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A novel functional DEC1 promoter polymorphism -249T>C reduces risk of squamous cell carcinoma of the head and neck.

Publication ,  Journal Article
Huang, Y-J; Niu, J; Wei, S; Yin, M; Liu, Z; Wang, L-E; Sturgis, EM; Wei, Q
Published in: Carcinogenesis
December 2010

Human DEC1 (deleted in esophageal cancer 1) gene is located on chromosome 9q, a region frequently deleted in various types of human cancers, including squamous cell carcinoma of the head and neck (SCCHN). However, only one epidemiological study has evaluated the association between DEC1 polymorphisms and cancer risk. In this hospital-based case-control study, four potentially functional single-nucleotide polymorphisms -1628 G>A (rs1591420), -606 T>C [rs4978620, in complete linkage disequilibrium with -249T>C (rs2012775) and -122 G>A(rs2012566)], c.179 C>T p.Ala60Val (rs2269700) and 3' untranslated region-rs3750505 as well as the TP53 tumor suppressor gene codon 72 (Arg72Pro, rs1042522) polymorphism were genotyped in 1111 non-Hispanic Whites SCCHN patients and 1130 age-and sex-matched cancer-free controls. After adjustment for age, sex and smoking and drinking status, the variant -606CC (i.e. -249CC) homozygotes had a significantly reduced SCCHN risk (adjusted odds ratio = 0.71, 95% confidence interval = 0.52-0.99) compared with the -606TT homozygotes. Stratification analyses showed that a reduced risk associated with the -606CC genotype was more pronounced in subgroups of non-smokers, non-drinkers, younger subjects (defined as ≤57 years), carriers of the TP53 Arg/Arg (rs1042522) genotype, patients with oropharyngeal cancer or late-stage SCCHN. Further in silico analysis revealed that the -249 T-to-C change led to a gain of a transcription factor-binding site. Additional functional analysis showed that the -249T-to-C change significantly enhanced transcriptional activity of the DEC1 promoter and the DNA-protein-binding activity. We conclude that the DEC1 promoter -249 T>C (rs2012775) polymorphism is functional, modulating susceptibility to SCCHN among non-Hispanic Whites.

Duke Scholars

Published In

Carcinogenesis

DOI

EISSN

1460-2180

Publication Date

December 2010

Volume

31

Issue

12

Start / End Page

2082 / 2090

Location

England

Related Subject Headings

  • Tumor Suppressor Proteins
  • Promoter Regions, Genetic
  • Polymorphism, Single Nucleotide
  • Oncology & Carcinogenesis
  • Middle Aged
  • Male
  • Humans
  • Head and Neck Neoplasms
  • HCT116 Cells
  • Genes, p53
 

Citation

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Chicago
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MLA
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Huang, Y.-J., Niu, J., Wei, S., Yin, M., Liu, Z., Wang, L.-E., … Wei, Q. (2010). A novel functional DEC1 promoter polymorphism -249T>C reduces risk of squamous cell carcinoma of the head and neck. Carcinogenesis, 31(12), 2082–2090. https://doi.org/10.1093/carcin/bgq198
Huang, Yu-Jing, Jiangong Niu, Sheng Wei, Ming Yin, Zhensheng Liu, Li-E Wang, Erich M. Sturgis, and Qingyi Wei. “A novel functional DEC1 promoter polymorphism -249T>C reduces risk of squamous cell carcinoma of the head and neck.Carcinogenesis 31, no. 12 (December 2010): 2082–90. https://doi.org/10.1093/carcin/bgq198.
Huang Y-J, Niu J, Wei S, Yin M, Liu Z, Wang L-E, et al. A novel functional DEC1 promoter polymorphism -249T>C reduces risk of squamous cell carcinoma of the head and neck. Carcinogenesis. 2010 Dec;31(12):2082–90.
Huang, Yu-Jing, et al. “A novel functional DEC1 promoter polymorphism -249T>C reduces risk of squamous cell carcinoma of the head and neck.Carcinogenesis, vol. 31, no. 12, Dec. 2010, pp. 2082–90. Pubmed, doi:10.1093/carcin/bgq198.
Huang Y-J, Niu J, Wei S, Yin M, Liu Z, Wang L-E, Sturgis EM, Wei Q. A novel functional DEC1 promoter polymorphism -249T>C reduces risk of squamous cell carcinoma of the head and neck. Carcinogenesis. 2010 Dec;31(12):2082–2090.
Journal cover image

Published In

Carcinogenesis

DOI

EISSN

1460-2180

Publication Date

December 2010

Volume

31

Issue

12

Start / End Page

2082 / 2090

Location

England

Related Subject Headings

  • Tumor Suppressor Proteins
  • Promoter Regions, Genetic
  • Polymorphism, Single Nucleotide
  • Oncology & Carcinogenesis
  • Middle Aged
  • Male
  • Humans
  • Head and Neck Neoplasms
  • HCT116 Cells
  • Genes, p53