The Relationship Between Single Nucleotide Polymorphisms of and Risk of Esophageal Squamous Cell Carcinoma in Chinese Population.

BACKGROUND

The TGF-β signal pathways play a key role in the development and promotion of squamous cell carcinoma (SCC). The pathway is mediated by the family proteins that include and . Our study aimed to evaluate the relationship between single nucleotide polymorphism (SNP) of and susceptibility to esophageal squamous cell carcinoma (ESCC) in the Chinese population.

PATIENTS AND METHODS

This was a hospital-based case-control study compromised of 1043 ESCC patients and 1315 non-cancer patients. Seven (rs8028147, rs3743343, rs3743342, rs8025774, rs8031440, rs803167, and rs34643453) SNPs were selected and used to evaluate their correlation with ESCC susceptibility. Genetic model tests, stratified analyses, linkage disequilibrium analyses, and haplotype analyses were performed in our study.

RESULTS

Participants with rs3743342 C>T, rs8025774 C>T, rs8031440 G>A or rs8031627 G>A had a significantly higher risk of ESCC. This was more evident in males, older patients (>63 years), smokers, and non-alcohol drinking participants. Linkage disequilibrium analyses further revealed that there were strong correlations between rs3743342 C>T, rs8025774 C>T, rs8031440 G>A, and rs8031627 G>A. In the same line, haplotype analyses revealed that ACCCGGA and AGCCGGA were associated with less susceptibility to ESCC while ATTTAAA was associated with a higher risk of ESCC.

CONCLUSION

SNPs of were related to higher susceptibility to ESCC. As such, they may contribute to the development of viable strategies for early diagnosis and treatment of ESCC. However, more detailed association mechanisms between SNPs and ESCC need further experiments to prove.