Gene Reports最新文献

{"title":"Kinase regulation of DNA polymerase alpha - primase (polα-primase) complex: Inference from decade-long global phosphoproteomes","authors":"Aromal Monipillil Ajayakumar ,&nbsp;Athira Perunelly Gopalakrishnan ,&nbsp;Amal Fahma ,&nbsp;Althaf Mahin ,&nbsp;Suhail Subair ,&nbsp;Prathik Basthikoppa Shivamurthy ,&nbsp;Poornima Ramesh ,&nbsp;Rajesh Raju","doi":"10.1016/j.genrep.2025.102312","DOIUrl":"10.1016/j.genrep.2025.102312","url":null,"abstract":"<div><div>DNA polymerase alpha - primase (polα-primase) complex is crucial for DNA replication, which is an association of catalytic (POLA1), regulatory (POLA2) and primase (PRIM1 and PRIM2) subunits. POLA1 extends the primers synthesized by the primase subunits, while POLA2 interacts with the replication factors including AND-1 and contributes to the assembly of replication machinery. This review presents a characterization of the kinase-mediated phosphoregulatory network regulating the polα-primase complex, with a specific focus on phosphorylation sites identified on POLA1. In addition, patterns of co-differential regulation among polα-primase subunits are discussed based on mass spectrometry-based phosphoproteomics data integration. The candidate upstream kinases potentially responsible for phosphorylating polα-primase complex are highlighted, drawing on current phosphorylation site–kinase mapping resources. These kinases modulate polα-primase complex activity in a site-specific manner, integrating its function into key cellular processes such as the DNA damage response, immune signaling, and oncogenic transformation. While substantial knowledge exists, particularly on global phosphoregulation, critical gaps remain especially in experimentally validated, site-specific functional studies of polα-primase complex phosphorylation. This review not only highlights key regulatory mechanisms but also paves the way for targeted investigations in the future, some of which are now actively being explored.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102312"},"PeriodicalIF":0.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144771852","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":"Optimized delivery of dual-gRNA CRISPR/Cas9 via FolicPolySpermine nanoparticles for MHC class I elimination through B2M gene knockout","authors":"Hossein Jafari Khamirani ,&nbsp;Maryam Aghasipour ,&nbsp;Somayeh Khoddam ,&nbsp;Amirmasoud Shiri ,&nbsp;Hossein Heli ,&nbsp;Maryam Ranjbar ,&nbsp;Mahsa Jafari Khamirani ,&nbsp;Sina Zoghi ,&nbsp;Mehdi Dianatpour ,&nbsp;Seyed Alireza Dastgheib","doi":"10.1016/j.genrep.2025.102350","DOIUrl":"10.1016/j.genrep.2025.102350","url":null,"abstract":"<div><div>MHC class I molecules are expressed on the surface of all nucleated cells and play a significant role in graft rejection. <em>B2m</em>, the non-polymorphic constituent of the MHC class I molecule, is crucial to the structural integrity of the MHC class I. Targeting B2m using gene editing technologies to generate cells with minimal or no surface MHC class I expression is a promising strategy for addressing graft rejection. Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) technology is among the most effective approaches to editing genes, in vitro and in vivo, in a wide range of cell lines and species. However, delivery methods to transfer the CRISPR/Cas9 system to the cells can bring up challenges. In this study, we have deployed FolicPolySpermine nanoparticles based on spermine, polyethylene glycol, and folic acid for the transfection of two gRNAs targeting <em>B2m</em> and Cas9 into the HEK293T cell line. These nanoparticles were effectively transferred to the HEK293T cells, and we validated the expression and functionality of the CRISPR/Cas9 system within the cells. Moreover, we compared the efficiency of lipofectamine 2000 and FolicPolySpermine as delivery systems. FolicPolySpermine nanoparticle, as a biocompatible, safe, and efficient strategy, is useful in the transfection of CRISPR plasmids with high efficacy and precision into the target cells. Additionally, our study demonstrated that the use of dual gRNAs is a suitable approach for directly targeting and inducing predicted deletions at specific loci, which can be utilized for gene knockout purposes. All in all, our findings highlight the potential of FolicPolySpermine as a promising gene delivery method for the CRISPR/Cas9 system.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102350"},"PeriodicalIF":0.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145264793","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":"Genome analysis of Pseudomonas spp. CPA-7, a strain with potential as a biocontrol agent","authors":"Cyrelys Collazo ,&nbsp;Jose Francisco Sanchez-Herrero ,&nbsp;Rui Alves ,&nbsp;Julio Rozas ,&nbsp;Isabel Alegre ,&nbsp;Abdelrhaman Eleiwa ,&nbsp;Inmaculada Viñas","doi":"10.1016/j.genrep.2025.102326","DOIUrl":"10.1016/j.genrep.2025.102326","url":null,"abstract":"<div><div>We report the whole genome sequence of CPA-7, a strain isolated from apple surface and classified as <em>Pseudomonas graminis,</em> that has shown antagonistic activity against pathogenic bacteria in several food matrices. Its genome comprises 5,786,948 bp, with 60.5 % average of C + G content. From the 5122 predicted protein coding sequences (CDSs), 4703 (91.8 %) were functionally annotated. Comparative genomic analyses using 366 fully sequenced <em>Pseudomonas</em> strains placed CPA-7 within the <em>P. lutea</em> group, more related to <em>P. graminis</em> UASWS1507. However, ANI values in respect to the other fully sequenced <em>P. graminis</em> (91–92 %)<em>,</em> including the type strain DSM11363, were below the intraspecific bacterial threshold (95 %). Whole genomic digital DNA-DNA hybridization in the Type Strain Genome Server also gave a below threshold score for <em>P. graminis</em> (47.7 %), suggesting the need for revision of this taxon. BLAST analyses of 16S rRNA showed &gt;99 % identity with other <em>Pseudomonas</em> spp. while the <em>rpoD</em> amplified sequence revealed a 100 % similarity with <em>Pseudomonas</em> sp. Irchel 1A17. Single orthologs analysis unraveled 341 CDSs unique to CPA-7 compared to the rest of <em>P. graminis</em> strains including genes involved in transport, adherence, and adaptability. Genome mining uncovered genes potentially involved in biological control, and plant growth promoting activities which corresponded to in vitro activities such as the production of siderophores, 1-aminocyclopropane-1-carboxylate deaminase, and Indole-3-acetic acid as well as Phosphorous solubilization. Furthermore, multiple genes associated with chemotaxis, colonization, and metabolic plasticity, unravel the genetic basis for the potentialities of CPA-7 as a biocontrol agent, opening several lines for further investigation.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102326"},"PeriodicalIF":0.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144931951","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":"Arylamine N-acetyltransferase 1 knockout in immortalized human bronchial cells results in a reduction of cellular growth","authors":"Sandra S. Diven ,&nbsp;Kate Tarvestad-Laise ,&nbsp;David W. Hein ,&nbsp;James T.F. Wise","doi":"10.1016/j.genrep.2025.102332","DOIUrl":"10.1016/j.genrep.2025.102332","url":null,"abstract":"<div><div>Arylamine <em>N</em>-acetyltransferase 1 (NAT1) is a xenobiotic metabolizing enzyme. NAT1 has recently been proposed to have a non-canonical role in cancer cells, where NAT1 knockout (KO) results in reduced cell growth, cancer properties, and altered mitochondria metabolism. The non-canonical role of NAT1 in human lung cells remains unknown. This study aimed to understand if the loss of NAT1 in human bronchial cells, both epithelial (BEP2D) and fibroblast (WTHBF-6), impacted cell growth. We constructed cell lines stably expressing Cas9 and then inserted two different guide RNA (gRNA) sequences for NAT1 into BEP2D cells and WTHBF-6 cells. We expanded colonies of both cell lines for each gRNA and confirmed the loss of NAT1 by measuring the <em>N</em>-acetylation of a NAT1 selective substrate (p-aminobenzoic acid). We measured cell growth via growth curves and colony formation. We also screened the karyotype of each clone to determine if NAT1 had an impact on genomic stability. We found a reduction in the growth of NAT1 KO cells compared to parental cells. Interestingly, there was no change in colony number for NAT1 KO cells, but there was a reduction in the colony cell density (qualitatively observed) for these cells. NAT1 knockout did not induce genomic instability. These data provide further evidence suggesting that NAT1 has a non-canonical role outside of substrate acetylation, and results indicate that NAT1 KO reduces cell growth of non-tumorigenic human lung cells.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102332"},"PeriodicalIF":0.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145007763","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":"Genetic variation of white spot syndrome virus (WSSV) envelope protein VP28 influences its adaptivity in shrimps","authors":"SiouNing Aileen See ,&nbsp;Subha Bhassu ,&nbsp;Swee Seong Tang ,&nbsp;Khatijah Yusoff","doi":"10.1016/j.genrep.2025.102310","DOIUrl":"10.1016/j.genrep.2025.102310","url":null,"abstract":"<div><div>White spot syndrome virus (WSSV) is a significant viral pathogen in aquaculture leading to substantial economic loss. A comprehensive understanding of WSSV transmission, adaptation, and the mechanisms underlying shrimp survival and resistance is crucial. In this study, VP28 envelope protein gene from Malaysian WSSV isolates was sequenced and analysed using phylogenetic methods. The analysis revealed that VP28 gene shared over 87 % identity with other known WSSV isolates, as determined by NCBI BLAST. Phylogenetic analysis highlighted amino acid (aa) substitution at positions 42nd, 136th, and 180th to 183rd between Malaysia strains and those from other countries, potentially impacting the structure of VP28 and contributing to viral adaptability. Comparative studies of the VP28 gene's nucleotide composition and codon usage bias shed light on the molecular evolution of WSSV and its adaptation to hosts. Notably, comparisons between the VP28 sequences of Malaysian isolates from 2020 and 2022 revealed contrasting patterns: the 2020 strain exhibited higher nucleotide identity, whereas the 2022 strain had greater peptide identity compared to published VP28 sequences. These differences suggest that genetic variation and virulence of VP28 in global outbreaks may be influenced by host-pathogen interactions, environmental factors and selective pressures. This study offers insights into the evolutionary forces shaping the WSSV genome.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102310"},"PeriodicalIF":0.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144860622","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":"Association of CDH1 gene variant C > A (rs16260) with expression and treatment outcomes in cervical cancer patients receiving chemoradiotherapy","authors":"Shireen Masood ,&nbsp;Atar Singh Kushwah ,&nbsp;Kirti Srivastava ,&nbsp;Monisha Banerjee","doi":"10.1016/j.genrep.2025.102344","DOIUrl":"10.1016/j.genrep.2025.102344","url":null,"abstract":"<div><h3>Background</h3><div>The <em>CDH1</em> gene promoter variant C &gt; A (rs16260) is associated with downregulation of E-cadherin, which compromises epithelial integrity and has been linked to poor prognosis in various cancers. This study investigates the association of the <em>CDH1</em> C &gt; A variant with gene expression and its potential as a prognostic biomarker for cervical cancer in an Indian population.</div></div><div><h3>Methods</h3><div>This case-control study involved 107 cervical cancer patients and 96 age-matched healthy controls. Genotyping of the <em>CDH1</em> C &gt; A (rs16260) variant was performed using PCR-RFLP, and gene expression was analyzed through qPCR. Kaplan-Meier and Cox regression analyses were used to correlate genotypes and gene expression with treatment response and survival outcomes. Statistical analysis was conducted using QUANTO (v.1.2), GraphPad Prism (v. 10), SPSS (v. 25).</div></div><div><h3>Results</h3><div>The CA and CA + AA genotypes of the <em>CDH1</em> variant were significantly associated with cervical cancer risk (<em>P</em> = 0.011 and <em>P</em> = 0.004, respectively). <em>CDH1</em> gene expression was significantly downregulated in cervical cancer patients compared to controls (<em>P</em> = 0.023). While the CA genotype was protective against recurrence and treatment toxicity (<em>P</em> &lt; 0.001 and <em>P</em> = 0.050, respectively), the CC genotype was linked to increased toxicity and recurrence. CA genotype shows a trend toward better overall survival (median 27 vs. 19 months; HR &lt; 1), though not statistically significant (<em>P</em> = 0.079).</div></div><div><h3>Conclusion</h3><div>The <em>CDH1</em> C &gt; A (rs16260) variant may be a prognostic biomarker to predict toxicity and recurrence of cervical cancer, with implications for personalized treatment strategies. However, further studies in larger, more diverse cohorts are necessary to validate these findings.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102344"},"PeriodicalIF":0.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145109488","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":"Genetic and hormonal insights into PCOS: Role of FSHR rs6166 and LHCGR rs2293275 polymorphisms","authors":"Dolly J. Patel ,&nbsp;Kinnari N. Mistry ,&nbsp;Jasmine Gujarathi ,&nbsp;Piyush Chudasama","doi":"10.1016/j.genrep.2025.102307","DOIUrl":"10.1016/j.genrep.2025.102307","url":null,"abstract":"<div><h3>Background</h3><div>PCOS (Polycystic ovary syndrome) is an intricate endocrine condition characterized by abnormal metabolic processes, hormonal inconsistencies, and higher estrogen production. This study assessed the biochemical, hormonal, and genetic differences between individuals with PCOS and healthy controls, focusing on the <em>FSHR (Follicle-stimulating hormone receptor)</em> rs6166 and <em>LHCGR (luteinizing hormone-chorio-gonadotrophin receptor)</em> rs2293275 polymorphisms.</div></div><div><h3>Methods</h3><div>A comparative cross-sectional study was conducted with patients diagnosed with PCOS and healthy controls. Fasting glucose, insulin, SHBG, LH, FSH, estradiol, progesterone, total testosterone, and DHEAS levels were measured in both groups. Genotyping of <em>FSHR</em> (rs6166) and <em>LHCGR</em> (rs2293275) was conducted using PCR-RFLP. Statistical analyses included odds ratios, genotype distributions, and hormone-genotype interaction analysis.</div></div><div><h3>Results</h3><div>Participants with PCOS exhibited significantly higher levels of fasting glucose, insulin, LH, testosterone, and DHEAS, as well as lower levels of SHBG and FSH. The AA genotype of <em>FSHR</em> rs6166 is more common in patients with PCOS and is associated with a higher LH: FSH ratio, indicating a gonadotropin imbalance. In contrast, the GG genotype of <em>LHCGR</em> rs2293275 was associated with increased LH, decreased FSH, and higher testosterone levels, suggesting its role in hyperandrogenism.</div></div><div><h3>Conclusion</h3><div>This study emphasizes the notable endocrine and genetic differences in PCOS, implicating <em>FSHR</em> rs6166 and <em>LHCGR</em> rs2293275 polymorphisms in the susceptibility and severity of the disease. The AA genotype of <em>FSHR</em> is primarily associated with gonadotropic dysfunction, whereas the GG genotype of <em>LHCGR</em> is associated with increased androgen excess. These findings highlight the importance of combining genetic screening with hormonal profiling for better diagnosis and personalized management of PCOS.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102307"},"PeriodicalIF":0.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144750836","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":"Genetic susceptibility to severe COVID-19 in men: The impact of androgen receptor CAG repeat length","authors":"Arsalan Eskandarinezhad ,&nbsp;Asra Moradkhani ,&nbsp;Mobin Azami ,&nbsp;Efat Shafiei ,&nbsp;Sabah Hasani ,&nbsp;Abbas Aghaei ,&nbsp;Nariman Moradi ,&nbsp;Shahnaz Ghafouri ,&nbsp;Naseh Sigari ,&nbsp;Asaad Azarnezhad","doi":"10.1016/j.genrep.2025.102299","DOIUrl":"10.1016/j.genrep.2025.102299","url":null,"abstract":"","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102299"},"PeriodicalIF":0.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144750837","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":"Comparative gonadal transcriptome analysis reveals sex-biased genes in Siniperca scherzeri","authors":"Shengyue Lin ,&nbsp;Dingxian Chen ,&nbsp;Weiqian Liang ,&nbsp;Weijian Chen ,&nbsp;Weibin Li ,&nbsp;Ziyan Deng ,&nbsp;Guojun Cai ,&nbsp;Sixun Li ,&nbsp;Binhua Deng ,&nbsp;Kaifeng Wang ,&nbsp;Chong Han ,&nbsp;Qiang Li","doi":"10.1016/j.genrep.2025.102340","DOIUrl":"10.1016/j.genrep.2025.102340","url":null,"abstract":"<div><div><em>Siniperca scherzeri</em> is a valuable freshwater fish in China. The economic value of female <em>S. scherzeri</em> far exceeds that of males. Nevertheless, the lack of sex-related research has significantly impeded the development of single-sex breeding programs for this species.</div><div>In this investigation, Illumina Novaseq technology was employed to perform a comparative analysis of the gonadal transcriptomes of <em>S. scherzeri</em> in the first time. Assembly yielded 33,690 unigenes, of which 31,395 were successfully annotated. A comparative analysis identified 15,146 differentially expressed genes between the ovary and testis. Specifically, 9514 genes were downregulated and 5632 genes were upregulated in the ovaries. Moreover, multiple genes participating in gonadal differentiation and development, steroid synthetic pathway, and gametogenesis were screened out. Among these genes, <em>sox 1</em>, <em>sox3</em>, <em>cyp26a1</em>, <em>gdf9</em>, <em>bmp15</em>, <em>zp3</em>, <em>foxh1</em>, and <em>nr0b1</em> showed ovary-biased expression; <em>Amh</em>, <em>dmrt1b</em>, <em>sox 4</em>, and <em>nanos 2</em> showed testis-bias expression. Our real-time PCR also confirmed the RNA-seq results of these genes. These results are of great significance for elucidating the molecular mechanisms of sex differentiation and development in <em>S. scherzeri</em>.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102340"},"PeriodicalIF":0.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145060542","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 study of the role of TNFα-308 (G>A) gene polymorphism in recurrent pregnancy loss in random sample from Benha University Hospital","authors":"Osama Saad Al Shaer ,&nbsp;Eman Ramadan Abd El Gwad ,&nbsp;Dalia Mohamed Abd E.L. Hassib ,&nbsp;Omar Khaled Naser ,&nbsp;Walaa Afifi Nasr Afifi ,&nbsp;Amira Osama Abd El-Ghaffar","doi":"10.1016/j.genrep.2025.102320","DOIUrl":"10.1016/j.genrep.2025.102320","url":null,"abstract":"<div><h3>Background</h3><div>Recurrent pregnancy loss (RPL) remains a significant clinical and emotional challenge. Despite advances in reproductive medicine, the underlying causes of RPL are sometimes elusive, with genetic factors now increasingly recognized as important contributors. Among these, the single-nucleotide polymorphism (SNP) rs1800629 in the tumor necrosis factor-alpha (TNF-α) gene has emerged as a potential factor influencing susceptibility to RPL.</div></div><div><h3>Aim</h3><div>This case-control study intended to examine the association of <em>TNF-α</em> − 308 G &gt; A SNP with RPL in Benha University Hospital, Egypt.</div></div><div><h3>Subjects &amp; methods</h3><div>A total of 190 participants (90 women with RPL and 100 healthy controls) were involved. Genotyping of the <em>TNF-α</em> − 308 G &gt; A SNP was performed using the restriction fragment length polymorphism-polymerase chain reaction (PCR-RFLP) technique with the <em>Nco</em>I restriction endonuclease.</div></div><div><h3>Results</h3><div>The frequency of GA and AA genotypes were considerably higher in the RPL females compared to controls, with the AA genotype conferring the highest risk (OR = 3.75, 95 % CI: 1.17–12.05, <em>p</em> = 0.027). The dominant model (GA + AA) also showed a strong association with RPL (OR = 2.06, 95 % CI: 1.35–3.12, <em>p</em> = 0.001). The A allele was identified as a significant risk factor (OR = 2.01, 95 % CI: 1.39–2.90, <em>p</em> &lt; 0.001).</div></div><div><h3>Conclusion</h3><div>The <em>TNF-α</em> − 308 G &gt; A polymorphism appears to be linked to increased susceptibility to RPL. Larger, multi-ethnic studies are required to further confirm these outcomes and to clarify the genetic contribution to RPL.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102320"},"PeriodicalIF":0.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144841002","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}