title: 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.
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.
authors.affiliation: Department of Clinical Laboratory, Baoji People's Hospital, Baoji, Shanxi, China.
authors.forename: H Y
authors.initials: HY
authors.lastname: Li
authors.affiliation: Department of Oncology, Taixing People's Hospital, Taixing, Jiangsu, China.
authors.forename: Y C
authors.initials: YC
authors.lastname: Liu
authors.affiliation: Department of Clinical Laboratory, Baoji People's Hospital, Baoji, Shanxi, China.
authors.forename: Y H
authors.initials: YH
authors.lastname: Bai
authors.affiliation: Department of Clinical Laboratory, Baoji People's Hospital, Baoji, Shanxi, China.
authors.forename: M
authors.initials: M
authors.lastname: Sun
authors.affiliation: Department of Clinical Laboratory, Baoji People's Hospital, Baoji, Shanxi, China.
authors.forename: L
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Clinical Laboratory, Baoji People's Hospital, Baoji, Shanxi, China.
authors.forename: X B
authors.initials: XB
authors.lastname: Zhang
authors.affiliation: Department of Clinical Laboratory, Taixing People's Hospital, Taixing, Jiangsu, China.
authors.forename: B
authors.initials: B
authors.lastname: Cai
mesh_terms: D020413:3' Untranslated Regions; D000368:Aged; D051926:Basigin / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D004938:Esophageal Neoplasms / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D035683:MicroRNAs / Q000235:genetics / Q000378:metabolism; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D020413:3' Untranslated Regions; C497886:BSG protein, human; C548912:MIRN483 microRNA, human; D035683:MicroRNAs; D051926:Basigin