Human Genomics最新文献

{"title":"BAX-mediated ammonia-driven cell death: a novel prognostic and therapeutic target in clear cell renal cell carcinoma.","authors":"Xi Zhang, Zijie Yu, Lu Yin, Qiang Li, Shaohua He, Heng Li, Jian Li, Lian Sheng, Hongfei Wu, Hongqi Chen, Xiaoxu Zhu, Yang Lv","doi":"10.1186/s40246-025-00764-3","DOIUrl":"10.1186/s40246-025-00764-3","url":null,"abstract":"<p><strong>Background: </strong>ccRCC (clear cell renal cell carcinoma) is characterized by metabolic reprogramming and immunosuppression, leading to poor clinical prognosis. In recent years, ammonia-related cell death has attracted increasing attention as a novel mechanism related to tumor progression, but its role in ccRCC has not been clarified.</p><p><strong>Methods: </strong>In this study, the Ammonia-related Signature (AS) of ccRCC was constructed by integrating bioinformatics analysis and experimental verification. Multiple independent cohorts including TCGA, PMID 35,440,542 cohort, E-MTAB-1980, and GSE29609 were used to evaluate prognostic accuracy and clinical relevance, and biological functions of key ammonia related genes were explored by cell proliferation, clonal formation, migration, and invasion assays. ScRNA-seq was used to analyze interaction between AS and immune cells in ccRCC.</p><p><strong>Results: </strong>The ammonia-related prognostic model demonstrated robust predictive power in multiple datasets. The high AS group of patients with poor prognosis, and the tumor mutation load, immunosuppressive cell infiltration level and immune checkpoint molecular expression were higher. BAX was a key ammonia-related gene closely related to tumor progression, and its knockdown obviously inhibit proliferation, migration and invasion of ccRCC cells. Single-cell analysis confirmed the activation of ammonia-related signaling pathways in the tumor microenvironment, in particular revealing specific interactions between BAX-positive tumor cells and immunosuppressive cell populations.</p><p><strong>Conclusion: </strong>The ammonia-related cell death pathway, especially BAX, can be employed as a potential prognostic marker and therapeutic target for ccRCC, providing new ideas for individualized treatment strategies to overcome immunosuppression and improve clinical prognosis.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"57"},"PeriodicalIF":3.8,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12085854/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring potential methylation markers for ovarian cancer from cervical scraping samples.","authors":"Ju-Yin Lien, Lu Ann Hii, Po-Hsuan Su, Lin-Yu Chen, Kuo-Chang Wen, Hung-Cheng Lai, Yu-Chao Wang","doi":"10.1186/s40246-025-00763-4","DOIUrl":"10.1186/s40246-025-00763-4","url":null,"abstract":"<p><strong>Background: </strong>Ovarian cancer has the highest mortality rate among gynecological cancers, making early detection crucial, as the five-year survival rate drops from 92% with early-stage diagnosis compared to 31% with late-stage diagnosis. Current diagnostic methods such as histopathological examination and detection of cancer antigen 125 and human epididymis protein 4 biomarkers are either invasive or lack specificity and sensitivity. However, the Papanicolaou (Pap) test, which is widely used for cervical cancer screening, shows the potential for detecting ovarian cancer by identifying tumor DNA in cervical scrapings. Since aberrant DNA methylation patterns are linked to cancer progression, DNA methylation offers a promising avenue for early diagnosis. Therefore, this study aimed to develop a methylation-based machine-learning model to stratify patients with ovarian cancer from the cervical scraping samples collected via Pap test.</p><p><strong>Results: </strong>Cervical scrapings were collected by gynecologists using conventional Pap smears. In total, 160 samples were collected: 95 normal, 37 benign, and 28 malignant. Methylation data were generated using the Illumina Infinium MethylationEPIC BeadChip array, which contains approximately 850,000 CpG loci. Methylation data were initially divided into training and testing sets in a 3:1 ratio comprising 120 and 40 samples, respectively. A two-step methylation-based model was trained using the training data for classification: a principal component analysis (PCA) model, consisting of 30 features, to classify samples as normal or tumor; then a gradient boosting model, containing 16 features, to further stratify tumor samples as benign or malignant. The two-step model achieved an accuracy of 0.88 and an F1-score of 0.86 on the testing data. Furthermore, an over-representation analysis was conducted to explore the functions associated with genes mapped from differentially methylated positions (DMPs) in comparisons between normal and tumor samples, as well as between benign and malignant samples. These results suggest that DMPs may be associated with olfactory transduction when comparing normal versus tumor samples, and immune regulation when comparing benign and malignant samples.</p><p><strong>Conclusions: </strong>Our two-step model shows promise for predicting ovarian cancer and suggests that cervical scrapings may be a viable alternative for sample collection during screening.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"56"},"PeriodicalIF":3.8,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12085859/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"On the aspiration to decode the impact of genomics on performance in power and endurance sports.","authors":"Martin Flück, Benedikt Gasser, Alain Dössegger","doi":"10.1186/s40246-025-00750-9","DOIUrl":"10.1186/s40246-025-00750-9","url":null,"abstract":"","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"55"},"PeriodicalIF":3.8,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12084990/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144086180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeted multi-layer analysis of PANoptosis-associated genes in the etiology of chronic kidney disease.","authors":"Tong Li, Yingyue Zhang, Xingzhi Wang, Qi Liu, Xiaofei Ma, Manshu Sui","doi":"10.1186/s40246-025-00768-z","DOIUrl":"10.1186/s40246-025-00768-z","url":null,"abstract":"<p><strong>Background: </strong>Previous studies have examined the cellular and molecular interactions between chronic kidney disease (CKD) and PANoptosis, yet the genetic underpinnings remain unclear.</p><p><strong>Materials: </strong>Data at the summary level regarding the methylation, gene expression, and protein levels associated with PANoptosis were obtained from quantitative trait locus (QTL) studies. Genome-wide association study (GWAS) summary statistics for CKD were derived from a GWAS study, supplemented by a replication dataset from the FinnGen database. Genetic variants proximal to or within genes involved in PANoptosis, which showed robust associations with CKD, were utilized as instrumental variables. These variants were the subjected to SMR analysis to explore their causal relationship. The associations among QTLs were systematically analyzed. Additionally, a colocalization analysis was conducted to ascertain whether the signals identified corresponded to a shared genetic basis.</p><p><strong>Results: </strong>SMR and colocalization analysis revealed 28 methylation sites and 5 genes associated with CKD.Notably, cg01304814 (PRKAR2A) and cg09177106, cg15114474 (CCND1) were inversely associated with CKD risk. Integrating mQTL and eQTL data, we identified four genes (CCND1, GUCY2D, HGF, MADD) causally associated with CKD, with a positive correlation between HGF gene expression and protein levels.</p><p><strong>Conclusion: </strong>Our results provide evidence for the PANoptosis-related genes in the pathogenesis of CKD. Notably, PRKAR2A, HGF, CCND1 and MADD, emerged as potential mediators in the pathogenesis of CKD.</p><p><strong>Trial registration: </strong>Not applicable.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"53"},"PeriodicalIF":3.8,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12077045/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.","authors":"Sheyda Khalilian, Mohadeseh Fathi, Raheleh Tangestani, Pegah Larki, Arezou Sayad, Soudeh Ghafouri-Fard, Mohammad Miryounesi","doi":"10.1186/s40246-025-00771-4","DOIUrl":"10.1186/s40246-025-00771-4","url":null,"abstract":"<p><p>Limb-girdle muscular dystrophies (LGMD) designate diverse types of muscular dystrophies that predominantly affect proximal skeletal muscles. Although both autosomal recessive and dominant forms exist, the majority of cases are inherited in an autosomal recessive manner. Since the spectrum of genetic variants that cause this disorder is quite broad, next-generation sequencing techniques are the best diagnostic tools for LGMD. In this study, we provide an overview of mutation spectrum of LGMD-related genes in the Iranian patients using whole exome sequencing. Notably, CAPN3 and LAMA2 genes were the genes encompassing the highest frequencies of pathogenic or likely pathogenic variants in this cohort. Pathogenic and likely pathogenic variants were identified in CAPN3 gene in total of 10 cases out of 48 cases tested (20%). In addition, different variants in each of POMGNT1 and TTN genes were detected in five and four patients, respectively. Three patients had DYSF variants (6%). While the inheritance of the majority of cases was supposed to be in an autosomal recessive manner, in three cases, the disease inheritance was best explained by the dominant type (c.947 C > T variant in the DNAJB6, c.746G > A variant in the LMNA, and c.1417G > A variant in the TNPO3). The current study broadens the spectrum of LGMD-related mutations among Iranian patients and facilitates genetic counseling in the affected families.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"54"},"PeriodicalIF":3.8,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12076818/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143976862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bioinformatics analysis of circular RNAs associated with atrial fibrillation and their evaluation as predictive biomarkers.","authors":"Manman Wang, Yuanyuan Chen, Weiwei Yang, Xiangting Li, Genli Liu, Xin Wang, Shuai Liu, Ge Gao, Fanhua Meng, Feifei Kong, Dandan Sun, Wei Qin, Bo Dong, Jinguo Zhang","doi":"10.1186/s40246-025-00760-7","DOIUrl":"10.1186/s40246-025-00760-7","url":null,"abstract":"<p><strong>Background: </strong>Circular noncoding RNAs (circRNAs) are implicated in many human diseases, but their role in atrial fibrillation (AF) is poorly understood. In this study, we performed bioinformatics analysis of circRNA sequencing data to identify AF-related circRNAs.</p><p><strong>Methods: </strong>Left atrial appendage (LAA) samples were obtained from patients with valvular heart disease and were categorised into the sinus rhythm (SR; n = 4) and AF (n = 4) groups. CircRNA sequencing analysis was performed to identify differentially expressed (DE) circRNAs in AF patients. Functional enrichment analysis of DE circRNAs was performed to identify enriched Gene Ontology (GO) terms and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways.</p><p><strong>Results: </strong>We identified 3338 DE circRNAs, including 2147 upregulated and 1191 downregulated circRNAs, in AF patients. A ceRNA network of 16 DE circRNAs, 11 DE miRNAs, and 15 DE mRNAs was constructed. Functional enrichment analyses revealed that the AF-related DE circRNAs were enriched in response to vitamin D, the potassium channel complex, delayed rectifier potassium channel activity, osteoclast differentiation, primary immunodeficiency, endocrine and other factor-regulated calcium reabsorption and other processes. ROC curve analysis identified circRNA_00324, circRNA_17225, circRNA_16305, circRNA_10233, circRNA_05499, circRNA_03183, circRNA_14211, and circRNA_18422 as potential predictive biomarkers for distinguishing AF patients from SR patients, with AUC values of 0.9138, 0.7370, 0.8526, 0.6803, 0.8163, 0.8662, 0.7664, and 0.9320, respectively.</p><p><strong>Conclusions: </strong>In this study, we constructed an AF-related ceRNA network and identified eight circRNAs as potential predictive biomarkers of AF.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"52"},"PeriodicalIF":3.8,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12070608/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic significance of clonal hematopoiesis in STEMI: a 10-year follow-up reveals high-risk gene mutations.","authors":"Wen-Lang Fan, Jih-Kai Yeh, Li-Ching Hsieh, Ming-Lung Tsai, Ming-Yun Ho, Yi-Chun Huang, I-Chang Hsieh, Ming-Shien Wen, Chao-Yung Wang","doi":"10.1186/s40246-025-00757-2","DOIUrl":"10.1186/s40246-025-00757-2","url":null,"abstract":"<p><strong>Background: </strong>To elucidate the extent and clinical implications of clonal hematopoiesis of indeterminate potential (CHIP) prevalence in patients with ST-segment elevation myocardial infarction (STEMI), and to evaluate its utility as a contributory factor for risk stratification in long-term outcomes.</p><p><strong>Methods: </strong>Whole-exome sequencing was performed in a cohort of 101 patients presenting with STEMI who underwent emergency percutaneous coronary intervention. These patients were longitudinally followed for over 120 months. Their genomic data were compared with those from a control group of 706 individuals without cardiovascular events. Comparative analyses were conducted to identify patterns of CHIP between the STEMI and control cohorts.</p><p><strong>Results: </strong>In our cohort, 37.6% (n = 38) of STEMI patients exhibited somatic mutations associated with CHIP at a variant allele frequency of 1% or greater, compared to 22.8% (n = 161) in the control group. The most frequently detected mutations in STEMI patients were in the ASXL1 and CREBBP genes, each present in 5.0% of this cohort. Long-term follow-up revealed that STEMI patients with CHIP had a higher incidence of major adverse cardiovascular events (MACEs), with an adjusted hazard ratio of 2.23 (95% confidence interval (CI) 1.16-4.28, p = 0.015).</p><p><strong>Conclusion: </strong>CHIP is prevalent in the STEMI patient cohort and is significantly correlated with adverse clinical outcomes. Incorporating CHIP status could enhance the risk stratification process, thus informing more tailored clinical management strategies for STEMI patients.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"51"},"PeriodicalIF":3.8,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12067743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143978088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic variants of m¹A modification genes and the risk of neuroblastoma: novel insights from a Chinese case-control study.","authors":"Jiaming Chang, Lei Lin, Wenli Zhang, Jiliang Yang, Mengzhen Zhang, Huimin Yin, Xinxin Zhang, Chunlei Zhou, Yan Zou, Jing He","doi":"10.1186/s40246-025-00767-0","DOIUrl":"https://doi.org/10.1186/s40246-025-00767-0","url":null,"abstract":"<p><strong>Background: </strong>The N¹-adenosine methylation (m¹A) modification plays a significant role in various cancers. However, the functions of m¹A modification genes and their variants in neuroblastoma remain to be elucidated.</p><p><strong>Methods: </strong>We conducted a case-control study involving 402 neuroblastoma patients and 473 cancer-free controls from China via the TaqMan genotyping method to evaluate m¹A modification gene polymorphisms. Multivariate logistic regression analysis was conducted to estimate odds ratios (ORs) and 95% confidence intervals (CIs). Additionally, expression quantitative trait locus (eQTL) analysis utilizing the Genotype-Tissue Expression database was performed to investigate the impacts of significant polymorphisms on gene expression. The relationships between gene expression and the risk and prognosis of neuroblastoma patients were further examined via publicly available datasets by using the R2 platform.</p><p><strong>Results: </strong>We found that TRMT10C rs4618204 C > T significantly decreased neuroblastoma risk (CT/TT vs. CC: adjusted OR = 0.74, 95% CI = 0.56-0.97, P = 0.030). Moreover, polymorphisms of the TRMT10C (rs3762735), TRMT6 (rs451571 and rs236110), and ALKBH3 (rs10768993 and rs2292889) genes were associated with neuroblastoma risk in specific subgroups. Complete linkage disequilibrium and eQTL analysis revealed a significant association between rs4618204 C > T and reduced expression of the TRMT10C gene. Additionally, higher expression levels of the TRMT10C gene were observed to be linked to increased risk, malignancy, and poorer prognosis in neuroblastoma patients.</p><p><strong>Conclusions: </strong>TRMT10C rs4618204 C > T was demonstrated to be significantly associated with an increased risk of neuroblastoma and may serve as a potential molecular marker for early diagnosis. Further studies are warranted to fully elucidate the specific molecular mechanisms involved in this effect.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"50"},"PeriodicalIF":3.8,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12063421/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.","authors":"Belén García-Bohórquez, Purificación Marín-Reina, Elena Aller, Pilar Barberán-Martínez, Miguel Armengot, Roberto Llorens-Salvador, Inmaculada Concepción Almor-Palacios, José M Millán, Gema García-García","doi":"10.1186/s40246-025-00759-0","DOIUrl":"https://doi.org/10.1186/s40246-025-00759-0","url":null,"abstract":"<p><strong>Background: </strong>Ciliopathies are characterized by the dysfunction of cilia, being inherited retinal dystrophies (IRDs) included in sensory ciliopathies. Besides, oro-facial-digital syndrome (OFD) is caused by mutations in ciliary genes, leading to dysmorphic features. Mutations in TBC1D32 were associated to retinal dystrophy and OFD, defining this form as OFD-IX.</p><p><strong>Results: </strong>A clinical exome analysis performed on a patient presenting with OFD-IX and sensorineural hearing loss (SNHL) identified two variants in TBC1D32, one of which affects splicing, with its impact validated using a minigene assay.</p><p><strong>Conclusions: </strong>These results suggest that SNHL may represent a new clinical feature associated with this gene.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"49"},"PeriodicalIF":3.8,"publicationDate":"2025-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049765/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advancing translational exposomics: bridging genome, exposome and personalized medicine.","authors":"Dimosthenis Sarigiannis, Spyros Karakitsios, Ourania Anesti, Arthur Stem, Damaskini Valvi, Susan C J Sumner, Leda Chatzi, Michael P Snyder, David C Thompson, Vasilis Vasiliou","doi":"10.1186/s40246-025-00761-6","DOIUrl":"https://doi.org/10.1186/s40246-025-00761-6","url":null,"abstract":"<p><p>Understanding the interplay between genetic predisposition and environmental and lifestyle exposures is essential for advancing precision medicine and public health. The exposome, defined as the sum of all environmental exposures an individual encounters throughout their lifetime, complements genomic data by elucidating how external and internal exposure factors influence health outcomes. This treatise highlights the emerging discipline of translational exposomics that integrates exposomics and genomics, offering a comprehensive approach to decipher the complex relationships between environmental and lifestyle exposures, genetic variability, and disease phenotypes. We highlight cutting-edge methodologies, including multi-omics technologies, exposome-wide association studies (EWAS), physiology-based biokinetic modeling, and advanced bioinformatics approaches. These tools enable precise characterization of both the external and the internal exposome, facilitating the identification of biomarkers, exposure-response relationships, and disease prediction and mechanisms. We also consider the importance of addressing socio-economic, demographic, and gender disparities in environmental health research. We emphasize how exposome data can contextualize genomic variation and enhance causal inference, especially in studies of vulnerable populations and complex diseases. By showcasing concrete examples and proposing integrative platforms for translational exposomics, this work underscores the critical need to bridge genomics and exposomics to enable precision prevention, risk stratification, and public health decision-making. This integrative approach offers a new paradigm for understanding health and disease beyond genetics alone.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"48"},"PeriodicalIF":3.8,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12044731/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}