title: An insertion/deletion polymorphism within the promoter of EGLN2 is associated with susceptibility to colorectal cancer.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Gastrointestinal Surgery, Affiliated Hospital of Xuzhou Medical University, Jiangsu, Xuzhou - China.
authors.forename: Chaoyang
authors.initials: C
authors.lastname: Li
authors.affiliation: Department of Gastrointestinal Surgery, Affiliated Hospital of Xuzhou Medical University, Jiangsu, Xuzhou - China.
authors.forename: Lanjun
authors.initials: L
authors.lastname: Feng
authors.affiliation: Department of Gastrointestinal Surgery, Affiliated Hospital of Xuzhou Medical University, Jiangsu, Xuzhou - China.
authors.forename: Luwei
authors.initials: L
authors.lastname: Niu
authors.affiliation: Department of Gastrointestinal Surgery, Affiliated Hospital of Xuzhou Medical University, Jiangsu, Xuzhou - China.
authors.forename: Teng
authors.initials: T
authors.lastname: Teng Li
authors.affiliation: Department of Gastrointestinal Surgery, Affiliated Hospital of Xuzhou Medical University, Jiangsu, Xuzhou - China.
authors.forename: Bin
authors.initials: B
authors.lastname: Zhang
authors.affiliation: Department of Gastrointestinal Surgery, Affiliated Hospital of Xuzhou Medical University, Jiangsu, Xuzhou - China.
authors.forename: Huiping
authors.initials: H
authors.lastname: Wan
authors.affiliation: Department of Gastrointestinal Surgery, Affiliated Hospital of Xuzhou Medical University, Jiangsu, Xuzhou - China.
authors.forename: Zhansheng
authors.initials: Z
authors.lastname: Zhu
authors.affiliation: Department of Gastrointestinal Surgery, Affiliated Hospital of Xuzhou Medical University, Jiangsu, Xuzhou - China.
authors.forename: Hao
authors.initials: H
authors.lastname: Liu
authors.affiliation: Department of Gastrointestinal Surgery, Affiliated Hospital of Xuzhou Medical University, Jiangsu, Xuzhou - China.
authors.forename: Kai
authors.initials: K
authors.lastname: Wang
authors.affiliation: Department of Gastrointestinal Surgery, Affiliated Hospital of Xuzhou Medical University, Jiangsu, Xuzhou - China.
authors.forename: Haixiao
authors.initials: H
authors.lastname: Fu
authors.affiliation: Department of Gastrointestinal Surgery, Affiliated Hospital of Xuzhou Medical University, Jiangsu, Xuzhou - China.
authors.forename: Wei
authors.initials: W
authors.lastname: Fu
mesh_terms: D015179:Colorectal Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases / Q000235:genetics* / Q000378:metabolism; D054643:INDEL Mutation; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: C447780:EGLN2 protein, human; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases