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Genetic Polymorphisms of Transforming Growth Factor β‐1 Promoter and Primary Biliary Cirrhosis in Japanese Patients
Author(s) -
KIKUCHI KENTARO,
TANAKA ATSUSHI,
MATSUSHITA MASANAO,
KITAZAWA ERIKO,
HOSOYA NAOMI,
KAWASHIMA YUMI,
SELMI CARLO,
GERSHWIN M. ERIC,
MIYAKAWA HIROSHI
Publication year - 2007
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1423.003
Subject(s) - primary biliary cirrhosis , transforming growth factor , genetics , medicine , polymorphism (computer science) , biology , gastroenterology , allele , gene
: 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.