title: Significant association between upstream transcription factor 1 rs2516839 polymorphism and hepatocellular carcinoma risk: a case-control study.
abstract: Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide with high mortality rate. Upstream transcription factor 1 (USF1) is a ubiquitously expressed transcription factor that regulates the expression of genes involving in different biological processes, including cancer. The aim of this study is to examine the correlation between USF1 polymorphisms and HCC susceptibility. Ninety-four HCC patients and 100 healthy volunteers are recruited in our study. Tag single nucleotide polymorphisms (Tag-SNPs) were retrieved in the International HapMap Project Databases. Extraction of genomic DNAs was conducted with TaqMan Blood DNA kits. Genotyping of USF1 polymorphisms were carried out with TaqMan SNPs genotyping assay. Odds ratios (ORs) and their 95% confidence intervals (CIs) were calculated to evaluate the association between USF1 polymorphisms and HCC risk. All statistical analyses were performed with SPSS 20.0 software. Five tag-SNPs were identified to represent the genetic variants of USF1. Our results suggested that rs2516839 in the 5'UTR of USF1 was significantly associated with increased HCC risk (AA vs GG: OR = 3.15; 95% CI 1.44-6.87; P = 0.003; GA + AA vs AA: OR = 1.85; 95% CI 1.04-3.30; P = 0.034; AA vs GG + GA: OR = 2.96; 95% CI 1.40-6.26; P = 0.004; A vs G: OR = 2.09; 9% CI 1.35-3.23; P < 0.001). Although rs2073655 in the intron region of USF1 was also shown to be correlated with decreased HCC susceptibility in recessive model (TT vs CC + CT: OR = 0.40; 95% CI 0.54-0.75; P = 0.004), this association was not conclusive. Our results indicated that the SNP of rs2516839 have close association with increased risk of HCC. Further studies may be needed to validate our results and gain insights into the pathological mechanism of USF1 gene in the HCC tumorigenesis.
authors.affiliation: Department of Oncological Surgery, The Second Hospital of Hebei Medical University, 215 Peace West Road, Shijiazhuang, 050000, China.
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Zhao
authors.forename: Tianyi
authors.initials: T
authors.lastname: Wang
authors.forename: Bo
authors.initials: B
authors.lastname: Liu
authors.forename: Zhenzhou
authors.initials: Z
authors.lastname: Wu
authors.forename: Shuo
authors.initials: S
authors.lastname: Yu
authors.forename: Tao
authors.initials: T
authors.lastname: Wang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People; D063646:Carcinogenesis; D006528:Carcinoma, Hepatocellular / Q000235:genetics* / Q000473:pathology; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008113:Liver Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D051720:Upstream Stimulatory Factors / Q000235:genetics*
chemical_list: C497181:USF1 protein, human; D051720:Upstream Stimulatory Factors