Association of PTEN polymorphisms with susceptibility to hepatocellular carcinoma in a Han Chinese population

DNA Cell Biol. 2011 Apr;30(4):229-34. doi: 10.1089/dna.2010.1126. Epub 2010 Dec 7.


The phosphate and tension homolog (PTEN) is a tumor suppressor gene that controls a variety of biological processes including cell proliferation, migration, and death. The association of PTEN polymorphisms with risk for many cancers has been reported, but hepatocellular carcinoma (HCC) has not yet been studied. The present study is the first attempt to assess the association of PTEN polymorphisms with HCC susceptibility. We genotyped one insertion/deletion polymorphism (rs34421660) by polymerase chain reaction (PCR) method and three tag single-nucleotide polymorphisms (rs10490920, rs532678, and rs701848) by polymerase chain reaction-restriction fragment length polymorphism in 134 HCC patients and 215 healthy controls. We found that the four polymorphisms were not associated with HCC, at both the allele and genotype levels. However, after reconstructing PTEN haplotypes according to genotyping data and linkage disequilibrium status of four polymorphisms, we found that the T-C-C-del haplotype was associated with decreased HCC risk (odds ratio = 0.19, 95% confidence interval = 0.06-0.56) and the T-T-T-ins haplotype was associated with increased HCC risk (odds ratio = 1.63, 95% confidence interval = 1.14-2.33). Thus, our results prove that PTEN haplotypes may be associated with HCC susceptibility in a Chinese Han population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alcohol Drinking / epidemiology
  • Asian Continental Ancestry Group / genetics
  • Asian Continental Ancestry Group / statistics & numerical data
  • Carcinoma, Hepatocellular / genetics*
  • Female
  • Genetic Association Studies / statistics & numerical data
  • Genetic Predisposition to Disease
  • Haplotypes
  • Humans
  • INDEL Mutation / genetics
  • Linkage Disequilibrium
  • Liver Neoplasms / genetics*
  • Male
  • Middle Aged
  • Neoplasm Staging
  • PTEN Phosphohydrolase / genetics*
  • Polymorphism, Genetic
  • Polymorphism, Single Nucleotide / genetics
  • Risk
  • Smoking / epidemiology


  • PTEN Phosphohydrolase
  • PTEN protein, human