Pub Date : 2025-09-09DOI: 10.3760/cma.j.cn112144-20250609-00214
L W Chen, L Y Meng
Stomatological education is highly dependent on the development of practical skills. However, traditional teaching models present significant limitations in terms of standardization, cost-control, assessment objectivity, and operational safety. Virtual simulation technology offers a novel solution to these issues and with the integration of virtual simulation technology and artificial intelligence (AI) further advances the field toward more intelligent, personalized, and precise applications in the field. AI has demonstrated a key enabling role in various aspects, including creating high-fidelity virtual teaching content, enhancing clinical simulation realism, implementing intelligent assessment with personalized adaptive learning, and providing smart interaction and guidance. However, its practical application in virtual simulation teaching still faces multiple challenges related to resource investment, faculty training, technological iteration, system usability, and ethical-legal regulations. Looking forward, the continuous advancement of AI and its integration into multimodal teaching systems are expected to play a crucial role in building higher-fidelity immersive learning environments, achieving more intelligent personalized teaching, developing comprehensive clinical competencies, and promoting data-driven educational reform. This review aims to provide a comprehensive overview of the current application status, key enabling pathways, primary challenges, and future prospectives of AI in virtual simulation-based stomatologcial education.
{"title":"[Current status and future perspectives of artificial intelligence in virtual simulation-based stomatological education].","authors":"L W Chen, L Y Meng","doi":"10.3760/cma.j.cn112144-20250609-00214","DOIUrl":"10.3760/cma.j.cn112144-20250609-00214","url":null,"abstract":"<p><p>Stomatological education is highly dependent on the development of practical skills. However, traditional teaching models present significant limitations in terms of standardization, cost-control, assessment objectivity, and operational safety. Virtual simulation technology offers a novel solution to these issues and with the integration of virtual simulation technology and artificial intelligence (AI) further advances the field toward more intelligent, personalized, and precise applications in the field. AI has demonstrated a key enabling role in various aspects, including creating high-fidelity virtual teaching content, enhancing clinical simulation realism, implementing intelligent assessment with personalized adaptive learning, and providing smart interaction and guidance. However, its practical application in virtual simulation teaching still faces multiple challenges related to resource investment, faculty training, technological iteration, system usability, and ethical-legal regulations. Looking forward, the continuous advancement of AI and its integration into multimodal teaching systems are expected to play a crucial role in building higher-fidelity immersive learning environments, achieving more intelligent personalized teaching, developing comprehensive clinical competencies, and promoting data-driven educational reform. This review aims to provide a comprehensive overview of the current application status, key enabling pathways, primary challenges, and future prospectives of AI in virtual simulation-based stomatologcial education.</p>","PeriodicalId":23965,"journal":{"name":"中华口腔医学杂志","volume":"60 9","pages":"1077-1084"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-09DOI: 10.3760/cma.j.cn112144-20250521-00188
J Y Li, Z Y Pan, J Q Liu, J W Dai
Meckel's cartilage (MC) was first delineated in 1820 by the German anatomist Johann Friedrich Meckel the Younger through his examination of human embryos. During early development, MC functions as a supportive structure for the mandible and serves as a template for the subsequent formation of the jaw bones. Ultimately, MC transforms into either skeletal tissue, ligaments, or completely resorbs, integrating with the continuously developing osseous structures. This review elucidates the influence of MC development and degeneration on mandibular morphogenesis, delineating cellular processes and key factors that govern chondrogenic fate determination. The analysis reveals how the alterations of MC affect mandibular and craniofacial development. As a transient cartilaginous structure, investigation into MC may yield valuable insights for understanding oral and craniomaxillofacial pathologies.
1820年,德国解剖学家约翰·弗里德里希·梅克尔(Johann Friedrich Meckel the Younger)通过对人类胚胎的检查,首次描绘了梅克尔软骨(MC)。在早期发育过程中,MC作为下颌骨的支撑结构,并作为随后颌骨形成的模板。最终,MC转化为骨组织、韧带或完全吸收,与不断发育的骨结构结合。本文综述了MC发育和退化对下颌形态发生的影响,描述了决定软骨形成命运的细胞过程和关键因素。分析揭示了MC的改变如何影响下颌和颅面发育。作为一种短暂的软骨结构,MC的研究可以为理解口腔和颅颌面病理提供有价值的见解。
{"title":"[Advances in mechanisms of Meckel's cartilage development and degeneration].","authors":"J Y Li, Z Y Pan, J Q Liu, J W Dai","doi":"10.3760/cma.j.cn112144-20250521-00188","DOIUrl":"10.3760/cma.j.cn112144-20250521-00188","url":null,"abstract":"<p><p>Meckel's cartilage (MC) was first delineated in 1820 by the German anatomist Johann Friedrich Meckel the Younger through his examination of human embryos. During early development, MC functions as a supportive structure for the mandible and serves as a template for the subsequent formation of the jaw bones. Ultimately, MC transforms into either skeletal tissue, ligaments, or completely resorbs, integrating with the continuously developing osseous structures. This review elucidates the influence of MC development and degeneration on mandibular morphogenesis, delineating cellular processes and key factors that govern chondrogenic fate determination. The analysis reveals how the alterations of MC affect mandibular and craniofacial development. As a transient cartilaginous structure, investigation into MC may yield valuable insights for understanding oral and craniomaxillofacial pathologies.</p>","PeriodicalId":23965,"journal":{"name":"中华口腔医学杂志","volume":"60 9","pages":"1060-1070"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-09DOI: 10.3760/cma.j.cn112144-20250314-00083
Y L Zhang, J S Zhong, W J Hu, Y G Xu
The periodontal chart comprehensively and objectively records the periodontal status of each tooth in the entire dentition, which is an important basis and essential for the correct diagnosis of periodontal diseases and treatment plan formulation. This article describes in detail the content and clinical significance of the periodontal chart, the key points of the implementation of the clinical completion of the periodontal chart and the step-by-step training mode. This article, as the fourth chapter in the basic skills training series for periodontal diagnosis and treatment, aims to provide guidance for the standardization of periodontal chart recording and application in the clinic and teaching, so as to promote the standardization of Chinese periodontal diagnosis and treatment and bring it on par with the international advanced level.
{"title":"[Significance and clinical applications of periodontal chart: part Ⅳ of a series on basic training in periodontal diagnosis and treatment].","authors":"Y L Zhang, J S Zhong, W J Hu, Y G Xu","doi":"10.3760/cma.j.cn112144-20250314-00083","DOIUrl":"10.3760/cma.j.cn112144-20250314-00083","url":null,"abstract":"<p><p>The periodontal chart comprehensively and objectively records the periodontal status of each tooth in the entire dentition, which is an important basis and essential for the correct diagnosis of periodontal diseases and treatment plan formulation. This article describes in detail the content and clinical significance of the periodontal chart, the key points of the implementation of the clinical completion of the periodontal chart and the step-by-step training mode. This article, as the fourth chapter in the basic skills training series for periodontal diagnosis and treatment, aims to provide guidance for the standardization of periodontal chart recording and application in the clinic and teaching, so as to promote the standardization of Chinese periodontal diagnosis and treatment and bring it on par with the international advanced level.</p>","PeriodicalId":23965,"journal":{"name":"中华口腔医学杂志","volume":"60 9","pages":"1085-1089"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-09DOI: 10.3760/cma.j.cn112144-20250717-00272
S Yu, H Qiao, X Zhang
Rare diseases have become an issue of public health concern globally. In China, two rare diseases lists have been released officially in 2018 and 2023, respectively. However, due to its importance in research, clinical management , therapeutic drug development and health security, we still need a clear definition of rare diseases in China. Considering the current actual condition of our country and our population size, we would suggest a prevalence of less than 1/10 000 to define a rare disease in China.
{"title":"[Numerical considerations for defining a rare disease in China].","authors":"S Yu, H Qiao, X Zhang","doi":"10.3760/cma.j.cn112144-20250717-00272","DOIUrl":"10.3760/cma.j.cn112144-20250717-00272","url":null,"abstract":"<p><p>Rare diseases have become an issue of public health concern globally. In China, two rare diseases lists have been released officially in 2018 and 2023, respectively. However, due to its importance in research, clinical management , therapeutic drug development and health security, we still need a clear definition of rare diseases in China. Considering the current actual condition of our country and our population size, we would suggest a prevalence of less than 1/10 000 to define a rare disease in China.</p>","PeriodicalId":23965,"journal":{"name":"中华口腔医学杂志","volume":"60 9","pages":"939-942"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-09DOI: 10.3760/cma.j.cn112144-20250318-00091
H Xu, N Zhou, C C Wang, Y J Chen, Y Zhang, X Hong
<p><p><b>Objective:</b> To investigate the prevalence, severity, and influencing factors of chronic periodontitis in patients with type 2 diabetes mellitus (T2DM) in Nanjing. <b>Methods:</b> From June to August 2022, by using a multi-stage stratified cluster random sampling method, a total of 1 477 community-dwelling T2DM patients aged 35 years and older were selected and included from the National Essential Public Health Services Program for T2DM health management. Physical examinations, laboratory tests, and questionnaire surveys were conducted. Study participants were divided into chronic periodontitis group and non-chronic periodontitis group. The chronic periodontitis group was defined as having interproximal clinical attachment loss (CAL) detected at least at two non-adjacent sites, or having buccal/lingual CAL≥3 mm at least at two sites with probing depth (PD)≥3 mm, while excluding CAL caused by non-periodontal reasons. The remaining participants were classified as the non-chronic periodontitis group. In the chronic periodontitis group, patients who had PD≥6 mm at least at two sites with CAL≥5 mm were defined as severe periodontitis, with remaining cases classified as mild-to-moderate periodontitis. <b>Results:</b> The prevalence of chronic periodontitis among T2DM patients was 70.1% (962/1 373), with mild to moderate and severe periodontitis prevalence rates of 62.4% (857/1 373) and 7.6% (105/1 373), respectively. After complex weighted processing, the prevalence of chronic periodontitis in T2DM patients was 67.9%, with mild to moderate and severe periodontitis prevalence rates of 61.2% and 6.7%, respectively. Multivariate logistic regression analysis showed that after adjusting all covariates, compared with mental workers, the risk of chronic periodontitis was significantly higher in retired people (<i>OR=</i>1.78, 95<i>%CI</i>: 1.75-1.81, <i>P<</i>0.001), unemployed/others (<i>OR=</i>2.18, 95<i>%CI</i>: 2.14-2.22, <i>P<</i>0.001), and physical workers (<i>OR=</i>3.80, 95<i>%CI</i>: 3.73-3.87, <i>P<</i>0.001). In terms of blood glucose control status, compared with the group that met both control targets, the risk of chronic periodontitis was significantly higher in the group that met only one target (<i>OR=</i>1.28, 95<i>%CI</i>: 1.27-1.30, <i>P<</i>0.001) and the group that met neither target (<i>OR=</i>3.29, 95<i>%CI</i>: 3.25-3.34) (<i>P<</i>0.001). The results of ordered Logistic regression showed that after adjusting for all covariates, compared with male patients, female patients had a significantly lower risk of progression to severe periodontitis (<i>OR=</i>0.77, 95<i>%CI</i>: 0.76-0.78, <i>P<</i>0.001). In terms of the score of healthy lifestyle, compared with those with a score of 0-2, the risk of progression to severe periodontitis was significantly lower in those with a score of 3 (<i>OR=</i>0.85, 95<i>%CI</i>: 0.84-0.86, <i>P<</i>0.001) and 4 (<i>OR=</i>0.51, 95<i>%CI</i>: 0.50-0.52, <i>P<</i>0.001). In terms of blood gluco
{"title":"[Periodontal health status and associated factors in community-managed patients with type 2 diabetes mellitus in Nanjing].","authors":"H Xu, N Zhou, C C Wang, Y J Chen, Y Zhang, X Hong","doi":"10.3760/cma.j.cn112144-20250318-00091","DOIUrl":"10.3760/cma.j.cn112144-20250318-00091","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the prevalence, severity, and influencing factors of chronic periodontitis in patients with type 2 diabetes mellitus (T2DM) in Nanjing. <b>Methods:</b> From June to August 2022, by using a multi-stage stratified cluster random sampling method, a total of 1 477 community-dwelling T2DM patients aged 35 years and older were selected and included from the National Essential Public Health Services Program for T2DM health management. Physical examinations, laboratory tests, and questionnaire surveys were conducted. Study participants were divided into chronic periodontitis group and non-chronic periodontitis group. The chronic periodontitis group was defined as having interproximal clinical attachment loss (CAL) detected at least at two non-adjacent sites, or having buccal/lingual CAL≥3 mm at least at two sites with probing depth (PD)≥3 mm, while excluding CAL caused by non-periodontal reasons. The remaining participants were classified as the non-chronic periodontitis group. In the chronic periodontitis group, patients who had PD≥6 mm at least at two sites with CAL≥5 mm were defined as severe periodontitis, with remaining cases classified as mild-to-moderate periodontitis. <b>Results:</b> The prevalence of chronic periodontitis among T2DM patients was 70.1% (962/1 373), with mild to moderate and severe periodontitis prevalence rates of 62.4% (857/1 373) and 7.6% (105/1 373), respectively. After complex weighted processing, the prevalence of chronic periodontitis in T2DM patients was 67.9%, with mild to moderate and severe periodontitis prevalence rates of 61.2% and 6.7%, respectively. Multivariate logistic regression analysis showed that after adjusting all covariates, compared with mental workers, the risk of chronic periodontitis was significantly higher in retired people (<i>OR=</i>1.78, 95<i>%CI</i>: 1.75-1.81, <i>P<</i>0.001), unemployed/others (<i>OR=</i>2.18, 95<i>%CI</i>: 2.14-2.22, <i>P<</i>0.001), and physical workers (<i>OR=</i>3.80, 95<i>%CI</i>: 3.73-3.87, <i>P<</i>0.001). In terms of blood glucose control status, compared with the group that met both control targets, the risk of chronic periodontitis was significantly higher in the group that met only one target (<i>OR=</i>1.28, 95<i>%CI</i>: 1.27-1.30, <i>P<</i>0.001) and the group that met neither target (<i>OR=</i>3.29, 95<i>%CI</i>: 3.25-3.34) (<i>P<</i>0.001). The results of ordered Logistic regression showed that after adjusting for all covariates, compared with male patients, female patients had a significantly lower risk of progression to severe periodontitis (<i>OR=</i>0.77, 95<i>%CI</i>: 0.76-0.78, <i>P<</i>0.001). In terms of the score of healthy lifestyle, compared with those with a score of 0-2, the risk of progression to severe periodontitis was significantly lower in those with a score of 3 (<i>OR=</i>0.85, 95<i>%CI</i>: 0.84-0.86, <i>P<</i>0.001) and 4 (<i>OR=</i>0.51, 95<i>%CI</i>: 0.50-0.52, <i>P<</i>0.001). In terms of blood gluco","PeriodicalId":23965,"journal":{"name":"中华口腔医学杂志","volume":"60 9","pages":"997-1007"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-09DOI: 10.3769/cma.j.cn112144-20250605-00206
W Guo, X P Wang, T Y Su, S Q Wei, X Y Pan, X H Duan
Objective: To utilize single-cell RNA sequencing (scRNA-seq) to untangle the temporal expression profiles of molecules associated with congenital tooth agenesis and dental hard tissue formation during mouse molar development, and to construct a comprehensive cell atlas spanning the entire developmental period from E13.5 to P7.5, thereby providing new insights into the molecular mechanisms underlying abnormal tooth development. Methods: scRNA-seq data of murine mandibular molar tooth germs at five developmental stages (E13.5, E14.5, E16.5, P3.5, P7.5) were obtained from the GEO database (accession: GSE189381). The Seurat pipeline was employed for quality control, data normalization, dimensionality reduction, and Harmony-based batch effect correction. Cellular subpopulations were identified through uniform manifold approximation and projection dimensionality reduction, while developmental trajectories were reconstructed using Monocle for pseudotime analysis. Results: scRNA-seq analysis profiling identified 27 distinct cellular clusters, which were annotated into twelve major cell types including epithelial cells, mesenchymal cells, and endothelial cells. Msx1 exhibited a bimodal expression pattern. Pax9 reached its peak at E14.5 and then gradually decreased. Eda had a low expression level with a diffuse distribution. In contrast, Amelx and Enam were barely expressed during the embryonic stage and were activated at P3.5. Dspp was ectopically highly expressed in epithelial cells from P3.5 to P7.5, while Dmp1 was specifically upregulated in mesenchymal cells at P7.5. Conclusions: The temporal expression patterns of key regulatory genes for tooth agenesis (Msx1, Pax9, Eda), ameloblast differentiation (Amelx, Enam), and odontoblast development (Dspp, Dmp1) during mouse molar development. These findings provide a theoretical foundation and potential therapeutic targets for deciphering the molecular mechanisms underlying tooth agenesis and other developmental dental anomalies, paving the way for targeted clinical interventions.
{"title":"[Single-cell sequencing reveals the temporal expression characteristics of key molecules related to tooth agenesis and dental hard tissues in mouse molars].","authors":"W Guo, X P Wang, T Y Su, S Q Wei, X Y Pan, X H Duan","doi":"10.3769/cma.j.cn112144-20250605-00206","DOIUrl":"10.3769/cma.j.cn112144-20250605-00206","url":null,"abstract":"<p><p><b>Objective:</b> To utilize single-cell RNA sequencing (scRNA-seq) to untangle the temporal expression profiles of molecules associated with congenital tooth agenesis and dental hard tissue formation during mouse molar development, and to construct a comprehensive cell atlas spanning the entire developmental period from E13.5 to P7.5, thereby providing new insights into the molecular mechanisms underlying abnormal tooth development. <b>Methods:</b> scRNA-seq data of murine mandibular molar tooth germs at five developmental stages (E13.5, E14.5, E16.5, P3.5, P7.5) were obtained from the GEO database (accession: GSE189381). The Seurat pipeline was employed for quality control, data normalization, dimensionality reduction, and Harmony-based batch effect correction. Cellular subpopulations were identified through uniform manifold approximation and projection dimensionality reduction, while developmental trajectories were reconstructed using Monocle for pseudotime analysis. <b>Results:</b> scRNA-seq analysis profiling identified 27 distinct cellular clusters, which were annotated into twelve major cell types including epithelial cells, mesenchymal cells, and endothelial cells. Msx1 exhibited a bimodal expression pattern. Pax9 reached its peak at E14.5 and then gradually decreased. Eda had a low expression level with a diffuse distribution. In contrast, Amelx and Enam were barely expressed during the embryonic stage and were activated at P3.5. Dspp was ectopically highly expressed in epithelial cells from P3.5 to P7.5, while Dmp1 was specifically upregulated in mesenchymal cells at P7.5. <b>Conclusions:</b> The temporal expression patterns of key regulatory genes for tooth agenesis (Msx1, Pax9, Eda), ameloblast differentiation (Amelx, Enam), and odontoblast development (Dspp, Dmp1) during mouse molar development. These findings provide a theoretical foundation and potential therapeutic targets for deciphering the molecular mechanisms underlying tooth agenesis and other developmental dental anomalies, paving the way for targeted clinical interventions.</p>","PeriodicalId":23965,"journal":{"name":"中华口腔医学杂志","volume":"60 9","pages":"987-996"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-09DOI: 10.3760/cma.j.cn112144-20250506-00169
C X Geng, T T Pu, M Li, H Q Ye, D Tong, D Han
{"title":"[Personalized milled primary denture restoration for a pediatric patient with severe congenital tooth agenesis: a case report].","authors":"C X Geng, T T Pu, M Li, H Q Ye, D Tong, D Han","doi":"10.3760/cma.j.cn112144-20250506-00169","DOIUrl":"10.3760/cma.j.cn112144-20250506-00169","url":null,"abstract":"","PeriodicalId":23965,"journal":{"name":"中华口腔医学杂志","volume":"60 9","pages":"1044-1048"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-09DOI: 10.3760/cma.j.cn112144-20250430-00165
S Lou, C Y Xing, Y C Pan
Objective: To systematically investigate the causal effects of exposure factors on nonsyndromic cleft lip with or without cleft palate (NSCL/P) using a phenome-wide mendelian randomization (MR-PheWAS) framework and identify pleiotropic loci. Methods: This study integrated genome-wide association study (GWAS) data for NSCL/P, including 1 069 cases and 1 724 controls, and systematically evaluated causal associations between exposures and NSCL/P using the MR-PheWAS framework. GWAS summary data for 2 106 Asian population-exposure phenotypes were obtained from the IEU OpenGWAS database. The inverse-variance weighted (IVW) method served as the core causal inference model, supplemented by weighted median and MR-Egger regression to verify the robustness of causal associations. Additionally, multivariable MR analysis was conducted to adjust for confounding effects, alongside sensitivity tests (Cochran's Q and MR-PRESSO). Genetic correlations were analyzed using LD Score regression, and cross-phenotype pleiotropy analysis (PLACO/CPASSOC) was employed to identify shared genetic loci. Pathway enrichment and gene annotation data were integrated to explore potential biological mechanisms. Results: MR analysis identified serum calcium (OR=0.12, P=0.019), high-density lipoprotein (HDL, OR=0.61, P=0.039), and mean corpuscular hemoglobin concentration (MCHC, OR=0.39, P=0.032) as protective factors, whereas serum sodium (OR=21.41, P=0.013) was a risk factor. Furthermore, in subsequent analyses of genetic correlation and genetic overlap, a strong association was observed between serum calcium and NSCL/P. Cross-trait analysis localized pleiotropic loci to 16q24.2 and 3q21.1, involving CASR and CSTA, with significant enrichment in vitamin D response pathways. Conclusions: Numerous environmental exposure factors may have a causal impact on the outcomes of NSCL/P, and metabolic homeostasis (especially calcium signaling) plays a significant role in the pathogenesis of NSCL/P. Further genetic analyses identified potential pleiotropic loci primarily located at 16q24.2 and 3q21.1, involving key genes such as CASR and CSTA, and enriched in vitamin D response pathways. This study highlights the crucial position of genetic-environmental factors in the development of cleft lip and palate.
{"title":"[Phenome-wide mendelian randomization identifies causal exposures for nonsyndromic cleft lip with or without cleft palate].","authors":"S Lou, C Y Xing, Y C Pan","doi":"10.3760/cma.j.cn112144-20250430-00165","DOIUrl":"10.3760/cma.j.cn112144-20250430-00165","url":null,"abstract":"<p><p><b>Objective:</b> To systematically investigate the causal effects of exposure factors on nonsyndromic cleft lip with or without cleft palate (NSCL/P) using a phenome-wide mendelian randomization (MR-PheWAS) framework and identify pleiotropic loci. <b>Methods:</b> This study integrated genome-wide association study (GWAS) data for NSCL/P, including 1 069 cases and 1 724 controls, and systematically evaluated causal associations between exposures and NSCL/P using the MR-PheWAS framework. GWAS summary data for 2 106 Asian population-exposure phenotypes were obtained from the IEU OpenGWAS database. The inverse-variance weighted (IVW) method served as the core causal inference model, supplemented by weighted median and MR-Egger regression to verify the robustness of causal associations. Additionally, multivariable MR analysis was conducted to adjust for confounding effects, alongside sensitivity tests (Cochran's Q and MR-PRESSO). Genetic correlations were analyzed using LD Score regression, and cross-phenotype pleiotropy analysis (PLACO/CPASSOC) was employed to identify shared genetic loci. Pathway enrichment and gene annotation data were integrated to explore potential biological mechanisms. <b>Results:</b> MR analysis identified serum calcium (<i>OR</i>=0.12, <i>P</i>=0.019), high-density lipoprotein (HDL, <i>OR</i>=0.61, <i>P</i>=0.039), and mean corpuscular hemoglobin concentration (MCHC, <i>OR</i>=0.39, <i>P</i>=0.032) as protective factors, whereas serum sodium (<i>OR</i>=21.41, <i>P</i>=0.013) was a risk factor. Furthermore, in subsequent analyses of genetic correlation and genetic overlap, a strong association was observed between serum calcium and NSCL/P. Cross-trait analysis localized pleiotropic loci to 16q24.2 and 3q21.1, involving CASR and CSTA, with significant enrichment in vitamin D response pathways. <b>Conclusions:</b> Numerous environmental exposure factors may have a causal impact on the outcomes of NSCL/P, and metabolic homeostasis (especially calcium signaling) plays a significant role in the pathogenesis of NSCL/P. Further genetic analyses identified potential pleiotropic loci primarily located at 16q24.2 and 3q21.1, involving key genes such as CASR and CSTA, and enriched in vitamin D response pathways. This study highlights the crucial position of genetic-environmental factors in the development of cleft lip and palate.</p>","PeriodicalId":23965,"journal":{"name":"中华口腔医学杂志","volume":"60 9","pages":"971-979"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-09DOI: 10.3760/cma.j.cn112144-20250420-00145
Q Li, C Lu, J Lin
<p><p><b>Objective:</b> To investigate whether <i>Porphyromonas gingivalis</i> (Pg) induces ferroptosis in vascular endothelial cells and predict the Hub genes. <b>Methods:</b> Firstly, human umbilical vein endothelial cells (HUVEC) were stimulated with Pg (W83) for 4 h, and transmission electron microscopy was used to observe ferroptosis-related morphological characteristics. Subsequently, RNA was extracted from HUVEC before and after Pg stimulation for transcriptome sequencing (RNA-seq). Enrichment analysis was performed to determine if differentially expressed genes (DEG) associated with ferroptosis. Ferroptosis-related DEG (Fer-DEG) were identified and then underwent gene ontology (GO) functional annotation, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis, protein-protein interaction (PPI) network construction, and Hub gene prediction. Next, based on RNA-seq results, HUVEC were stimulated with lipopolysaccharide (LPS) for 24 h. Established ferroptosis markers were detected. The indices and detection methods were as follows: cell viability via cell counting kit-8; reactive oxygen species (ROS) by the DCFH-DA probe; Fe²⁺, lipid peroxides (LPO), malondialdehyde (MDA), and reduced/oxidized glutathione ratio (GSH/GSSG) with commercial kits; mitochondrial membrane potential (MMP) using the JC-1 probe; solute carrier family 7 member 11 (SLC7A11), solute carrier family 3 member 2 (SLC3A2), and glutathione peroxidase 4 (GPX4) expressions by Western blotting (WB) and real-time fluorescence quantitative PCR (RT-qPCR). Finally, RT-qPCR was used to validate the expression of predicted Hub genes in HUVEC after 24 h LPS stimulation, including tumor necrosis factor (TNF) or TNF-α, interleukin (IL)-6, and prostaglandin-endoperoxide synthase 2 (PTGS2). <b>Results:</b> The mitochondria exhibited size reduction and cristae loss in Pg-stimulated HUVEC. DEG of HUVEC between the Pg-infected and control groups were enriched in the pathway of ferroptosis, and from which 56 Fer-DEG were identified. GO analysis showed enrichment in in responses to TNF, LPS, biotic stimulus, etc. and KEGG analysis revealed enrichment in TNF, C-type lectin receptor, and IL-17 signaling pathways, etc. In the 56-gene PPI network, TNF, IL-6, and PTGS2 were predicted as Hub genes, which were significantly associated with ferroptosis-related pathways, including unsaturated fatty acid biosynthesis and ROS metabolic process regulation. Compared to the control group [(100.00±1.44)%], LPS significantly reduced HUVEC viability [(66.77±1.80)%], which could be ameliorated by Fer-1 [(84.50±1.47)%] (<i>P<</i>0.05). The ROS fluorescence intensity in the LPS group (1 523.00±250.70) was significantly higher than in the control (328.20±38.68) or LPS+Fer-1 (753.30±67.11) group (all <i>P<</i>0.05). The Fe²⁺, LPO, and MDA levels in the LPS group [(29.83±4.25) μmol/10<sup>6</sup> cells, (3.58±0.24) μmol/gprot, (5.54±0.33) μmol/gprot, respectively] were significantly higher than both
{"title":"[Investigation of the role and mechanism of <i>Porphyromonas gingivalis</i> in inducing ferroptosis in vascular endothelial cells].","authors":"Q Li, C Lu, J Lin","doi":"10.3760/cma.j.cn112144-20250420-00145","DOIUrl":"10.3760/cma.j.cn112144-20250420-00145","url":null,"abstract":"<p><p><b>Objective:</b> To investigate whether <i>Porphyromonas gingivalis</i> (Pg) induces ferroptosis in vascular endothelial cells and predict the Hub genes. <b>Methods:</b> Firstly, human umbilical vein endothelial cells (HUVEC) were stimulated with Pg (W83) for 4 h, and transmission electron microscopy was used to observe ferroptosis-related morphological characteristics. Subsequently, RNA was extracted from HUVEC before and after Pg stimulation for transcriptome sequencing (RNA-seq). Enrichment analysis was performed to determine if differentially expressed genes (DEG) associated with ferroptosis. Ferroptosis-related DEG (Fer-DEG) were identified and then underwent gene ontology (GO) functional annotation, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis, protein-protein interaction (PPI) network construction, and Hub gene prediction. Next, based on RNA-seq results, HUVEC were stimulated with lipopolysaccharide (LPS) for 24 h. Established ferroptosis markers were detected. The indices and detection methods were as follows: cell viability via cell counting kit-8; reactive oxygen species (ROS) by the DCFH-DA probe; Fe²⁺, lipid peroxides (LPO), malondialdehyde (MDA), and reduced/oxidized glutathione ratio (GSH/GSSG) with commercial kits; mitochondrial membrane potential (MMP) using the JC-1 probe; solute carrier family 7 member 11 (SLC7A11), solute carrier family 3 member 2 (SLC3A2), and glutathione peroxidase 4 (GPX4) expressions by Western blotting (WB) and real-time fluorescence quantitative PCR (RT-qPCR). Finally, RT-qPCR was used to validate the expression of predicted Hub genes in HUVEC after 24 h LPS stimulation, including tumor necrosis factor (TNF) or TNF-α, interleukin (IL)-6, and prostaglandin-endoperoxide synthase 2 (PTGS2). <b>Results:</b> The mitochondria exhibited size reduction and cristae loss in Pg-stimulated HUVEC. DEG of HUVEC between the Pg-infected and control groups were enriched in the pathway of ferroptosis, and from which 56 Fer-DEG were identified. GO analysis showed enrichment in in responses to TNF, LPS, biotic stimulus, etc. and KEGG analysis revealed enrichment in TNF, C-type lectin receptor, and IL-17 signaling pathways, etc. In the 56-gene PPI network, TNF, IL-6, and PTGS2 were predicted as Hub genes, which were significantly associated with ferroptosis-related pathways, including unsaturated fatty acid biosynthesis and ROS metabolic process regulation. Compared to the control group [(100.00±1.44)%], LPS significantly reduced HUVEC viability [(66.77±1.80)%], which could be ameliorated by Fer-1 [(84.50±1.47)%] (<i>P<</i>0.05). The ROS fluorescence intensity in the LPS group (1 523.00±250.70) was significantly higher than in the control (328.20±38.68) or LPS+Fer-1 (753.30±67.11) group (all <i>P<</i>0.05). The Fe²⁺, LPO, and MDA levels in the LPS group [(29.83±4.25) μmol/10<sup>6</sup> cells, (3.58±0.24) μmol/gprot, (5.54±0.33) μmol/gprot, respectively] were significantly higher than both","PeriodicalId":23965,"journal":{"name":"中华口腔医学杂志","volume":"60 9","pages":"1008-1018"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-09DOI: 10.3760/cma.j.cn112144-20250701-00240
J Liang, Z Bian
This study provides a comprehensive review of the development and achievements in the field of oral genetic disorders research in China. Since the 1950s, Chinese scholars have progressed from epidemiological surveys to the elucidation of molecular mechanisms and functional genomics, marking a transition from macro-level observations to micro-level analyses. The research focuses on three major categories: cleft lip and palate, dental developmental anomalies, and rare hereditary oral diseases. Several critical pathogenic genes have been identified, and their molecular mechanisms and phenotypic characteristics elucidated. This paper summarizes representative findings, analyzes current challenges, and outlines future research directions, aiming to provide theoretical support for advancing both basic research and clinical translation in the field of oral genetics in China.
{"title":"[Review of oral genetic diseases in China].","authors":"J Liang, Z Bian","doi":"10.3760/cma.j.cn112144-20250701-00240","DOIUrl":"10.3760/cma.j.cn112144-20250701-00240","url":null,"abstract":"<p><p>This study provides a comprehensive review of the development and achievements in the field of oral genetic disorders research in China. Since the 1950s, Chinese scholars have progressed from epidemiological surveys to the elucidation of molecular mechanisms and functional genomics, marking a transition from macro-level observations to micro-level analyses. The research focuses on three major categories: cleft lip and palate, dental developmental anomalies, and rare hereditary oral diseases. Several critical pathogenic genes have been identified, and their molecular mechanisms and phenotypic characteristics elucidated. This paper summarizes representative findings, analyzes current challenges, and outlines future research directions, aiming to provide theoretical support for advancing both basic research and clinical translation in the field of oral genetics in China.</p>","PeriodicalId":23965,"journal":{"name":"中华口腔医学杂志","volume":"60 9","pages":"951-958"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}