Human Genomics最新文献

{"title":"TRP channels in hepatocellular carcinoma: integrative Mendelian randomization and multi-omics analyses highlight MCOLN3/TRPV4 as candidate dual-effect biomarkers.","authors":"Zhe Xu, Chong Pang, Xundi Xu","doi":"10.1186/s40246-025-00807-9","DOIUrl":"10.1186/s40246-025-00807-9","url":null,"abstract":"<p><strong>Background: </strong>The causal relationship between Transient receptor potential (TRP) and hepatocellular carcinoma (HCC) remains unclear. Our study aimed to identify potential drug targets for HCC within the TRP family using Mendelian randomization (MR).</p><p><strong>Methods: </strong>The gene expression quantitative trait loci (eQTL) data for TRP was sourced from eQTLGen Consortium. Summary statistics for HCC came from European (nCase = 379, nControl = 475,259) and East Asian population (nCase = 2122, nControl = 159,201). We undertook main MR analysis in the European population using the R package 'TwosampleMR', with significance determined through Bonferroni correction. The East Asian population serves as the validation cohort. Sensitivity analyses include Steiger filtering, bidirectional MR analysis, multivariable MR (MVMR) analysis, and phenotype scanning for further validation of causal relationships.</p><p><strong>Results: </strong>Main MR analysis had identified two causal TRPs, MCOLN3 (OR = 1.59, 95% CI: 1.24-2.06) and TRPV4 (OR = 0.597, 95% CI: 0.407-0.875). No heterogeneity or pleiotropy was detected. The basal metabolic rate may partially mediate the causal effect of TRPV4 on HCC. Drugs such as cisplatin and Cannabidiol were identified for their potential action on causal TRPs. High expression of MCOLN3 may lead to increased sensitivity to sorafenib, while patients with low expression of MCOLN3 and TRPV4 were more likely to benefit from immunotherapy. Furthermore, we revealed the expression landscape of causal TRPs in HCC by performing integrated multi-omics analyses.</p><p><strong>Conclusions: </strong>This MR analysis revealed a causal relationship between TRP and HCC, and MCOLN3 and TRPV4 were potential drug targets. They also served as potential molecular biomarkers for the efficacy of immunotherapy and/or targeted therapy, providing a strong theoretical basis for the clinical application of TRPs.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"87"},"PeriodicalIF":4.3,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12329876/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144798968","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 genome-wide pleiotropy study between atopic dermatitis and neuropsychiatric disorders.","authors":"Charalabos Antonatos, Alexandros Pontikas, Adam Akritidis, Dimitra Mitsoudi, Sophia Georgiou, Alexander J Stratigos, Aikaterini Zacharopoulou, Stamatis Gregoriou, Katerina Grafanaki, Yiannis Vasilopoulos","doi":"10.1186/s40246-025-00801-1","DOIUrl":"10.1186/s40246-025-00801-1","url":null,"abstract":"<p><p>Atopic dermatitis (AD) frequently co-occurs with neuropsychiatric disorders, yet the genetic basis for this comorbidity is unclear. We performed a large-scale genome-wide pleiotropy approach to investigate the genetic correlations and causal associations between AD and five neuropsychiatric disorders, attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder (BP), major depressive disorder (MDD), and schizophrenia (SCZ). We identified significant positive genetic correlations between AD and ADHD, MDD and BP. Genome-wide pleiotropy scans identified 37 distinct pleiotropic loci, mapped in 86 unique genes participating in inflammatory pathways. Pleiotropy-informed target prioritization facilitated the identification of novel pathophysiological mechanisms for AD and putative drug targets, such as members of TNF and JAK-STAT3 signaling. Mendelian randomization provided evidence of a causal relationship between genetic liability to MDD and BP in increased AD risk, independent of sample overlap. Our findings elucidate immune-related pathway crosstalks between AD and neuropsychiatric disorders with implications for therapeutic interventions.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"86"},"PeriodicalIF":4.3,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12297686/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144717886","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 novel LACC1 variant c.658G>A (p. Asp220Asn) in familial juvenile arthritis: identification and functional analysis.","authors":"Hiba Alblooshi, Noor Mustafa, Azeem Abdul Khalam, Anjali Bharathan, Ekhlass Mohammed, Ibrahim Baydoun, Mushal Allam, Meera Almansoori, Tabeer Fatima, Najla Aljaberi","doi":"10.1186/s40246-025-00800-2","DOIUrl":"10.1186/s40246-025-00800-2","url":null,"abstract":"<p><strong>Background: </strong>Juvenile Idiopathic Arthritis (JIA) represents the most prevalent chronic rheumatic disease in childhood. Its etiology is multifactorial, with growing evidence pointing to a significant genetic contribution to disease susceptibility. Recent genomic studies have identified a range of inherited variants associated with distinct arthritis phenotypes, among which LACC1-related arthritis has emerged as a notable contributor, particularly in familial cases with variable clinical presentations. In this study, we report the clinical and genetic characterization of a novel LACC1 c.658G>A (p. Asp220Asn) variant identified in multiple affected individuals within a large consanguineous extended family, providing further insights into the genetic underpinnings of familial juvenile arthritis.</p><p><strong>Methods: </strong>whole exome sequencing (WES) was performed on affected patients and findings were confirmed using sanger sequencing in family members. In-silico protein modeling was performed for model evaluation and visualization. LACC1 protein expression was measured in isolated and differentiated macrophages from selected patients and their carrier relatives. Allele frequency of LACC1 variants were analyzed in available in-house datasets.</p><p><strong>Results: </strong>Four affected patients with non-systemic seronegative juvenile arthritis of different severities were found to have a novel homozygous mutation in LACC1 c.658G>A (p. Asp220Asn). Parents of affected patients were all heterozygous carriers. LACC1 protein expression showed variability, but it was markedly reduced in the index patient with the most severe phenotype. Analysis of allele frequency of other LACC1 variants showed equivalent distribution in both JIA and non-JIA genetic datasets.</p><p><strong>Conclusion: </strong>Characterizing the molecular mechanisms of LACC1-related arthritis may refine the biological taxonomy of JIA. This work contributes to the understanding of monogenic juvenile arthritis forms and supports the integration of LACC1 testing into the diagnostic approach for familial or atypical cases.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"85"},"PeriodicalIF":4.3,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12297826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144717887","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":"Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review.","authors":"Yujing Zhang, Mengxi Zhao, Xiangqian Li, Yongping Zhao, Yijie Sun, Jianzhong Zhang, Cong Yu, Cheng Zhou","doi":"10.1186/s40246-025-00798-7","DOIUrl":"10.1186/s40246-025-00798-7","url":null,"abstract":"<p><strong>Background: </strong>Congenital hypotrichosis 14 is a nonsyndromic form of alopecia associated with pathogenic variants in the lanosterol synthase (LSS) gene. Recent studies have expanded the spectrum of LSS-related phenotypes, including congenital cataracts, alopecia-intellectual disability syndrome, and palmoplantar keratoderma. Currently, investigations into this disease are still limited, and its treatment remains elusive.</p><p><strong>Methods: </strong>In this study, we aimed to report six Chinese patients who were diagnosed with hypotrichosis 14, whose conditions were attributed to five novel and recurrent variants in the LSS gene identified via whole exome sequencing. Moreover, the reported LSS gene has also been summarized.</p><p><strong>Results: </strong>We described six patients in five Chinese families with hair loss, and one of whom had a rare accompanying phenotype of hypergonadotropic hypogonadism, which has rarely been reported. Five novel variants were discovered in the LSS gene, including c.919_921del (p.His307del), c.1987 C > T (p.Arg663Trp), c.982 C > T (p.Arg328*), c.1405_1407del (p.Glu469del) and c.193_200dup (p.Pro68Argfs*14).</p><p><strong>Conclusions: </strong>Our comprehensive summary of phenotypes caused by LSS gene variants not only enriches the existing knowledge on congenital hypotrichosis 14 but also provides crucial guidance for more accurate genetic counseling and potentially new directions for future research in understanding the disease mechanism and developing targeted therapies.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"84"},"PeriodicalIF":4.3,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12285103/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690067","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":"Association between fumarate hydratase variant subtypes and the risk of HLRCC-associated renal cell carcinoma: systematic review and meta-analysis.","authors":"Han Wang, Shamsnur Rehim, Hongjing Wang","doi":"10.1186/s40246-025-00797-8","DOIUrl":"10.1186/s40246-025-00797-8","url":null,"abstract":"","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"83"},"PeriodicalIF":3.8,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12282009/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144682507","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":"BioSTEM: A modern educational tool for research and innovation in the field of molecular biology and personalized medicine.","authors":"George P Patrinos, Stavroula Siamoglou, Konstantinos Lazaros, Vasilios Xirafas, Aristidis G Vrahatis, Christina Mitropoulou","doi":"10.1186/s40246-025-00786-x","DOIUrl":"10.1186/s40246-025-00786-x","url":null,"abstract":"<p><p>Personalized Medicine has the potential to transform modern healthcare by tailoring medical decisions to an individual's unique genomic profile. However, its integration into routine clinical practice is hindered by limited genomics education among healthcare professionals and a general lack of public awareness. To address these challenges, we introduce the BioSTEM initiative, an innovative educational tool designed for primary, elementary, and high school students. BioSTEM combines optimized online learning modules with interactive audiovisual content, fostering direct communication between students and educators. It also integrates alternative learning strategies, such as online games and comics, to enhance engagement with topics in Biology, Molecular Biology, Genetics, and Personalized Medicine. Since 2016, BioSTEM has reached over 6,000 students across three countries through a combination of theoretical instruction and hands-on experiments using a portable molecular biology laboratory. Our results indicate that participation in BioSTEM significantly improved students' and educators' perception of their understanding of concepts in Genetics and Personalized Medicine. Participants reported a stronger grasp of genomic concepts and expressed support for incorporating BioSTEM into the standard biology curriculum. These findings suggest that BioSTEM is a promising and scalable approach to advancing biomedical education and fostering the development of genomic-literate citizens.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"82"},"PeriodicalIF":3.8,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261724/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636940","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 scRNA-seq reference contrasting living and early post-mortem human retina across diverse donor states.","authors":"Luning Yang, Yiwen Tao, Qi Pan, Tengda Cai, Yunyan Ye, Jianhui Liu, Yang Zhou, Yongqing Shao, Quanyong Yi, Zen Huat Lu, Lie Chen, Gareth McKay, Richard Rankin, Weihua Meng","doi":"10.1186/s40246-025-00796-9","DOIUrl":"10.1186/s40246-025-00796-9","url":null,"abstract":"<p><strong>Background: </strong>Current human retina studies predominantly utilize post-mortem tissue, and the sample accessibility constraints make the characterization of the living human retina at single-cell resolution a challenge. Although single-nucleus RNA-seq expands the utility of frozen samples, it provides a nuclear-centric view, potentially missing key cytoplasmic information and transient biological processes. Thus, it is important to generate resources directly from living human retinal tissue to complement existing datasets.</p><p><strong>Methods: </strong>We profiled 106,829 single cells from nine unfrozen human retina samples. Living samples were collected within 10 min of therapeutic enucleation and four postmortem samples were collected within 6 h. After standardized dissociation, single-cell transcriptomes were generated using 10x Genomics 3' RNA-seq and applied scVI to generate batch-corrected integrated atlas. Major cell types and subtypes were annotated through iterative Leiden clustering, canonical markers. Subsequent analyses included differential expression comparisons between cell states and regulon activity profiling to further characterize cellular identities and regulatory networks. Transcriptional dynamics were assessed using RNA velocity, and cell-cell signaling pathways were inferred with CellChat. Key findings were validated in independent samples from two additional donors (four samples) using the identical workflow.</p><p><strong>Results: </strong>We contribute to establishing a reference for retinal cell type proportions and cellular states. Our analysis revealed ELF1-mlCone, a distinct cluster of mlCone photoreceptors identified by distinct transcriptional features. The presence and transcriptional features of this cluster were validated in independent samples. Additionally, by comparing living and post-mortem samples, our study highlights differences in transcriptional dynamics: living tissue preserved coherent RNA velocity streams, enabling clear dynamic state transitions, while post-mortem tissue exhibited disorganized patterns. These findings suggest that using living tissue can improve the capture of active cellular states and transitions.</p><p><strong>Conclusions: </strong>Our atlas provides a single-cell reference contrasting living versus early postmortem human retina, integrating cell type composition, transcriptional diversity, and functional insights. It may serve as a useful resource for retinal research and for understanding aspects of human retinal biology, particularly given its inclusion of living tissue and diverse pathological states.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"81"},"PeriodicalIF":3.8,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261546/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636939","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":"Communicating clearly about data sharing in genomics.","authors":"Donrich Thaldar, Diya Uberoi, Adrian Thorogood, Richard Milne, Ainsley J Newson, Alison Hall, David Glazer, Paul Esselaar, Yann Joly","doi":"10.1186/s40246-025-00784-z","DOIUrl":"10.1186/s40246-025-00784-z","url":null,"abstract":"","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"80"},"PeriodicalIF":3.8,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12257658/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636941","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":"miR-144-3p targeting FLRT3 in osteogenic differentiation of mandibular bone marrow mesenchymal stem cells.","authors":"Jingjun Tian, Chen Lv, Tao Xie, Qi Sun, Changyu Liu, Wen Ma, Chaofeng Liu, Renyi Cheng, Kang Yin, Yanhua Xu","doi":"10.1186/s40246-025-00788-9","DOIUrl":"10.1186/s40246-025-00788-9","url":null,"abstract":"<p><strong>Background: </strong>Fibronectin Leucine-Rich Transmembrane Protein 3 (FLRT3) plays a crucial role in craniofacial development and osteogenic differentiation, yet the regulatory mechanisms of microRNAs (miRNAs) on FLRT3 remain largely unexplored. This study identifies miR-144-3p as a miRNA that targets FLRT3 and investigates its role in osteogenic differentiation. These findings provide a foundation for the development of miRNA-based therapeutic strategies for craniofacial diseases and contribute to a deeper understanding of FLRT3's involvement in osteogenesis.</p><p><strong>Methods: </strong>Mandibular bone marrow mesenchymal stem cells (MBMSCs) were isolated from SD rats using whole bone marrow and limiting dilution techniques. Flow cytometry and differentiation assays for osteogenesis and adipogenesis were conducted to characterize the cells. Bioinformatics analysis was employed to identify miRNAs that regulate FLRT3, with RT-qPCR used to select the most influential miRNA. A dual-luciferase reporter assay was performed to validate the interaction between the miRNAs and FLRT3. RT-qPCR measured miR-144-3p expression during osteogenic induction. Alkaline phosphatase and Alizarin Red S staining were used to assess the role of miR-144-3p in osteogenic differentiation. The impact of miR-144-3p on FLRT3, BMP2, and RUNX2 expression during osteogenesis was further evaluated by RT-qPCR.</p><p><strong>Results: </strong>MBMSCs exhibited spindle-shaped morphology, high purity, and robust proliferative capacity, with flow cytometry confirming positive expression of CD29 and CD90. Bioinformatics analysis identified four miRNAs associated with FLRT3: miR-27a-3p, miR-27b-3p, miR-199a-3p, and miR-144-3p, with miR-144-3p showing the strongest correlation. Dual-luciferase assays confirmed that FLRT3 is a target gene of miR-144-3p. Functional assays revealed that the miR-144-3p mimic decreased FLRT3 expression, while the inhibitor increased it. During osteogenic differentiation, miR-144-3p mimic inhibited osteogenesis, while the inhibitor enhanced it, corresponding to alterations in the expression of FLRT3, BMP2, and RUNX2.</p><p><strong>Conclusion: </strong>miR-144-3p regulates the osteogenic differentiation of MBMSCs by targeting and modulating FLRT3, with FLRT3 being a direct target of miR-144-3p. During osteogenic differentiation, miR-144-3p inhibits osteogenesis by downregulating FLRT3, BMP2, and RUNX2 expression. This study not only elucidates the miRNA-mediated regulatory mechanism in osteogenesis but also offers a novel strategy for mandibular bone defect repair.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"79"},"PeriodicalIF":3.8,"publicationDate":"2025-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12257803/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626074","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":"Integrating gut microbiome and neuroplasticity genomics in alcohol use disorder therapy.","authors":"Ilias Koutromanos, Evangelia Legaki, Nikolas Dovrolis, Efthimios Vassilopoulos, Arthur Stem, Vasilis Vasiliou, Elias Tzavellas, Maria Gazouli","doi":"10.1186/s40246-025-00793-y","DOIUrl":"10.1186/s40246-025-00793-y","url":null,"abstract":"<p><strong>Background: </strong>Alcohol Use Disorder (AUD) is a chronic neuropsychiatric condition with substantial public health impact. The interplay between gut microbiota and neuroplasticity-related genes presents a novel approach to understand AUD pathophysiology and treatment response. While microbial dysbiosis has been implicated in AUD, its correlation with gene expression changes in neuroplasticity pathways remains unexplored. This study investigates microbiome composition, microbial metabolic pathways, and their correlation with neuroplasticity-related genes in AUD patients undergoing treatment.</p><p><strong>Methods: </strong>We conducted a prospective observational study integrating gut microbiome 16S rRNA sequencing and host neuroplasticity-related gene expression profiling in AUD patients undergoing treatment which combines psychotherapeutic intervention along with oral diazepam administration followed by Pythagorean Self Awareness Intervention. Patients were classified as responders or non-responders, and microbial composition, functional pathways, and host-microbiota interactions were analyzed using multi-omic correlation frameworks.</p><p><strong>Results: </strong>Responders exhibited a microbiome enriched in short-chain fatty acid (SCFA)-producing bacteria (e.g., Lachnospiraceae), linked to gut barrier integrity and neurotransmitter synthesis. In contrast, non-responders demonstrated enrichment of inflammation-associated taxa (Succinivibrionaceae) and oxidative stress-related metabolic pathways. Correlation analysis revealed microbiome-mediated modulation of neuroplasticity-related genes measured from peripheral blood, including BDNF, GRIA1, CAMK2G, and EGR family genes, suggesting a gut-brain-genomic axis in AUD treatment response.</p><p><strong>Conclusions: </strong>This study highlights the role of gut microbiota as a modulator of neuroplasticity-related gene expression in AUD patients. Integrating microbiome and host genomic signatures could improve biomarker-based prediction of treatment response and inform precision medicine approaches for AUD. Future studies should expand these findings by incorporating multi-omic approaches, including epigenomics and exposomics, to refine microbiome-targeted interventions for addiction therapy.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"78"},"PeriodicalIF":3.8,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12255058/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144617397","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}