International Journal of Medical Sciences最新文献

{"title":"Risk of New-Onset Hidradenitis Suppurativa in People with Polycystic Ovary Syndrome: a large-scale propensity-score-matched cohort study.","authors":"Shuo-Yan Gau, Chia-Chi Chang, Wei-Ting Hsu, Yen-Ju Chu, Yu-Chiao Ku, Hao Lin, Shiu-Jau Chen, Hui-Chin Chang","doi":"10.7150/ijms.110774","DOIUrl":"10.7150/ijms.110774","url":null,"abstract":"<p><p><b>Background:</b> Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease, while polycystic ovary syndrome (PCOS) is an endocrine disorder. Both conditions share common risk factors, such as androgen excess and obesity. This study aimed to investigate the association between PCOS and the risk of developing HS. <b>Method:</b> A retrospective cohort study was conducted using data from the TriNetX research network, focusing on female patients aged over 18 with PCOS. A control group without PCOS was matched based on age, race, and body mass index using propensity score matching. Hazard ratios (HRs) were calculated to evaluate the risk of HS in PCOS patients across various models. <b>Results:</b> After matching, 141,661 PCOS patients and an equal number of controls were analyzed. PCOS patients showed a significantly increased risk of developing HS (HR: 2.061, 95% confidence interval (CI): 1.910-2.225). The risk remained elevated across different models and sensitivity analyses. Stratified analyses revealed the highest HS risk in younger women (aged 18-39; HR: 2.103, 95% CI: 1.911,2.315), those with a BMI less than 30 (HR: 2.053, 95% CI: 1.761,2.393) and those without diabetes (HR: 1.814, 95% CI: 1.657,1.986). <b>Conclusion:</b> PCOS patients are at a significantly higher risk of developing HS, particularly among younger and more severely affected individuals. Clinical awareness and early detection are essential for managing inflammatory comorbidities in PCOS patients.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 10","pages":"2269-2276"},"PeriodicalIF":3.2,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12080565/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093506","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":"The Uric Acid to Albumin Ratio Predicts All-cause and Cardiovascular Mortality Among U.S. Adults Results from the National Health and Nutrition Examination Survey in 2003-2018.","authors":"Guangyu Wang, Guangyu Li, Pengfei Wang, Minhua Zang, Jun Pu","doi":"10.7150/ijms.106664","DOIUrl":"10.7150/ijms.106664","url":null,"abstract":"<p><p><b>Background:</b> The association between the uric acid to albumin ratio (UAR) and mortality in the general population remains poorly understood. This study aimed to investigate the associations of UAR with all-cause and cardiovascular mortality among American adults. <b>Methods:</b> The study population comprised 19190 U.S. adults from the National Health and Nutrition Examination Survey (NHANES) conducted between 2003 and 2018. Mortality outcomes were ascertained through linkage to National Death Index (NDI) records, with follow-up extending to December 31, 2019. Multivariate Cox proportional hazards regression models with restricted cubic splines and trend analyses were utilized to assess the association between UAR and both all-cause and cardiovascular mortality. Subgroup analyses were conducted to assess whether the association between UAR and mortality varied across different demographic and clinical groups. <b>Results:</b> During a median follow-up period of 98 months, 2296 all-cause deaths were recorded, including 597 deaths related to cardiovascular disease (CVD). After multivariable adjustment, no linear trends were observed between UAR and either all-cause or CVD mortality. Kaplan-Meier curves revealed a significant increase in both all-cause and CVD mortality with associated with higher UAR levels (p for log-rank test < 0.001 for both). Restricted cubic spline models indicated a J-shaped nonlinear association between UAR and both all-cause and CVD mortality, with inflection points at UAR levels of 1.40 for all-cause mortality and 1.88 for CVD mortality. Specifically, UAR values exceeding these inflection points were positively associated with mortality (HR 2.11, 95% CI = 1.74-2.55 for all-cause mortality; HR 5.21, 95% CI = 3.06-8.87 for CVD mortality). Conversely, UAR values below the inflection points were inversely associated with all-cause mortality (HR 0.68, 95% CI = 0.50-0.93) but not significantly associated with CVD mortality (HR 1.07, 95% CI = 0.73-1.58). This association remained consistent across subgroup analyses stratified by sex, age, race, diabetes, hypertension, BMI, and smoking status, with no significant interactions between these characteristics and UAR (p for interaction > 0.05). <b>Conclusion:</b> This study identified a significant association between the UAR and both all-cause and CVD mortality in the general population. A J-shaped nonlinear association was observed, with inflection points at UAR levels of 1.40 for all-cause mortality and 1.88 for CVD mortality.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 10","pages":"2277-2288"},"PeriodicalIF":3.2,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12080566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093671","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":"Risk of Sleep Disorders among Patients with Tourette Syndrome: A Population-Based Cohort Study in Taiwan.","authors":"Ning-Jen Chung, Yung-Rung Lai, Yih Yang, Shuo-Yan Gau, Shiang-Wen Huang, Tung-Han Tsai, Kuang-Hua Huang, Chien-Ying Lee","doi":"10.7150/ijms.107983","DOIUrl":"https://doi.org/10.7150/ijms.107983","url":null,"abstract":"<p><p><b>Background:</b> Tourette syndrome (TS) is a complex neurodevelopmental disorder often linked with various neuropsychiatric comorbidities. This population-based cohort study examined the association between TS and sleep disorders. <b>Materials and methods:</b> Utilizing data from a nationwide database, this retrospective cohort study assessed the risk of sleep disorders in patients with TS. We enrolled 13,646 patients with new-onset TS from 2002 to 2015, each matched with four controls by age, sex, insured salary, urbanization level, Charlson comorbidity index, and year of inclusion. Follow-up continued until the development of sleep disorders, death, or the end of 2018. The risk was evaluated using a Cox proportional hazards model, with sensitivity analyses at ≤1, 1-5, and >5 years. <b>Results:</b> After adjusting for several variables, patients with TS had a higher risk of sleep disorders (adjusted hazard ratio [aHR] = 1.76, 95% confidence interval [CI] = 1.58-1.96). Those aged over 18 years had a higher risk than those under 7 years (aHR = 7.76, 95% CI = 6.32-9.53). Patients with comorbid attention deficit hyperactivity disorder (ADHD) and anxiety also showed increased risks (aHR = 1.35, 95% CI = 1.09-1.67 and aHR = 2.33, 95% CI = 1.88-2.88, respectively). Sensitivity analyses confirmed a higher risk of sleep disorders in TS patients at <1-, 1-5-, and >5-year follow-up periods. <b>Conclusion:</b> TS is a significant risk factor for sleep disorders. Patients with comorbid ADHD and anxiety are particularly at higher risk for sleep disturbances.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 9","pages":"2247-2256"},"PeriodicalIF":3.2,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965564","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":"Ellagic acid suppresses the human renal carcinoma cell migration and invasion by targeting the RUNX2/MMP1 expression.","authors":"Po-Yu Huang, Tung-Wei Hung, Yi-Hsien Hsieh, Pei-Jen Wu, Pei-Ni Chen, Chu-Che Lee, Jen-Pi Tsai","doi":"10.7150/ijms.112117","DOIUrl":"10.7150/ijms.112117","url":null,"abstract":"<p><p>Ellagic acid (EA) exerts anti-carcinogenic activity in various types of cancer. Matrix metalloproteinases (MMPs) are critical mediators in the pathogenesis of renal cell carcinoma (RCC) metastasis. Using <i>in vitro</i> experiments, this study aims to investigate the mechanisms by which EA inhibits RCC migration and invasion. The findings show that EA treatment inhibited RCC cell migration and invasion without reducing cell viability in normal human kidney cells (HK2 cells) and RCC cells (786-O and ACHN). A human proteinase array showed that EA treatment decreased MMP1 mRNA and protein expression levels in 786-O and ACHN cell lines. MMP1 expression is elevated in RCC tissues and correlates with tumor grade, stage, and overall survival in RCC patients. Our molecular docking model indicates a strong interaction between EA and MMP1. The addition of recombinant human MMP1 (Rh-MMP1) to RCC cells increased their migration and invasion; co-treatment with Rh-MMP1 and EA effectively reversed these effects. EA reduced the expression of the transcription factor RUNX2 in both RCC cell lines and knockdown of RUNX2 significantly decreased the migration and invasion abilities of EA-treated 786-O cells. High expression of RUNX2 in RCC patients is associated with higher tumor grade, stage, and poorer survival and correlates positively with MMP1 expression level. These results suggest that EA suppresses RUNX2 targeting of MMP1 expression, thereby conferring anti-invasive properties on RCC cells.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 10","pages":"2308-2317"},"PeriodicalIF":3.2,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12080572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093550","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":"Establishing a Risk Prediction Model for Nasopharyngeal Carcinoma Based on Anti-BNLF2b Serological Biomarkers: A Retrospective Study.","authors":"Hengrong Shao, Mengting Chen, Yufei Xiao, Li Xu, Huaquan Cao, Bo Hong, Yun Qian","doi":"10.7150/ijms.110758","DOIUrl":"https://doi.org/10.7150/ijms.110758","url":null,"abstract":"<p><p><b>Purpose:</b> This study aims to establish a suitable risk prediction model of NPC in regions with relatively low-incidence in southern China. <b>Methods:</b> We retrospectively analysed the data of 198 patients with NPC and 398 healthy individuals admitted to The Second Affiliated Hospital, Zhejiang University School of Medicine, from February 2023 to October 2024. The levels of different serum biomarkers (P85-Ab, VCA-IgA, VCA-IgM, VCA-IgG, Rta-IgG and EA-IgA) were compared between patients with NPC and healthy individuals. Binary logistic regression was used to construct a risk prediction model for NPC, and ROC curves were plotted to evaluate the performance of the model. <b>Results:</b> Compared with healthy individuals, patients with NPC exhibited significantly elevated levels of EA-IgA (P < 0.001), Rta-IgG (P < 0.001), P85-Ab (P < 0.001) and VCA-IgA (χ² = 262.25; P < 0.001). Binary logistic regression showed that P85-Ab (HR = 572.225; P < 0.001), VCA-IgA (HR = 31.877; P < 0.001) and Rta-IgG (HR = 10.670; P = 0.004) were independent risk factors for NPC. The AUC of P85-Ab combined with Rta-IgG and VCA-IgA for predicting the risk of NPC was 0.977 (95% CI: 0.959-0.988), which was greater than the AUC values of Rta-IgG and VCA-IgA (P < 0.01 for all). The combination of P85-Ab with Rta-IgG and VCA-IgA had a sensitivity of 91.36% and a specificity of 99.25%. <b>Conclusion:</b> P85-Ab combined with VCA-IgA and Rta-IgG is an optimal serological biomarker for the diagnosis of NPC in low-incidence regions in southern China.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 9","pages":"2165-2173"},"PeriodicalIF":3.2,"publicationDate":"2025-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035835/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144021834","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":"Analysis of the Relationship Between <i>NF-κB1</i> and Cytokine Gene Expression in Hematological Malignancy: Leveraging Explained Artificial Intelligence and Machine Learning for Small Dataset Insights.","authors":"Jae-Seung Jeong, Hyunsu Ju, Chi-Hyun Cho","doi":"10.7150/ijms.109493","DOIUrl":"https://doi.org/10.7150/ijms.109493","url":null,"abstract":"<p><p>This study measures expression of <i>nuclear factor kappa B</i> (<i>NF-κB</i>)<i>1</i> and related cytokine genes in bone marrow mononuclear cells in patients with hematological malignancies, analyzing the relationship between them with an integrated framework of statistical analyses, machine learning (ML), and explainable artificial intelligence (XAI). While traditional dimensionality reduction techniques-such as principal component analysis, linear discriminant analysis, and t-distributed stochastic neighbor embedding-showed limited differentiation embedding, ML classifiers (k-Nearest Neighbors, Naïve Bayes Classifier, Random Forest, and XGBoost) successfully identified critical patterns. Notably, normalized caspase-1 counts consistently emerged as the most influential feature associated with NF-κB1 activity across disease groups, as highlighted by SHapley Additive exPlanations analyses. Systematic evaluation of ML performance on small datasets revealed that a minimum sample size of 15-24 is necessary for reliable classification outcomes, particularly in cohorts of acute myeloid leukemia and myelodysplastic syndrome. These findings underscore the pivotal role of caspase-1 to the NF-κB1 gene expression in hematologic malignancy diseases. Furthermore, this study demonstrates the feasibility of leveraging ML and XAI to derive meaningful insights from limited data, offering a robust strategy for biomarker discovery and precision medicine in rare hematological malignancies.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 9","pages":"2208-2226"},"PeriodicalIF":3.2,"publicationDate":"2025-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035828/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995830","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":"Early Hyperbaric Oxygen Therapy Promotes Recovery of Blunt Liver Injury in Rats via Inhibiting Inflammatory Response and Oxidative Stress.","authors":"Houyu Zhao, Tingting Zhang, Yan Wang, Yiqun Fang","doi":"10.7150/ijms.109842","DOIUrl":"https://doi.org/10.7150/ijms.109842","url":null,"abstract":"<p><p><b>Purpose:</b> Blunt Liver Injury (BLI) is a common form of blunt abdominal trauma, with most cases managed non-surgically in current clinical practice. However, the absence of targeted treatments addressing the pathological changes associated with liver injury can result in prolonged recovery and potential long-term complications. Hyperbaric oxygen therapy (HBOT), known for its anti-inflammatory and antioxidant effects, has shown therapeutic potential in various diseases. This prospective randomized controlled experimental animal trial aimed to evaluate the effect of HBOT on BLI in a rat model. <b>Methods:</b> We established a BLI rat model by employing a free-fall weight method. Following injury, one group received no intervention, while the other was treated with HBOT (2.5 ATA, 60 minutes per session, once daily). Liver tissue and serum samples were collected at multiple time points for histological evaluation (HE staining), apoptosis detection (TUNEL staining), proliferation assessment (Ki67 immunohistochemical staining), and measurements of liver transaminase (ALT, AST), inflammatory markers (IL-1β, IL-6, TNF-α), and oxidative stress indicators (SOD, MDA, GSH). <b>Results:</b> The results indicated that HBOT significantly reduced liver transaminase elevation, pathological damage, and hepatocyte apoptosis while promoting hepatocyte proliferation and accelerating liver function recovery. Mechanistically, HBOT alleviated oxidative stress and inflammatory response, highlighting its therapeutic potential. <b>Conclusion:</b> These findings provide further evidence supporting the application of HBOT in the clinical management of BLI. This study helps advance the clinical approach to BLI by shifting the focus from symptom management to mechanism-based treatment.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 9","pages":"2174-2185"},"PeriodicalIF":3.2,"publicationDate":"2025-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144021896","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":"Harnessing Oncolytic Viruses for Targeted Therapy in Triple-Negative Breast Cancer.","authors":"Shasha Tang, Liyun Yong, Yong Cui, Haibin Li, Evelyne Bischof, Fengfeng Cai","doi":"10.7150/ijms.105683","DOIUrl":"https://doi.org/10.7150/ijms.105683","url":null,"abstract":"<p><p>Breast cancer is the most prevalent malignant tumor among women, with triple-negative breast cancer (TNBC) being one of the most aggressive forms due to its high invasiveness and metastatic potential. Traditional treatments such as endocrine therapy and anti-HER2-targeted therapy are largely ineffective for TNBC, and while chemotherapy shows some promise, resistance remains a significant hurdle. Recently, there has been increasing interest in biological therapies, especially oncolytic viruses (OVs). OVs promote anti-tumor effects by selectively killing tumor cells and stimulating immune responses, and have achieved notable breakthroughs in breast cancer treatment. OVs have demonstrated effectiveness comparable to surgery, radiotherapy, or chemotherapy in selected cancers, but data are sparse in the context of TNBC. This review provides an overview of recent progress in the application of OVs as a tool for precision TNBC treatment.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 9","pages":"2186-2207"},"PeriodicalIF":3.2,"publicationDate":"2025-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035831/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143999721","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":"Treatable traits identified in Chinese patients hospitalized with AECOPD: A Multicenter Cohort Study.","authors":"Weiwei Meng, Jiankang Wu, Jiayu Wang, Rui Zhao, Sisi Liu, Naishu Xie, Qixuan Huang, Lijun Liu, Yanchao Liang, Huihui Zeng, Yiming Ma, Yan Chen","doi":"10.7150/ijms.111294","DOIUrl":"https://doi.org/10.7150/ijms.111294","url":null,"abstract":"<p><p><b>Background: \"</b>Treatable traits (TTs)\" is a precision medicine strategy for the management of chronic airway diseases. However, data on TTs in hospitalized AECOPD patients are limited. This study aimed to determine the prevalence of TTs in Chinese patients hospitalized with AECOPD and which traits predict future exacerbation risk, and to develop an exacerbation prediction model. <b>Methods:</b> This multicenter, cohort study recruited patients hospitalized with AECOPD from January 2022 to April 2023. Participants underwent a multidimensional assessment to characterize the TTs and were then followed up for one year. Cox regression analyses were used to determine the association between TTs and future exacerbations and develop a prediction model. <b>Results:</b> Finally, 28 TTs, including pulmonary (n=11), extra-pulmonary (n=12) and behavioral/risk factors (n=5) were identified. Five traits were associated with increased risk of future AECOPD readmission, including frequent exacerbations in the past year (adjusted HR: 2.079, 95% CI: 1.246-3.469), O₂ desaturation (adjusted HR: 1.754, 95% CI: 1.001-3.075), eosinophilic airway inflammation (adjusted HR: 1.731, 95% CI: 1.078-2.777), pathogen colonization (adjusted HR: 1.852, 95% CI: 1.147-2.990) and gastroesophageal reflux (adjusted HR: 5.500, 95% CI: 1.923-15.730). Furthermore, one regression model was developed to predict personalized exacerbation risk and showed acceptable performance. <b>Conclusion:</b> TTs can be systematically assessed in Chinese patients hospitalized with AECOPD, some of which are associated with future exacerbation-related readmission.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 9","pages":"2227-2236"},"PeriodicalIF":3.2,"publicationDate":"2025-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035846/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144005340","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 variant rs2243115 of the IL-12/IL-35 pathway contributes to the risk of coronary artery disease.","authors":"Qianwen Chen, Wenjuan Zhang, Tian Xie, Jiangtao Dong, Junxia Zhang, Lingfeng Zha","doi":"10.7150/ijms.102562","DOIUrl":"https://doi.org/10.7150/ijms.102562","url":null,"abstract":"<p><p><b>Background:</b> Coronary artery disease (CAD) involves inflammation. IL-12p35, a common subunit of both IL-12 and IL-35, is encoded by the <i>IL12A</i> gene and is a potential therapeutic target in CAD. We probed into the genetic relationships between <i>IL12A</i> and CAD in a Chinese Han population to provide a novel potential target and a theoretical basis for the anti-inflammatory therapies in CAD. <b>Materials and Methods:</b> In total, 768 patients with CADs and 768 controls were recruited for a case-control association analysis of the functional genetic variant rs2243115 of <i>IL12A</i>. Allelic and genotypic associations between rs2243115 and CAD and its subgroup were assessed by Logistic regression analysis. Additionally, multiple linear regression analysis was performed to explore the association between rs2243115, serum lipid levels and CAD severity. Bioinformatic tools were used to predict the potential function of rs2243115. <b>Results:</b> Our results showed no differences in the allele and genotype frequency distribution of rs2243115 between patients with CAD and controls. The subgroup analysis found no association between rs2243115 and CAD in either male or female groups. Furthermore, rs2243115 was not related to early- or late-onset CAD, or CAD severity. However, we did observe that rs2243115 was negatively related to HDL-c level (<i>P</i>=0.016, <i>β</i> <b>=-</b>0.063) and positively related to LDL-c level (<i>P</i>=0.029, <i>β</i>=0.058). Biological function prediction indicated many functional elements in the rs2243115 region, suggesting that rs2243115 may regulate gene expression in the IL-12/IL-35 pathway. <b>Conclusion:</b> The functional genetic variant, rs2243115, of <i>IL12A</i>, may play a role in CAD by regulating the IL-12/IL-35 pathway and affecting lipid levels and inflammatory responses, thereby providing a potential therapeutic target for CAD.</p>","PeriodicalId":14031,"journal":{"name":"International Journal of Medical Sciences","volume":"22 9","pages":"2155-2164"},"PeriodicalIF":3.2,"publicationDate":"2025-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035836/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143986364","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}