Genetic polymorphisms of transforming growth factor β-1 promoter and primary biliary cirrhosis in Japanese patients

Kentaro Kikuchi, Atsushi Tanaka, Masanao Matsushita, Eriko Kitazawa, Naomi Hosoya, Yumi Kawashima, Carlo Selmi, M. Eric Gershwin, Hiroshi Miyakawa

Research output: Chapter in Book/Report/Conference proceedingConference contribution


As suggested by concordance rates in twins, genetic factors are critical to the susceptibility and progression of primary biliary cirrhosis (PBC). Among cytokines, transforming growth factor beta-1 (TGF-β1) plays an important role in autoimmunity and liver fibrosis and a TGF-β1 receptor knockout mouse has been recently proposed as a model for PBC. The promoter region of the TGF-β1 gene has two single nucleotide polymorphisms (SNPs) at positions -800 and -509, which influence serum concentrations of latent and active TGF-β1. We studied genomic DNA from 65 Japanese patients with PBC and 71 matched healthy controls for the association of TGF-β1 SNPs analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with susceptibility and disease progression of PBC. The -800 G to A SNP was not found in the Japanese population and no significant difference in the distribution of TGF-β1 promoter gene -509 SNP was found between PBC cases and controls. Further, TGF-β1 genotypes failed to correlate with clinical parameters, including histological stage and prognostic score. In conclusion, the TGF-β1 promoter gene SNPs are not associated with disease susceptibility or progression in Japanese patients with PBC.

Original languageEnglish
Title of host publicationAnnals of the New York Academy of Sciences
Number of pages8
Publication statusPublished - Sep 2007

Publication series

NameAnnals of the New York Academy of Sciences
ISSN (Print)00778923
ISSN (Electronic)17496632


  • Autoimmune cholestasis
  • Disease severity
  • Genetic susceptibility

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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