An insertion/deletion polymorphism within the promoter of EGLN2 is associated with susceptibility to colorectal cancer



To investigate the association between susceptibility to colorectal cancer (CRC) and a 4-bp insertion/deletion polymorphism (rs10680577) in the proximal promoter of the EGLN2 gene.


The first step in genotyping EGLN2 was PCR, then the PCR products were separated using 7% nondenaturing polyacrylamide gel electrophoresis and visualized by silver staining according to the final product band location and quantity to determine the genotype of the sample. The final count was done by two different pathologists.


In the codominant model, compared with the ins/ins genotype, subjects with the heterozygous ins/del or homozygous del/del genotype had a significantly increased risk of CRC (adjusted OR = 1.45, p<0.0001 and OR = 2.44, p = 0.0001, respectively). Each additional copy of the 4-bp deletion allele conferred a significantly increased risk of CRC (OR = 1.47, 95% CI 1.28-1.66, p<0.0001). In the stratification analysis, we further proved that the association was more prominent in TNM stage III and IV cancer compared with stage I and II (adjusted OR = 1.43, 95% CI 1.07-1.93, p for heterogeneity = 0.02).


Our study provided initial evidence that the insertion/deletion polymorphism rs10680577 may play a functional role in the development of CRC in the Chinese population.

Int J Biol Markers 2017; 32(3): e274 - e277




Chaoyang Li, Lanjun Feng, Luwei Niu, Teng Teng Li, Bin Zhang, Huiping Wan, Zhansheng Zhu, Hao Liu, Kai Wang, Haixiao Fu, Wei Fu

Article History


Financial support: This study was supported by grants from the Natural Science Foundation of China (No. 81502428), the Natural Science Foundation of Jiangsu Province (No. BK20140243, No. BK20140222, No. 15KJB310024 and No. BK20150220), and Xuzhou Medical University Scientific Research Fund for Talents (No. D2015018 to Zhansheng Zhu and No. D2015019 to Huiping Wang).
Conflict of interest: The authors declare that they have no conflict of interest.

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  • Department of Gastrointestinal Surgery, Affiliated Hospital of Xuzhou Medical University, Jiangsu, Xuzhou - China
  • Chaoyang Li and Lanjun Feng contributed equally to this work.

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