Research Papers:

Impact of interaction between the G870A and EFEMP1 gene polymorphism on glioma risk in Chinese Han population

Libin Yang _, Bo Qu, Xun Xia, Yongqin Kuang, Jian Li, Kexia Fan, Heng Guo, Hui Zheng and Yuan Ma

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Oncotarget. 2017; 8:37561-37567. https://doi.org/10.18632/oncotarget.16581

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Libin Yang1,*, Bo Qu1,*, Xun Xia1, Yongqin Kuang1, Jian Li2, Kexia Fan1, Heng Guo1, Hui Zheng1 and Yuan Ma1

1Department of Neurosurgery, Chengdu Military General Hospital, Chengdu, Sichuan 610083, China

2Department of Anatomy, Chengdu Medical College, Chengdu, Sichuan 610500, China

*These authors have contributed equally to this work

Correspondence to:

Yuan Ma, email: [email protected]

Keywords: CCND1, EFEMP1, glioma, SNP, interaction

Received: September 08, 2016    Accepted: January 23, 2017    Published: March 27, 2017


Aims: To investigate the impact of CCND1 and EFEMP1 gene polymorphism, and additional their gene-gene interactions and haplotype within EFEMP1 gene on glioma risk based on Chinese population.

Methods: Logistic regression was performed to investigate association between single-nucleotide polymorphisms (SNP) and glioma risk and generalized multifactor dimensionality reduction (GMDR) was used to analyze the gene-gene interaction.

Results: Glioma risks were higher in carriers of homozygous mutant of rs603965 within CCND1 gene, rs1346787 and rs3791679 in EFEMP1 gene than those with wild-type homozygotes, OR (95%CI) were 1.67 (1.23-2.02), 1.59 (1.25-2.01) and 1.42 (1.15-1.82), respectively. GMDR analysis indicated a significant two-locus model (p=0.0010) involving rs603965 within CCND1 gene and rs1346787 within EFEMP1 gene. Overall, the cross-validation consistency of the two- locus models was 10\ 10, and the testing accuracy is 60.17%. Participants with rs603965 - GA or AA and rs1346787- AG or GG genotype have the highest glioma risk, compared to participants with rs603965 - GG and rs1346787- AA genotype, OR (95%CI) was 3.65 (1.81-5.22). We conducted haplotype analysis for rs1346787 and rs3791679, because D′ value between rs1346787 and rs3791679 was more than 0.8. The most common haplotype was rs1346787 – A and rs3791679- G haplotype, the frequency of which was 0.4905 and 0.4428 in case and control group.

Conclusions: Polymorphism in rs603965 within CCND1 gene and rs1346787 within EFEMP1 gene and its gene- gene interaction were associated with increased glioma risk.

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