Clinical and Experimental Medicine最新文献

{"title":"Prevalence of sacroiliitis on magnetic resonance enterography in Crohn's disease and its association with intestinal findings: a monocentric observational cross-sectional study.","authors":"G Amati, G Sandri, A Bertani, D Vaccari, A Pecchi, B Bongiovanni, M Orlandi, G Ciancio, M Pecchini, O Secchi, A Colecchia, P Torricelli, D Giuggioli","doi":"10.1007/s10238-025-01846-1","DOIUrl":"10.1007/s10238-025-01846-1","url":null,"abstract":"<p><p>Magnetic resonance enterography (MRE) is recommended for the assessment of small intestine alterations in Crohn's disease (CD). Sacroiliac joints (SIJs) imaging has a central role in the early diagnosis of sacroiliitis (SI). MRE can evaluate both acute and structural findings of SIJs. We aimed to assess the prevalence of SI detected by MRE in a cohort of CD patients, and the associations of SI with demographic and clinical features and with intestinal MRE findings. Two hundred patients affected by CD (M:F 1:1, median age 49.5 (22.5) years, median CD duration 4.75 (16.2) years) tested with MRE between 2011 and 2023 were selected. They discontinued tumor necrosis factor α inhibitors (TNFαi) at least 3 months before the MRE execution. Most patients had an ileal CD location (65.0%) and a stricturing behavior of disease (50.0%). Thirty-five percent of patients underwent ileocecal resection. One out of ten patients were treated with at least one TNFαi. Active SI, capsulitis, erosions, sclerosis, and ankylosis were present in 10.5%, 0.5%, 2.0%, 2.5%, and 1.5%, respectively. No significant correlations have been evidenced between the presence of SI and demographic and clinical variables. The presence of an asymmetric hyperenhancement of the bowel wall was instead directly associated with the presence of SI (OR 8.61, 95% CI 1.47-50.4, p = 0.017). In this study, subclinical SI is a frequent finding in CD patients being present in one out of ten MRE examination. This phenomenon was significantly associated with asymmetric mural enhancement, a specific CD intestinal lesion at MRE.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"314"},"PeriodicalIF":3.5,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12408789/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144991516","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":"Implementation effects of quality control circle in improving medication adherence of outpatient helicobacter pylori patients.","authors":"Huan Gu, Huadong Jiang","doi":"10.1007/s10238-025-01864-z","DOIUrl":"10.1007/s10238-025-01864-z","url":null,"abstract":"<p><p>To evaluate the implementation effects of problem-solving Quality Control Circle (QCC) activities on medication adherence among outpatient Helicobacter pylori patients. Pharmacists collected data scales, guidance sheets, registration forms, and scoring sheets from outpatient H. pylori patients from January to March 2024. Through brainstorming, factors affecting medication adherence were identified and a series of specific measures were formulated. Implementation was carried out from April to July 2024, and the therapeutic effects of patients before and after implementing the QCC process were evaluated. The total score of patient medication adherence improved from 7.9 to 9.2, with statistically significant results (P < 0.001). The medication compliance rate increased from 57.46% to 87.62%; the adverse reaction incidence decreased from 39 to 11%; the C14 breath test positive rate decreased from 67.2% to 30.65%. All the above results showed statistically significant differences (P < 0.001). Implementing QCC can standardize and improve medication adherence measures for H. pylori patients, which has practical significance for patient treatment outcomes, while also enhancing pharmacists' professional knowledge and skills.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"313"},"PeriodicalIF":3.5,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12405293/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945243","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":"Comprehensive analysis of KRT18 as a novel prognostic biomarker and potential target in lung adenocarcinoma.","authors":"Jiajia Xiao, Zhenpeng Zhu, Fengxu Yan, Zhicong Yang, Dandan Xu, Fan Zhang, Xinsheng Wang","doi":"10.1007/s10238-025-01855-0","DOIUrl":"10.1007/s10238-025-01855-0","url":null,"abstract":"<p><strong>Background: </strong>The expression characteristics of Keratin 18 (KRT18) in lung adenocarcinoma (LUAD) remain incompletely elucidated. This study aims to investigate the expression pattern of KRT18 in LUAD and its prognostic significance.</p><p><strong>Methods: </strong>We analyzed the expression status of KRT18 in LUAD and its association with prognosis. Utilizing the UALCAN and STRING databases, we systematically evaluated the clinical phenotypic parameters of KRT18 and its protein-protein interaction network. Through enrichment analysis, we clarified its biological functions and associated signaling pathways, and simultaneously deciphered the association patterns between the tumor immune infiltration landscape and immune checkpoint molecules.</p><p><strong>Results: </strong>High expression of KRT18 was associated with poor prognosis in LUAD patients and was closely correlated with tumor stage and pathological stage. Functional enrichment analysis revealed that KRT18 was significantly enriched in epithelial cell differentiation and intermediate filament pathways. Immune infiltration analysis showed that the expression of KRT18 was associated with tumor immune cell infiltration and immune checkpoints. Immunohistochemistry further confirmed the high expression of KRT18 in LUAD tissues.</p><p><strong>Conclusion: </strong>Therefore, KRT18 may serve as a biomarker for the prognosis and diagnosis of LUAD and also represents a potential target for immunotherapy.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"312"},"PeriodicalIF":3.5,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401774/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945154","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":"The dual burden of tuberculosis and diabetes mellitus: an epidemiological correlation.","authors":"Salma Bibi, Hayat Khan, Muhammad Salman, Jadoon Khan, Tawaf Ali Shah, Molalign Assefa, Hesham M Hassan","doi":"10.1007/s10238-025-01797-7","DOIUrl":"https://doi.org/10.1007/s10238-025-01797-7","url":null,"abstract":"<p><p>This study examined the association between diabetes mellitus and tuberculosis (TB) in a cohort of 200TB-positive patients, stratified by gender, age, treatment regimen, and comorbidities, including diabetes, acute gastroenteritis, and hypertension, compared to TB patients without additional complications. Clinical parameters-Random Blood Sugar (RBS), C-reactive protein (CRP), and Erythrocyte Sedimentation Rate (ESR)-were assessed at baseline and after four months of anti-TB therapy. The results showed no significant changes in mean RBS or CRP levels post-treatment, but a notable reduction in mean ESR was observed. Age and gender had minimal impact on therapeutic outcomes for RBS, CRP, or ESR, though females exhibited higher ESR values than males. Treatment regimens, whether Myrin P Forte alone or combined with streptomycin, did not significantly alter clinical parameters. However, CRP levels improved in TB patients with comorbidities, such as diabetes, hypertension, or gastroenteritis. A significant prevalence of diabetes (21.42%) was found among TB patients, with higher rates in females and those over 50 years. These findings highlight a notable association between diabetes and TB. However, the minimal effect of anti-TB therapy on clinical parameters suggests that ESR and CRP may not be reliable prognostic markers for TB. The study underscores the need for further large-scale case-control studies and molecular research to better understand the relationship between diabetes and TB, particularly given the high prevalence of diabetes among TB patients.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"308"},"PeriodicalIF":3.5,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945207","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 prognostic genes associated with mitochondrial nuclear genes in gastric cancer.","authors":"Cong Fu, Lin Sun, Xiaoyue Zhou, Tong Zhou, Yanzhi Bi","doi":"10.1007/s10238-025-01844-3","DOIUrl":"https://doi.org/10.1007/s10238-025-01844-3","url":null,"abstract":"<p><p>Mitochondrial-related nuclear genes (MNGs) have shown great importance in cancer diagnosis and prognosis, but their role in gastric cancer (GC) remains unclear. GC-related transcriptome data from the gene expression omnibus and cancer genome atlas databases were analyzed to identify differentially expressed MNGs. A prognostic risk model was constructed through univariate Cox and least absolute shrinkage and selection operator regression, validated by Kaplan-Meier (K-M) survival curve and receiver operating characteristic curve. This was followed by immune infiltration analysis, independent prognostic analysis, functional enrichment analysis, drug sensitivity analysis, drug prediction, molecular docking and construction of regulatory networks. Three prognostic genes (ATP8A2, COX15 and TARS2) were identified. The expression of TARS2 and COX15 was positively correlated with CNV, while ATP8A2 was unaffected. The risk model and nomogram, integrating risk score and clinicopathological factors, exhibited excellent predictive performance. A significant correlation was observed between prognostic genes and differential immune cells, such as T cells, B cells, and NK cells. BMS-754807, Gefitinib, JQ1, Lapatinib, and Sapitinib exhibited significant differences in sensitivity between the high-risk group and the low-risk group. The results of molecular docking showed TP8A2 has stable binding ability with cytosine, COX15 with indomethacin, and TARS2 with bisacodyl. RT-qPCR revealed downregulation of ATP8A2 and upregulation of COX15 and TARS2 in GC samples. MNGs, including ATP8A2, COX15, and TARS2, demonstrated significant associations with immune infiltration, CNV, and prognostic outcomes of GC.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"309"},"PeriodicalIF":3.5,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945266","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":"Clinical characteristics and management of paroxysmal nocturnal hemoglobinuria in the Middle East: a narrative review.","authors":"Mohammed Almakadi, Noura AlHashim, Murtadha Al-Khabori, Hazzaa Alzahrani, Hani Yousif Osman, Mervat Mattar, Ahmed Sabah","doi":"10.1007/s10238-025-01834-5","DOIUrl":"https://doi.org/10.1007/s10238-025-01834-5","url":null,"abstract":"<p><p>Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematological disorder caused by uncontrolled terminal complement activation of blood cells. It is associated with intravascular hemolysis, thromboembolic events, organ damage, impaired quality of life and premature mortality. As there are no PNH registry data from Middle Eastern countries, little is known about its management in the region. This narrative review summarizes available data on the prevalence, characteristics, diagnosis and treatment of PNH in Middle Eastern populations of Arabic origin. A search of PubMed and EMBASE from inception to 31 May 2025 identified 15 relevant publications: five from Saudi Arabia, four from Iran, two from Kuwait, one each from Egypt, Oman, Lebanon, and one reporting a Middle Eastern patient treated in Germany. The estimated incidence rate of PNH in an Omani cohort was 1.9 per 5 million population. Mean and median ages at PNH diagnosis were 38 years (Iranian retrospective review, n = 81) and 22.5 years (Omani case series, n = 10), respectively. Where reported, anemia and fatigue were common presenting symptoms. Few publications reported on treatment with C5 inhibitors, although available data indicate that eculizumab generally improves patients' clinical condition. Uptake and clinical use of ravulizumab in the Middle East remains undocumented. Subject to limitations of the available data, the management approach to PNH in the Middle East appears to be generally consistent with that reported in other regions. However, additional data are required to gain greater insight into the status of PNH and its management in Middle Eastern populations.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"310"},"PeriodicalIF":3.5,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399696/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945102","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":"Integrating multi-omics approaches in acute myeloid leukemia (AML): Advancements and clinical implications.","authors":"Hamed Soleimani Samarkhazan","doi":"10.1007/s10238-025-01858-x","DOIUrl":"https://doi.org/10.1007/s10238-025-01858-x","url":null,"abstract":"<p><p>Acute myeloid leukemia (AML) is a highly heterogeneous and aggressive hematologic malignancy characterized by clonal proliferation of myeloid precursors. Despite significant advancements in genomic profiling and targeted therapies, patient outcomes remain suboptimal due to disease complexity, resistance mechanisms, and high relapse rates. The integration of multi-omics approaches-spanning genomics, epigenomics, transcriptomics, proteomics, and metabolomics-has revolutionized AML research, offering a comprehensive understanding of leukemogenesis, tumor heterogeneity, and therapeutic vulnerabilities. Recent studies leveraging high-throughput sequencing, mass spectrometry, and advanced computational tools have uncovered novel biomarkers, clonal evolution dynamics, and microenvironmental interactions that drive AML progression and resistance. For instance, single-cell multi-omics has revealed chemotherapy-resistant leukemic stem cell populations, while proteogenomic analyses have identified actionable targets such as MCL1 and metabolic dependencies like OXPHOS. Clinically, integrated omics platforms are refining risk stratification, minimal residual disease (MRD) monitoring, and personalized therapy selection. However, challenges such as data integration complexity, cost barriers, and ethical considerations remain. This review highlights the transformative potential of multi-omics in AML, emphasizing recent advancements in technology, biomarker discovery, and therapeutic innovation. By bridging the gap between molecular insights and clinical practice, multi-omics integration promises to redefine AML management, paving the way for precision oncology and improved patient outcomes.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"311"},"PeriodicalIF":3.5,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945258","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":"Elevated expression of transferrin receptor-1 in pancreatic cancer: clinical implications and prognostic significance.","authors":"Li Zhongqing, Shahab Uddin, Zhou Wence","doi":"10.1007/s10238-025-01847-0","DOIUrl":"https://doi.org/10.1007/s10238-025-01847-0","url":null,"abstract":"<p><strong>Purpose: </strong>Many advanced-stage pancreatic cancers are fatal, highlighting the need for solid prognostic indicators. This study evaluates transferrin receptor-1 (TfR1) expression in pancreatic cancer tissues and cell lines for clinical and therapeutic potential.</p><p><strong>Method: </strong>The GuangRe database, which integrates mRNA data from The Cancer Genome Atlas (TCGA) and the Genotype-Tissue Expression (GTEx) project, was used to assess TFRC gene expression in pancreatic cancer and normal tissues. ROC curves and Kaplan-Meier and Log-rank tests were used to evaluate TFRC gene expression's diagnostic and survival efficacy. In vitro Western blotting and immunofluorescence experiments on pancreatic cancer cell lines assessed TfR1 expression. IHC staining was done on tissue samples from 90 patients to determine TfR1's clinical importance.</p><p><strong>Results: </strong>The study found that TFRC mRNA levels were significantly higher in pancreatic cancer tissues compared to nearby normal tissues (P < 0.05), with an AUC of 0.936. We found higher TfR1 protein levels in pancreatic cancer cell lines (P < 0.01) using western blot and immunofluorescence studies. Immunohistochemistry showed that pancreatic cancer tissues expressed 30.1% TfR1 compared to paracancer (11.1%) (P = 0.003). In COX regression analysis, increased TfR1 expression was related with lower overall survival (OS) and progression-free survival (PFS), making it an independent prognostic factor.</p><p><strong>Conclusion: </strong>Higher TfR1 expression is associated with poor pancreatic cancer outcomes, suggesting its potential as a prognostic biomarker and therapeutic target.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"307"},"PeriodicalIF":3.5,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12394385/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945246","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 exercise on immune cell infiltration in muscle tissue: implications for muscle repair and chronic disease.","authors":"Yiping Su, Zhanguo Su","doi":"10.1007/s10238-025-01852-3","DOIUrl":"https://doi.org/10.1007/s10238-025-01852-3","url":null,"abstract":"<p><p>Exercise has long been recognized for its systemic health benefits, including modulation of the immune system. Contemporary scientific inquiry has increasingly turned toward understanding the regulatory effects of exercise on immune cell dynamics within muscle tissue, highlighting their potential role in facilitating tissue repair and modulating chronic disease pathways. Following acute bouts of exercise, especially those involving eccentric or high-intensity contractions, muscle fibers experience micro-damage that triggers a well-orchestrated immune response. This phenomenon entails a coordinated, time-sensitive accumulation of immune effector cells-namely neutrophils, macrophages, and T lymphocytes-within compromised muscle tissue. Through the release of immunoregulatory and regenerative mediators like cytokines and growth factors, these cells actively participate in coordinating tissue repair by eliminating cellular debris and resolving inflammation.Macrophage polarization from a pro-inflammatory (M1) to an anti-inflammatory (M2) phenotype is particularly crucial in coordinating effective muscle repair and preventing fibrosis. However, dysregulation of this immune response, such as persistent inflammation or impaired immune cell transition, can hinder regeneration and contribute to the pathogenesis of chronic conditions like sarcopenia, insulin resistance, and muscular dystrophies. Moreover, in chronic disease states, immune cell infiltration into muscle may become maladaptive, exacerbating tissue damage and metabolic dysfunction.Regular moderate-intensity exercise appears to modulate this immune infiltration in a way that enhances repair mechanisms while reducing chronic inflammation, highlighting a potential therapeutic avenue for managing muscle-related pathologies. In-depth insight into the molecular and cellular crosstalk between physical activity and immune cell regulation in muscle tissue forms the basis for crafting specialized therapeutic strategies aimed at facilitating muscle regeneration and limiting the development of chronic pathological conditions. Through a detailed evaluation of exercise-elicited immune dynamics, this review underscores the dichotomous functions of immune cell infiltration in supporting muscle regeneration and in contributing to strategies for chronic disease prevention and management.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"306"},"PeriodicalIF":3.5,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12391213/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945233","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":"The shared genetic etiology of autoimmune disorders and interstitial lung disease: insights from large-scale genome-wide cross-trait analysis.","authors":"Fang Zhou, Ting Li, Hongyan Hui, Jianlian Gao, Zhichao Xu, Zhijian Deng","doi":"10.1007/s10238-025-01836-3","DOIUrl":"https://doi.org/10.1007/s10238-025-01836-3","url":null,"abstract":"<p><p>Autoimmune diseases often co-occur with interstitial lung disease (ILD), and ILD is associated with patient prognosis. Research has demonstrated a relationship between autoimmune diseases and ILD; however, the genetic basis underlying this connection is frequently overlooked. Linkage disequilibrium score regression and high-definition likelihood methods were applied to large-scale genome-wide association studies summary-level data sets to assess genetic correlations between 17 autoimmune disorders and ILD. Several functional annotations and tissue-specific analyses were performed to determine the influence of pleiotropic genes based on the pleiotropy analysis method under the compound null hypothesis method. Eight autoimmune disorders were revealed sharing genetic mechanisms with ILD. A total of 107 pleiotropic loci were identified at the genome-wide significance level (P < 5 × 10^-8), 18 of which had strong evidence of colocalization. Multiple potential pleiotropic genetic loci were identified, particularly the SMO gene located 7q32.1 locus. Pathway analysis determined in bound by FOXP3, T cell selection, and regulation of immune response. SNP- and gene-level tissue enrichment revealed that pleiotropic mechanisms play a critical role in spleen, whole blood, lung, and EBV-transformed lymphocytes. There are significant genetic correlations and potential causal mechanisms between autoimmune diseases and ILD. The findings of this study provide a deeper understanding of the genetic architecture of autoimmune diseases and ILD.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"305"},"PeriodicalIF":3.5,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12391177/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945236","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}