Gene Reports最新文献

{"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":"2026-01-05","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":"A heavy metal tolerant Thiopseudomonas alkaliphila strain as a potential plant growth promoter isolated from Bengaluru region","authors":"Rashmi Ramalingegowda ,&nbsp;Manjula Nagalapur Gadilingappa ,&nbsp;Shilpa Borehalli Mayegowda ,&nbsp;Sahana M ,&nbsp;Vikramadhithya T ,&nbsp;Muthukumaran ,&nbsp;Sachin D. H","doi":"10.1016/j.genrep.2025.102425","DOIUrl":"10.1016/j.genrep.2025.102425","url":null,"abstract":"<div><div><em>Thiopseudomonas alkaliphila</em>, a Pseudomonadaceae has diverse environmental role that has not been much explored. Current study highlights, the isolated strain from industrial sites of Bengaluru with heavy metal tolerance against lead, chromium and cadmium. The antibiotic susceptibility test (AST) and minimum inhibitory concentration (MIC) showed sensitive against all the antibiotics used in the study. Subsequently, 16s rRNA analysis established and closely related to <em>T. alkaliphila</em> D2441 strain<em>,</em> whole genome was submitted, GenBank SRA database accession number is as follows PRJNA1258058. The unravelling of genetic determinants analyzed for heavy metals, antibiotic resistance and plant growth promoting traits were compared with related strains. A single chromosome with 2,400,551 bp length, average GC ratio 49.44 % and with 1941 protein-encoding genes (PEGs), the strain can bioremediate different heavy metals (354 genes/proteins), along with an aptitude as plant growth promoting rhizobacteria (PGPR) evidenced by genes showcasing tolerance against adverse environmental conditions under stress for phytohormones, plant nutrient acquisition, heat and shock chaperones, siderophore etc. The study highlights, <em>T. alkaliphila</em> as a non-pathogenic, potential heavy metal remediator with potential activity for PGPR traits at genetic levels.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102425"},"PeriodicalIF":0.9,"publicationDate":"2026-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145921113","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":"Advanced glycation end products enhance human atrial fibroblast activity through activation of interferon/signal transducer and activator of transcription signaling","authors":"Tzu-Yu Cheng ,&nbsp;Shao-Jung Li ,&nbsp;Ting-Wei Lee ,&nbsp;Ting-I Lee ,&nbsp;Yao-Chang Chen ,&nbsp;Yu-Hsun Kao ,&nbsp;Satoshi Higa ,&nbsp;Pao-Huan Chen ,&nbsp;Yi-Jen Chen","doi":"10.1016/j.genrep.2025.102423","DOIUrl":"10.1016/j.genrep.2025.102423","url":null,"abstract":"<div><h3>Background</h3><div>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.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusions</h3><div>AGEs may modulate atrial fibroblast function by activating downstream IFN/STAT signaling pathways and increasing TRPC current activity.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102423"},"PeriodicalIF":0.9,"publicationDate":"2026-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145973140","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":"Therapeutic targeting of glioblastoma: miRNA signatures modulated by abemaciclib","authors":"Burcu Çerçi Alkaç ,&nbsp;Mustafa Soyöz ,&nbsp;Tülay Kılıçaslan Ayna ,&nbsp;Melek Pehlivan ,&nbsp;İbrahim Pirim","doi":"10.1016/j.genrep.2025.102413","DOIUrl":"10.1016/j.genrep.2025.102413","url":null,"abstract":"<div><div>Purpose Glioblastoma (GBM) is the most aggressive primary brain tumor in adults, characterized by poor prognosis and resistance to standard therapies. Cyclin-dependent kinase (CDK) inhibitors, particularly abemaciclib, have emerged as promising candidates for targeting GBM through cell cycle modulation. However, their molecular mechanisms and interactions with other chemotherapeutics remain to be fully elucidated. Methods In this study, we evaluated the effects of abemaciclib alone and in combination with doxorubicin, cisplatin, or temozolomide (TMZ) on U87 glioblastoma cells. Cell viability (WST-8 assay), wound healing, colony formation, apoptosis (Annexin V ELISA and flow cytometry), and cell cycle progression (PI staining) were assessed. Gene and miRNA expression analyses were also performed to identify mechanistic changes underlying treatment responses. Results Abemaciclib significantly reduced U87 cell viability and enhanced the cytotoxic effects of cisplatin and TMZ in combination treatments. Apoptosis assays revealed increased Annexin V levels, particularly in the abemaciclib-TMZ group. Flow cytometry confirmed G1 phase arrest in abemaciclib-treated cells, while TMZ induced G2/M arrest. Gene expression analysis showed upregulation of pro-apoptotic and cell cycle arrest genes (Casp3, Casp9, p16), and downregulation of CDK4. miRNA profiling demonstrated consistent upregulation of miR-128-3p and modulation of miRNAs linked to GBM progression, including miR-21, miR-34a, and miR-449a-3p. Conclusion Abemaciclib exerts potent anti-glioblastoma activity by modulating cell cycle, apoptosis, and miRNA expression. When combined with cisplatin or TMZ, it enhances therapeutic efficacy in U87 cells. These findings support further investigation of abemaciclib-based combination therapies as a strategy to overcome GBM resistance.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102413"},"PeriodicalIF":0.9,"publicationDate":"2026-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145921108","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":"CAPZB gene polymorphism and its implications for hypothyroidism: Evidence from a case-control study","authors":"Nikki Rani ,&nbsp;Salim Khan ,&nbsp;Anita Yadav ,&nbsp;Ranjan Gupta","doi":"10.1016/j.genrep.2025.102422","DOIUrl":"10.1016/j.genrep.2025.102422","url":null,"abstract":"<div><h3>Background</h3><div>Hypothyroidism<strong>,</strong> a prevalent endocrine disorder distinguished by inadequate thyroid hormone production, arises from a complex interplay of environmental and genetic factors. Emerging evidence implicates cytoskeletal regulation in thyroid function, with the capping actin protein of muscle <em>Z</em>-line subunit beta (<em>CAPZB)</em> gene, encoding the subunit of the F-actin capping protein, identified as a candidate gene. This study investigates the relationship between <em>CAPZB</em> gene polymorphism and susceptibility to hypothyroidism.</div></div><div><h3>Methods</h3><div>A case-control study was conducted involving 200 hypothyroid patients and 200 healthy controls. Genomic DNA was extracted and genotyped for rs12091047 using Polymerase chain reaction – Restriction fragment length polymorphism (PCR-RFLP) technique. Genotype and allele frequencies were compared between groups using Chi-square analysis.</div></div><div><h3>Results</h3><div>In the control group, the genotype frequency was CC (56 %), CT (43.5 %), and TT (0.5 %), while in hypothyroid patients, it was CC (41 %), CT (52 %), and TT (7 %). In the dominant model, CT and TT genotypes were significantly associated with hypothyroidism (OR- 1.831, <em>p</em>-value 0.0028). The recessive model showed an unstable estimate due to very low TT frequency in controls (<em>n</em> = 1).</div></div><div><h3>Conclusion</h3><div>The rs12091047 polymorphism in the <em>CAPZB</em> gene showed a statistical association with an increased risk of hypothyroidism in the studied population, implying that variations in cytoskeletal genes might play a role in thyroid disorders.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102422"},"PeriodicalIF":0.9,"publicationDate":"2026-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145921017","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":"Glutathione peroxidase 4 gene polymorphism and its association with periodontitis and type 2 diabetes mellitus in south Indian population","authors":"Usha Subbiah ,&nbsp;Kaniha Sivakumar ,&nbsp;Nihala Sidhic ,&nbsp;Athira Ajith ,&nbsp;Challa Raji Lalasa ,&nbsp;Bathala Sai Dharani ,&nbsp;Harini Venkata Subbiah ,&nbsp;Jeyanthi Rebecca ,&nbsp;Anitha Balaji","doi":"10.1016/j.genrep.2025.102421","DOIUrl":"10.1016/j.genrep.2025.102421","url":null,"abstract":"<div><h3>Background</h3><div>Periodontitis and Type 2 Diabetes Mellitus are chronic disorders with high prevalence in the population, both influenced significantly by genetic factors. Glutathione peroxidase 4, a selenoprotein, plays a key role in maintaining oxidative homeostasis.</div></div><div><h3>Objectives</h3><div>This study evaluated the association of the GPX<em>4</em> rs713041 single-nucleotide polymorphism in the 5′ untranslated region with periodontitis, T2DM, and their co-occurrence in a South Indian cohort.</div></div><div><h3>Methods</h3><div>The SNP rs713041 was analysed in 300 diseased individuals and 100 healthy controls using PCR-RFLP. Additionally, the impact of the wild-type and variant rs713041 on mRNA secondary structure was studied, and molecular docking was performed to analyse the interaction of <em>GPX4</em> with gingipain (Kgp).</div></div><div><h3>Results</h3><div>The results revealed a significant association (<em>P</em> &lt; 0.05) of the heterozygous genotype T/C of rs713041 with periodontitis, T2DM, and periodontitis with T2DM. The frequency of the variant CC genotype was significantly higher in periodontitis compared to healthy controls (1.07–9.64; <em>P</em> &lt; 0.05). The genotype frequencies for rs713041 adhered to the Hardy-Weinberg equilibrium in the study population (<em>P</em> &gt; 0.05). Thermodynamic analysis revealed that the free energy of the rs713041 variant (−274.97 kcal/mol) was higher than that of the wild type, suggesting reduced stability of the variant. Docking analysis showed a binding energy of −47.18 kcal/mol for the <em>-</em>gingipain interaction.</div></div><div><h3>Conclusion</h3><div>The SNP rs713041 in the 5’ UTR of the <em>GPX4</em> gene may serve as a significant prognostic marker for periodontitis and T2DM, highlighting its potential role in the pathogenesis of these diseases.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102421"},"PeriodicalIF":0.9,"publicationDate":"2025-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145880404","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":"Sperm non-coding RNAs and pregnancy outcomes: A literature review","authors":"Parisa Dolati,&nbsp;Emran Esmaeilzadeh,&nbsp;Hamid Reza Khorram Khorshid","doi":"10.1016/j.genrep.2025.102420","DOIUrl":"10.1016/j.genrep.2025.102420","url":null,"abstract":"<div><div>The spermatozoon is a specialized cell that transmits not only DNA but also other molecules, which, until recently, were thought to transport the paternal genome to the oocyte solely. Recent evidences show that the sperm is responsible for delivering many other components and molecules that are essential not only in early embryonic events but might also have long-lasting effects across several generations. Non-coding RNAs (ncRNAs) carried by sperm have been implicated in fertilization, embryo and placental development, and offspring health. Meanwhile, non-coding RNAs (ncRNAs) are known to be part of dynamic epigenetic mechanisms that can rapidly change in response to various internal and external factors. Here, we provide a clinician-oriented synthesis emphasizing paternal evidence, mechanisms, and actionable gaps. We summarize insights from the current understanding of sperm epigenetic information, particularly ncRNAs, their impact on pregnancy outcomes, placental growth, development, and the possible pathways involved.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102420"},"PeriodicalIF":0.9,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145880405","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":"Reduced H3C6 mRNA levels in preeclamptic placentas without associated CpG island methylation changes","authors":"Majid Zaki-Dizaji ,&nbsp;Mohsen Saravani ,&nbsp;Behnoosh Jamshidi ,&nbsp;Seyed Mohammad-Hossein Nemati ,&nbsp;Marzieh Ghasemi ,&nbsp;Zohreh Heidary","doi":"10.1016/j.genrep.2025.102419","DOIUrl":"10.1016/j.genrep.2025.102419","url":null,"abstract":"<div><h3>Background</h3><div>Despite advances in diagnostics, preeclampsia (PE) remains a leading cause of maternal and fetal morbidity. Elucidating the molecular mechanisms underlying PE is essential for developing improved interventions. Recent evidence points to epigenetic dysregulation of HIST1H3E (H3C6) in PE placentas, characterized by decreased expression and hypermethylation. Therefore, this study investigates H3C6 expression and methylation patterns in PE placentas compared to healthy controls.</div></div><div><h3>Materials and methods</h3><div>We analyzed 30 PE and 30 control placental tissues. <em>H3C6</em> mRNA levels were quantified by RT-qPCR, and methylation status was assessed via Methylation-Quantification of Endonuclease-Resistant DNA (MethyQESD) targeting two CpG island regions in H3C6 gene. Statistical analyses were performed using GraphPad Prism.</div></div><div><h3>Results</h3><div>Quantitative analysis revealed significantly reduced H3C6 mRNA expression in preeclamptic placentas compared to controls (<em>p</em> &lt; 0.05). However, methylation analysis of two CpG island regions within H3C6 gene demonstrated no significant differences between groups (<em>p</em> &gt; 0.05).</div></div><div><h3>Conclusion</h3><div>While H3C6 is underexpressed in PE, its methylation status in the analyzed CpG islands remains unaltered. Future studies should explore other regulatory regions (e.g., CpG shores/shelfs) and mechanistic links to PE pathophysiology.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102419"},"PeriodicalIF":0.9,"publicationDate":"2025-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145836485","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":"Phenolic and elemental composition of Artemisia absinthium and its protective role against ethanol-induced ER stress and TNF-α mediated inflammation in hepatic cells","authors":"Nebiye Pelin TURKER","doi":"10.1016/j.genrep.2025.102418","DOIUrl":"10.1016/j.genrep.2025.102418","url":null,"abstract":"<div><div>The aim of this study was to determine the elemental and phenolic composition of <em>Artemisia absinthium</em> and evaluate its hepatoprotective effects against ethanol-induced cytotoxicity in AML12 hepatocytes. Elemental analysis by ICP-MS revealed high levels of potassium, calcium, and phosphorus, along with essential trace elements such as Fe, Zn, and Cu. LC-MS/MS identified chlorogenic and protocatechuic acids as dominant phenolics. In MTT assays, ethanol significantly reduced cell viability (IC₅₀ = 15.63 %), whereas co-treatment with <em>A. absinthium</em> extract improved viability to 84.29 %. Gene expression analysis showed that ethanol induced ER stress and the pro-inflammatory cytokine TNF-α, which were downregulated by the extract, indicating a targeted anti-inflammatory effect. Post-treatment with <em>A. absinthium</em> also enhanced antioxidant gene expression (CAT, SOD, GSH). Flow cytometry confirmed reduced ROS levels in extract-treated cells. These findings suggest that <em>A. absinthium</em> exerts hepatoprotective effects by modulating oxidative stress, ER stress, and inflammatory signaling, highlighting the necessity for further investigation into the upstream molecular mechanisms of ROS generation.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102418"},"PeriodicalIF":0.9,"publicationDate":"2025-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145836492","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":"Delineating miR-126-3p, miR-223-3p, and miR-320a expression patterns with body mass index and insulin resistance in South African adults living with HIV","authors":"Leegan Govender ,&nbsp;Nasheeta Peer ,&nbsp;Cecil J. Weale ,&nbsp;Don M. Matshazi ,&nbsp;Tandi E. Matsha ,&nbsp;Collet Dandara ,&nbsp;Andre P. Kengne","doi":"10.1016/j.genrep.2025.102412","DOIUrl":"10.1016/j.genrep.2025.102412","url":null,"abstract":"<div><h3>Background</h3><div>People living with human immunodeficiency virus (PLWH) have increased risk of weight gain, overweight, and obesity, and subsequent cardiometabolic diseases (CMDs). MicroRNAs (miRNAs) are emerging biomarkers for diabetes and obesity due to their regulatory roles in pathophysiological pathways leading to these conditions. In non-HIV populations, microRNAs (miR-126-3p, −223-3p, and -320a) have been associated with CMD risk.</div></div><div><h3>Aim</h3><div>To examine the expression patterns of targeted miRNAs (miR-126-3p, −223-3p, and -320a) with overweight/obesity status in PLWH in South Africa.</div></div><div><h3>Methods</h3><div>This cross-sectional study included ≥18-years-old PLWH, from 17 HIV clinics that provided antiretroviral care in the Western Cape between 2014 and 2015. Body mass index (BMI) &lt;25 kg/m² is defined as normal/underweight, BMI between ≥25 kg/m² and &lt; 30 kg/m² is defined as overweight, and BMI ≥30 kg/m² is defined as obesity. Whole blood miRNAs were isolated and quantified by reverse transcription polymerase chain reaction with small nucleolar RNA, C/D box 84 (SNOR D48) endogenous control used for normalisation. Statistical analyses used R software, with <em>p</em>-value&lt;0.05 characterising significant results.</div></div><div><h3>Results</h3><div>Overall, all three target miRNAs were significantly but weakly correlated with fasting glucose (all, <em>p</em> &lt; 0.046), fasting insulin (all, <em>p</em> &lt; 0.015), and homeostatic model assessment-estimated insulin resistance (all, <em>p</em> &lt; 0.002). Furthermore, miR-126-3p and − 223-3p were significantly correlated with 2-h insulin (both, <em>p</em> &lt; 0.029) and alanine transaminase (both, <em>p</em> &lt; 0.021). There were no significant differences in target miRNAs expression by BMI categories. Age and gender-adjusted regression analysis found no significant associations between the target miRNAs and CMD risk profiles.</div></div><div><h3>Conclusion</h3><div>The expression patterns evaluated in this study appear to have weak associations with fasting glucose and cannot differentiate overweight/obesity status in PLWH. While not promising markers for overweight/obesity in PLWH, these findings remain exploratory, and further investigation is warranted.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102412"},"PeriodicalIF":0.9,"publicationDate":"2025-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145880291","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}