title: Gene expression profiling of craniofacial fibrous dysplasia reveals ADAMTS2 overexpression as a potential marker.
abstract: Fibrous dysplasia (FD) as an abnormal bone growth is one of the common fibro-osseous leasions (FOL) in oral and maxillofacial region, however, its etiology still remains unclear. Here, we performed gene expression profiling of FD using microarray analysis to explore the key molecule events in FD development, and develop potential diagnostic markers or therapeutic targets for FD. We found that 1,881 genes exhibited differential expression with more than two-fold changes in FD compared to normal bone tissues, including 1,200 upregulated genes and 681 downregulated genes. Pathway analysis indicated that obviously activated pathways are Ribosome and ECM-receptor interaction pathways; downregulated pathways are "Hepatitis C" and "cancer" signaling pathways. We further validated the expression of ADAMTS2, one of most differentiated expressed genes, by Immunohistochemistry (IHC) in 40 of FD cases. Results showed that ADAMTS2 was significantly overexpressed in FD tissues, but rarely expressed in normal bone tissues, suggesting that ADAMTS2 could be a potential biomarker for FD. Thus, this study uncovered differentially expressed candidate genes in FD, which provides pilot data for understanding FD pathogenesis, and developing novel biomarkers for diagnosis and targeting of FD.
authors: Department of Oral & Maxillofacial-Head & Neck Oncology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine Shanghai, China.
authors: Shang-Hui
authors: SH
authors: Zhou
authors: Department of Oral & Maxillofacial-Head & Neck Oncology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine Shanghai, China.
authors: Wen-Jun
authors: WJ
authors: Yang
authors: Department of Oral & Maxillofacial-Head & Neck Oncology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine Shanghai, China.
authors: Sheng-Wen
authors: SW
authors: Liu
authors: Department of Oral Pathology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine Shanghai, China.
authors: Jiang
authors: J
authors: Li
authors: Department of Oral Pathology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine Shanghai, China.
authors: Chun-Ye
authors: CY
authors: Zhang
authors: Department of Oral & Maxillofacial-Head & Neck Oncology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine Shanghai, China.
authors: Yun
authors: Y
authors: Zhu
authors: Department of Oral & Maxillofacial-Head & Neck Oncology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine Shanghai, China.
authors: Chen-Ping
authors: CP
authors: Zhang
mesh_terms: D051722:ADAM Proteins / Q000096:biosynthesis* / Q000235:genetics; D000071096:ADAMTS Proteins; D000071121:ADAMTS4 Protein; D015415:Biomarkers / Q000032:analysis*; D005147:Facial Bones / Q000473:pathology*; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics*; D020869:Gene Expression Profiling; D006801:Humans; D007150:Immunohistochemistry; D020411:Oligonucleotide Array Sequence Analysis; D011348:Procollagen N-Endopeptidase / Q000096:biosynthesis* / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D012886:Skull / Q000473:pathology*; D059467:Transcriptome; D015854:Up-Regulation
chemical_list: D015415:Biomarkers; D051722:ADAM Proteins; D000071096:ADAMTS Proteins; C000609307:ADAMTS2 protein, human; D011348:Procollagen N-Endopeptidase; D000071121:ADAMTS4 Protein
keywords: ADAMTS2; Fibrous dysplasia; gene expression profiling; marker