The Polymorphism of EME1 Gene is Associated with an Increased Risk of Lung Cancer: A Case-Control Study from Chinese Population
Pages 174-181
Jianwei Zhao, Yongxiu Chen, Xiaoxiao Lu, Di Wu, Jiansong Chen, Zhihuang Chen, Lin Liu, Lei Yang, Lan Zhang, Yifeng Zhou and Jiachun Lu

DOI: http://dx.doi.org/10.6000/1929-2279.2014.03.04.1

Published: 24 November 2014

Abstract: DNA double-strand breaks (DSBs) can lead to genomic instability and cancer susceptibility if unrepaired. EME1 is one of the key proteins that participate in the recognition and repair of DSBs in humans. We hypothesized that the exonic variants of EME1 are associated with lung cancer risk. In a two-stage case-control study of 1559 lung cancer patients and 1679 cancer-free controls, we genotyped two exonic variants of EME1(Glu69Asp: rs3760413T>G and Ile350Thr: rs12450550T>C) and analyzed their associations with risk of lung cancer. We found that the Asp variant genotypes conferred 1.35-folds risk of lung cancer compared to the Glu/Glu genotype (OR = 1.35, 95%CI = 1.18-1.56, P = 2.18 × 10^-5) in both stages. However, the SNP Ile350Thr was not confirmed to be associated with cancer risk in both stages. Moreover, by querying the gene expression database, we further found that the 69Asp variant genotypes confer a significantly lower mRNA expression of EME1 than the Glu/Glu genotype in 260 cases of lymphoblastoid cells (P=0.013). Our findings suggested that the SNP Glu69Asp of EME1 is associated with an increased risk of lung cancer, and may be a functional biomarker to predict lung cancer risk in Chinese. Validations in other ethnics are warranted.