1.Identification of potential biomarkers of proliferative diabetic retinopathy based on proteomics and transcriptomics data
Yeanqi JIN ; Junbin LIU ; Xiang FANG ; Guanrong WU ; Haoxian ZHU ; Xinyu CHEN ; Mengya LIU ; Shuoxin LIAO ; Fangfang LI ; Xueli ZHANG ; Qianli MENG
Recent Advances in Ophthalmology 2025;45(8):622-628
Objective To identify potential biomarkers for proliferative diabetic retinopathy(PDR)using proteomics and transcriptomics data.Methods In this study,the proteomics dataset(PXD046630)and two transcriptomics datasets(GSE60436 and GSE102485)were derived from the aqueous humor samples and fibrovascular membranes of PDR patients,respectively.Differentially expressed genes(DEGs)were identified via R software,specifically the limma and edgeR pack-ages.The shared DEGs between PXD046630 and GSE60436 were analyzed via protein-protein interaction(PPI),Gene On-tology(GO)enrichment,and Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway enrichment analyses.The key DEGs were validated in GSE102485 via receiver operating characteristic(ROC)curve analysis.A quantitative polymerase chain reaction(qPCR)assay was used to confirm the mRNA of these candidate biomarkers in human retinal microvascular endothelial cells(HRMECs)cultured in high glucose and low oxygen conditions.Results A total of 59 shared DEGs and 26 hub genes were identified from the PXD046630 and GSE60436 datasets.KEGG analysis revealed that six pathways,inclu-ding extracellular matrix-receptor interaction,proteoglycans in cancer,and complement and coagulation cascades,were enriched in 12 key DEGs.Fibronectin 1(FN1),tissue inhibitor of metalloproteinase 3(TIMP3),complement factor H(CFH),decorin(DCN),and lipoprotein receptor-related protein-2(LRP2)were identified as potential biomarkers on the basis of their AUC values being greater than 0.900(CI≥95%).The mRNA expression levels of FN1,CFH,and LRP2 were significantly increased in HRMECs cultured in high glucose and low oxygen conditions.Conclusion FN1,CFH,and LRP2 are potential biomarkers for PDR,and further studies are needed to explore their roles and therapeutic potential in PDR.
2.Identification of potential biomarkers of proliferative diabetic retinopathy based on proteomics and transcriptomics data
Yeanqi JIN ; Junbin LIU ; Xiang FANG ; Guanrong WU ; Haoxian ZHU ; Xinyu CHEN ; Mengya LIU ; Shuoxin LIAO ; Fangfang LI ; Xueli ZHANG ; Qianli MENG
Recent Advances in Ophthalmology 2025;45(8):622-628
Objective To identify potential biomarkers for proliferative diabetic retinopathy(PDR)using proteomics and transcriptomics data.Methods In this study,the proteomics dataset(PXD046630)and two transcriptomics datasets(GSE60436 and GSE102485)were derived from the aqueous humor samples and fibrovascular membranes of PDR patients,respectively.Differentially expressed genes(DEGs)were identified via R software,specifically the limma and edgeR pack-ages.The shared DEGs between PXD046630 and GSE60436 were analyzed via protein-protein interaction(PPI),Gene On-tology(GO)enrichment,and Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway enrichment analyses.The key DEGs were validated in GSE102485 via receiver operating characteristic(ROC)curve analysis.A quantitative polymerase chain reaction(qPCR)assay was used to confirm the mRNA of these candidate biomarkers in human retinal microvascular endothelial cells(HRMECs)cultured in high glucose and low oxygen conditions.Results A total of 59 shared DEGs and 26 hub genes were identified from the PXD046630 and GSE60436 datasets.KEGG analysis revealed that six pathways,inclu-ding extracellular matrix-receptor interaction,proteoglycans in cancer,and complement and coagulation cascades,were enriched in 12 key DEGs.Fibronectin 1(FN1),tissue inhibitor of metalloproteinase 3(TIMP3),complement factor H(CFH),decorin(DCN),and lipoprotein receptor-related protein-2(LRP2)were identified as potential biomarkers on the basis of their AUC values being greater than 0.900(CI≥95%).The mRNA expression levels of FN1,CFH,and LRP2 were significantly increased in HRMECs cultured in high glucose and low oxygen conditions.Conclusion FN1,CFH,and LRP2 are potential biomarkers for PDR,and further studies are needed to explore their roles and therapeutic potential in PDR.
3.Evidence and acupoint combinations in acupuncture for functional dyspepsia: an overview of systematic review and data mining study
ZOU Menglong LIU ; HU Zhuoyu FANG ; LONG  ; Dan HE ; SUN Haoxian LI ; ZHU Ying ZHOU
Digital Chinese Medicine 2023;6(4):369-380
Objective:
To evaluate the methodological quality of papers that performed meta-analyzed and systematically reviewed acupoint selections for the treatment of functional dyspepsia (FD) and to identify the ideal acupoint combinations for FD.
Methods:
Chinese databases including China National Knowledge Infrastructure (CNKI), China Science and Technology Journal Database (VIP), China Biology Medicine (CBM), and Wanfang Database, as well as English databases including PubMed, Embase, and Cochrane Library were searched to retrieve papers about meta-analysis and systematic literature reviews on acupuncture for FD. The time span for the paper retrieval was set from the foundation of the databases to April 30, 2022. The Veritas scores of the papers based on their publication year, study type, Assessment of Multiple Systematic Reviews 2 (AMSTAR2), Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), heterogeneity, and publication bias were rated to assess the methodological quality of the included studies. Then, randomized controlled trials (RCTs) were extracted from those meta-analysis papers or systematic literature reviews for analyzing acupoints frequency, meridian frequency, and association rules with the use of R software (V 4.3.1).
Results:
Eight meta-analysis papers were included in the study after screening. The mean Veritas scores of the papers based on publication year, type of study, AMSTAR2, PRISMA, heterogeneity, and publication bias were 4.50, 8.00, 4.63, 4.63, 4.50, and 6.13, respectively. The analysis of the scores revealed insufficiencies in the reviews pertaining to the methodology, comprehension of the research strategy, detailed list of excluded studies, sources of funding, assessment of potential bias risks impact on meta-analysis results in each study, explanation of heterogeneity, and identification of potential conflicts of interest. Furthermore, a total of 85 RCTs were obtained from the eight meta-analysis papers involving 85 acupuncture prescriptions and 67 acupoints for subsequent data mining. The most commonly used meridian was Stomach meridian of Foot-Yangming (ST). Zusanli (ST36), Neiguan (PC6), Zhongwan (CV12), Taichong (LR3), Tianshu (ST25), Gongsun (SP4), Weishu (BL21), Pishu (BL20), Neiting (ST44), and Yinlingquan (SP9) topped the list of frequently selected acupoints. Additionally, a total of 28 association rules were identified, including 10 second-order, 15 third-order, and 3 fourth-order association rules. The top-ranking association rules in each order were “Neiguan (PC6) → Zusanli (ST36)” “Zhongwan (CV12) + Neiguan (PC6) → Zusanli (ST36)” and “Zhongwan (CV12) + Taichong (LR3) + Neiguan (PC6) → Zusanli (ST36)”, respectively.
Conclusion
Acupuncture could alleviate the clinical symptoms of FD. However, the quality of methodology applied in the meta-analysis papers on the subject needs to be improved. Through data mining, a combination of Neiguan (PC6), Zusanli (ST36), Zhongwan (CV12), and Taichong (LR3) was identified as an essential acupoint combination for the treatment of FD.
4.Chinese Medicine Intervention in Ulcerative Colitis Based on Nrf2/HO-1 Pathway: A Review
Haoxian SUN ; Guixiang SUN ; Liting QIU ; Qianxu ZHANG ; Chaoqun XIE ; Ying ZHU
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(11):224-230
Ulcerative colitis (UC) is a common chronic digestive system disease in clinic. The disease is repeated and difficult to treat, and the pathogenesis is complex, which is related to oxidative stress response. Nuclear factor E2-related factor 2 (Nrf2) is an important factor in antioxidant reaction, which regulates the expression of downstream heme oxygen-1 (HO-1), and plays a role in maintaining redox homeostasis. In the course of UC, the biological activity and content of Nrf2 and HO-1 are decreased, the antioxidant and anti-inflammatory abilities of tissues are weakened, the intestinal epithelial cells are damaged, and the intestinal mucosal barrier is destroyed. At present, western medicine mainly focuses on controlling inflammation and alleviating symptoms in clinical treatment. Although it has a certain effect, there are many problems such as easy recurrence after drug withdrawal and long-term side effects. Studies have shown that Chinese medicine has rich and flexible therapeutic methods and has broad application prospects in the prevention and treatment of UC. In recent years, with Nrf2/HO-1 pathway as the entry point, a large number of basic and clinical experiments on this signal in UC have been carried out in the field of Chinese medicine, and the results show that the intervention of Nrf2/HO-1 pathway is an important potential target for the treatment of UC by Chinese medicines. Based on the etiology and pathogenesis of deficiency-excess in complexity, Chinese medicine regulates Nrf2/HO-1 pathway by clearing heat and detoxifying dampness, activating blood circulation to remove stasis and relieve pain, invigorating Qi, tonifying middle, and warming interior, and treating both symptoms and root causes, to improve the tissue's ability to resist oxidative stress, maintain the balance between pro-inflammatory factors and anti-inflammatory factors, relieve inflammatory response, and play a therapeutic role in UC. This paper summarized and analyzed the effect of Chinese medicine targeting the Nrf2/HO-1 signaling pathway on interfering with UC and its mechanism. The purpose of this study is to provide references for researchers to have a more comprehensive understanding of the mechanism of Chinese medicines in the Nrf2/HO-1 signaling pathway in UC and promote the rational application of Chinese medicines in the prevention and treatment of UC in the future.
5.Huangqintang in Treatment of Ulcerative Colitis: A Review
Haoxian SUN ; Guixiang SUN ; Ying ZHU
Chinese Journal of Experimental Traditional Medical Formulae 2022;28(23):219-227
Huangqintang comes from Treatise on Cold Damage Diseases (《伤寒论》) and is regarded as the traditional prescription for treating dysentery. It is composed of four herbs: Radix Scutellariae, Radix Paeoniae Alba, Fructus Jujubae and Radix Glycyrrhizae, with the effect of clearing heat and stopping dysentery, and is a classic prescription for clinical treatment of ulcerative colitis (UC). Both experimental research and clinical practice show Huangqintang has the characteristics of multiple pathways and multiple targets in treating UC. At present, research on the mechanism of Huangqintang in the treatment of UC mainly focuses on reducing intestinal inflammation, repairing epithelial cell barrier, improving microflora disorder, maintaining immune balance, relieving oxidative stress, regulating mitochondrial autophagy, and inhibiting cell pyroptosis and ferroptosis. In clinical application, Huangqintang and its modified prescription combined with conventional western medicine have a clear effect on UC, which can significantly alleviate abdominal pain, diarrhea, purulent bloody stool and other symptoms, effectively control the condition and improve the quality of life of patients, with few adverse reactions and high safety. However, the experimental methods and research programs of Huangqintang in treating UC need to be further improved, and the related mechanisms need to be further studied. Through retrieval and sorting of relevant literature, this paper systematically summarized and comprehensively analyzed the mechanism and clinical research results of Huangqintang in treating UC in recent years, and proposed suggestions on the shortcomings in order to provide theoretical and data support for the further application of Huangqintang. This had practical guiding significance for interpreting the connotation of Huangqintang and clinical scientific application.
6.Phenotype-genotype correlation analysis of 12 cases with Angelman/Prader-Willi syndrome.
Chen CHEN ; Ying PENG ; Yan XIA ; Haoxian LI ; Huimin ZHU ; Qian PAN ; Fei YIN ; Lingqian WU
Chinese Journal of Medical Genetics 2014;31(6):708-712
OBJECTIVETo investigate the genotype-phenotype correlation in patients with Angelman syndrome/Prader-Willi syndrome (AS/PWS) and assess the application value of high-resolution single nucleotide polymorphism microarrays (SNP array) for such diseases.
METHODSTwelve AS/PWS patients were diagnosed through SNP array, fluorescence in situ hybridization (FISH) and karyotype analysis. Clinical characteristics were analyzed.
RESULTSDeletions ranging from 4.8 Mb to 7.0 Mb on chromosome 15q11.2-13 were detected in 11 patients. Uniparental disomy (UPD) was detected in only 1 patient. Patients with deletions could be divided into 2 groups, including 7 cases with class I and 4 with class II. The two groups however had no significant phenotypic difference. The UPD patient had relatively better development and language ability. Deletions of 6 patients were confirmed by FISH to be of de novo in origin. The risk to their sibs was determined to be less than 1%.
CONCLUSIONThe phenotypic differences between AS/PWS patients with class I and class II deletion need to be further studied. SNP array is useful in detecting and distinguishing of patients with deletion or UPD. This method may be applied for studying the genotype-phenotype association and the mechanism underlying AS/PWS.
Angelman Syndrome ; diagnosis ; genetics ; Child, Preschool ; Chromosome Deletion ; Female ; Genotype ; Humans ; Infant ; Karyotyping ; Male ; Phenotype ; Polymorphism, Single Nucleotide ; Prader-Willi Syndrome ; diagnosis ; genetics

Result Analysis
Print
Save
E-mail