BMC Medical Genomics最新文献

{"title":"Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes.","authors":"Jingru Bi, Wenkai Guo, Pengcheng Ji, Yuansheng Xie","doi":"10.1186/s12920-025-02178-5","DOIUrl":"10.1186/s12920-025-02178-5","url":null,"abstract":"","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"116"},"PeriodicalIF":2.1,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12257844/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrated analysis reveals key circRNA-mediated regulatory axes related to prognosis and immune infiltration in lung adenocarcinoma.","authors":"Yan Pei, Kang Lin","doi":"10.1186/s12920-025-02182-9","DOIUrl":"10.1186/s12920-025-02182-9","url":null,"abstract":"<p><strong>Background: </strong>For lung adenocarcinoma (LUAD), the competitive endogenous RNA (ceRNA) networks mediated by circular RNAs (circRNAs) have been partially constructed. However, a mass of networks still need to be thoroughly investigated to uncover novel regulatory axes in LUAD.</p><p><strong>Methods: </strong>Clinical information along with transcriptome data were obtained from open databases. The circRNA-mediated ceRNA subnetworks and a risk score were constructed through layer-by-layer screening and validating. Immune infiltration analysis was performed by CIBERSORT. Quantitative real-time PCR, immunohistochemical analysis, and dual-luciferase reporter assays confirmed the expression and relationships of hub genes.</p><p><strong>Results: </strong>The expression of 9 circRNAs, 81 miRNAs, and 952 mRNAs significantly varied in LUAD tissues. Subsequently, 63 miRNA-mRNA interactions and 3 circRNA-miRNA interactions were employed to generate a ceRNA network. Two prognostic subnetworks mediated by hsa_circ_0072088 and hsa_circ_0049271 were obtained following hub genes screening and survival analysis. Then, a risk score consisting of MMP14 and DCN was successfully constructed and verified using a different dataset. Among the high-risk group, more deaths and poor prognosis occurred. The distribution of immune infiltrating cells varied between high- and low-risk groups, and they were correlated with both the expression of DCN and MMP14 and the risk score.</p><p><strong>Conclusions: </strong>The two key regulatory axes, hsa_circ_0072088/hsa-miR-532-3p/MMP14 and hsa_circ_0049271/hsa-miR-224-5p/DCN, might be involved in carcinogenesis, prognosis and immune infiltration of LUAD.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"115"},"PeriodicalIF":2.1,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12247359/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144607192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epidemiological factors associated with the prevalence of mobile genetic elements, and antimicrobial resistance patterns in Klebsiella pneumoniae of farm environments in Bangladesh.","authors":"Md Hafizur Rahman, Sonia Akther, Shihab Ahmed, Md Niamul Shahadat, Md Nuruzzaman Munsi, Abu Bakkar Siddique","doi":"10.1186/s12920-025-02181-w","DOIUrl":"10.1186/s12920-025-02181-w","url":null,"abstract":"<p><p>Farm environments serve as reservoirs for antibiotic-resistant bacteria and mobile genetic elements (MGEs), spreading resistance genes. Klebsiella pneumoniae, a nosocomial opportunistic pathogen, often acquires resistance through MGEs. This study examined the prevalence, resistance patterns, and factors associated with MGEs in K. pneumoniae isolates, focusing on environmental and management practices. 48 pooled samples were collected from environmental niches in three major districts of Bangladesh including Dhaka, Barisal, and Sylhet and analyzed using standard microbiological techniques and PCR. Antibiotic susceptibility was assessed per CLSI (2020) guidelines, and multidrug-resistant (MDR) strains were identified. Genotypic resistance patterns and mobile genetic elements (MGEs), including class 1 integrons and plasmids, were detected via PCR. Fisher's exact test evaluated factors associated with MGEs. Overall, 66.66% tested positive for K. pneumoniae. Regarding resistance patterns, the highest resistance was observed to ertapenem (90.6%) and ampicillin (84%), while complete sensitivity was noted to several antibiotics, including amikacin and tigecycline. Among the tested isolates, 53.12% were identified as MDR. Genotypic analysis revealed that bla_CTX-M, bla_NDM-5,bla_Oxa-1 and bla_Oxa-48 were the most prevalent. Additionally, the presence of MGEs including class 1 integron and IncQ type plasmid were significantly associated with factors such as poor sanitation, antibiotic misuse, and high cattle density, highlighting critical areas for intervention. This study revealed that MDR K. pneumoniae circulates in food animals' farm environments in Bangladesh, with environmental factors strongly linked to the presence of MGEs. Farm niches, particularly soil, act as key reservoirs of MGEs and resistance genes. Importantly, these also carry serious implications for human health, as resistance genes may transfer to clinical settings, exacerbating the burden of AMR. Strengthening environmental and agricultural policies through a One Health approach is essential to mitigate the public health threat posed by antimicrobial resistance.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"114"},"PeriodicalIF":2.1,"publicationDate":"2025-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12232692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144574780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Antibiotic resistance genes circulating in Nigeria: a systematic review and meta-analysis from the One Health perspective.","authors":"Emmanuel N Ugbo, Fleischer C N Kotey, Eric S Donkor","doi":"10.1186/s12920-025-02163-y","DOIUrl":"10.1186/s12920-025-02163-y","url":null,"abstract":"","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"113"},"PeriodicalIF":2.1,"publicationDate":"2025-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12232655/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144574779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Driver mutations and malignant pleural effusion in non-small cell lung cancer.","authors":"Ugur Temel, Onur Derdiyok","doi":"10.1186/s12920-025-02180-x","DOIUrl":"10.1186/s12920-025-02180-x","url":null,"abstract":"<p><strong>Background: </strong>Malignant pleural effusion (MPE) complicates approximately 50% of non-small cell lung cancer (NSCLC) cases, signaling advanced disease and poor patient outcomes. While molecular alterations such as ALK, ROS1, and T790M mutations, as well as PD-L1 expression, are critical in NSCLC progression, their relationship with MPE development remains inadequately characterized.</p><p><strong>Methods: </strong>This retrospective cohort study examined 130 NSCLC patients (52 with MPE, 78 without MPE). Clinical characteristics and comprehensive molecular profiles were analyzed using next-generation sequencing. Statistical comparisons were performed, and a Least Absolute Shrinkage and Selection Operator (LASSO) regularized logistic regression model identified independent predictors of MPE. Model performance was evaluated using receiver operating characteristic (ROC) analysis.</p><p><strong>Results: </strong>PD-L1 expression demonstrated a significant association with MPE development (Odds ratio = 2.78, p < 0.01), nearly tripling the likelihood of effusion. The presence of ALK, ROS1, and T790M mutations (combined OR = 2.41, p < 0.05) also showed predictive value for MPE formation. Several clinical factors independently correlated with MPE, including advanced age, heavy smoking history (> 50 pack-years), and right inferior lobe tumor location (all p < 0.05). The predictive model demonstrated robust performance with an area under the curve of 0.80.</p><p><strong>Conclusions: </strong>These findings establish important associations between specific driver mutations and PD-L1 expression in relation to MPE development in NSCLC patients. Identifying these genetic and clinical predictors may enhance risk stratification approaches and guide personalized treatment strategies, especially for those with advanced disease. Further prospective validation studies are needed to confirm these associations and explore their therapeutic implications.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"112"},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12220507/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144538016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of mitophagy-related biomarkers with immune cell infiltration in psoriasis.","authors":"Shanshan Yu, Fangyuan Long, Hui Yan, Yongfang Xu, Jun Li, Zhimin Hao","doi":"10.1186/s12920-025-02176-7","DOIUrl":"10.1186/s12920-025-02176-7","url":null,"abstract":"<p><strong>Background: </strong>Psoriasis is an inflammatory disorder characterized by scaly erythematous plaques and significant comorbidities. Recent studies have suggested that impaired mitophagy, the cellular mechanism for removing dysfunctional mitochondria, may contribute to the pathogenesis of psoriasis.</p><p><strong>Methods: </strong>In this study, we analyzed bulk RNA sequencing data from 167 healthy individuals and 177 patients with psoriasis obtained from the Gene Expression Omnibus database (GSE30999 and GSE54456). Mitophagy-related genes were isolated using weighted gene co-expression network analysis. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses were performed and protein-protein interaction networks were constructed for the functional enrichment of genes associated with mitophagy. The correlations between genes associated with mitophagy, signaling pathways, and immune cell infiltration were analyzed. The potential diagnostic value of genes associated with mitophagy was evaluated using receiver operating characteristic (ROC) curves, which were validated in imiquimod-induced psoriatic skin lesions in mice.</p><p><strong>Results: </strong>We identified 3,839 differentially expressed genes between healthy individuals and patients with psoriasis, and 23 genes were selected as hub genes showing a high correlation with mitophagy in psoriasis. GO and KEGG analyses revealed that hub and associated genes were significantly correlated with skin functions, such as epidermal development and keratinocyte differentiation. In addition, mitophagy-related genes were negatively associated with pro-inflammatory and pro-proliferation pathways in psoriasis. Among the immune cells, CD4⁺ T cells were most significantly affected by mitophagy-related genes. ROC analysis demonstrated that mitophagy-related genes, especially ACER1, C1ORF68, CST6, FLG2, GJB3, GJB5, GPRIN2, KRT2, and SPRR4 were potential biomarkers of psoriasis for use in diagnosis or treatment.</p><p><strong>Conclusions: </strong>Mitophagy-related genes play crucial roles in psoriasis and have potential use as biomarkers, providing insights into disease mechanisms and therapeutic targets. Further research may lead to the development of new strategies for psoriasis management.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"110"},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12220333/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144538019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular characterization, clinical phenotype, and neurological outcome of twelve Palestinian children with beta-ketothiolase deficiency: report of two novel variants in the ACAT1 gene.","authors":"Imad M Dweikat, Hamza A Abdul-Hafez, Alaa Zayed, Moien Kanaan, Hanin Kasem, Rami Bzour","doi":"10.1186/s12920-025-02175-8","DOIUrl":"10.1186/s12920-025-02175-8","url":null,"abstract":"<p><strong>Background: </strong>Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency (OMIM #203750, *607809) is an autosomal recessive disorder of isoleucine catabolism and ketone body utilization. It is caused by mutations in the ACAT1 gene and characterized by intermittent ketoacidosis episodes triggered by ketogenic stresses, with no clinical symptoms between the episodes. Neurological complications, particularly extrapyramidal signs may occur as sequelae of the ketoacidosis episodes but may also occur without or before any apparent metabolic crisis. T2 deficiency is characterized by the accumulation of isoleucine metabolites, 2methylacetoacetate, 2-methyl-3-hydroxybutyrate, and tiglylglycine, detected in urine organic acids and blood acylcarnitines with or without hypoglycemia.</p><p><strong>Methods: </strong>This study presents data from twelve patients with T2 deficiency, diagnosed between 7 months and 22 months of age at two tertiary care centers in Palestine. The clinical, biochemical, molecular genetic data, and neurological outcomes are reviewed.</p><p><strong>Results: </strong>We report on twelve patients (6 females and 6 males) from eight families in four different regions of the West Bank and Gaza Strip. All patients were offspring of consanguineous marriages. Ketoacidotic episodes were the predominant manifestations in all patients, and each episode was triggered by either acute gastroenteritis or upper respiratory infections. One patient initially presented with hypotonia and psychomotor delay, later developing a ketoacidotic episode a few months afterward. The characteristic laboratory finding in all patients was the increased urinary excretion of 2-methyl-3-hydroxybutyrate and tiglylglycine. Ten of the twelve patients had favorable outcomes, while two unfortunately passed away at the time of the study. Molecular genetic analysis of the ACAT1 gene was conducted on nine patients from six families, revealing four different variants, two of which were novel. Additionally, a founder mutation was identified in six patients from three families.</p><p><strong>Conclusions: </strong>The study underscores the critical role of genetic research in unraveling the complexities of beta-ketothiolase deficiency and related disorders. By identifying haplotype blocks, founder mutations, and novel pathogenic variants, researchers can significantly improve diagnostic precision, enhance genetic counseling, and lay the groundwork for developing targeted therapies. We identified two novel variants and a founder mutation, thereby broadening the genetic spectrum of this rare disease.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"106"},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12211740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144538030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of the pri-miR-34b/c rs4938723 T > C polymorphism with hepatoblastoma susceptibility in Eastern Chinese children: A five-center case-control study.","authors":"Wenli Zhang, Jinhong Zhu, Jun Bian, Chunlei Zhou, Shouhua Zhang, Shaohua He, Hongting Lu, Yizhen Wang, Jing He","doi":"10.1186/s12920-025-02179-4","DOIUrl":"10.1186/s12920-025-02179-4","url":null,"abstract":"<p><strong>Background: </strong>Hepatoblastoma is the most prevalent liver cancer affecting children, and its intricate causes are closely linked to genetic variations. This study interrogated the influence of the miR-34b/c rs4938723 T > C polymorphism in hepatoblastoma predisposition in a Han Chinese children study population, comprising 193 cases and 773 controls from East China.</p><p><strong>Methods: </strong>Genotyping was performed via the TaqMan technique. The association between this genetic variant and hepatoblastoma susceptibility was determined via logistic regression models adjusted for age and sex.</p><p><strong>Results: </strong>Our results show that the TC genotype of the miR-34b/c rs4938723 polymorphism is associated with a significantly reduced risk of hepatoblastoma under a heterozygous model (adjusted OR = 0.59, 95% CI = 0.41-0.84, P = 0.003), whereas the CC genotype is associated with an increased risk under a recessive model (adjusted OR = 1.79, 95% CI = 1.17-2.73, P = 0.008). Further stratified analysis revealed that the TC/CC genotypes were linked to a lower risk of hepatoblastoma in girls and those with advanced clinical stages (III + IV). Furthermore, we identified the miR-34b/c rs4938723 polymorphism as an expression quantitative trait locus that affects the expression of nearby genes. The CC genotype was related to a decrease in LAYN expression in the colon, brain, and lung and decreased PPP2R1B expression in the testis. These findings suggest that miR-34b/c rs4938723 T > C has the potential to modify hepatoblastoma predisposition through its regulatory effects on gene expression.</p><p><strong>Conclusions: </strong>This study provides evidence for the association between the miR-34b/c rs4938723 polymorphism and hepatoblastoma risk in Chinese Han children from East China, suggesting that this polymorphism may have potential as a biomarker for predicting hepatoblastoma susceptibility in this specific population.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"105"},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12211766/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144538015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating the molecular mechanisms, drug prediction, and validation of CCNA2 and MAD2L1 in esophageal squamous cell carcinoma based on bioinformatics.","authors":"Chenfan Guo, Pandeng Wang, Diemei Huang, Jianji Guo, Tao Liu","doi":"10.1186/s12920-025-02173-w","DOIUrl":"10.1186/s12920-025-02173-w","url":null,"abstract":"<p><strong>Objective: </strong>Aims to comprehensively investigate the expression patterns of CCNA2 and MAD2L1 in esophageal squamous cell carcinoma using bioinformatics methods.</p><p><strong>Methods: </strong>Based on WGCNA analysis of gene mutation expression, methylation level distribution, mRNA expression and ESCC-related genes in public databases, were employed for investigating potential biomarkers for prognosis of esophageal squamous cell carcinoma(ESCC).Finally,. performing qRT-PCR and immunohistochemistry to validate.</p><p><strong>Results: </strong>Ultimately identified 4 hub genes: CDK1, CCNA2,TOP2A and MAD2L1. Bioinformatics analysis showed high expression of these four genes in ESCC (P < 0.05). CCNA2 and MAD2L1 were selected for subsequent analysis based on literature.3.Single gene enrichment analysis revealed significant enrichment of CCNA2 and MAD2L1 in pathways related to splicing, bladder cancer, non-homologous end joining and homologous recombination, glycosaminoglycan biosynthesis chondroitin sulfate, progesterone-mediated oocyte maturation and mismatch repair. PASTAA database indicated the involvement of transcription factors such as Roralpha1, Pou6f1, Roralpha2, Atf-1, Pax-3, C/ebpalpha, Nkx2-1 in the regulation of CCNA2, while no transcription factors were predicted for MAD2L1..Immune infiltration analysis revealed a close association between ESCC and plasma cells, CD8 + T cells, monocytes, M0 macrophages, M1 macrophages, dendritic cells, and resting mast cells.Drug prediction for CCNA2 included 7 drugs such as ETHINYL ESTRADIOL, Seliciclib and TAMOXIFEN, while no drugs were predicted for MAD2L1.qRT-PCR and immunohistochemistry demonstrated high expression of CCNA2 in ESCC, while MAD2L1 showed no significant difference between ESCC and normal esophageal squamous epithelial tissues.</p><p><strong>Conclusion: </strong>CCNA2 and MAD2L1 may be potential biomarkers for ESCC, providing a novel basis for understanding the molecular mechanisms underlying ESCC pathogenesis.Additionally, the potential drugs predicted for CCNA2 may emerge as a new hope for ESCC patients in the future.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"107"},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12220377/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144538029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From gene expression to causal associations: investigating the role of ferroptosis in cataract development.","authors":"Chen Li, Xian-Bing Yuan, Yi-Cheng Lu, Zi-Yue Song","doi":"10.1186/s12920-025-02177-6","DOIUrl":"10.1186/s12920-025-02177-6","url":null,"abstract":"<p><strong>Background: </strong>Cataracts are one of the most prevalent blinding eye diseases globally, and ferroptosis may be involved in its pathogenesis; however, the precise mechanisms remain unclear. We therefore aimed to identify ferroptosis-related genes (FRGs) related to cataracts and assess their causal association.</p><p><strong>Methods: </strong>We downloaded two gene expression profile datasets of patients with cataracts and gathered the FRGs from the MSigDB and GeneCards databases. This allowed us to find the ferroptosis-related differentially expressed genes (FRDEGs). The potential functions of these FRDEGs were explored using Kyoto Encyclopedia of Genes and Genomes (KEGG), gene ontology (GO), and gene set enrichment analysis (GSEA). A protein-protein interaction (PPI) network was established, and hub genes were screened. Additionally, potential diagnostic markers were identified by RT-PCR validation. Finally, a Mendelian randomization (MR) study was performed to ascertain the causal impact of FRDEGs on cataracts.</p><p><strong>Results: </strong>Nineteen FRDEGs were identified by overlapping DEGs with FRGs. GO, KEGG and GSEA showed that the FRDEGs were associated with oxidative stress, IL17 signaling pathway, and glutathione metabolism. Nine hub genes were identified using the PPI network and five algorithms in Cytoscape. The RT-PCR results validated TIGAR, IL6, ATF3, and TNFAIP3 as potential biomarkers.</p><p><strong>Conclusion: </strong>TIGAR and IL6 were identified to be causally associated with cataracts. Inverse variance weighting revealed that TIGAR decreased the risk of cataracts, whereas IL6 increased the risk of cataract. Our research identified ferroptosis-related hub genes in cataracts, providing valuable insights for pre-symptomatic diagnosis and contributing to our understanding of the molecular mechanisms of cataract risk genes.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"111"},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12219257/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144538018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}