Research Article

SNP at miR-483-5p-binding site in the 3'-untranslated region of the BSG gene is associated with susceptibility to esophageal cancer in a Chinese population

Published: June 20, 2016
Genet. Mol. Res. 15(2): gmr7735 DOI: https://doi.org/10.4238/gmr.15027735
Cite this Article:
H.Y. Li, Y.C. Liu, Y.H. Bai, M. Sun, L. Wang, X.B. Zhang, B. Cai, H.Y. Li, Y.C. Liu, Y.H. Bai, M. Sun, L. Wang, X.B. Zhang, B. Cai (2016). SNP at miR-483-5p-binding site in the 3'-untranslated region of the BSG gene is associated with susceptibility to esophageal cancer in a Chinese population. Genet. Mol. Res. 15(2): gmr7735. https://doi.org/10.4238/gmr.15027735
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Abstract

The aim of this study was to investigate the association between a functional variant of the basigin (BSG) gene, caused by a polymorphism (rs11473) at the miR-483-5p binding site, and the risk of esophageal squamous cell carcinoma (ESCC) in the Chinese population. The rs11473 polymorphism was genotyped in 624 esophageal cancer patients and 636 cancer-free age- and gender-matched controls using polymerase chain reaction restriction and direct sequencing. The functional variants resulting from the BSG rs11473 SNP were investigated using a luciferase activity assay and validated by immunoblotting. We discovered that ESCC patients carrying the rs11473 AA genotype or A allele were at a significantly higher risk of esophageal cancer [odds ratio (OR) = 1.560, 95% confidence interval  (CI) = 1.031-2.358, P = 0.037; OR = 1.231, 95%CI = 1.038-1.459, P = 0.017, respectively] than those carrying the GG genotype and G allele. Moreover, the rs11473 polymorphism modifies the binding of miR-483- 5p to basigin, as well as the basigin protein levels in esophageal cancer patients. Our data suggested that the rs11473 polymorphism at the miR- 483-5p binding site in the 3'-UTR of basigin gene may play a key role in the development of esophageal cancer in a Chinese population.

The aim of this study was to investigate the association between a functional variant of the basigin (BSG) gene, caused by a polymorphism (rs11473) at the miR-483-5p binding site, and the risk of esophageal squamous cell carcinoma (ESCC) in the Chinese population. The rs11473 polymorphism was genotyped in 624 esophageal cancer patients and 636 cancer-free age- and gender-matched controls using polymerase chain reaction restriction and direct sequencing. The functional variants resulting from the BSG rs11473 SNP were investigated using a luciferase activity assay and validated by immunoblotting. We discovered that ESCC patients carrying the rs11473 AA genotype or A allele were at a significantly higher risk of esophageal cancer [odds ratio (OR) = 1.560, 95% confidence interval  (CI) = 1.031-2.358, P = 0.037; OR = 1.231, 95%CI = 1.038-1.459, P = 0.017, respectively] than those carrying the GG genotype and G allele. Moreover, the rs11473 polymorphism modifies the binding of miR-483- 5p to basigin, as well as the basigin protein levels in esophageal cancer patients. Our data suggested that the rs11473 polymorphism at the miR- 483-5p binding site in the 3'-UTR of basigin gene may play a key role in the development of esophageal cancer in a Chinese population.