BMC Medical Genomics最新文献

{"title":"Development of a prognostic model based on seven mitochondrial autophagy- and ferroptosis-related genes in lung adenocarcinoma.","authors":"Ya-Nan Zhao, Hai-Yang Li, Dan Liu, Kai Feng, Huan Wang, Tian-Wei Liu, Yang Li, Ji-Yun Wang, Bo-Feng Hou","doi":"10.1186/s12920-025-02216-2","DOIUrl":"10.1186/s12920-025-02216-2","url":null,"abstract":"","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"145"},"PeriodicalIF":2.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12487532/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205470","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":"Mono-allelic MUTYH mutation as the likely inherited etiology of hereditary breast cancer in a patient from a multi-cancer family- report of a family and literature review.","authors":"Akram Sarmadi, Shaghayegh Haghjooy Javanmard, Mehrdad Zeinalian, Majid Hosseinzadeh, Mohammad Amin Tabatabaiefar","doi":"10.1186/s12920-025-02213-5","DOIUrl":"10.1186/s12920-025-02213-5","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer (BC) is the most prevalent cancer globally. Carriers of pathogenic variants in high- or moderate-penetrance genes, have an increased risk of developing hereditary BC (HBC). While, MUTYH is known to be associated with hereditary colonic polyposis and colorectal carcinoma, its role in BC is controversial. This study investigated the genetic cause of HBC in an Iranian family with a history of multiple cancer cases.</p><p><strong>Methods: </strong>Clinical examination and exome sequencing (ES) was performed in a patient suffering from invasive ductal carcinoma from a family with several cases of different types of cancer. The pathogenicity of detected variants was done based on American Collage of Medical Genetics (ACMG) and Sanger sequencing was carried out for its validation. Furthermore, we performed a comprehensive review of the literature.</p><p><strong>Results: </strong>Here, a pathogenic variant (p. A287Pfs*32) was identified in the MUTYH gene in mono-allelic status in four BC patients. However, this variant was previously reported as the cause of MutYH-associated polyposis (MAP) in homozygous status. The review of literature showed that the frequency of MUTYH mutation in BC patients population is in a range of 0.3-5.6%.</p><p><strong>Conclusion: </strong>In this study, a heterozygous pathogenic variant in the MUTYH gene was identified as the possible cause of BC in a multi-cancer family using ES. While the potential association between mono-allelic MUTYH mutations and an elevated risk of BC remains controversial, these findings highlight the necessity for a careful interpretation when assessing the role of MUTYH mutations in BC risk.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"146"},"PeriodicalIF":2.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12487069/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205448","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":"Fatty acid metabolism in ischemic stroke: multi-omics biomarker discovery and therapeutic potential of GPR84.","authors":"Jun Wu, Da Wu, Ming Qi, Kuan Jiang","doi":"10.1186/s12920-025-02212-6","DOIUrl":"10.1186/s12920-025-02212-6","url":null,"abstract":"<p><strong>Objective: </strong>Ischemic stroke (IS), a leading cause of global disability and premature mortality, results from cerebral artery occlusion and subsequent ischemic necrosis. Fatty acid metabolism (FAM) plays a crucial role in energy supply and oxidative damage associated with IS, yet reliable biomarkers and targeted therapies remain elusive, necessitating systematic investigation.</p><p><strong>Methods: </strong>We integrated peripheral blood transcriptomes (GSE22255 and GSE58294) to identify FAM-related differentially expressed genes (FRDEGs). Consensus clustering of FRDEG expression classified IS subtypes. Weighted gene co-expression network analysis constructed subtype-specific modules. Biomarkers were screened using generalized linear models, least absolute shrinkage and selection operator, support vector machine, and random forest, validated by an independent cohort (GSE16561) and real-time quantitative PCR (RT-qPCR). A diagnostic nomogram was established, and immune infiltration was assessed. Single-cell RNA sequencing (GSE174574) mapped cellular expression, while Connectivity Map analysis and molecular docking predicted potential drugs.</p><p><strong>Results: </strong>We identified 14 FRDEGs enriched in the tumor necrosis factor, interleukin-17, and nuclear factor-κB pathways. IS patients were classified into two subtypes. VIM, G0S2, and GPR84 emerged as diagnostic biomarkers, with the nomogram demonstrating high efficacy. RT-qPCR validation confirmed their significant upregulation in the peripheral blood of IS patients. Further analysis showed associations with immune infiltration and distinct single-cell expression patterns. Canertinib and flecainide were identified as high-affinity ligands for GPR84.</p><p><strong>Conclusion: </strong>This study highlights the role of FAM in IS, identifies VIM, G0S2, and GPR84 as novel diagnostic biomarkers, and positions GPR84 as a therapeutic target, thereby advancing precision diagnosis and treatment.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"142"},"PeriodicalIF":2.0,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12481990/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145197978","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":"Impact of interaction between IL-21 gene variants and smoking status on susceptibility to rheumatoid arthritis.","authors":"Xiang Lu, Yuan Xue, Shanle Yan","doi":"10.1186/s12920-025-02217-1","DOIUrl":"10.1186/s12920-025-02217-1","url":null,"abstract":"<p><strong>Background: </strong>In recent years, interleukin-21 (IL-21) has been found to be a key player in RA pathogenesis and progression, despite accumulating evidence on rheumatoid arthritis (RA) etiology, the precise contribution of IL-21 gene variants interacting with environmental exposures remains unexplored in population-based studies. Therefore, we performed this study to evaluate the impact of gene single nucleotide polymorphisms (SNPs) and their interaction with environment on RA risk.</p><p><strong>Methods: </strong>In this study, Genomic DNA was extracted from whole blood samples (Invitrogen PureLink™ Genomic DNA Mini Kit), and targeted genotyping of four SNPs (rs2055979, rs12508721, rs2221903 and rs907715) of IL-21 gene was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology. Genotypic relationship testing in this case-control study was performed by using SNPStats online software ( https://www.snpstats.net/ ), odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. The interaction combinations among four SNPs and environmental factors including smoking and alcohol drinking were screened using generalized multifactor dimensionality reduction (GMDR).</p><p><strong>Results: </strong>Logistic regression analysis showed that the risks of RA were significantly higher in carriers with rs2055979- CA genotype (OR = 1.63, 95% CI = 1.28-1.97), rs2055979-AA genotype (OR = 2.02, 95% CI = 1.47-2.59), rs2055979-AA + CA genotype (OR = 1.78, 95% CI = 1.32-2.26), compared to carriers with rs2055979-CC genotype. In allele genetic model, rs2055979-A was also associated with increased RA risk (OR = 1.72, 95% CI = 1.39-2.06). However, we did not find any significant association of rs2221903, rs907715 and rs12508721 with RA risk. The GMDR model found a statistically significant two locus model (P = 0.018), including rs2055979 and smoking, indicating that the interaction between rs2055979 and smoking was significantly associated with the risk of RA. Smokers with rs2055979-AA or CA genotype had the highest risk of RA, compared with non-smokers with rs2055979-CC genotype, OR (95% CI) was 3.23 (1.86-4.64).</p><p><strong>Conclusions: </strong>We found that rs2055979- A allele, gene- environment interaction between rs2055979 and smoking were all correlated with increased RA risk.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"144"},"PeriodicalIF":2.0,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12482331/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145198003","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":"Advanced glycation end-product receptor gene (RAGE) polymorphisms in patients with acute coronary syndrome - a case-control study in the Polish population.","authors":"Klaudia Gutowska, Michał Ambroziak, Jakub Podraza, Monika Puzianowska-Kuźnicka, Krzysztof Czajkowski, Andrzej Budaj, Alina Kuryłowicz","doi":"10.1186/s12920-025-02215-3","DOIUrl":"10.1186/s12920-025-02215-3","url":null,"abstract":"<p><strong>Background: </strong>The development of coronary artery disease (CAD) is the result of complex interactions between environmental and genetic factors. While the former is well known, the genetic factors that predispose individuals to the development of CAD are still under investigation. The aim of our study was to investigate whether single nucleotide polymorphisms (SNPs) in the gene encoding the receptor for advanced glycation end products (RAGE), specifically rs2070600 G/A and rs184003 G/T, may determine predisposition to acute coronary syndrome (ACS) and severity of coronary artery disease (CAD) in the Polish population.</p><p><strong>Methods: </strong>Two RAGE SNPs were genotyped in 336 patients with a history of acute coronary syndrome (ACS): 175 < 50 years, 161 ≥ 50 years, and 160 ethnically, age- and sex-matched controls via the restriction fragment length polymorphism method. Allele frequencies were compared between groups via the chi² test on a 2 × 2 contingency table. Genotype distribution was analyzed assuming three modes of inheritance: dominant, codominant, or recessive. The values of the variables between the study groups were compared using Student's t-test or the Mann-Whitney U test, as appropriate.</p><p><strong>Results: </strong>For the rs184003 G/T polymorphism, the frequency of genotypes containing the T allele (GT + TT) was significantly greater in patients with a history of ACS than in healthy age- and sex-matched controls (28.87% vs. 11.25%, p < 0.0001, OR = 3.2 [95% CI: 1.86-5.52]). Moreover, individuals possessing this allele had lower high-density lipoprotein (HDL) cholesterol levels (mean 1.02 mmol/l vs. 1.14 mmol/l, p = 0.01) and higher median troponin I concentrations at the time of ACS (32.2 ng/ml vs. 24.4 ng/ml, p = 0.04). These genotypes were also significantly less common in patients with ACS before the age of 50 than in those diagnosed later (20.0% vs. 38.5%, p = 0.0002, OR = 0.4 [95%CI: 0.25-0.65]). In the case of rs2070600 G/A polymorphism, the genotype and allele frequencies were not significantly different between the study groups and subgroups.</p><p><strong>Conclusions: </strong>Our findings suggest that the rs184003 SNP in the RAGE gene may play a role in determining genetic susceptibility to CAD and ACS in the Polish population. However, they do not support the hypothesis that the studied SNPs impact the incidence of ACS at a young age.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"143"},"PeriodicalIF":2.0,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12482394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145197995","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":"Exploration and validation of the immune-related genes signatures and potential molecular mechanisms shared between Alzheimer's disease (AD) and Parkinson's disease (PD).","authors":"Kaige Zhou, Jingxing Zhang, Junhui Su, Weifang Tong, Ruoyu Li, Xuerui Xiang, Lingjing Jin, Yunping Song","doi":"10.1186/s12920-025-02219-z","DOIUrl":"10.1186/s12920-025-02219-z","url":null,"abstract":"","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"141"},"PeriodicalIF":2.0,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12481742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145198019","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 and validation of the cellular senescence-associated molecular pattern and diagnostic markers for osteoporosis.","authors":"Tengyan Liu, Jiashuang Fan, Jianyun Fang, Zhuan Qu, Yaxin He, Kai Yang, Jianlin Yang, Juye Zhang, Dan Yang, Lifen Dai","doi":"10.1186/s12920-025-02205-5","DOIUrl":"10.1186/s12920-025-02205-5","url":null,"abstract":"","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"140"},"PeriodicalIF":2.0,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12403493/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144941072","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":"Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.","authors":"Nicholas Demas, Cesar Estrada, Paula Morales, Mitchell Jacobs, John Kitchens, Andrew Pearson, Ramiro Maldonado","doi":"10.1186/s12920-025-02186-5","DOIUrl":"https://doi.org/10.1186/s12920-025-02186-5","url":null,"abstract":"","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"139"},"PeriodicalIF":2.0,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12392666/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144941060","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":"Tracking of multidrug-resistant pathogen clones in Ghana: a systematic review and meta-analysis.","authors":"Alex Odoom, Eric S Donkor","doi":"10.1186/s12920-025-02161-0","DOIUrl":"https://doi.org/10.1186/s12920-025-02161-0","url":null,"abstract":"","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"137"},"PeriodicalIF":2.0,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12382024/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144941029","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 an F8 complex recombination in Chinese hemophilia a patient using long-read sequencing and optical genome mapping.","authors":"Yuxin Zhang, Mingjie Yang, Lulu Yan, Chunxiao Han, Jiangyang Xue, Juan Geng, Changshui Chen, Lijun Bao, Bingqin Xu, Shanshan Wu, Haibo Li","doi":"10.1186/s12920-025-02202-8","DOIUrl":"https://doi.org/10.1186/s12920-025-02202-8","url":null,"abstract":"","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"138"},"PeriodicalIF":2.0,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12382273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144941070","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}