1.Outcome and prognosis of avascular necrosis after talus fracture
Weidong SONG ; Jingsong HONG ; Taibin QIU ; Guangyao WANG ; Shangli LIU ; Yuewen PENG ; Huiyong SHEN
Chinese Journal of Trauma 2010;26(12):1086-1089
Objective To study the incidence and prognosis of avascular necrosis after talus fracture. Methods A retrospective survey was performed in 12 patients ( 13 feet) with talus fractures admitted into hospital from July 2004 to November 2009 to analyze necrosis rate, ankle function recovery and disability rate. According to Hawkin' s classification system, there were two patients with type Ⅰ feet, four with type Ⅱ feet, five with type Ⅲ feet and two with type Ⅳ feet. Results All patients were followed up for average period of 19.6 months (range 11-52 months). Avascular necrosis was detected in eight feet, of which one foot was treated with ankle fusion, one with subtalar arthrodesis and one with bone implantation. The other five feet had good ankle and subtalar function, with no collapse or osteoarthritis. According to Maryland foot score, the result was excellent in eight patients, good in two, fair in one and failure in two, with excellence rate of 77%. Conclusion The incidence of avascular necrosis after talus fracture is related to the location and energy of trauma. However, the function prognosis of the talus shows no correlation with necrosis.
2.Interaction of GNβ3 gene polymorphisms and environmental factors in susceptibility to major depressive disorder
Dong QI ; Xiaohui QIU ; Yanjie YANG ; Jiarun YANG ; Jingsong MA ; Jian ZHANG ; Mingzhe ZHAO ; Lin WANG ; Zhengxue QIAO ; Xiuxian YANG
Chinese Journal of Behavioral Medicine and Brain Science 2017;26(4):289-292
Objective To explore the association between GNβ3 gene and depression,and to investigate the interaction of gene-environment(negative life events and childhood trauma) and potential possible pathogenesis of depression.Methods The sample of peripheral blood was collected from Chinese Northern patients(n=500) and controls(n=500).Snapshot technique was used to detect the genotype frequency and allele frequency of GNβ3 rs5443 polymorphism in cases and controls.The genotype and allele frequencies were analyzed by Chi-square test,the interactions of gene-environment were analyzed by Logistic regression.Results GNβ3 rs5443 genotype and allele frequencies were observed between patients and controls (x2 =20.249,P<0.01;x2 =4.803,P<0.05).There were genotype CC 102 and 158,genotype CT 280 and 217,genotype TT 118 and 125;allele C 484 and 533,allele T 516 and 467 between patients and controls,respectively.Logistic regression analysis showed that the interaction between rs5443 T+ and negative life events was associated with depression (P<0.05,OR=1.957).In addition,individual carrying rs5443T+ genotypes and negative life events could increase risk of depression.Conclusion GNβ3 rs5443 is a possible susceptibility gene of depression.The interaction between rs5443 and negative life events is associated with depression.
3.Association study on interaction effects of 5-HT receptor related genes and suicidal behavior in major depressive disorder
Zhuowen LI ; Jingsong MA ; Dong QI ; Jian ZHANG ; Xiaohui QIU ; Xiuxian YANG ; Zhengxue QIAO ; Lin WANG ; Yanjie YANG
Chinese Journal of Behavioral Medicine and Brain Science 2017;26(7):610-614
Objective To investigate the single nucleotide polymorphisms(SNPs) of 5-HT1BR(rs6298),5-HT2AR(rs6311,rs6313) and 5-HT2BR(rs765458) gene,and their gene-gene interactions on suicidal behavior in major depressive disorder.Methods The blood samples were taken from 281 depression patients with impulsive suicide attempt and 281 age-matched healthy controls from a hospital in Harbin city,Heilongjiang province.The DNA isolated from blood samples and was genotyped using TapMan SNP genotyping probe.χ2 test was used to compare differences in the distribution of gene alleles between cases and controls.Haplotype and linkage disequilibrium(LD) analysis was performed using Haploview 4.0 software.GMDR was used to analyze the gene-gene interaction.Results The rs6313 and rs6311 of the 5-HT2AR gene were in strong linkage disequilibrium (D=0.756,r2=0.375).There was a significant gene-gene interaction of 5-HT1BR (rs6298),5-HT2AR (rs6311,rs6313) and 5-HT2BR(rs765458) on suicidal behavior(P<0.05).In this model,the test accuracy was 0.6182 and CV value was 10/10.Conclusion A haplotype containing rs6311 and rs6313 of 5-HT2AR gene is associated with suicidal behavior.The interaction of 5-HT1BR gene (rs6298),5-HT2AR gene (rs6311,rs6313) and 5-HT2BR gene (rs765458) are associated with depression suicidal behavior.
4.The association between single nucleotide polymorphism analysis of tryptophan hydroxylase isoform gene rs11178997 and depression and suicidal behavior
Yanjie YANG ; Lin WANG ; Jingsong MA ; Xiuxian YANG ; Xiaohui QIU ; Zhengxue QIAO ; Sijia ZHANG ; Na ZHAO ; Jiag SHI ; Nan NING
Chinese Journal of Behavioral Medicine and Brain Science 2012;21(8):684-686
ObjectiveTo explore the relationship between single nucleotide polymorphism analysis of a novel tryptophanhydroxylase isoform(TPH2)gene rs11178997and depression,and suicidal behavior.MethodsThe specimens of peripheral blood were collected from Chinese Northern 300 depression and 300 controis.The amplification of TPH2 gene rs11178997 was executed by realtime-polymerase chain reaction (realtime-PCR),and analyzed by directed sequencing.And the association between the polymorphisms of TPH2 gene and depression and suicidal behavior was analyzed with SPSS 17.0.ResultsThe genotypic frequencies of the SNPs did not deviate from Hardy-Weinberg equilibrium both in patient and control groups (P > 0.05 ).Compared with control group,significant difference of genotypes and alleles of TPH2 gene rs1 1178997 single nucleotide polymorphism had been found in patient group (75.7% vs 39.7%,6.0% vs 1.3%,18.3% vs 1.3% ; P< 0.05 for all),and the AA genotype frequency of rsl 1178997 was significantly higher in patients.Meanwhile there were not significant differences between genotypes of TPH2 gene rs11178997 and suicide behavior in patient group.Suicidal behavior of depression patients in allele genotypes was higher than nonsuicide behavior of depression patients (P >0.05).ConclusionTPH2 gene rs4570625 single nucleotide polymorphisms have association with the susceptibility of depression.
5.Predicting the Prognosis and Immunotherapeutic Response of Triple-Negative Breast Cancer by Constructing a Prognostic Model Based on CD8+T Cell-Related Immune Genes
Li NANI ; Qiu XIAOTING ; Xue JINGSONG ; Yi LIMU ; Chen MULAN ; Huang ZHIJIAN
Biomedical and Environmental Sciences 2024;37(6):581-593
Objective Triple-negative breast cancer(TNBC)poses a significant challenge for treatment efficacy.CD8+T cells,which are pivotal immune cells,can be effectively analyzed for differential gene expression across diverse cell populations owing to rapid advancements in sequencing technology.By leveraging these genes,our objective was to develop a prognostic model that accurately predicts the prognosis of patients with TNBC and their responsiveness to immunotherapy. Methods Sample information and clinical data of TNBC were sourced from The Cancer Genome Atlas and METABRIC databases.In the initial stage,we identified 67 differentially expressed genes associated with immune response in CD8+T cells.Subsequently,we narrowed our focus to three key genes,namely CXCL13,GBP2,and GZMB,which were used to construct a prognostic model.The accuracy of the model was assessed using the validation set data and receiver operating characteristic(ROC)curves.Furthermore,we employed various methods,including Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway,immune infiltration,and correlation analyses with CD274(PD-L1)to explore the model's predictive efficacy in immunotherapeutic responses.Additionally,we investigated the potential underlying biological pathways that contribute to divergent treatment responses. Results We successfully developed a model capable of predicting the prognosis of patients with TNBC.The areas under the curve(AUC)values for the 1-,3-,and 5-year survival predictions were 0.618,0.652,and 0.826,respectively.Employing this risk model,we stratified the samples into high-and low-risk groups.Through KEGG enrichment analysis,we observed that the high-risk group predominantly exhibited enrichment in metabolism-related pathways such as drug and chlorophyll metabolism,whereas the low-risk group demonstrated significant enrichment in cytokine pathways.Furthermore,immune landscape analysis revealed noteworthy variations between(PD-L1)expression and risk scores, Conclusion Our study demonstrates the potential of CXCL13,GBP2,and GZMB as prognostic indicators of clinical outcomes and immunotherapy responses in patients with TNBC.These findings provide valuable insights and novel avenues for developing immunotherapeutic approaches targeting TNBC.
7.Exploring lncRNA Expression Patterns in Patients With Hypertrophied Ligamentum Flavum
Junling CHEN ; Guibin ZHONG ; Manle QIU ; Wei KE ; Jingsong XUE ; Jianwei CHEN
Neurospine 2024;21(1):330-341
Objective:
Hypertrophy ligamentum flavum (LFH) is a common cause of lumbar spinal stenosis, resulting in significant disability and morbidity. Although long noncoding RNAs (lncRNAs) have been associated with various biological processes and disorders, their involvement in LFH remains not fully understood.
Methods:
Human ligamentum flavum samples were analyzed using lncRNA sequencing followed by validation through quantitative real-time polymerase chain reaction. To explore the potential biological functions of differentially expressed lncRNA-associated genes, Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses were performed. We also studied the impact of lncRNA PARD3-AS1 on the progression of LFH in vitro.
Results:
In the LFH tissues when compared to that in the nonhypertrophic ligamentum flavum (LFN) tissues, a total of 1,091 lncRNAs exhibited differential expression, with 645 upregulated and 446 downregulated. Based on GO analysis, the differentially expressed transcripts primarily participated in metabolic processes, organelles, nuclear lumen, cytoplasm, protein binding, nucleic acid binding, and transcription factor activity. Moreover, KEGG pathway analysis indicated that the differentially expressed lncRNAs were associated with the hippo signaling pathway, nucleotide excision repair, and nuclear factor-kappa B signaling pathway. The expression of PARD3-AS1, RP11-430G17.3, RP1-193H18.3, and H19 was confirmed to be consistent with the sequencing analysis. Inhibition of PARD3-AS1 resulted in the suppression of fibrosis in LFH cells, whereas the overexpression of PARD3-AS1 promoted fibrosis in LFH cells in vitro.
Conclusion
This study identified distinct expression patterns of lncRNAs that are linked to LFH, providing insights into its underlying mechanisms and potential prognostic and therapeutic interventions. Notably, PARD3-AS1 appears to play a significant role in the pathophysiology of LFH.
9.Exploring lncRNA Expression Patterns in Patients With Hypertrophied Ligamentum Flavum
Junling CHEN ; Guibin ZHONG ; Manle QIU ; Wei KE ; Jingsong XUE ; Jianwei CHEN
Neurospine 2024;21(1):330-341
Objective:
Hypertrophy ligamentum flavum (LFH) is a common cause of lumbar spinal stenosis, resulting in significant disability and morbidity. Although long noncoding RNAs (lncRNAs) have been associated with various biological processes and disorders, their involvement in LFH remains not fully understood.
Methods:
Human ligamentum flavum samples were analyzed using lncRNA sequencing followed by validation through quantitative real-time polymerase chain reaction. To explore the potential biological functions of differentially expressed lncRNA-associated genes, Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses were performed. We also studied the impact of lncRNA PARD3-AS1 on the progression of LFH in vitro.
Results:
In the LFH tissues when compared to that in the nonhypertrophic ligamentum flavum (LFN) tissues, a total of 1,091 lncRNAs exhibited differential expression, with 645 upregulated and 446 downregulated. Based on GO analysis, the differentially expressed transcripts primarily participated in metabolic processes, organelles, nuclear lumen, cytoplasm, protein binding, nucleic acid binding, and transcription factor activity. Moreover, KEGG pathway analysis indicated that the differentially expressed lncRNAs were associated with the hippo signaling pathway, nucleotide excision repair, and nuclear factor-kappa B signaling pathway. The expression of PARD3-AS1, RP11-430G17.3, RP1-193H18.3, and H19 was confirmed to be consistent with the sequencing analysis. Inhibition of PARD3-AS1 resulted in the suppression of fibrosis in LFH cells, whereas the overexpression of PARD3-AS1 promoted fibrosis in LFH cells in vitro.
Conclusion
This study identified distinct expression patterns of lncRNAs that are linked to LFH, providing insights into its underlying mechanisms and potential prognostic and therapeutic interventions. Notably, PARD3-AS1 appears to play a significant role in the pathophysiology of LFH.