title: Association of EFEMP1 gene polymorphisms with the risk of glioma: A hospital-based case-control study in a Chinese Han population.
abstract: BACKGROUND
  EGF-containing fibulin-like extracellular matrix protein1 (EFEMP1) gene was relative with the formation and development of tumors and had an anti-angiogenic function. Recently, many studies investigating the function of EFEMP1 gene, including its roles in prostate cancer and glioma, have been reported. EFEMP1 suppressed glioma growth by modulating EGFR and AKT signaling pathway or promoted growth through the regulation of Notch pathway were identified. However, the susceptibility of EFEMP1and glioma has not been well studied to date. Here, the authors were aimed to investigate whether the single nucleotide polymorphisms (SNPs) of EFEMP1 were associated with glioma susceptibility.
  
  
  METHODS
  The authors genotyped 14 common tagging SNPs of EFEMP1 gene via the Sequenom Mass ARRYiPLEX platform and assessed their association with glioma risk in a hospital-based case-control study in a Chinese Han population (979 cases and 1007 controls).
  
  
  RESULTS
  Four SNPs were significant associated with glioma risk (rs1346787, P=0.004, adjusted OR=1.49; rs3791679, P=0.014, adjusted OR=1.27; rs1346786, P=0.002, adjusted OR=1.41; rs3791675, P=0.011, adjusted OR=1.27). In further stratified analysis, all the significant SNPs except rs1346787 were associated with both low-grade gliomas and glioblastoma (GBM). In haplotype analysis, 4 haplotype blocks were identified and 2 of them were revealed significant associated with glioma, the haplotype "AA" (adjusted OR=1.44, P=0.005) in block 1 and haplotype "GG" (adjusted OR=1.65, P=0.0004) in block 2 had a 44% and 65% increased glioma risk respectively, compared with corresponding non-carriers. The results of haplotype analysis were significantly consistent with the single-locus analysis.
  
  
  CONCLUSIONS
  The authors' results suggested that common genetic variants in EFEMP1 gene were associated with glioma and contributed to glioma susceptibility, which might help to reveal the mechanism of gliomas and provide new insight for the diagnosis and treatment.
authors: State Key Laboratory of Genetic Engineering, Fudan-VARI Genetic Epidemiology Center and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes for Biomedical Sciences, Fudan University, Shanghai, China.
authors: Shuo
authors: S
authors: Zhang
authors: Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, China.
authors: Zhao
authors: Z
authors: Ye
authors: State Key Laboratory of Genetic Engineering, Fudan-VARI Genetic Epidemiology Center and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes for Biomedical Sciences, Fudan University, Shanghai, China.
authors: Xiao
authors: X
authors: Song
authors: Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, China.
authors: Gong
authors: G
authors: Chen
authors: State Key Laboratory of Genetic Engineering, Fudan-VARI Genetic Epidemiology Center and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes for Biomedical Sciences, Fudan University, Shanghai, China.
authors: Cong
authors: C
authors: Huai
authors: State Key Laboratory of Genetic Engineering, Fudan-VARI Genetic Epidemiology Center and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes for Biomedical Sciences, Fudan University, Shanghai, China.
authors: Qihan
authors: Q
authors: Wang
authors: Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, China.
authors: Jianping
authors: J
authors: Song
authors: State Key Laboratory of Genetic Engineering, Fudan-VARI Genetic Epidemiology Center and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes for Biomedical Sciences, Fudan University, Shanghai, China.
authors: Daru
authors: D
authors: Lu
authors: Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, China.
authors: Yao
authors: Y
authors: Zhao
authors: State Key Laboratory of Genetic Engineering, Fudan-VARI Genetic Epidemiology Center and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes for Biomedical Sciences, Fudan University, Shanghai, China. Electronic address: chenhongyan28@gmail.com.
authors: Hongyan
authors: H
authors: Chen
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People; D016022:Case-Control Studies; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005909:Glioblastoma / Q000235:genetics; D005910:Glioma / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C119630:EFEMP1 protein, human; D016326:Extracellular Matrix Proteins
keywords: EFEMP1gene; Genetic susceptibility; Genetic variations; Glioma; Molecular biology; Oncology