Association of EFEMP1 gene polymorphisms with the risk of glioma: A hospital-based case-control study in a Chinese Han population

Shuo Zhang; Zhao Ye; Xiao Song; Gong Chen; Cong Huai; Qihan Wang; Jianping Song; Daru Lu; Yao Zhao; Hongyan Chen

doi:10.1016/j.jns.2014.12.025

Association of EFEMP1 gene polymorphisms with the risk of glioma: A hospital-based case-control study in a Chinese Han population

J Neurol Sci. 2015 Feb 15;349(1-2):54-9. doi: 10.1016/j.jns.2014.12.025. Epub 2015 Jan 9.

Authors

Shuo Zhang¹, Zhao Ye², Xiao Song¹, Gong Chen², Cong Huai¹, Qihan Wang¹, Jianping Song², Daru Lu¹, Yao Zhao², Hongyan Chen³

Affiliations

¹ 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.
² Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, China.
³ 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.

PMID: 25638659
DOI: 10.1016/j.jns.2014.12.025

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.

Keywords: EFEMP1gene; Genetic susceptibility; Genetic variations; Glioma; Molecular biology; Oncology.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Asian People
Case-Control Studies
Extracellular Matrix Proteins / genetics*
Genetic Predisposition to Disease
Genetic Variation*
Glioblastoma / genetics
Glioma / genetics*
Haplotypes
Humans
Middle Aged
Polymorphism, Single Nucleotide
Risk Factors

Substances

EFEMP1 protein, human
Extracellular Matrix Proteins