Gene Reports最新文献

{"title":"Reduction in peripheral expression of the TMLHE gene in Turkish youth with autism spectrum disorder","authors":"İpek Kuşcu Özücer ,&nbsp;Alper Alnak ,&nbsp;Hilal Akköprü ,&nbsp;Zeynep Nur Karadoğan ,&nbsp;Ahmet Okay Çağlayan ,&nbsp;Saliha B. Selman ,&nbsp;Murat Coskun","doi":"10.1016/j.genrep.2025.102391","DOIUrl":"10.1016/j.genrep.2025.102391","url":null,"abstract":"<div><h3>Background</h3><div>Trimethyllysine Hydroxylase, Epsilon (<em>TMLHE</em>) gene mutations have been clinically associated with an increased risk of autism spectrum disorder (ASD). This study aimed to evaluate the peripheral expression profile of the <em>TMLHE</em> gene and its association with ASD phenotype in a clinical sample of youth diagnosed with ASD.</div></div><div><h3>Methods</h3><div>The study sample included 205 participants (ASD: <em>n</em> = 100; controls: <em>n</em> = 105, <em>M</em>_<em>age</em> = 9.25 years, <em>SD</em> = 3.74). The Childhood Autism Rating Scale and the Aberrant Behavior Checklist were administered to assess the severity of ASD and associated symptoms. Peripheral blood samples were collected from all participants, and <em>TMLHE</em> gene expression levels were analyzed using quantitative reverse transcription PCR (RT-qPCR).</div></div><div><h3>Results</h3><div><em>TMLHE</em> gene expression was significantly downregulated in the ASD group compared to controls (<em>p</em> &lt; .001). Notably, significant correlations were identified between <em>TMLHE</em> expression levels and the CARS subscales for object use (<em>p</em> = .043) and listening response (<em>p</em> = .038).</div></div><div><h3>Conclusion</h3><div>This study represents the first case-control investigation of peripheral <em>TMLHE</em> gene expression in ASD, revealing that <em>TMLHE</em> expression is reduced in children with ASD compared to typically developing peers. These findings contribute to a deeper understanding of the potential implications of <em>TMLHE</em> gene mutations in the etiology of ASD.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102391"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145681586","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}

{"title":"Antimicrobial resistance profile, resistance gene distribution, and genotypic characterization of clinical Pseudomonas aeruginosa isolates from hospitals in northern Iran","authors":"Shayan Majidi ,&nbsp;Fatemeh Zaboli ,&nbsp;Rahem Khoshbakht ,&nbsp;Esmail Fattahi ,&nbsp;Mojtaba Khosravi","doi":"10.1016/j.genrep.2025.102409","DOIUrl":"10.1016/j.genrep.2025.102409","url":null,"abstract":"<div><div><em>Pseudomonas aeruginosa</em> is a major opportunistic pathogen responsible for a wide range of hospital-acquired infections, exhibiting remarkable resistance to multiple antibiotics. This study aimed to investigate the antibiotic resistance patterns, resistance-associated genes, and genetic diversity of <em>P. aeruginosa</em> isolates recovered from various hospital wards in Amol, northern Iran. A total of 76 clinical isolates were analyzed for antimicrobial susceptibility by the disk diffusion and broth microdilution methods. Extended-spectrum β-lactamase (ESBL) production and resistance gene profiles were determined by phenotypic and PCR assays, respectively. Genotypic diversity was assessed using random amplified polymorphic DNA (RAPD)-PCR. The highest resistance rates were observed against oxacillin (100 %), amoxicillin (96.05 %), and ampicillin/sulbactam (86.84 %), while polymyxin B (9.21 %) and colistin (17.1 %) showed the greatest activity. Sixteen isolates (21.05 %) were carbapenem-resistant, 26 (33.33 %) were ESBL producers, 36 (47.36 %) were multidrug-resistant (MDR), and 19 (25 %) were extensively drug-resistant (XDR). The most prevalent resistance genes included <em>oprD</em> (100 %), <em>sul1</em> (82.89 %), <em>int1</em> (69.73 %), <em>VIM</em> (25 %), and <em>bla</em>_<em>TEM</em> (22.36 %). A total of 48 distinct resistance gene patterns were identified. RAPD-PCR analysis revealed 37 genotypes (R-1 to R-37) with a high discriminatory index (0.9646), though no significant correlation was found between genotypes, resistance genes, or phenotypic resistance patterns (<em>P</em> &gt; 0.05). Overall, this study highlights the high prevalence of multidrug and carbapenem resistance <em>P. aeruginosa</em> (CRPA) isolates in Amol hospitals and underscores the need for continuous molecular surveillance and strict infection control measures to prevent the dissemination of resistant clones.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102409"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145733251","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}

{"title":"Impact of LMNA gene polymorphism (rs581342) on lung cancer susceptibility: Evidence from a southeast Iranian population","authors":"Narges Karimi ,&nbsp;Ali Afgar ,&nbsp;Maryam Fekri Soufiabadi ,&nbsp;Maryam Iranpour ,&nbsp;Mohammad Reza Zangouey ,&nbsp;Seyed Mehdi Hashemi Bajgani ,&nbsp;Shahriar Dabiri","doi":"10.1016/j.genrep.2025.102411","DOIUrl":"10.1016/j.genrep.2025.102411","url":null,"abstract":"<div><h3>Background</h3><div>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.</div></div><div><h3>Method</h3><div>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.</div></div><div><h3>Results</h3><div>Patients with small cell lung cancer (SCLC) were significantly older than those with non-small cell lung cancer (NSCLC) (<em>P</em> &lt; 0.05), and males had a higher prevalence of lung cancer (<em>P</em> = 0.005). Genotype distribution differed between patients and controls (<em>P</em> = 0.001), but not between genders (<em>P</em> = 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 (<em>P</em> &lt; 0.0001). The substantial deviation from Hardy–Weinberg equilibrium (χ² = 189.3, P &lt; 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, <em>P</em> = 0.017) and genotype (<em>P</em> = 0.008) as significant predictors, while age showed borderline significance (<em>P</em> = 0.096).</div></div><div><h3>Conclusion</h3><div>The rs581342 polymorphism may serve as a genetic marker for lung cancer susceptibility and tumor differentiation, though not for histological subtype classification.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102411"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145786481","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}

{"title":"Zinc oxide nanoparticle conjugated with Lapatinib has apoptogenic effect on colon cancer cell line","authors":"Seyed Milad Mousavi Eshkelani ,&nbsp;Riham Nasser ,&nbsp;Fatemeh Ghaderibarmi ,&nbsp;Fatemeh Mirzaee ,&nbsp;Farideh Tahmoresi ,&nbsp;Arash Davoudi ,&nbsp;Hedyeh Bagheri Darestani ,&nbsp;Nafiseh Khakzad ,&nbsp;Diba Heidari ,&nbsp;Sana Tarashandeh Hemmati ,&nbsp;Shahrzad Aghajani ,&nbsp;Taraneh Ghasemipour ,&nbsp;Fahimeh Abedini Bajgiran ,&nbsp;Ahmed Raheem Rayshan ,&nbsp;Ali salehzadeh","doi":"10.1016/j.genrep.2025.102383","DOIUrl":"10.1016/j.genrep.2025.102383","url":null,"abstract":"<div><div>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 <em>CASP8</em> and <em>CASP9</em> 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 <em>CASP8</em> and <em>CASP9</em> 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.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102383"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145578435","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}

{"title":"Acquisition of multiple drug resistance genes by a novel isolate of A. junii from plastic laden landfill soil through horizontal gene transfer","authors":"Kaustubh Jumle ,&nbsp;Naveen Malik ,&nbsp;Sudarshan Singh Lakhawat ,&nbsp;Baljinder Singh ,&nbsp;Himanshu Gogoi ,&nbsp;Akhilesh Kumar ,&nbsp;Pushpender Kumar Sharma","doi":"10.1016/j.genrep.2025.102387","DOIUrl":"10.1016/j.genrep.2025.102387","url":null,"abstract":"<div><div>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<em>.</em> Interestingly, during the analysis, we identified several AMR genes that include <em>sul1</em>and <em>sul2</em> encoding sulfonamide resistance, <em>emr</em> (A) and <em>emr</em> (33) encoding macrolide resistance, <em>bla</em> AQU-3 coding β lactam resistance, <em>vanX</em> (A) coding glycopeptide resistance and <em>drfG</em> 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 <em>Acinetobacter junii</em>, the strain identified henceforth named <em>A. junii</em> JPR0524. Assembled genome demonstrated ∼40 % GC content, and a genome size of ∼3.5 Mbp. Interestingly, several AMR genes could be annotated in <em>A. junii</em> 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 <em>A. junii</em> 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.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102387"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145621826","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}

{"title":"The role of epigenetic alterations induced by genistein, EGCG, luteolin, and hesperidin in breast cancer: A systematic review","authors":"Amirhossein Rajabalinejad ,&nbsp;Mahsa Jalili ,&nbsp;Rasool Rajabi ,&nbsp;Maryam Nazari","doi":"10.1016/j.genrep.2025.102394","DOIUrl":"10.1016/j.genrep.2025.102394","url":null,"abstract":"<div><div>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 (<em>e.g.</em>, 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 <em>in vivo</em> or <em>in vitro</em> 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.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102394"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145621825","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}

{"title":"Integrated morphological, histological and transcriptomic profiling of papilla regeneration in the sea cucumber Apostichopus japonicus","authors":"Wanrong Tian ,&nbsp;Xiaonan Li ,&nbsp;Xuan Liu ,&nbsp;Junhui Wang ,&nbsp;Qi Ye ,&nbsp;Jinwei Zhao ,&nbsp;Weiyan Li ,&nbsp;Haoran Xiao ,&nbsp;Yongjie Wang ,&nbsp;Yinghui Li ,&nbsp;Lingshu Han ,&nbsp;Chong Zhao ,&nbsp;Jun Ding","doi":"10.1016/j.genrep.2025.102399","DOIUrl":"10.1016/j.genrep.2025.102399","url":null,"abstract":"<div><div>The sea cucumber (<em>Apostichopus japonicus</em>) 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 <em>A. japonicus</em> 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.</div><div>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 <em>COL1A2</em>, <em>DMBT1</em>, <em>fibropellin-ia</em>, <em>TNXB</em>, and <em>KCP</em>, 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 <em>COL1A2</em>, <em>DMBT1</em>) as crucial regulators of sea cucumber papillae regeneration.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102399"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146073919","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}

{"title":"ENPP1/PC-1 K121Q (rs1044498) polymorphism and genetic susceptibility to metabolic syndrome in a Moroccan population","authors":"Hamid Farhane ,&nbsp;Majida Motrane ,&nbsp;Soufiane Karchali ,&nbsp;Oumaima El Alaoui El Abdellaoui ,&nbsp;Fatima-Ezzahra Anaibar ,&nbsp;Aïcha Motrane ,&nbsp;Said Nassor Abeid ,&nbsp;Abderraouf Hilali ,&nbsp;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}

{"title":"Cycloxygenase-2 (−765G>C) gene polymorphism and risk of uterine fibroids in Egyptian women","authors":"Afaf M Elsaid ,&nbsp;Yasmeen M Elsayed ,&nbsp;Ali H. Abu Almaaty ,&nbsp;Mohamed I. Eid ,&nbsp;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&gt;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&gt;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> &lt; 0.001) and an increased frequency of the C-allele (47 % versus 26 %, p &lt; 0.001). The examination of the dominant and over dominant models of the COX-2 (G&gt;C-765) mutation demonstrated a substantial correlation with fibroid risk in comparison to controls (<em>p</em> &lt; 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> &lt; 0.001).</div></div><div><h3>Conclusions</h3><div>A substantial correlation was identified between the −765G&gt;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}

{"title":"Increasing autologous conditioned serum growth factors and cytokine concentration: The use of poly lactic acid coated beads","authors":"Majid Zamani ,&nbsp;Saeid Kaviani ,&nbsp;Mehdi Yousefi ,&nbsp;Saeid Abroun ,&nbsp;Mohammad Hojjat-Farsangi ,&nbsp;Behzad Pourabbas","doi":"10.1016/j.genrep.2025.102408","DOIUrl":"10.1016/j.genrep.2025.102408","url":null,"abstract":"<div><h3>Introduction</h3><div>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.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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 (<em>p</em> &lt; 0.05). However, no significant differences were observed in total protein or ion concentrations among the groups (<em>p</em> &gt; 0.05).</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102408"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145733383","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}