title: The mitochondrial DNA 9-bp deletion polymorphism is a risk factor for hepatocellular carcinoma in the Chinese population.
abstract: Hepatocellular carcinoma (HCC) is one of the most common malignancies worldwide. Although molecular biology of carcinogenesis and tumor progression of HCC has been increasingly understood with intense research in recent years, the molecular and cellular mechanisms of HCC pathogenesis are still poorly understood. In the present study, a case-control study including 390 HCC patients and 431 healthy controls was conducted to investigate the association of HCC susceptibility with the mitochondrial DNA (mtDNA) 9-bp deletion polymorphism in Chinese population. Chi-square testing showed that frequencies of 9-bp one repeat or two repeats were significantly different between HCC and control groups. Carriage of 9-bp one repeat fragment was associated with a significantly increased risk of developing HCC (odds ratio=1.48, 95% confidence interval: 1.03-2.14, p=0.027). Stratification analysis further showed that the differences between cases and controls were more obvious in drinkers than nondrinkers. Computational modeling of the 9-bp deletion polymorphism suggests that the mtDNA sequence without the 9-bp deletion polymorphism lies within a predicted binding site (seed region) for hsa-miR-519c-5p and hsa-miR-526a. Our data suggested that the 9-bp deletion polymorphism in mitochondria may influence HCC risk, likely through specific microRNA-mediated regulation, which was possibly involved in the pathogenesis of HCC. The replication of our studies in other populations with larger sample size is warranted.
authors.affiliation: Department of Vascular/Interventional Radiology, Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, P.R. China.
authors.forename: Yiqi
authors.initials: Y
authors.lastname: Jin
authors.forename: Qiang
authors.initials: Q
authors.lastname: Yu
authors.forename: Dayong
authors.initials: D
authors.lastname: Zhou
authors.forename: Lei
authors.initials: L
authors.lastname: Chen
authors.forename: Xianchen
authors.initials: X
authors.lastname: Huang
authors.forename: Guoxiong
authors.initials: G
authors.lastname: Xu
authors.forename: Jian
authors.initials: J
authors.lastname: Huang
authors.forename: Xueren
authors.initials: X
authors.lastname: Gao
authors.forename: Yuzhen
authors.initials: Y
authors.lastname: Gao
authors.forename: Liming
authors.initials: L
authors.lastname: Shen
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D006528:Carcinoma, Hepatocellular / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008113:Liver Neoplasms / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D008297:Male; D035683:MicroRNAs / Q000737:chemistry / Q000235:genetics; D008875:Middle Aged; D017720:Molecular Epidemiology; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; C546194:MIRN519 microRNA, human; D035683:MicroRNAs