.1016/j.genrep.2026.102427

Qian-Kun Du , Xin-Hua Ding , Wen-Chao Guo , Guo-Qing Li

Cotton mealybug Phenacoccus solenopsis damages more than 200 host plant species from >55 families, posing a threat to cotton, vegetables and various other ornamental plants. As a polyphagous herbivore, P. solenopsis is usually exposed to numerous phytochemicals and synthetic pesticides and should develop several countermeasures; among them are the duplication of glutathione S-transferases (GSTs), a major class of detoxifying enzymes. To our surprise, only 9 GST genes were identified from P. solenopsis genome and transcriptome dataset in the current paper. P. solenopsis had fewer PsGST genes among Hemipterans. These PsGST genes were actively transcribed across developmental stages; the average RPKM values of PsGSTd3, PsGSTd1 and PsGSTs1 ranked in the top 3. All 9 PsGSTs are cytosolic, and were classified into delta, epsilon, omega, sigma, and zeta subclasses (3, 3, 1, 1, and 1 respectively). The 9 PsGSTs had an average length of 322 amino acid residues, and mean predicted isoelectric point of 6.27. The majority (7 PsGSTs) were acidic proteins. The mean aliphatic index was 90.76 and a projected grand average of hydropathicity value was negative, suggesting that the 9 PsGSTs were hydrophilic by nature. The 9 PsGSTs were widely distributed across 4 chromosomes and a scaffold. Genomic distribution and collinearity analysis did not provide clear evidence for recent expansion in the current genome. We propose that polyphagous P. solenopsis mainly feeds on shoot and avoids most plant xenobiotics. Moreover, the waxy coverage layer surrounding P. solenopsis can obstruct the entry of toxic plant volatiles into the body. Accordingly, GSTs have not duplicated during adaptation of the mealybug to various plant hosts.

棉粉蚧（Phenacoccus solenopsis）危害55科200多种寄主植物，对棉花、蔬菜和各种观赏植物构成威胁。作为一种多食性草食动物，扶桑opsis经常暴露于大量的植物化学物质和合成农药中，应制定对策；其中包括谷胱甘肽s -转移酶（GSTs）的复制，这是一类主要的解毒酶。令我们惊讶的是，本论文仅从扶桑螺旋藻基因组和转录组数据集中鉴定出9个GST基因。在半足类动物中，扶桑拟虫的PsGST基因较少。这些PsGST基因在各个发育阶段都有活跃的转录；PsGSTd3、PsGSTd1和PsGSTs1的平均RPKM值排在前3位。所有9种psgst均为胞质性，分为δ、epsilon、omega、sigma和zeta亚类（分别为3,3,1,1和1）。9个psgst的平均长度为322个氨基酸残基，平均预测等电点为6.27。大多数（7个）psgst为酸性蛋白。脂肪族指数平均值为90.76，亲水性值的预测大平均值为负值，表明9个psgst具有亲水性。9个psgst广泛分布在4条染色体和一个支架上。基因组分布和共线性分析没有提供当前基因组近期扩增的明确证据。我们认为，多食性扶桑拟南芥主要以茎部为食，避开大部分植物的外来物。此外，扶桑藤周围的蜡质覆盖层可以阻止有毒植物挥发物进入体内。因此，在粉蚧适应各种植物寄主的过程中，gst没有复制。

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引用次数: 0

Acquisition of multiple drug resistance genes by a novel isolate of A. junii from plastic laden landfill soil through horizontal gene transfer 从垃圾填埋场填满塑料的土壤中通过水平基因转移获得一株新菌株的多重耐药基因

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2026-03-01 Epub Date: 2025-11-19 DOI: 10.1016/j.genrep.2025.102387

Kaustubh Jumle , Naveen Malik , Sudarshan Singh Lakhawat , Baljinder Singh , Himanshu Gogoi , Akhilesh Kumar , Pushpender Kumar Sharma

In the present study, we have investigated and compared metagenome sample of plastic-laden landfill soil with garden soil for the presence of antimicrobial resistance (AMR) genes. Interestingly, during the analysis, we identified several AMR genes that include sul1and sul2 encoding sulfonamide resistance, emr (A) and emr (33) encoding macrolide resistance, bla AQU-3 coding β lactam resistance, vanX (A) coding glycopeptide resistance and drfG coding diaminopyrimidine resistance in plastic-laden landfill soil, whereas no AMR genes could be annotated in the garden soil metagenome sample. Furthermore, screening of AMR phenotype from a plastic-laden landfill soil reveals a bacterium demonstrating resistance to different classes of antibiotics. The whole genome sequencing and analysis reveals its close similarity with Acinetobacter junii, the strain identified henceforth named A. junii JPR0524. Assembled genome demonstrated ∼40 % GC content, and a genome size of ∼3.5 Mbp. Interestingly, several AMR genes could be annotated in A. junii JPR0524 genome. We also predicted several horizontal gene transfer (HGT) sites in JPR0524 genome, noticeably many of these sites overlapped with the predicted AMR genes sites. In addition, insertion of phage DNA fragments was also predicted at one end of the assembled genome, presumably attributed to horizontal gene transfer. Altogether, it appears that strain A. junii JPR0524 might have acquired these multidrug resistance genes in landfill sites through the horizontal gene transfer as evident from identification of putative HGT site in its genome.

在本研究中，我们调查并比较了垃圾填埋场土壤和花园土壤的宏基因组样本中抗菌素耐药性（AMR）基因的存在。有趣的是，在分析过程中，我们发现了几个AMR基因，包括编码磺胺抗性的sul1和sul2，编码大环内酯抗性的emr (A)和emr(33)，编码β内酰胺抗性的bla aqu3，编码糖肽抗性的vanX (A)和编码二氨基嘧啶抗性的drfG，而在花园土壤宏基因组样本中没有AMR基因被注释。此外，从充满塑料的垃圾填埋场土壤中筛选AMR表型揭示了一种细菌对不同类别的抗生素表现出耐药性。全基因组测序和分析结果表明，该菌株与朱尼不动杆菌（a.j junii JPR0524）具有密切的相似性。组装的基因组显示出约40%的GC含量，基因组大小约为3.5 Mbp。有趣的是，几个AMR基因可以在刺桐JPR0524基因组中被注释。我们还预测了JPR0524基因组中的几个水平基因转移（HGT）位点，值得注意的是，这些位点中有许多与预测的AMR基因位点重叠。此外，噬菌体DNA片段的插入也被预测在组装基因组的一端，可能归因于水平基因转移。总之，juni菌株JPR0524可能通过水平基因转移在垃圾填埋场获得了这些多药耐药基因，这一点从其基因组中推定的HGT位点的鉴定中得到了证明。

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引用次数: 0

The role of epigenetic alterations induced by genistein, EGCG, luteolin, and hesperidin in breast cancer: A systematic review 染料木素、EGCG、木犀草素和橙皮苷诱导的表观遗传改变在乳腺癌中的作用：一项系统综述

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2026-03-01 Epub Date: 2025-11-26 DOI: 10.1016/j.genrep.2025.102394

Amirhossein Rajabalinejad , Mahsa Jalili , Rasool Rajabi , Maryam Nazari

Epigenetic modifications, such as DNA methylation, histone modifications, and non-coding RNA regulation, have attracted attention as potential cancer therapy targets. Breast cancer is heavily influenced by epigenetic dysregulation (e.g., BRCA1/2 tumor suppressor genes deactivation) alongside genetic and environmental factors. Dietary flavonoids in fruits and vegetables, such as genistein, epigallocatechin gallate, luteolin, and hesperidin, have been shown to regulate epigenetic pathways by reversing these aberrations. The motive of this systematic review is to evaluate studies reporting flavonoid-induced epigenetic changes in breast cancer and their potential to overcome therapy resistance. A systematic search was conducted across PubMed, Scopus, Web of Science, and Cochrane from inception to February 2025, identifying 550 studies. Studies were selected based on their focus on selected flavonoids, use of in vivo or in vitro experiments, and breast cancer models. Ultimately, 48 eligible studies were included for qualitative synthesis, in which genistein (24 studies) and EGCG (19 studies) were the most extensively investigated; these compounds demonstrated consistent demethylation effects and regulation of histone and microRNA expression, whereas luteolin (7 studies) and hesperidin (2 studies) showed preliminary yet promising outcomes. Most of the studies show robust preclinical data with low bias (45/48 studies) across diverse models; however, there are bioavailability challenges and limited studies on epigenetic effects of hesperidin and luteolin. The chemopreventive role and synergistic potentials with conventional agents support flavonoids as potential complementary therapies for breast cancer, though further clinical validation and strategies for bioavailability optimization are merited.

表观遗传修饰，如DNA甲基化、组蛋白修饰和非编码RNA调控，作为潜在的癌症治疗靶点引起了人们的关注。乳腺癌在很大程度上受表观遗传失调（如BRCA1/2肿瘤抑制基因失活）以及遗传和环境因素的影响。饮食中的类黄酮水果和蔬菜，如染料木素、表没食子儿茶素没食子酸酯、木犀草素和橙皮苷，已被证明通过逆转这些畸变来调节表观遗传途径。本系统综述的目的是评估报道类黄酮诱导的乳腺癌表观遗传变化及其克服治疗耐药的潜力的研究。系统检索了PubMed、Scopus、Web of Science和Cochrane从成立到2025年2月的550项研究。研究的选择是基于它们对选定的类黄酮的关注，体内或体外实验的使用以及乳腺癌模型。最终，48项符合条件的研究被纳入定性合成，其中染料木素（24项研究）和EGCG（19项研究）被研究得最广泛；这些化合物显示出一致的去甲基化作用和组蛋白和microRNA表达的调节，而木犀草素（7项研究）和橙皮苷（2项研究）显示了初步但有希望的结果。大多数研究在不同模型中显示了低偏倚的可靠临床前数据（45/48项研究）；然而，橙皮苷和木犀草素的表观遗传效应存在生物利用度方面的挑战和有限的研究。化学预防作用和与传统药物的协同作用支持黄酮类化合物作为乳腺癌的潜在补充疗法，尽管需要进一步的临床验证和生物利用度优化策略。

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引用次数: 0

Impact of LMNA gene polymorphism (rs581342) on lung cancer susceptibility: Evidence from a southeast Iranian population LMNA基因多态性（rs581342）对肺癌易感性的影响：来自伊朗东南部人群的证据

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2026-03-01 Epub Date: 2025-12-14 DOI: 10.1016/j.genrep.2025.102411

Narges Karimi , Ali Afgar , Maryam Fekri Soufiabadi , Maryam Iranpour , Mohammad Reza Zangouey , Seyed Mehdi Hashemi Bajgani , Shahriar Dabiri

Background

This study aimed to evaluate the association between the rs581342 polymorphism and lung cancer risk in an Iranian population. No prior research has investigated this relationship in southeast Iran.

Method

A case–control study was conducted on 300 individuals (150 lung cancer patients and 150 healthy controls) in southern Iran (2022–2024). Cases and controls were matched to sex and age. Demographic variables, histological subtypes, and tumor differentiation grades were collected. Genotyping of rs581342 was performed using the ARMS-PCR method. Statistical analyses included chi-square test, logistic regression, and Hardy–Weinberg equilibrium.

Results

Patients with small cell lung cancer (SCLC) were significantly older than those with non-small cell lung cancer (NSCLC) (P < 0.05), and males had a higher prevalence of lung cancer (P = 0.005). Genotype distribution differed between patients and controls (P = 0.001), but not between genders (P = 0.121). The TC genotype was protective (OR = 0.29), while the CC genotype increased risk (OR = 1.78). No association was found with cancer subtypes; however, genotype distribution strongly correlated with tumor differentiation (P < 0.0001). The substantial deviation from Hardy–Weinberg equilibrium (χ² = 189.3, P < 0.0001) appears to reflect methodological constraints of the ARMS-PCR assay rather than any underlying selective pressure. Logistic regression confirmed gender (OR = 1.958, P = 0.017) and genotype (P = 0.008) as significant predictors, while age showed borderline significance (P = 0.096).

Conclusion

The rs581342 polymorphism may serve as a genetic marker for lung cancer susceptibility and tumor differentiation, though not for histological subtype classification.

本研究旨在评估伊朗人群中rs581342多态性与肺癌风险之间的关系。此前没有研究调查过伊朗东南部的这种关系。方法对伊朗南部地区（2022-2024年）300例（150例肺癌患者和150例健康对照）进行病例对照研究。病例和对照组与性别和年龄相匹配。收集人口统计学变量、组织学亚型和肿瘤分化等级。采用ARMS-PCR方法对rs581342进行基因分型。统计分析包括卡方检验、logistic回归和Hardy-Weinberg均衡。结果小细胞肺癌（SCLC）患者年龄明显大于非小细胞肺癌（NSCLC）患者（P < 0.05），且男性肺癌患病率较高（P = 0.005）。基因型分布在患者和对照组之间存在差异（P = 0.001），但在性别之间无差异（P = 0.121）。TC基因型具有保护作用（OR = 0.29），而CC基因型具有增加风险（OR = 1.78）。与癌症亚型没有关联；然而，基因型分布与肿瘤分化密切相关（P < 0.0001）。与Hardy-Weinberg平衡的显著偏差（χ2 = 189.3, P < 0.0001）似乎反映了ARMS-PCR试验的方法学限制，而不是任何潜在的选择压力。Logistic回归证实性别（OR = 1.958, P = 0.017）和基因型（P = 0.008）是显著的预测因子，年龄具有临界显著性（P = 0.096）。结论rs581342多态性可作为肺癌易感性和肿瘤分化的遗传标记，但不能作为肺癌组织学亚型划分的遗传标记。

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引用次数: 0

Zinc oxide nanoparticle conjugated with Lapatinib has apoptogenic effect on colon cancer cell line 氧化锌纳米颗粒结合拉帕替尼对结肠癌细胞系有凋亡作用

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2026-03-01 Epub Date: 2025-11-13 DOI: 10.1016/j.genrep.2025.102383

Seyed Milad Mousavi Eshkelani , Riham Nasser , Fatemeh Ghaderibarmi , Fatemeh Mirzaee , Farideh Tahmoresi , Arash Davoudi , Hedyeh Bagheri Darestani , Nafiseh Khakzad , Diba Heidari , Sana Tarashandeh Hemmati , Shahrzad Aghajani , Taraneh Ghasemipour , Fahimeh Abedini Bajgiran , Ahmed Raheem Rayshan , Ali salehzadeh

Adjuvant chemotherapy for colon cancer in its advanced stages is not associated with much success. Nanoparticle-mediated delivery of anticancer drugs represents an innovative approach for efficient and specific targeting of cancer cells. In this work, ZnO NPs were functionalized with glucose and conjugated with Lapatinib. Next, their anticancer effects on colon cancer cells were investigated. Physicochemical properties of ZnO@Glu-Lapatinib NPs were analyzed by FT-IR, XRD, EDS, DLS, Zeta potential measurement, and SEM and TEM microscopy. Cell viability in the colon cancer (SW480) and normal (HEK293) cells treated with the NPs was determined and 50 % inhibitory concentration (IC₅₀) was calculated. Cell cycle and apoptosis/necrosis analyses in the cancer cells were performed by flow cytometry and the expression level of the CASP8 and CASP9 genes was investigated by real-time PCR. Hoechst staining was performed to see the morphology of apoptotic cells. The ZnO@Glu-Lapatinib NPs were correctly synthesized with a spherical shape, DLS of 872.4 nm, zeta potential of −39.2, without impurity and diameter of 43.7–63.8 nm in their dry form. The IC₅₀ of ZnO@Glu-Lapatinib NPs in the normal and cancer cell lines were 36.82 and 7.78 μg/mL, respectively. Treatment of cancer cells with ZnO@Glu-Lapatinib NPs increased cell apoptosis, mainly early apoptosis (74.3 %) and elevated cell cycle blockage at the G0/G1 phase (79.9 %). Alterations in nuclear morphology such as chromatin condensation and fragmentation in favor of apoptosis were evident in cancer cells treated with ZnO@Glu-Lapatinib NPs in Hoechst staining. The expression levels of the CASP8 and CASP9 in the treated cancer cells increased to 6.4 and 3.9 folds, respectively. ROS analysis showed a 50.9-fold increase in reactive oxygen species oxidative after treatment. This study exhibited that ZnO@Glu-Lapatinib is a potential anticancer candidate that reduces the viability of colon cancer cells by inducing apoptosis pathways.

晚期结肠癌的辅助化疗成功率不高。纳米颗粒介导的抗癌药物递送代表了一种有效和特异性靶向癌细胞的创新方法。在这项工作中，ZnO NPs被葡萄糖功能化并与拉帕替尼偶联。接下来，研究了它们对结肠癌细胞的抗癌作用。采用FT-IR、XRD、EDS、DLS、Zeta电位测量、SEM和TEM显微镜对ZnO@Glu-Lapatinib NPs的理化性质进行了分析。测定NPs作用于结肠癌（SW480）和正常（HEK293）细胞的细胞活力，并计算50%抑制浓度（IC50）。流式细胞术检测肿瘤细胞周期和凋亡/坏死，实时荧光定量PCR检测CASP8和CASP9基因的表达水平。采用Hoechst染色观察凋亡细胞形态。合成的ZnO@Glu-Lapatinib纳米粒子为球形，DLS为872.4 nm， zeta电位为- 39.2，无杂质，干态直径为43.7 ~ 63.8 nm。ZnO@Glu-Lapatinib NPs在正常和肿瘤细胞株中的IC50分别为36.82和7.78 μg/mL。ZnO@Glu-Lapatinib NPs治疗癌细胞增加了细胞凋亡，主要是早期凋亡（74.3%）和G0/G1期细胞周期阻滞（79.9%）。Hoechst染色显示，在ZnO@Glu-Lapatinib NPs处理的癌细胞中，核形态的改变，如染色质凝聚和碎片化，有利于细胞凋亡。CASP8和CASP9在处理后的癌细胞中的表达水平分别增加到6.4倍和3.9倍。活性氧分析显示，处理后活性氧增加50.9倍。该研究表明ZnO@Glu-Lapatinib是一种潜在的抗癌候选者，通过诱导凋亡途径降低结肠癌细胞的活力。

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引用次数: 0

Integrated morphological, histological and transcriptomic profiling of papilla regeneration in the sea cucumber Apostichopus japonicus 海参乳头再生的形态学、组织学和转录组学综合分析

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2026-03-01 Epub Date: 2025-12-17 DOI: 10.1016/j.genrep.2025.102399

Wanrong Tian , Xiaonan Li , Xuan Liu , Junhui Wang , Qi Ye , Jinwei Zhao , Weiyan Li , Haoran Xiao , Yongjie Wang , Yinghui Li , Lingshu Han , Chong Zhao , Jun Ding

The sea cucumber (Apostichopus japonicus) is an important cultured species with high nutritional and economic value. Body surface papillae are prominent body wall structures, whose morphology can influence external appearance and commercial grading while also being capable of regeneration. Despite their importance, the cellular and molecular mechanisms underlying papilla regeneration in A. japonicus remain largely unknown. We hypothesized that this process is orchestrated by a dynamic interplay between extracellular matrix (ECM) remodeling and evolutionarily conserved signaling pathways. To test this, this study involved the excision of papillae from sea cucumbers, followed by morphological, histological and transcriptomic analyses at 1, 3-, 7-, 14-, and 21-days post-experiment. Morphological analysis indicated that by 21 days post-regrowth, the appearance of the sea cucumber papillae was nearly indistinguishable from its pre-regrowth state. Histological analysis revealed that the tissues had largely reverted to their normal state by the 21st day of regeneration. Thus, the regeneration period of papillae is approximately 21 days.

An Illumina transcriptome analysis was performed on the sea cucumbers at 1, 3-, 7-, 14-, and 21-days after the papillae were cut. Differentially expressed genes were classified and enriched through GO and KEGG databases. These results suggest that the regeneration of sea cucumber papillae is associated with the reconstruction of the extracellular matrix, and the ECM-receptor interaction signaling pathway plays a pivotal role in this process. Several key genes, such as COL1A2, DMBT1, fibropellin-ia, TNXB, and KCP, were identified as collective regulators of papillae regeneration in sea cucumbers. Sea cucumbers exhibit an extraordinary capacity to regenerate damaged or lost tissues and organs. This study identifies the ECM-receptor interaction pathway and key genes (such as COL1A2, DMBT1) as crucial regulators of sea cucumber papillae regeneration.

海参（Apostichopus japonicus）是一种具有较高营养价值和经济价值的重要养殖品种。体表乳头是突出的体壁结构，其形态可以影响外观和商业分级，同时也具有再生能力。尽管它们具有重要意义，但日本刺参乳头再生的细胞和分子机制在很大程度上仍然未知。我们假设这一过程是由细胞外基质（ECM）重塑和进化保守的信号通路之间的动态相互作用精心策划的。为了验证这一点，本研究包括从海参中切除乳头，然后在实验后1、3、7、14和21天进行形态学、组织学和转录组学分析。形态学分析表明，再生21天后，海参乳头的外观与再生前几乎没有区别。组织学分析显示，在再生的第21天，组织基本恢复到正常状态。因此，乳头的再生周期约为21天。在海参乳头切除后1、3、7、14和21天对海参进行Illumina转录组分析。通过GO和KEGG数据库对差异表达基因进行分类和富集。这些结果表明，海参乳头的再生与细胞外基质的重建有关，而ecm受体相互作用信号通路在这一过程中起着关键作用。几个关键基因，如COL1A2、DMBT1、纤维蛋白蛋白缺失、TNXB和KCP，被确定为海参乳头再生的集体调节因子。海参表现出非凡的再生受损或丢失的组织和器官的能力。本研究确定了ecm受体相互作用途径和关键基因（如COL1A2、DMBT1）是海参乳头再生的重要调控因子。

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引用次数: 0

ENPP1/PC-1 K121Q (rs1044498) polymorphism and genetic susceptibility to metabolic syndrome in a Moroccan population 摩洛哥人群ENPP1/PC-1 K121Q （rs1044498）多态性与代谢综合征遗传易感性

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2026-03-01 Epub Date: 2026-01-05 DOI: 10.1016/j.genrep.2026.102426

Hamid Farhane , Majida Motrane , Soufiane Karchali , Oumaima El Alaoui El Abdellaoui , Fatima-Ezzahra Anaibar , Aïcha Motrane , Said Nassor Abeid , Abderraouf Hilali , Nourdin Harich

Objective

Metabolic syndrome (MetS) is a multifactorial pathology that includes several metabolic abnormalities, such as hypertension, dyslipidemia, abdominal obesity, and hyperglycemia. Genetic factors play a key role in its development. This study aims to examine the relationship between the rs1044498 polymorphism of the ENPP1 gene and MetS in the Moroccan population.

Methodology

In this case-control study, 92 individuals with MetS and 90 controls were recruited. Genetic analysis of the SNP was performed by Sanger sequencing using the ABI 3500 genetic analyzer.

Results

The AA genotype was more common in patients with MetS (42.4 %) compared to controls (24.4 %); p = 0.037. Moreover, the frequency of the A allele was significantly higher in cases (61.4 %) than in controls (50 %); p = 0.028. The AA genotype showed a strong association with MetS (OR = 2.274; p = 0.011), while the A allele showed a similar association (OR = 1.592; p = 0.028). Conversely, the C allele and the dominant AC/CC pattern appeared to offer protection against MetS. Furthermore, the AA genotype was associated with higher levels of weight, body mass index, waist circumference, hip circumference, systolic blood pressure, and glycemia.

Conclusion

This study shows that individuals carrying the AA genotype and the A allele of the ENPP1 rs1044498 polymorphism have a significantly increased risk of developing MetS, as well as adverse parameters related to obesity, hypertension and hyperglycemia. This polymorphism could therefore constitute a valuable clinical biomarker for screening and identifying individuals at high risk of cardio-metabolic disorders in the Moroccan population.

目的代谢综合征（MetS）是一种多因素病理，包括几种代谢异常，如高血压、血脂异常、腹部肥胖和高血糖。遗传因素在其发展中起关键作用。本研究旨在研究摩洛哥人群中ENPP1基因rs1044498多态性与MetS之间的关系。在这项病例对照研究中，招募了92名met患者和90名对照组。使用ABI 3500遗传分析仪进行Sanger测序对SNP进行遗传分析。结果AA基因型在met患者（42.4%）中较对照组（24.4%）更为常见；p = 0.037。此外，病例中A等位基因的频率（61.4%）显著高于对照组（50%）；p = 0.028。AA基因型与MetS有较强的相关性（OR = 2.274, p = 0.011）， a基因型与MetS有较强的相关性（OR = 1.592, p = 0.028）。相反，C等位基因和显性AC/CC模式似乎提供了对MetS的保护。此外，AA基因型与较高水平的体重、体重指数、腰围、臀围、收缩压和血糖有关。结论本研究表明，携带AA基因型和ENPP1 rs1044498多态性A等位基因的个体发生MetS的风险显著增加，并且与肥胖、高血压和高血糖相关的不良参数也显著增加。因此，这种多态性可以构成一种有价值的临床生物标志物，用于筛查和识别摩洛哥人群中心脏代谢紊乱高危人群。

{"title":"ENPP1/PC-1 K121Q (rs1044498) polymorphism and genetic susceptibility to metabolic syndrome in a Moroccan population","authors":"Hamid Farhane , Majida Motrane , Soufiane Karchali , Oumaima El Alaoui El Abdellaoui , Fatima-Ezzahra Anaibar , Aïcha Motrane , Said Nassor Abeid , Abderraouf Hilali , Nourdin Harich","doi":"10.1016/j.genrep.2026.102426","DOIUrl":"10.1016/j.genrep.2026.102426","url":null,"abstract":"<div><h3>Objective</h3><div>Metabolic syndrome (MetS) is a multifactorial pathology that includes several metabolic abnormalities, such as hypertension, dyslipidemia, abdominal obesity, and hyperglycemia. Genetic factors play a key role in its development. This study aims to examine the relationship between the rs1044498 polymorphism of the ENPP1 gene and MetS in the Moroccan population.</div></div><div><h3>Methodology</h3><div>In this case-control study, 92 individuals with MetS and 90 controls were recruited. Genetic analysis of the SNP was performed by Sanger sequencing using the ABI 3500 genetic analyzer.</div></div><div><h3>Results</h3><div>The AA genotype was more common in patients with MetS (42.4 %) compared to controls (24.4 %); <em>p</em> = 0.037. Moreover, the frequency of the A allele was significantly higher in cases (61.4 %) than in controls (50 %); <em>p</em> = 0.028. The AA genotype showed a strong association with MetS (OR = 2.274; <em>p</em> = 0.011), while the A allele showed a similar association (OR = 1.592; <em>p</em> = 0.028). Conversely, the C allele and the dominant AC/CC pattern appeared to offer protection against MetS. Furthermore, the AA genotype was associated with higher levels of weight, body mass index, waist circumference, hip circumference, systolic blood pressure, and glycemia.</div></div><div><h3>Conclusion</h3><div>This study shows that individuals carrying the AA genotype and the A allele of the ENPP1 rs1044498 polymorphism have a significantly increased risk of developing MetS, as well as adverse parameters related to obesity, hypertension and hyperglycemia. This polymorphism could therefore constitute a valuable clinical biomarker for screening and identifying individuals at high risk of cardio-metabolic disorders in the Moroccan population.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102426"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145921018","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

Cycloxygenase-2 (−765G>C) gene polymorphism and risk of uterine fibroids in Egyptian women 环氧化酶-2 （- 765G>C）基因多态性与埃及妇女子宫肌瘤的风险

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2026-03-01 Epub Date: 2025-12-19 DOI: 10.1016/j.genrep.2025.102417

Afaf M Elsaid , Yasmeen M Elsayed , Ali H. Abu Almaaty , Mohamed I. Eid , Ahmed K. Hasan

Aim

Uterine fibroids (UFs), commonly referred to as “leiomyomas,” are the most prevalent benign tumors in premenopausal females. They are often associated with infertility and recurrent miscarriage. The objective of this study was to assess the potential of cycloxygenase-2 (COX-2) gene polymorphism as a risk factor for fibroid development.

Patients and methods

This study involved 200 individuals, categorized into two groups: 100 patients with fibroids and 100 age-matched healthy females serving as the control group. Genotyping of the COX-2 (−765G>C) single nucleotide polymorphism (SNP) was conducted using the tetra-amplification refractory mutation system (T-ARMS) PCR technique.

Results

The genotype distribution patterns of the COX-2-765G>C SNP exhibited substantial variances between patients and control groups, with patients demonstrating a higher prevalence of the GC genotype (78 % versus 48 %, p < 0.001) and an increased frequency of the C-allele (47 % versus 26 %, p < 0.001). The examination of the dominant and over dominant models of the COX-2 (G>C-765) mutation demonstrated a substantial correlation with fibroid risk in comparison to controls (p < 0.001 and 0.001, respectively). The incidence of hysterectomy following fibroid diagnosis was markedly elevated in the dominant model group 3 (p = 0.02), whereas 3the incidence of myomectomy was much greater in the recessive model group (p < 0.001).

Conclusions

A substantial correlation was identified between the −765G>C SNP in the COX-2 gene and uterine leiomyoma in Egyptian females, indicating that its potential regulatory role merits further examination. Identifying the genes associated with UFs may result in novel medications and maybe the avoidance of this condition.

子宫肌瘤（UFs），通常被称为“平滑肌瘤”，是绝经前女性最常见的良性肿瘤。它们通常与不孕症和复发性流产有关。本研究的目的是评估环氧化酶-2 （COX-2）基因多态性作为肌瘤发展的危险因素的潜力。患者和方法本研究涉及200人，分为两组：100名肌瘤患者和100名年龄匹配的健康女性作为对照组。采用T-ARMS PCR技术对COX-2（−765G>；C）单核苷酸多态性（SNP）进行基因分型。结果COX-2-765G>；C SNP的基因型分布模式在患者和对照组之间存在显著差异，患者表现出更高的GC基因型患病率（78%对48%，p < 0.001）， C等位基因的频率增加（47%对26%，p < 0.001）。对COX-2 （G>C-765）突变的显性和超显性模型的检查显示，与对照组相比，COX-2突变与肌瘤风险存在显著相关性（p <；分别为0.001和0.001）。显性模型组3诊断为肌瘤后子宫切除术的发生率明显升高（p = 0.02），而隐性模型组3诊断为肌瘤切除的发生率明显升高（p < 0.001）。结论COX-2基因- 765G>；C SNP与埃及女性子宫平滑肌瘤存在显著相关性，提示其潜在的调控作用值得进一步研究。确定与UFs相关的基因可能会导致新的药物，也许可以避免这种情况。

{"title":"Cycloxygenase-2 (−765G>C) gene polymorphism and risk of uterine fibroids in Egyptian women","authors":"Afaf M Elsaid , Yasmeen M Elsayed , Ali H. Abu Almaaty , Mohamed I. Eid , Ahmed K. Hasan","doi":"10.1016/j.genrep.2025.102417","DOIUrl":"10.1016/j.genrep.2025.102417","url":null,"abstract":"<div><h3>Aim</h3><div>Uterine fibroids (UFs), commonly referred to as “leiomyomas,” are the most prevalent benign tumors in premenopausal females. They are often associated with infertility and recurrent miscarriage. The objective of this study was to assess the potential of cycloxygenase-2 (COX-2) gene polymorphism as a risk factor for fibroid development.</div></div><div><h3>Patients and methods</h3><div>This study involved 200 individuals, categorized into two groups: 100 patients with fibroids and 100 age-matched healthy females serving as the control group. Genotyping of the COX-2 (−765G>C) single nucleotide polymorphism (SNP) was conducted using the tetra-amplification refractory mutation system (T-ARMS) PCR technique.</div></div><div><h3>Results</h3><div>The genotype distribution patterns of the <em>COX-2</em>-765G>C SNP exhibited substantial variances between patients and control groups, with patients demonstrating a higher prevalence of the GC genotype (78 % versus 48 %, <em>p</em> < 0.001) and an increased frequency of the C-allele (47 % versus 26 %, p < 0.001). The examination of the dominant and over dominant models of the COX-2 (G>C-765) mutation demonstrated a substantial correlation with fibroid risk in comparison to controls (<em>p</em> < 0.001 and 0.001, respectively). The incidence of hysterectomy following fibroid diagnosis was markedly elevated in the dominant model group 3 (<em>p</em> = 0.02), whereas 3the incidence of myomectomy was much greater in the recessive model group (<em>p</em> < 0.001).</div></div><div><h3>Conclusions</h3><div>A substantial correlation was identified between the −765G>C SNP in the COX-2 gene and uterine leiomyoma in Egyptian females, indicating that its potential regulatory role merits further examination. Identifying the genes associated with UFs may result in novel medications and maybe the avoidance of this condition.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102417"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145921115","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

Increasing autologous conditioned serum growth factors and cytokine concentration: The use of poly lactic acid coated beads 提高自体条件血清生长因子和细胞因子浓度：使用聚乳酸包被珠

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2026-03-01 Epub Date: 2025-12-05 DOI: 10.1016/j.genrep.2025.102408

Majid Zamani , Saeid Kaviani , Mehdi Yousefi , Saeid Abroun , Mohammad Hojjat-Farsangi , Behzad Pourabbas

Introduction

Blood derivatives are widely used in regenerative medicine. There are various types of blood derivatives, each with distinct characteristics. Autologous conditioned serum (ACS) is used in regenerative medicine, particularly for inflammatory conditions such as osteoarthritis, due to its content of interleukin-1 receptor antagonist (IL-1Ra). The aim of this study was to produce ACS using polylactic acid (PLA)-coated beads and to evaluate their effect on increasing the biomolecule content of this blood derivative.

Methods

Blood samples were collected from seven healthy volunteers into three tubes: one without beads, one with uncoated beads, and one with PLA-coated beads. The tube without beads was centrifuged immediately, while the tubes containing beads were incubated for 6 h at 37 °C before centrifugation. Serum samples were analyzed for sodium, potassium, calcium, and magnesium ion concentrations, total protein, vascular endothelial growth factor (VEGF), epidermal growth factor (EGF), transforming growth factor-beta (TGF-β), platelet-derived growth factor (PDGF), and the cytokines interleukin-1β (IL-1β) and IL-1Ra, as well as the IL-1Ra/IL-1β ratio.

Results

The concentrations of VEGF, TGF-β, EGF, PDGF, IL-1β, IL-1Ra, and the IL-1Ra/IL-1β ratio were significantly higher in ACS produced with PLA-coated beads compared with ACS prepared using uncoated beads and serum (p < 0.05). However, no significant differences were observed in total protein or ion concentrations among the groups (p > 0.05).

Conclusion

PLA-coated beads increased the concentrations of growth factors and cytokines in ACS. Further studies are needed to evaluate the therapeutic effectiveness of ACS produced with PLA-coated beads in clinical applications.

血液衍生物在再生医学中应用广泛。血液衍生物有多种类型，每种都有不同的特征。自体条件血清（ACS）由于其白细胞介素-1受体拮抗剂（IL-1Ra）的含量而被用于再生医学，特别是骨关节炎等炎症性疾病。本研究的目的是利用聚乳酸（PLA）包被珠制备ACS，并评价其对提高该血液衍生物生物分子含量的作用。方法将7名健康志愿者的血液分为三组，一组为无珠管，一组为未涂膜珠管，一组为涂膜珠管。无珠管立即离心，含珠管37℃孵育6 h后离心。分析血清样品的钠、钾、钙、镁离子浓度、总蛋白、血管内皮生长因子（VEGF）、表皮生长因子（EGF）、转化生长因子-β (TGF-β)、血小板源性生长因子（PDGF）、细胞因子白介素-1β (IL-1β)和IL-1Ra，以及IL-1Ra/IL-1β比值。结果与未包被微球及血清制备的ACS相比，包被微球制备的ACS中VEGF、TGF-β、EGF、PDGF、IL-1β、IL-1Ra浓度及IL-1Ra/IL-1β比值显著升高（p < 0.05）。但各组间总蛋白和离子浓度差异无统计学意义（p > 0.05）。结论聚乳酸包膜珠可提高ACS细胞中生长因子和细胞因子的浓度。在临床应用中，用pla包覆微球制备ACS的疗效有待进一步研究。

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引用次数: 0