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Korean J Gastroenterol. 2003 Sep;42(3):212-219. Korean. Original Article.
Kwon OS , Song SH , Ju KT , Chung MG , Park DK , Kim SS , Kim YS , Koo YS , Kim YK , Choi DJ , Kim JH , Hwang YJ , Byun KS , Lee CH .
Department of Internal Medicine, Gachon Medical School, Inchon, Korea.
Department of Molecular Biology, Gachon Medical School, Inchon, Korea.
Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea.

BACKGROUND/AIMS: The genetic polymorphism of transforming growth factor-beta1 (TGF-beta1) at codons 10 and 25 which influences the production of TGF-beta1 is related to fibrogenesis in the lung and liver. We evaluated the genetic polymorphism at codons 10 and 25 in controls and in patients with liver cirrhosis (LC) and hepatocellular carcinoma (HCC). METHODS: Blood samples were collected from controls (n=35), patients with LC (n=64), and HCC (n=49). Genomic DNA was isolated and polymerase chain reaction (PCR) was done for a segment including codons 10 and 25. The results of direct sequencing for PCR products were compared between the controls and the patients. RESULTS: There was no genetic polymorphism at codon 25 and three types of genetic polymorphism at codon 10. The leucine homozygous genotype (CTG/CTG) at codon 10 was more common in patients with LC than the controls (p=0.01) and especially in patients with LC caused by HBV (p=0.004). The polymorphism at codons 10 in patients with HCC was similar to the controls. However, leucine homozygous genotype was more common in patients with HCC of uninodular morphology than those of massive morphology (p=0.007). CONCLUSIONS: The genetic polymorphism of TGF-beta1 at codon 10 might be associated with LC and morphology of HCC. The potential usefulness of TGF-beta1 genotyping needs further studies in large scale.

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