Lee Jong Joon, Park Soo Kyung, Kwon Oh Sang, Won In Sik, Kim Dong Kyu, Jung Young Kul, Ku Yang Suh, Kim Yun Soo, Choi Duck Joo, Kim Ju Hyun
Department of Internal Medicine, Gachon University of Medicine and Science, Incheon, Korea.
Korean J Hepatol. 2011 Mar;17(1):37-43. doi: 10.3350/kjhep.2011.17.1.37.
BACKGROUND/AIMS: Transforming growth factor beta1 (TGF-β1) is a key cytokine in the production of extracellular matrix. A genetic polymorphism at codon 10 of the TGF-β1 gene is associated with liver fibrosis. We investigated the effect of genetic polymorphisms at codon 10 on the development of alcoholic liver cirrhosis (ALC).
In total, 119 controls and 182 patients with ALC, were enrolled in the study. Clinical and laboratory data including total lifetime alcohol intake were collected at enrollment. The genotype at codon 10 was determined for each patient by single-strand conformation polymorphism.
There were three types of genetic polymorphism at codon 10: homozygous proline (P/P), heterozygous proline/leucine (P/L), and homozygous leucine (L/L). Among the controls, the proportions of P/P, P/L, and L/L were 26.1%, 44.5%, and 29.4%, respectively in the ALC group, these proportions were 23.1%, 43.4%, and 33.5%, respectively. The genotype distribution did not differ between the controls and the ALC group. In the ALC group, age, total lifetime alcohol intake, and distribution of Child-Pugh class did not differ with the genotype. Of the male patients with ALC (n=164), the proportions of P/P, P/L, and L/L were 20.1%, 44.5%, and 35.4%, respectively the genotype distribution did not differ between the male controls and the male ALC patients.
The genotype at codon 10 in TGF-β1 does not appear to influence the development of ALC. Further study is needed to investigate other genetic factors that influence the development of ALC in patients with chronic alcohol intake.
背景/目的：转化生长因子β1（TGF-β1）是细胞外基质产生中的关键细胞因子。TGF-β1基因第10密码子处的基因多态性与肝纤维化相关。我们研究了第10密码子处的基因多态性对酒精性肝硬化（ALC）发生发展的影响。
本研究共纳入119名对照者和182例ALC患者。在入组时收集包括终生总酒精摄入量在内的临床和实验室数据。通过单链构象多态性确定每位患者第10密码子处的基因型。
第10密码子处有三种基因多态性类型：纯合脯氨酸（P/P）、杂合脯氨酸/亮氨酸（P/L）和纯合亮氨酸（L/L）。在对照组中，P/P、P/L和L/L的比例分别为26.1%、44.5%和29.4%；在ALC组中，这些比例分别为23.1%、43.4%和33.5%。对照组和ALC组之间的基因型分布没有差异。在ALC组中，年龄、终生总酒精摄入量和Child-Pugh分级分布与基因型无关。在男性ALC患者（n = 164）中，P/P、P/L和L/L的比例分别为20.1%、44.5%和35.4%，男性对照组和男性ALC患者之间的基因型分布没有差异。
TGF-β1第10密码子处的基因型似乎不影响ALC的发生发展。需要进一步研究以探讨影响慢性酒精摄入患者ALC发生发展的其他遗传因素。
