title: Identification of a Low-Frequency Missense Variant in E2F Transcription Factor 7 Associated with Colorectal Cancer Risk In A Chinese Population
abstract: Background: Transcription factors regulate gene expression and play important role in tumor genesis. Especially,
  the E2F transcription factor family controls the cell cycle and regulate many tumor suppressors. Missense variants
  in E2F family genes, which change the amino acid sequence, may alter the capacity for DNA binding or the protein
  structure, leading to a functional alteration. Material and Methods: We here searched for missense variants in E2F
  transcription family genes (E2F1~E2F8) and identified two (rs2075995 for E2F2 and rs3829295 for E2F7) with minor
  allele frequencies >0.01 in Chinese Han Beijing population from the 1000 genome project. We genotyped these two
  variants in 1,055 colorectal cancer (CRC) patients and 1,936 healthy controls using Taqman genotyping assays and
  assessed associations between SNPs and risk of CRC using logistic regression adjusted for gender and age. Results: We
  found rs3829295 at E2F7 to be significantly associated with risk of CRC. Compared with TT genotype carriers, CT and
  CT+CC genotype carriers had lower risks of CRC with ORs of 0.61 (95% CI: 0.44-0.85, P=0.003) and 0.61 (95% CI:
  0.44-0.84, P=0.003), respectively. When stratified by gender and age, significant associations were observed in males
  (OR= 0.56, 95% CI: 0.38-0.83, P=0.004) for rs3829295, but not females (OR= 0.73, 95% CI: 0.43-1.22, P=0.232).
  Conclusion: Through a systematic assessment of variants in the E2F transcription factor family, we identified a lowfrequent
  missense variant in E2F7 significantly associated with CRC risk, indicating that E2F7 may play an important
  role in development of this tumor type.
authors.affiliation: Department of Clinical Laboratory , People’s Hospital of Zhengzhou University and Henan Provincial People’s Hospital, Zhengzhou, China. Email: gaolan8@126.com, hujinlong0305@sina.com.
authors.forename: Ai Ye
authors.initials: AY
authors.lastname: Guo
authors.forename: Kan
authors.initials: K
authors.lastname: Zhai
authors.forename: Jin Ling
authors.initials: JL
authors.lastname: Xu
authors.forename: Jin Long
authors.initials: JL
authors.lastname: Hu
authors.forename: Lan
authors.initials: L
authors.lastname: Gao
keywords: Colorectal cancer; E2F transcription factor 7; missense variant; susceptibility; case-control