title: Genetic polymorphisms of transforming growth factor beta-1 promoter and primary biliary cirrhosis in Japanese patients.
abstract: 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-beta1) plays an important role in autoimmunity and liver fibrosis and a TGF-beta1 receptor knockout mouse has been recently proposed as a model for PBC. The promoter region of the TGF-beta1 gene has two single nucleotide polymorphisms (SNPs) at positions -800 and -509, which influence serum concentrations of latent and active TGF-beta1. We studied genomic DNA from 65 Japanese patients with PBC and 71 matched healthy controls for the association of TGF-beta1 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-beta1 promoter gene -509 SNP was found between PBC cases and controls. Further, TGF-beta1 genotypes failed to correlate with clinical parameters, including histological stage and prognostic score. In conclusion, the TGF-beta1 promoter gene SNPs are not associated with disease susceptibility or progression in Japanese patients with PBC.
authors.affiliation: Fourth Department of Internal Medicine, Teikyo University School of Medicine, Kanagawa 213-8507, Japan.
authors.forename: Kentaro
authors.initials: K
authors.lastname: Kikuchi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Tanaka
authors.forename: Masanao
authors.initials: M
authors.lastname: Matsushita
authors.forename: Eriko
authors.initials: E
authors.lastname: Kitazawa
authors.forename: Naomi
authors.initials: N
authors.lastname: Hosoya
authors.forename: Yumi
authors.initials: Y
authors.lastname: Kawashima
authors.forename: Carlo
authors.initials: C
authors.lastname: Selmi
authors.forename: M Eric
authors.initials: ME
authors.lastname: Gershwin
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Miyakawa
mesh_terms: D000483:Alleles; D044466:Asian People; D005260:Female; D005838:Genotype; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D053773:Transforming Growth Factor beta1