BMC Medical Genomics最新文献

{"title":"Identification of radiation-sensitive genes as biomarkers for biodosimetry: an ex vivo analysis of TNFRSF10B, ZMAT3, POLH, and PLK2 in human blood samples.","authors":"Mahsa Boogari, Hossein Mozdarani, Aziz Mahmoudzadeh, Amirabbas Ebrahimi","doi":"10.1186/s12920-025-02209-1","DOIUrl":"https://doi.org/10.1186/s12920-025-02209-1","url":null,"abstract":"","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"156"},"PeriodicalIF":2.0,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145273598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of genetic polymorphisms on drug response in Alzheimer's disease: a systematic review.","authors":"Fresthel Monica M Climacosa, Eric David B Ornos, Nicole Clarence Louise L Gapaz, Mary Gale R Guantia, Joana Marie C Cruz, Rafael Vincent M Manalo, Melody L Yu, Almeera P Qureshi, Ajina C Carampel, Joannes Luke B Asis, John Carlo B Reyes, Aira B Dacasin, Veeda Michelle M Anlacan","doi":"10.1186/s12920-025-02225-1","DOIUrl":"10.1186/s12920-025-02225-1","url":null,"abstract":"","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"154"},"PeriodicalIF":2.0,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12512622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145257268","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 mechanisms underlying the co-pathogenesis of abdominal aortic aneurysm and rheumatoid arthritis: evidence based on bioinformatics analysis and clinical data.","authors":"Youfu Wang, Ling Zhang, Wenhong Jiang, Quanxing Kuang, Xiao Qin","doi":"10.1186/s12920-025-02236-y","DOIUrl":"10.1186/s12920-025-02236-y","url":null,"abstract":"","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"155"},"PeriodicalIF":2.0,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12512918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145257208","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 CYP3A5 rs15524 and CYP3A7 rs776744 polymorphisms on tac IPV and clinical outcomes in early post-heart transplantation.","authors":"Yuhui Chai, Lili Hu, Yiping Zhu, Danni Quan, Yuhong Li, Xuebin Wang, Yunyun Yang, Zhuo Wang","doi":"10.1186/s12920-025-02231-3","DOIUrl":"10.1186/s12920-025-02231-3","url":null,"abstract":"<p><strong>Background: </strong>The intrapatient variability (IPV) of tacrolimus (Tac) has gradually become a new index for the prognosis of organ transplantation. The gene polymorphism is involved in the pharmacokinetic process of Tac. The aim of this study was to investigate the effects of genetic polymorphisms on Tac IPV and other clinical outcomes in heart transplant recipients during the early post-transplantation period.</p><p><strong>Methods: </strong>Our study retrospectively collected the clinical data and genotyping results of 48 heart transplant recipients. SPSS (21.0) and Graphpad Prism (8.0) were used to analyze the effect of gene polymorphism on Tac concentration (C₀) and clinical outcome.</p><p><strong>Results: </strong>The CYP3A5 rs15524 AA genotype has a higher trough concentrations/dose (C₀/D) value than G allele carriers, and CYP3A7 rs776744 CC genotype has a higher C₀/D value than T allele carriers. Patients with The CYP3A5 rs15524 and CYP3A7 rs776744 mutants had a higher IPV. One year after heart transplantation, the mortality of wild-type and mutant CYP3A5 rs15524 patients due to rejection was 0 vs. 10.7% (P = 0.255). The mortality caused by rejection in wild-type patients and mutant patients of CYP3A7 rs776744 was 4.5% vs. 7.7% (p = 0.564).</p><p><strong>Conclusions: </strong>Genetic polymorphisms of CYP3A5 rs15524 and CYP3A7 rs776744 affect tacrolimus metabolism in heart transplant recipients, significantly affecting Tac C₀/D during the early postoperative period. In addition, gene polymorphism may be related to Tac IPV and clinical outcome in patients with early heart transplantation.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"151"},"PeriodicalIF":2.0,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505756/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145243694","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":"CASC15 participated in the damage of vascular endothelial cells in atherosclerosis through interaction with miR-940.","authors":"Tairan Li, Zhaolan Yang, Kun Zhang, Wei Song, Bing Liu, Shun Xiao, Mingjin Guo, Meng Li","doi":"10.1186/s12920-025-02211-7","DOIUrl":"10.1186/s12920-025-02211-7","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to explore the role of long non-coding RNA cancer Susceptibility 15 (CASC15) and microRNA (miR)-940 in atherosclerosis (AS) and to elucidate their potential mechanisms of action using an in vitro cell model of AS.</p><p><strong>Methods: </strong>Human umbilical vein endothelial cells (HUVECs) were subjected to oxidized low-density lipoproteins (ox-LDL) induction to establish an atherosclerotic cell model, and the expression levels of CASC15 and miR-940 in this model were evaluated. Cell viability and apoptosis were detected using the Cell Count Kit (CCK)-8 assay and flow cytometry, respectively. Quantitative real-time PCR was employed to quantify gene expression levels of CASC15, miR-940, and cell adhesion molecules intercellular adhesion molecule (ICAM)-1 and vascular cell adhesion molecule (VCAM)-1, while Enzyme-linked immunosorbent assay was used to measure the protein levels of interleukin (IL)-1β, IL-6, and tumor necrosis factor (TNF)-α. Bioinformatics analysis was utilized to explore the target genes of miR-940 and their functional implications.</p><p><strong>Results: </strong>The expression of CASC15 and miR-940 in ox-LDL-induced HUVECs showed an increase in CASC15 and a decrease in miR-940. Notably, miR-940 is a downstream target gene of CASC15. CASC15 knockdown mitigated ox-LDL-induced autophagy flux impairment, thereby promoting autophagy, whereas decreased levels of miR-940 significantly inhibit autophagy. Inhibition of CASC15 alleviates endothelial dysfunction caused by ox-LDL primarily through promoting activity and reducing apoptosis and inflammation. Conversely, a decrease in miR-940 exacerbates endothelial dysfunction. The addition of an autophagy activator relieved endothelial dysfunction, highlighting the involvement of the CASC15/miR-940 axis in regulating autophagy, and its role in modulating endothelial function impairment through autophagy regulation.</p><p><strong>Conclusion: </strong>Inhibition of CASC15 alleviates ox-LDL-induced endothelial dysfunction, potentially through the activation of autophagy via the modulation of miR-940.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"153"},"PeriodicalIF":2.0,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145243425","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":"Overexpression of CCK Neuropeptide in brain is linked to ZBTB20 mutations: potential diagnostic relevance in glioblastoma.","authors":"Tikam Chand Dakal, Narendra Kumar Sharma, Vikas Yadav, Abhishek Kumar, Peng Chen, Ingo Schmidt-Wolf, Jarek Maciaczyk, Amit Sharma","doi":"10.1186/s12920-025-02218-0","DOIUrl":"10.1186/s12920-025-02218-0","url":null,"abstract":"","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"150"},"PeriodicalIF":2.0,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505565/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145243405","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":"Alcohol exposure significantly influences gene expression in the hypothalamus, highlighting complex links with gonadotropin-releasing hormone signaling and thyroid hormone production in adolescent mice.","authors":"Guangtao Sun, Yujing Peng, Chenxu Hu, Yifan Zheng, Yu Cheng, Xunzhong Qi, Yuling Jin","doi":"10.1186/s12920-025-02235-z","DOIUrl":"10.1186/s12920-025-02235-z","url":null,"abstract":"<p><strong>Objective: </strong>Hypothalamic dysfunction occurs in alcohol use disorder (AUD). Here, we investigated the effects of alcohol exposure on hypothalamic gene expression in mice, and examined the role of the hypothalamus in AUD pathogenesis.</p><p><strong>Methods: </strong>An alcohol exposure model was constructed in male C57BL/6 mice using the two-bottle drinking method. Transcriptome sequencing was used to analyze differential gene expression in the hypothalamus of alcohol exposure model and control mice. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses of the differentially expressed genes were performed. In addition, real-time quantitative PCR was used to verify the differential expression of genes.</p><p><strong>Results: </strong>We identified 225 differentially expressed genes by transcriptome sequencing, of which 64 showed increased expression and 161 decreased expression. GO enrichment analysis showed highest enrichment for developmental process terms. KEGG enrichment analysis showed highest enrichment for the gonadotropin-releasing hormone (GnRH) signaling pathway. PCR validation showed reduced expression of Prkcd, Ptk2b, and Adcy1 in the alcohol group compared with the control group, consistent with the sequencing results. The thyroid hormone synthesis pathway was significantly enriched, and PCR results showed that expression of Adcy1, Gpx2, and Ttr were decreased in the alcohol group compared with the control group, which was consistent with the sequencing results.</p><p><strong>Conclusion: </strong>Alcohol exposure in mice modulates the expression of genes associated with hypothalamic GnRH signaling pathway and thyroid hormone synthesis pathway. Expression of GnRH signaling pathway genes, Prkcd and Ptk2b, and of thyroid hormone synthesis pathway genes, Gpx2, Ttr, and Adcy1, was decreased. Our findings indicate that alcohol exposure is associated with altered expression of these genes, which may be relevant to the pathophysiology of AUD.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"152"},"PeriodicalIF":2.0,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12506331/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145243701","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":"Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.","authors":"Jeesun Yoo, A Young Park, Jung Min Ko","doi":"10.1186/s12920-025-02226-0","DOIUrl":"10.1186/s12920-025-02226-0","url":null,"abstract":"<p><strong>Background: </strong>Wiedemann-Steiner syndrome (WSS) is a genetic malformation syndrome caused by abnormalities in KMT2A. It is characterized by developmental delays, facial dysmorphism, hypertrichosis, failure to thrive, and musculoskeletal anomalies. Expanded applications of exome sequencing have increased the number of confirmed cases, broadening our understanding of the WSS spectrum.</p><p><strong>Methods: </strong>We collected and organized the clinical and molecular features of 10 unrelated Korean patients diagnosed with WSS using molecular analysis. Clinical characteristics were presented based on the electronic medical records of the patients' regular visits.</p><p><strong>Results: </strong>Subject patients consisted of four male and six female patients. The median patient age at diagnosis was 6.76 years. In most cases, the chief complaint upon visiting a clinician was developmental delay (8/10). The most frequently observed phenotypes included failure to thrive (9/10), short stature (7/10), developmental delay (10/10), and hypertrichosis (10/10). The degree of developmental delay varied among the patients. The majority (9/10) were diagnosed by exome sequencing, with the exception of one patient (1/10) who had a microdeletion at 11q23.3, encompassing partial KMT2A, as diagnosed by chromosomal microarray. All patients had private pathogenic or Likely pathogenic variants without any recurrent variants, and nine of the 10 variants were novel.</p><p><strong>Conclusions: </strong>Most Korean patients with WSS exhibited suggestive features, but most were not pathognomonic of WSS; thus, many patients may only be identifiable by molecular analyses. Phenotypes frequently overlap with other chromatinopathy syndromes. Future studies are needed to determine the genetic background of patients with molecularly unresolved WSS and to further delineate WSS.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"149"},"PeriodicalIF":2.0,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12502264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145237613","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":"Bone marrow mesenchymal stem cell-derived exosomes attenuate hepatic stellate cell activation through miR-223-3p-mediated mitophagy.","authors":"Lijie Ma, Weidong Weng, Jie Chen, Hongdi Wu, Jiajia Liang, Fengbin Lu","doi":"10.1186/s12920-025-02228-y","DOIUrl":"10.1186/s12920-025-02228-y","url":null,"abstract":"<p><strong>Background: </strong>Liver fibrosis is a common pathological process in chronic liver diseases and effective treatments are lacking. The activation of hepatic stellate cells (HSCs) is a critical step in the development of liver fibrosis. Our previous research confirmed that bone marrow mesenchymal stem cell-derived exosomes (BMSC-exosomes) could regulate the level of miR-223-3p to alleviate intrahepatic inflammation, but whether they contribute to the protection of the liver against fibrosis remains unknown.</p><p><strong>Methods: </strong>In this study, the antifibrotic function of BMSC-exosomes was validated through cell experiments. JS-1 cells (murine HSC line) were used as activated cells to simulate liver fibrosis. TGF-β is a stimulating factor for JS-1 cell activation. BMSC-exosomes were isolated via ultracentrifugation.</p><p><strong>Results: </strong>Our results demonstrated that BMSC-exosomes internalized by JS-1 cells attenuated TGF-β-induced HSC activation and promoted HSC apoptosis. Moreover, BMSC-exosomes significantly reversed the upregulation of miR-223-3p levels and mitophagy induced by TGF-β. Luciferase activity reporter analysis further verified that hydroxy-3-methylglutaryl-CoA synthase 1 (HMGCS1) was a downstream target of miR-223-3p. By transfecting a miR-223-3p inhibitor, we found that downregulating miR-223-3p could increase the expression level of HMGCS1 and alleviate mitophagy, thereby reducing TGF-β-induced HSC activation and promoting HSC apoptosis.</p><p><strong>Conclusions: </strong>These results suggest that BMSC-exosomes may have antifibrotic effects. The mechanism may be related to regulating miR-223-3p in HSCs to target HMGCS1 and mitophagy.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"148"},"PeriodicalIF":2.0,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12495687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145224771","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":"An ADR pharmaceutical care for severe gastrointestinal bleeding of rivaroxaban in a patient with nonvalvular atrial fibrillation based on TDM and genetic testing: a case report.","authors":"Youqi Huang, Hongjin Gao, Mingyu Chen, Yuze Lin, Huiting Liu, Min Chen","doi":"10.1186/s12920-025-02222-4","DOIUrl":"10.1186/s12920-025-02222-4","url":null,"abstract":"<p><strong>Background: </strong>Due to its predictable pharmacodynamics and pharmacokinetics, stable blood concentration, and relatively short half-life, rivaroxaban is widely used in the prevention and treatment of thrombosis. It nevertheless exhibits a certain level of inter-individual variability, and its safety concerns, including bleeding, are also becoming more noteworthy.</p><p><strong>Case presentation: </strong>This paper describes an elderly patient with nonvalvular atrial fibrillation that was complicated with coronary heart disease, who is a homozygous mutation carrier of the ABCB1 allele (rs1045642 C > T, rs1128503 C > T, rs2032582 G > T). He was developed severe gastrointestinal bleeding during administration of oral rivaroxaban combined with aspirin. We investigated the possible causes of the bleeding, and any potential correlation with the ABCB1 gene polymorphism, combined with antiplatelet drugs and anemia.</p><p><strong>Conclusion: </strong>In the treatment of patients with atrial fibrillation, doctors should pay close attention to drug interactions with antiplatelet agents in high-risk groups and closely monitor various examination indexes, including hemoglobin. In this case, bleeding might be potentially influenced by homozygous mutations in ABCB1, but more clinical data are needed to clarify the association between ABCB1 polymorphism and rivaroxaban pharmacokinetics and bleeding.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"147"},"PeriodicalIF":2.0,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12495659/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145224814","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}