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Identification of quantitative trait loci for abdominal muscle content in red swamp crayfish (Procambarus clarkii) and potential application in molecular breeding

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2025-04-22 DOI: 10.1016/j.gene.2025.149528

Sun Junxiao , Bo Peng , Tan Yunfei , Bai Xufeng

Red swamp crayfish (Procambarus clarkii) is a prized aquatic product among consumers, abdominal muscle content being a crucial economic trait. Therefore, there is an urgent need to exploit the genetic basis of crayfish abdominal muscle content for breeding. In the present study, Quantitative Trait Locus (QTL) mapping was performed using 10 different populations (Pop1–Pop10), raised in water tanks, ponds, and rice-crayfish fields, using single- and multiple-culture models of full-sib families and natural populations, from 2020 to 2023. In total, 22 QTLs for abdominal muscle content were identified with population repetitions, explaining the phenotypic variation in the range of 2.7 %–21.3 %, six of which were heterosis sites. Additionally, nine of the 22 QTLs had the consistent genotype with phenotypic effect in eight natural populations (Pop3–Pop10), where the proportion of genotypes with phenotypic effect of the QTL for abdominal muscle weight / body weight (MW/BW) and chelae weight / body weight (CHW/BW) in the group including the top 10 % of the yield of abdominal muscle content individuals (High group) was significantly higher than that in the group including the bottom 10 % of the yield of abdominal muscle content individuals (Low group), respectively (P < 0.01). These results suggest that the QTLs identified repeatedly, especially the nine QTLs, are reliable candidate loci for abdominal muscle content, which is immensely important for the genetic analysis of abdominal muscle content in red swamp crayfish and molecular marker-assisted breeding.

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引用次数: 0

Association of intronic variants (Apal and Bsml) of vitamin D receptor gene with uterine leiomyoma among North Indian women

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2025-04-22 DOI: 10.1016/j.gene.2025.149519

Sonal Tiwari , Rakesh K. Gupta , Sakshi Agarwal , Amita Diwakar , Arun K. Bind , Pawan K. Dubey

Background

Understanding the genetic factors involved in the Uterine Leiomyoma (UL) development is crucial for exploring the complexities of UL disorders. This study aimed to examine genetic association between UL incidence and intronic polymorphisms of vitamin D receptor gene in north Indian population.

Methodology

Total 200 subjects (100 healthy women and 100 with uterine leiomyomas) of age- and gender-matched control subjects, were genotyped for BsmI (rs1544410) and ApaI (rs7975232) polymorphisms in the VDR gene using TETRA ARMS PCR, followed by Sanger sequencing validation. Levels of VDR mRNA and vitamin D were also assessed through quantitative real-time PCR and ELISA respectively. The association of these variants with leiomyomas was analyzed, along with clinico-pathological (obesity) association.

Results

ApaI revealed a significant association with UL, especially for the TG genotype (OR = 2.38; 95 % CI, 1.26–––4.51; p = 0.003). In a similar manner, ApaI is associated with an increased risk for UL with all three genetic models. Comparing VDR ApaI polymorphism between obese and non-obese patients revealed that AC genotype was significantly (OR = 3.71; 95 % CI, 1.53––9.11; p = 0.002) associated with a reduced risk of UL in non-obese patients. The expression of VDR mRNA was two times lower in patients with UL (p < 0.001), along with decreased serum vitamin D levels (p < 0.001). A significant association was also observed between VDR ApaI variant with reduced mRNA expression, vitamin D level and obesity. However, no associations were observed among Bsm1 VDR genotypes and ULs.

Conclusion

This study found significant association between the VDR intronic ApaI polymorphism (rs7975232) and the incidence of UL. This VDR variant showed significant association with reduced VDR mRNA expression and serum vitamin D levels in UL patients. However, no significant association was observed between BsmI VDR polymorphism (rs1544410) and UL in North Indian women.

{"title":"Association of intronic variants (Apal and Bsml) of vitamin D receptor gene with uterine leiomyoma among North Indian women","authors":"Sonal Tiwari , Rakesh K. Gupta , Sakshi Agarwal , Amita Diwakar , Arun K. Bind , Pawan K. Dubey","doi":"10.1016/j.gene.2025.149519","DOIUrl":"10.1016/j.gene.2025.149519","url":null,"abstract":"<div><h3>Background</h3><div>Understanding the genetic factors involved in the Uterine Leiomyoma (UL) development is crucial for exploring the complexities of UL disorders. This study aimed to examine genetic association between UL incidence and intronic polymorphisms of vitamin D receptor gene in north Indian population<em>.</em></div></div><div><h3>Methodology</h3><div>Total 200 subjects (100 healthy women and 100 with uterine leiomyomas) of age- and gender-matched control subjects, were genotyped for BsmI (rs1544410) and ApaI (rs7975232) polymorphisms in the VDR gene using TETRA ARMS PCR, followed by Sanger sequencing validation. Levels of VDR mRNA and vitamin D were also assessed through quantitative real-time PCR and ELISA respectively. The association of these variants with leiomyomas was analyzed, along with clinico-pathological (obesity) association.</div></div><div><h3>Results</h3><div><em>ApaI</em> revealed a significant association with UL, especially for the TG genotype (OR = 2.38; 95 % CI, 1.26–––4.51; <em>p</em> = 0.003). In a similar manner, <em>ApaI</em> is associated with an increased risk for UL with all three genetic models. Comparing VDR ApaI polymorphism between obese and non-obese patients revealed that AC genotype was significantly (OR = 3.71; 95 % CI, 1.53––9.11; <em>p</em> = 0.002) associated with a reduced risk of UL in non-obese patients. The expression of VDR mRNA was two times lower in patients with UL (<em>p</em> < 0.001), along with decreased serum vitamin D levels (<em>p</em> < 0.001). A significant association was also observed between VDR <em>ApaI</em> variant with reduced mRNA expression, vitamin D level and obesity. However, no associations were observed amongVDR genotypes and ULs.</div></div><div><h3>Conclusion</h3><div>This study found significant association between the VDR intronic ApaI polymorphism (rs7975232) and the incidence of UL. This VDR variant showed significant association with reduced VDR mRNA expression and serum vitamin D levels in UL patients. However, no significant association was observed between BsmI VDR polymorphism (rs1544410) and UL in North Indian women.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"959 ","pages":"Article 149519"},"PeriodicalIF":2.6,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143870043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Exploring the functional and prognostic roles of EPHX4 in pancreatic cancer: Insights from bioinformatics and experimental validation

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2025-04-19 DOI: 10.1016/j.gene.2025.149504

Shaoyang Huang , Dandan Gu , Wei Xiong

Background

Epoxide hydrolase-4 (EPHX4) belongs to the epoxide hydrolase enzyme family, but its biological function remains unclear, especially its potential involvement in the development of pancreatic tumours. This research sought to examine the function of EPHX4 in pancreatic adenocarcinoma (PAAD).

Methods

The expression of EPHX4 across cancers was examined through The Cancer Genome Atlas (TCGA). Bioinformatics was employed, leveraging multiple databases to investigate EPHX4 gene expression in pancreatic cancer and its association with survival prognosis, functional enrichment, immune infiltration, tumour mutation load, and drug sensitivity, among other variables. To evaluate EPHX4 expression in PAAD cells, Western blotting and reverse transcription quantitative PCR were used. A series of in vitro functional experiments was performed to assess the proliferation, migration, and invasion of PAAD cells.

Results

EPHX4 expression was markedly elevated in a number of malignancies, including PAAD, and was associated with patient sex, clinical stage, and metastasis to the lymph nodes. High EPHX4 expression was significantly associated with a worse outcome in PAAD patients. According to functional and enrichment studies, EPHX4 is involved in many signalling pathways linked to cancer. The study of immune infiltration revealed that EPHX4 was connected to the existence of a variety of immune cells inside the tumour. Our study revealed that EPHX4 knockdown significantly decreased PAAD cell migration, proliferation, and invasion.

Conclusion

EPHX4 is highly expressed in PAAD and independently predicts poor survival. Functional experiments demonstrate its tumor-promoting effects. Its involvement in multiple cancer-related signaling pathways and immune regulation mechanisms highlights the dual prognostic and therapeutic potential of EPHX4 in PAAD.

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引用次数: 0

Hyperglycaemia-induced fibrotic and inflammatory gene expression alterations in lung epithelial cells: Implications for pulmonary fibrosis development

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2025-04-18 DOI: 10.1016/j.gene.2025.149520

Priya Bhardwaj, Mulaka Maruthi

Hyperglycaemia has a significant long-term impact on multiple organ systems, including renal, cardiovascular, central nervous, hepatic and ocular systems, leading to the gradual loss of their functional abilities. Numerous studies have elucidated the pathophysiology, etiology, and consequences of hyperglycaemia on these organs. The pulmonary system is also considered as a target of hyperglycaemia, several factors cause lung injury which leads to the development of pulmonary fibrosis, a chronic fibrotic disease with usual interstitial pneumonia patterns. Nevertheless, the effects of hyperglycaemia on the development of pulmonary fibrosis remain poorly understood. We intend to understand the cellular and morphological changes, and the progression of fibrosis in lung epithelial cells subjected to hyperglycaemia. Our experimental data indicate that hyperglycaemia induces fibrotic and inflammatory alterations in cultured lung epithelial cells. These alterations are facilitated by the upregulation of genes related to fibrosis and inflammation, promoting cell proliferation and migration. Further research is required to comprehensively elucidate the impact of hyperglycaemia during lung injury progression of fibrosis, these findings may reveal novel mechanisms that may help in the assessment and treatment of lung ailments in people with hyperglycaemia.

高血糖对多个器官系统，包括肾脏、心血管、中枢神经、肝脏和眼部系统有长期的重大影响，导致其功能逐渐丧失。大量研究阐明了高血糖对这些器官的病理生理学、病因学和后果。肺部系统也被认为是高血糖的目标，多种因素会造成肺部损伤，导致肺纤维化的发生，这是一种慢性纤维化疾病，具有常见的间质性肺炎模式。然而，人们对高血糖对肺纤维化发展的影响仍然知之甚少。我们希望了解高血糖下肺上皮细胞的细胞和形态变化以及纤维化的进展。我们的实验数据表明，高血糖会诱导培养的肺上皮细胞发生纤维化和炎症性改变。纤维化和炎症相关基因的上调促进了这些改变，并促进了细胞的增殖和迁移。要全面阐明高血糖在肺损伤纤维化进展过程中的影响，还需要进一步的研究，这些发现可能会揭示新的机制，有助于评估和治疗高血糖患者的肺部疾病。

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引用次数: 0

RNA methylation: A new perspective in osteoarthritis research

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2025-04-18 DOI: 10.1016/j.gene.2025.149518

Guihao Zheng , Meifeng Lu , Yulong Ouyang , Guicai Sun

Osteoarthritis (OA) is a prevalent degenerative joint disease characterized by cartilage degradation, osteophyte formation, and joint dysfunction, significantly impairing the quality of life in the elderly population. Recently, RNA modifications, as a dynamic and reversible epigenetic modification, have emerged as critical players in the onset and progression of OA. This review systematically summarizes the major types of RNA modifications involved in OA, including N6-methyladenosine (m6A), 5-methylcytosine (m5C), and 7-methylguanosine (m7G), and explores their roles in regulating chondrocyte autophagy, inflammatory responses, and key signaling pathways. with a primary focus on RNA methylation. Special emphasis is placed on the dynamic regulatory functions of key methyltransferases (e.g., METTL3, FTO, WTAP) and their potential contributions to OA pathogenesis. Furthermore, we address current research hotspots and controversies in the field, proposing future research directions, such as leveraging single-cell sequencing to decipher dynamic RNA modification changes during OA progression and uncovering the cooperative networks among various RNA modifications. Advancing our understanding of the biological roles and mechanisms of RNA modifications holds promise for innovative strategies in the early diagnosis, disease stratification, and targeted therapy of OA.

{"title":"RNA methylation: A new perspective in osteoarthritis research","authors":"Guihao Zheng , Meifeng Lu , Yulong Ouyang , Guicai Sun","doi":"10.1016/j.gene.2025.149518","DOIUrl":"10.1016/j.gene.2025.149518","url":null,"abstract":"<div><div>Osteoarthritis (OA) is a prevalent degenerative joint disease characterized by cartilage degradation, osteophyte formation, and joint dysfunction, significantly impairing the quality of life in the elderly population. Recently, RNA modifications, as a dynamic and reversible epigenetic modification, have emerged as critical players in the onset and progression of OA. This review systematically summarizes the major types of RNA modifications involved in OA, including N6-methyladenosine (m6A), 5-methylcytosine (m5C), and 7-methylguanosine (m7G), and explores their roles in regulating chondrocyte autophagy, inflammatory responses, and key signaling pathways. with a primary focus on RNA methylation. Special emphasis is placed on the dynamic regulatory functions of key methyltransferases (e.g., METTL3, FTO, WTAP) and their potential contributions to OA pathogenesis. Furthermore, we address current research hotspots and controversies in the field, proposing future research directions, such as leveraging single-cell sequencing to decipher dynamic RNA modification changes during OA progression and uncovering the cooperative networks among various RNA modifications. Advancing our understanding of the biological roles and mechanisms of RNA modifications holds promise for innovative strategies in the early diagnosis, disease stratification, and targeted therapy of OA.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"959 ","pages":"Article 149518"},"PeriodicalIF":2.6,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143851597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Molecular identification of F1 hybrids of Fraxinus mandshurica × Fraxinus chinensis using SSR markers

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2025-04-16 DOI: 10.1016/j.gene.2025.149507

Xiaonuo Liu , Huiyuan Xing , Fanqiu Kong , Kaifang Zhang , Yuan Cao , Xinyue Guo , Qing Li , Jingxuan Wang , Tianzhong Jing , Yaguang Zhan , Fenghui Qi

To breed new Fraxinus varieties with superior traits including rapid growth, drought tolerance, and salinity resistance, this study established 480 F₁ interspecific hybrid progeny through controlled pollination, using Fraxinus mandshurica Rupr. as the female parent and Fraxinus chinensis Roxb. as the male parent. Early-stage hybrid identification was performed using SSR (simple sequence repeat) markers. From 37 candidate SSR primers, two highly polymorphic pairs were selected for hybrid verification via polyacrylamide gel electrophoresis. Of the 480 offspring, 280 were confirmed as true hybrids, yielding a hybrid purity of 58.33 %. Primer pair Fm19 detected 62.29 % of hybrids, with partial overlap (shared detection) with primer pair Fc1. The polymorphism information content (PIC) ranged from 0.93 to 0.97 (mean: 0.95). Polymorphic alleles from both primers were converted into binary data (1 = present, 0 = absent) to generate unique molecular IDs for 144 hybrid offspring. This work established an efficient SSR-based method for early hybrid identification in F. mandshurica and F. chinensis, facilitating accelerated breeding and variety development.

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引用次数: 0

Unveiling transposon-mediated multidrug resistance in OXA-23-producing Acinetobacter baumannii ST79/ST233 subclone KL9-OCL10 in Brazil 揭示巴西产 OXA-23 鲍曼不动杆菌 ST79/ST233 亚克隆 KL9-OCL10 中转座子介导的多药耐药性

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2025-04-15 DOI: 10.1016/j.gene.2025.149489

João Pedro Rueda Furlan , Micaela Santana Ramos , Rafael da Silva Rosa , Lucas David Rodrigues dos Santos , Eduardo Angelino Savazzi , Eliana Guedes Stehling

The global dissemination of antimicrobial resistance (AMR) is a critical public health concern. The persistence of AMR in the environmental sector, exemplified by carbapenem-resistant Acinetobacter baumannii (CRAB), underscores the critical interconnectedness between human activity, environmental contamination, and the global spread of multidrug-resistant bacterial pathogens. In this study, A. baumannii strain EW779 was isolated from a water sample from a stream impacted by anthropogenic activities in São Paulo State, Brazil, exhibited an extensive drug resistance profile, and harbored chromosome-borne bla_OXA-23 gene. Genomic analysis revealed that EW779 belongs to the hospital-associated high-risk ST79/ST233 subclone KL9-OCL10. This strain harbored a wide resistome associated with mobile genetic elements such as Tn2008, Tn7::In2-4, and Tn3. Virulence genes mainly related to biofilm formation, immune evasion, and cell invasion were found, evidencing its pathogenicity as putative hypervirulent. Comparative genomic analysis revealed that many AMR and virulence traits were shared among ST79/ST233 subclone KL9-OCL10 circulating in Brazil, indicating the occurrence of a successful and potentially epidemic subclone capable of spreading across different regions. The analysis of single nucleotide polymorphism differences among all ST79/ST233 subclone KL9-OCL10 showed a genetic similarity among strains from the same Brazilian state, indicating geographic separation. These findings highlight the environmental persistence and dissemination of a hospital-associated high-risk CRAB clone, emphasizing their epidemiological importance. Therefore, this study contributes to understanding the genomic dynamics of ST79/ST233 subclone KL9-OCL10 and reinforces the need for monitoring the spread of CRAB strains across clinical and environmental settings.

抗菌素耐药性（AMR）在全球的传播是一个重要的公共卫生问题。以耐碳青霉烯类鲍曼不动杆菌（CRAB）为例，AMR在环境领域的持续存在凸显了人类活动、环境污染和耐多药细菌病原体全球传播之间的重要联系。本研究从巴西圣保罗州受人为活动影响的溪流水样中分离出鲍曼不动杆菌 EW779 菌株，该菌株表现出广泛的耐药性特征，并携带染色体上的 blaOXA-23 基因。基因组分析表明，EW779 属于医院相关的高风险 ST79/ST233 亚克隆 KL9-OCL10。该菌株具有广泛的抗性基因组，与 Tn2008、Tn7::In2-4 和 Tn3 等移动遗传因子有关。发现的致病基因主要与生物膜形成、免疫逃避和细胞侵袭有关，证明其致病性为假定的超病毒性。基因组比较分析表明，在巴西流行的 ST79/ST233 亚克隆 KL9-OCL10 之间共享许多 AMR 和毒力特征，这表明存在一个成功的、可能在不同地区传播的亚克隆。对所有 ST79/ST233 亚克隆 KL9-OCL10 的单核苷酸多态性差异进行的分析表明，巴西同一州的菌株之间存在遗传相似性，表明存在地理分离。这些发现突显了与医院相关的高风险 CRAB 克隆的环境持久性和传播性，强调了其流行病学的重要性。因此，这项研究有助于了解 ST79/ST233 亚克隆 KL9-OCL10 的基因组动态，并加强了监测 CRAB 菌株在临床和环境中传播的必要性。

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引用次数: 0

Forkhead Box M1 isoform 3 overexpression is associated with malignancy grade in adult-type diffuse gliomas

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2025-04-13 DOI: 10.1016/j.gene.2025.149502

Iris Angélica Feria-Romero , Bárbara Nettel-Rueda , Marco Antonio Rodríguez-Florido , Guillermo Castellanos-Pallares , Jesús Cienfuegos-Meza , Sandra Orozco-Suárez , Gerardo Guinto-Balanzar , Consuelo Escamilla-Nuñez , Israel Grijalva-Otero

Background

Forkhead Box M1 is a transcription factor that is overexpressed in both its mRNA and its protein in various types of cancer. The active Forkhead Box M1 isoform 3 (FOXM1*3) is, moreover, associated with cancer progression. However, little is known about the role of this isoform concerning the degree of malignancy in brain gliomas. This study evaluated the association between overexpression of the FOXM1*3 and the degree of malignancy in adult-type diffuse gliomas (ATDGs).

Methods

We conducted a prospective study involving 81 samples from patients with ATDGs and ten samples from healthy control cortices. Quantification of the FOXM1*3 transcript and the housekeeping gene, importin 8 (IPO8), was performed using qPCR with Taqman probes. Tumor samples were classified based on their degree of malignancy and cell lineage. Progression-free survival (PFS) was observed through long-term follow-up. The data were then analyzed using the Kruskal-Wallis, Mann-Whitney U and log-rank (Mantel-Cox) tests.

Results

The most frequent type of cell differentiation was astrocytic, with astrocytomas and glioblastomas accounting for 80.2 % of cases. The primary histopathological-molecular diagnosis group was glioblastoma, at 35.8 %. There was a significant difference in FOXM1*3 expression between the control and glioma groups (p < 0.001). Transcript expression showed significant differences among grade-2, −3, and −4 gliomas (p < 0.005–0.0001). Significant differences were also detected between grade-2 and −3 astrocytomas (p < 0.005) and glioblastomas (p < 0.0001), but not between astrocytomas and oligodendrogliomas of the same grade.

Conclusion

We observed that overexpression of FOXM1*3 can rectify intra-observer discordance in determining the malignancy grade of gliomas, particularly in grade 3. It can be considered a supplementary tool.

{"title":"Forkhead Box M1 isoform 3 overexpression is associated with malignancy grade in adult-type diffuse gliomas","authors":"Iris Angélica Feria-Romero , Bárbara Nettel-Rueda , Marco Antonio Rodríguez-Florido , Guillermo Castellanos-Pallares , Jesús Cienfuegos-Meza , Sandra Orozco-Suárez , Gerardo Guinto-Balanzar , Consuelo Escamilla-Nuñez , Israel Grijalva-Otero","doi":"10.1016/j.gene.2025.149502","DOIUrl":"10.1016/j.gene.2025.149502","url":null,"abstract":"<div><h3>Background</h3><div><em>Forkhead Box M1</em> is a transcription factor that is overexpressed in both its mRNA and its protein in various types of cancer. The active <em>Forkhead Box M1 isoform 3 (FOXM1*3)</em> is, moreover, associated with cancer progression. However, little is known about the role of this isoform concerning the degree of malignancy in brain gliomas. This study evaluated the association between overexpression of the <em>FOXM1*3</em> and the degree of malignancy in adult-type diffuse gliomas (ATDGs).</div></div><div><h3>Methods</h3><div>We conducted a prospective study involving 81 samples from patients with ATDGs and ten samples from healthy control cortices. Quantification of the FOXM1*3 transcript and the housekeeping gene, importin 8 (<em>IPO8</em>), was performed using qPCR with Taqman probes. Tumor samples were classified based on their degree of malignancy and cell lineage. Progression-free survival (PFS) was observed through long-term follow-up. The data were then analyzed using the Kruskal-Wallis, Mann-Whitney U and log-rank (Mantel-Cox) tests.</div></div><div><h3>Results</h3><div>The most frequent type of cell differentiation was astrocytic, with astrocytomas and glioblastomas accounting for 80.2 % of cases. The primary histopathological-molecular diagnosis group was glioblastoma, at 35.8 %. There was a significant difference in <em>FOXM1*3</em> expression between the control and glioma groups (p < 0.001). Transcript expression showed significant differences among grade-2, −3, and −4 gliomas (p < 0.005–0.0001). Significant differences were also detected between grade-2 and −3 astrocytomas (p < 0.005) and glioblastomas (p < 0.0001), but not between astrocytomas and oligodendrogliomas of the same grade.</div></div><div><h3>Conclusion</h3><div>We observed that overexpression of <em>FOXM1*3</em> can rectify intra-observer discordance in determining the malignancy grade of gliomas, particularly in grade 3. It can be considered a supplementary tool.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"958 ","pages":"Article 149502"},"PeriodicalIF":2.6,"publicationDate":"2025-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143838807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The PD-L1 Promoter Methylation Predicts Gene And Protein Expression Levels in Urothelial Carcinoma

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2025-04-12 DOI: 10.1016/j.gene.2025.149503

Cansu Barış Moğul , Mesut Berkan Duran , Vildan Caner , Nilay Şen Türk , Ömer Levent Tuncay

We aimed to clarify the role of PD-L1 promoter methylation in bladder cancer by analyzing PD-L1 methylation and mRNA expression in FFPE samples, along with PD-L1 mRNA and protein levels in urine samples from bladder urothelial carcinoma patients.

We analyzed PD-L1 promoter methylation in 43 bladder urothelial carcinoma tissue samples and 41 non-malignant bladder tissues using methylation-sensitive high-resolution melting analysis to assess two CpG islands (cg15837913, cg19724470). PD-L1 mRNA expression in tissues and urine samples, along with PD-L1 protein levels in urine, were evaluated.

The bladder urothelial carcinoma group showed significantly higher methylation rates for cg19724470 and cg15837913 compared to controls (P = 0.016, P = 0.049 respectively). In the patient group, tissue PD-L1 mRNA expression was 15.22 times higher and urinary PD-L1 mRNA expression 6.56 times higher in the cg19724470 unmethylated group compared to the methylated group. Urinary PD-L1 protein concentration was twice as high in the cg19724470 unmethylated group compared to the methylated group. In the patients, tissue PD-L1 mRNA expression was 4.58 times higher and urinary PD-L1 mRNA expression 2.58 times higher in the cg15837913 unmethylated group compared to the methylated group. Moreover, the urinary PD-L1 protein concentration was 1.7 times higher in the cg15837913 unmethylated group than in the methylated group (P = 0.036). A positive correlation was observed between tissue PD-L1 mRNA and both urine PD-L1 mRNA and protein levels and between urine PD-L1 mRNA and protein levels.

This study suggests that PD-L1 methylation may be a key epigenetic regulator influencing PD-L1 expression and disease pathogenesis in bladder urothelial carcinoma.

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引用次数: 0

RNA production of IgG receptors is present in podocytes and varies depending on glycemia – preliminary results on Fc gamma receptor presence in kidney cells 荚膜细胞中存在产生 IgG 受体的 RNA，并随血糖变化而变化--关于肾细胞中存在 Fc γ 受体的初步结果

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2025-04-12 DOI: 10.1016/j.gene.2025.149501

Marlena Typiak , Aleksandra Sobczak , Zofia Dobrzyńska , Moin A. Saleem , Anna Jaźwińska

Diabetes results from high blood glucose level and is one of the four main noncommunicable diseases. It is also a major cause of kidney failure. An inflammation of renal tissue during diabetic kidney disease (DKD) is aimed to resolve the ongoing homeostatic imbalance, however it leads to renal tissue injury. Because, the kidney glomerulus, where the blood filtration occurs, is an immunologically privileged place with very few leukocytes within, it was suspected that cells within the glomerulus possess immunological features and may initiate or increase the inflammation of renal tissue. One of the cell types in glomerulus, podocytes, are not only crucial for plasma filtration, but also can phagocytose and were described as professional antigen presenting cells. Due to an increased level of IgG-based immune complexes generated in the blood of diabetic patients and deposited in their kidneys, it was also proposed, that podocytes may express receptors for Fc fragment of IgG (FcγRs), which initiate phagocytosis. Many analyses point to that, but it has never been tested before. Thus, in the current study, we have analyzed mRNA expression levels of FcγR-coding genes in human podocytes, compared it to their expression levels in other non-immune epithelial cells (ovarian cells) and to leukocytes, as well as compared FcγR-coding genes’ expression levels in podocytes cultured in a medium with standard versus high glucose concentration. The detection of FcγR expression in podocytes could help to understand the pathomechanism of renal tissue inflammation during DKD and subsequently help to prevent or minimize it.

糖尿病由高血糖引起，是四大非传染性疾病之一。它也是导致肾衰竭的主要原因。糖尿病肾病（DKD）期间的肾组织炎症旨在解决持续的体内平衡失调问题，但却会导致肾组织损伤。由于肾小球是血液过滤的地方，而肾小球内白细胞极少，因此人们怀疑肾小球内的细胞具有免疫学特征，可能引发或加剧肾组织炎症。肾小球中的一种细胞类型--荚膜细胞，不仅对血浆过滤至关重要，而且还具有吞噬功能，被描述为专业的抗原呈递细胞。由于糖尿病患者血液中产生并沉积在肾脏中的 IgG 免疫复合物水平升高，也有人提出，荚膜细胞可能表达 IgG 的 Fc 片段（FcγRs）受体，从而启动吞噬作用。许多分析表明了这一点，但以前从未进行过测试。因此，在本研究中，我们分析了人类荚膜细胞中 FcγR 编码基因的 mRNA 表达水平，将其与其他非免疫上皮细胞（卵巢细胞）和白细胞的表达水平进行了比较，并比较了在标准和高浓度葡萄糖培养基中培养的荚膜细胞中 FcγR 编码基因的表达水平。检测荚膜细胞中 FcγR 的表达有助于了解 DKD 期间肾组织炎症的病理机制，进而帮助预防或减少肾组织炎症。

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引用次数: 0