title: Genetic polymorphisms in hypoxia-inducible factor-1a gene and its association with HBV-related hepatocellular carcinoma in a Chinese population.
abstract: Previous studies have demonstrated that hypoxia-inducible factor-1a (HIF-1a) may play a vital role in the pathogenesis of hepatocellular carcinoma (HCC). However, the relationship between HIF-1a polymorphisms and HCC has not been thoroughly investigated. The aim of this study is to determine whether HIF-1a polymorphisms are associated with HCC through a case-control study. Two polymorphisms in the HIF-1a gene (rs11549465 and rs115494657) were examined in 157 hepatitis B virus (HBV)-related HCC patients and 173 healthy controls using the polymerase chain reaction-restriction fragment length polymorphism method. DNA sequencing was used to validate genotype results. There were no significant differences in the genotype and allele frequencies of HIF-1a rs11549465 and rs115494657 polymorphisms between the HBV-related HCC patients and healthy controls. However, the data revealed that subjects with the CG haplotype have a higher susceptibility to HBV-related HCC [odds ratio (OR)=2.327, 95% confidence interval (CI)=1.578-4.721, P=0.008]. In contrast, the CA haplotype was associated with a significantly decreased risk of HBV-related HCC (OR=0.416, 95% CI=0.172-0.910, P=0.025). HIF-1a rs11549465 and rs115494657 polymorphisms appeared to be irrelevant to HBV-related HCC. However, the HIF-1a CG and CA haplotypes might be a risk factor and a protective marker, respectively, for HBV-related HCC in a Chinese population. Further investigations with a larger sample size may be required to validate the genetic effects of HIF-1a polymorphisms on HBV-related HCC.
authors.affiliation: Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
authors.forename: Yanqiong
authors.initials: Y
authors.lastname: Liu
authors.forename: Jingzhe
authors.initials: J
authors.lastname: Sui
authors.forename: Limin
authors.initials: L
authors.lastname: Zhai
authors.forename: Shi
authors.initials: S
authors.lastname: Yang
authors.forename: Li
authors.initials: L
authors.lastname: Huang
authors.forename: Liying
authors.initials: L
authors.lastname: Huang
authors.forename: Cuiju
authors.initials: C
authors.lastname: Mo
authors.forename: Junrong
authors.initials: J
authors.lastname: Wu
authors.forename: Shan
authors.initials: S
authors.lastname: Li
authors.forename: Xue
authors.initials: X
authors.lastname: Qin
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D006528:Carcinoma, Hepatocellular / Q000235:genetics* / Q000821:virology; D016022:Case-Control Studies; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006509:Hepatitis B / Q000150:complications*; D006515:Hepatitis B virus; D006801:Humans; D051795:Hypoxia-Inducible Factor 1, alpha Subunit / Q000235:genetics*; D008113:Liver Neoplasms / Q000235:genetics* / Q000821:virology; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors; D017422:Sequence Analysis, DNA
chemical_list: C497442:HIF1A protein, human; D051795:Hypoxia-Inducible Factor 1, alpha Subunit