title: SMAD7 loci contribute to risk of hepatocellular carcinoma and clinicopathologic development among Chinese Han population.
abstract: Genome-wide association studies (GWAS) have identified three loci at 18q21 (rs4939827, rs7240004, and rs7229639), which maps to SMAD7 loci, were associated with risk of diseases of the digestive system. However, their associations with hepatocellular carcinoma (HCC) risk remain unknown. A case-control study was conducted to assess genetic associations with HCC risk and clinicopathologic development among Chinese Han population. Three SNPs were genotyped among 1,000 HCC cases and 1,000 controls using Sequenom Mass-ARRAY technology. We observed statistically significant associations for the three SMAD7 loci and HCC risk. Each copy of minor allele was associated with a 1.24-1.36 fold increased risk of HCC. We also found that significant differences were observed between rs4939827 and clinical TNM stage and vascular invasion, as well as rs7240004 and vascular invasion. We also established a genetic risk score (GRS) by summing the risk alleles. The GRS was significantly associated with increased risk of HCC and vascular invasion. Our data revealed the SMAD7 loci is associated with HCC susceptibility and its clinicopathologic development.
authors.affiliation: Department of Radiology, The Fifth Affiliated Hospital of Wenzhou Medical University/Affiliated Lishui Hospital of Zhejiang University/The Central Hospital of Zhejiang Lishui, Lishui, Zhejiang, P.R. China.
authors.forename: Jiansong
authors.initials: J
authors.lastname: Ji
authors.affiliation: Department of Radiology, The Fifth Affiliated Hospital of Wenzhou Medical University/Affiliated Lishui Hospital of Zhejiang University/The Central Hospital of Zhejiang Lishui, Lishui, Zhejiang, P.R. China.
authors.forename: Min
authors.initials: M
authors.lastname: Xu
authors.affiliation: Department of Radiology, The Fifth Affiliated Hospital of Wenzhou Medical University/Affiliated Lishui Hospital of Zhejiang University/The Central Hospital of Zhejiang Lishui, Lishui, Zhejiang, P.R. China.
authors.forename: Zhongwei
authors.initials: Z
authors.lastname: Zhao
authors.affiliation: Department of Radiology, The Fifth Affiliated Hospital of Wenzhou Medical University/Affiliated Lishui Hospital of Zhejiang University/The Central Hospital of Zhejiang Lishui, Lishui, Zhejiang, P.R. China.
authors.forename: Jianfei
authors.initials: J
authors.lastname: Tu
authors.affiliation: Department of Hepatobiliary Surgery, Beijing Chao-yang Hospital Affiliated with Capital Medical University, Beijing, P.R. China.
authors.forename: Jun
authors.initials: J
authors.lastname: Gao
authors.affiliation: Department of Radiology, The Fifth Affiliated Hospital of Wenzhou Medical University/Affiliated Lishui Hospital of Zhejiang University/The Central Hospital of Zhejiang Lishui, Lishui, Zhejiang, P.R. China.
authors.forename: Chenying
authors.initials: C
authors.lastname: Lu
authors.affiliation: Department of Radiology, The Fifth Affiliated Hospital of Wenzhou Medical University/Affiliated Lishui Hospital of Zhejiang University/The Central Hospital of Zhejiang Lishui, Lishui, Zhejiang, P.R. China.
authors.forename: Jingjing
authors.initials: J
authors.lastname: Song
authors.affiliation: Department of Radiology, The Fifth Affiliated Hospital of Wenzhou Medical University/Affiliated Lishui Hospital of Zhejiang University/The Central Hospital of Zhejiang Lishui, Lishui, Zhejiang, P.R. China.
authors.forename: Weiqian
authors.initials: W
authors.lastname: Chen
authors.affiliation: Department of Radiology, The Fifth Affiliated Hospital of Wenzhou Medical University/Affiliated Lishui Hospital of Zhejiang University/The Central Hospital of Zhejiang Lishui, Lishui, Zhejiang, P.R. China.
authors.forename: Minjiang
authors.initials: M
authors.lastname: Chen
authors.affiliation: Department of Radiology, The Fifth Affiliated Hospital of Wenzhou Medical University/Affiliated Lishui Hospital of Zhejiang University/The Central Hospital of Zhejiang Lishui, Lishui, Zhejiang, P.R. China.
authors.forename: Xiaoxi
authors.initials: X
authors.lastname: Fan
authors.affiliation: Department of Radiology, The Fifth Affiliated Hospital of Wenzhou Medical University/Affiliated Lishui Hospital of Zhejiang University/The Central Hospital of Zhejiang Lishui, Lishui, Zhejiang, P.R. China.
authors.forename: Xingyao
authors.initials: X
authors.lastname: Cheng
authors.affiliation: Department of Radiology, The Fifth Affiliated Hospital of Wenzhou Medical University/Affiliated Lishui Hospital of Zhejiang University/The Central Hospital of Zhejiang Lishui, Lishui, Zhejiang, P.R. China.
authors.forename: Xilin
authors.initials: X
authors.lastname: Lan
authors.affiliation: The First Affiliated Hospital, Chongqing Medical University, Chongqing, P.R. China.
authors.forename: Jie
authors.initials: J
authors.lastname: Li
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D006528:Carcinoma, Hepatocellular / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008113:Liver Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D051906:Smad7 Protein / Q000235:genetics*
chemical_list: C497806:SMAD7 protein, human; D051906:Smad7 Protein
keywords: HCC; SNP; mothers against decapentaplegic homolog 7 (SMAD7); risk; transforming growth factor beta (TGF-β)