ABSTRACT
BACKGROUND Osteosarcoma is the most frequent primary bone cancer derived from primitive mesenchymal cells. The aim of this study was to explore the molecular mechanism of the development and progression of osteosarcoma. MATERIAL AND METHODS The gene expression profiles of osteosarcoma from 17 specimens (3 normal and 14 osteosarcoma) were downloaded from the GEO database. The differentially expressed genes were identified by use of the Limma package. DAVID and Enrichment Map were used to perform GO and KEGG pathways enrichment analysis and to integrate enrichment results of differentially expressed genes (DEGs). Protein-protein interaction network was constructed and analyzed to screen out the potential regulatory proteins using the STRING online tools. RESULTS A total of 417 DEGs were screened, including 215 up-regulated and 202 down-regulated ones, accounting for 51.56% and 48.4%, respectively. In GO term, a total of 12 up-regulated expression genes were enriched in Cellular Component. The up-regulated DEGs were enriched in 6 KEGG pathways while the down-regulated expression genes were enriched in 2 KEGG pathways. The constructed PPI network was aggregated with 1006 PPI relationships and 238 nodes, accounting for 57.07% of DEGs. We found that CD20, MCM, and CCNB1 (down-regulated) in cell cycle and ECM, ITGA, RTKin (up-regulated) in focal adhesion had important roles in the progression of osteosarcoma. CONCLUSIONS The identified DEGs and their enriched pathways provide references for the exploration of the molecular mechanism of the development and progression of osteosarcoma. Moreover, the key genes (CD20, ECM, and ITGA) may be useful in treatment and diagnosis of osteosarcoma.
Subject(s)
Antigens, CD20/genetics , Bone Neoplasms/genetics , Extracellular Matrix Proteins/genetics , Integrins/genetics , Osteosarcoma/genetics , Biomarkers, Tumor/genetics , Biomarkers, Tumor/metabolism , Bone Neoplasms/diagnosis , Bone Neoplasms/metabolism , Databases, Genetic , Down-Regulation , Extracellular Matrix Proteins/metabolism , Gene Expression Profiling/methods , Humans , Integrins/metabolism , Oligonucleotide Array Sequence Analysis , Osteoporosis/genetics , Osteosarcoma/diagnosis , Osteosarcoma/metabolism , Protein Interaction Maps , Signal Transduction/genetics , Transcription Factors/metabolism , Up-RegulationABSTRACT
BACKGROUND: To investigate the association between single nucleotide polymorphisms (SNPs) of bone morphogenic proteins-4 (BMP-4) gene and the susceptibility of cervical spondylotic myelopathy (CSM) and its outcome after surgical treatment. METHOD: A total of 499 patients with CSM and 602 healthy volunteers were recruited. 425 CSM patients received anterior cervical corpectomy and fusion (ACF) and were follow-up until 12 months. The SNPs of BMP-4 were determined. RESULTS: For 6007C > T polymorphism, the cases had a significant lower prevalence of TT genotype than controls. With the CC genotype as reference, the TT genotype carriages significantly influence the CSM risk. The T allele carriage represented a higher risk for CSM as well. The TT of 6007C>T polymorphisms is also associated with higher chance to gain improvement from ACF surgery. The T allele carriage of 6007C>T had markedly higher chance to have a better post-operative outcome compared with C allele carriage. The genotype and allele distributions of -5826G>A polymorphism did not show positive association with risk and outcome of CSM in this study. CONCLUSION: BMP-4 genetic polymorphisms may be used as a molecular marker for the CSM susceptibility and its postoperative outcome in those underwent surgical treatment.
Subject(s)
Bone Morphogenetic Protein 4/genetics , Polymorphism, Single Nucleotide , Spinal Cord Diseases/genetics , Adult , Alleles , Female , Follow-Up Studies , Gene Frequency , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , Risk Factors , Spinal Cord Diseases/surgeryABSTRACT
An impeded blood flow through the femoral head is incriminated in the etiopathogenesis of osteonecrosis of the femoral head (ONFH). Vascular endothelial growth factor (VEGF) is a strong angiogenic protein and also plays a role in the formation of cartilage and bone. The aim of this study was to evaluate the association of VEGF -634G/C polymorphism with ONFH in a Chinese population. A total of 220 unrelated patients with nontraumatic ONFH and 220 unrelated control subjects were consecutively enrolled in a hospital-based case-control study. A polymerase chain reaction-restriction fragment length polymorphism analysis was used to detect the VEGF -634G/C genotype. Patients with ONFH had a significantly higher frequency of the CC genotype (odds ratio=1.64, 95% confidence interval=1.03, 2.60; p=0.04) than controls. There were no significant associations between any genotypes and the cause of ONFH. Our results support the hypothesis that the VEGF -634CC genotype is a risk factor of ONFH in the Chinese population. However, current results should be validated prospectively in larger cohorts.
Subject(s)
Femur Head Necrosis/genetics , Polymorphism, Restriction Fragment Length , Vascular Endothelial Growth Factor A/genetics , Adult , Asian People , Blood Flow Velocity , China/epidemiology , Female , Femur Head/blood supply , Femur Head/metabolism , Femur Head Necrosis/epidemiology , Femur Head Necrosis/metabolism , Humans , Male , Middle Aged , Risk Factors , Vascular Endothelial Growth Factor A/metabolismABSTRACT
Catechol-O-methyltransferase (COMT) is an estrogen degrading enzyme. The COMT Val158Met polymorphism is associated with bone mineral density. The aim of this study was to investigate associations between COMT Val158Met and osteoporotic fractures in Chinese Han patients. Case-control study of 320 patients with osteoporotic fractures and 320 healthy controls were conducted. The COMT Val158Met polymorphism was analyzed by polymerase chain reaction-restriction fragment length polymorphism assay. Patients with osteoporotic fracture had a significantly lower frequency of Val/Val genotype [odds ratio (OR) = 0.62, 95% confidence interval (CI) 0.39-0.99, P = 0.04] than controls. When stratified by the fracture type, there was a significantly lower frequency of Val/Val genotype in patients with vertebral fracture (OR = 0.58, 95% CI 0.36-0.94, P = 0.03) than controls. There was no significant difference in the distribution of each genotype between patients with hip fracture and the control group. Our findings suggest that COMT Val/Val genotype was associated with a lower risk of osteoporotic fracture in Chinese population, especially to vertebral fracture.
Subject(s)
Catechol O-Methyltransferase/genetics , Genetic Predisposition to Disease/genetics , Osteoporotic Fractures/enzymology , Osteoporotic Fractures/epidemiology , Polymorphism, Genetic/genetics , Analysis of Variance , Asian People/genetics , Case-Control Studies , China/epidemiology , Genetic Association Studies , Genotype , Humans , Odds Ratio , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Risk FactorsABSTRACT
A novel multilayer film was assembled from water-soluble poly(4-carboxyphenyl)acetylene sodium salt (PCPA) and diazoresin (DR) in aqueous solution via electrostatic attraction. Under UV irradiation, following the decomposition of the diazonium group between the adjacent interfaces of the multilayers, the ionic bonds of the self-assembled film convert to covalent bonds and the film becomes very stable toward electrolyte aqueous solutions. Thus, the photoelectric conversion property of PCPA-containing film can be measured in a conventional three-electrode photoelectrochemical cell, and 0.5 mol/l KCl solution can be used as the supporting electrolyte. The photocurrent spectroscopy response coincides with the absorption spectrum of the irradiated self-assembled film, which indicates that the irradiated DR/PCPA film is responsible for the photocurrent generation.
