Oliver Javier, Agúndez José A G, Morales Sonia, Fernández-Arquero Miguel, Fernández-Gutierrez Benjamín, de la Concha Emilio G, Díaz-Rubio Manuel, Martín Javier, Ladero José M
Instituto de Parasitología y Biomedicina, CSIC, Granada, Spain.
Liver Int. 2005 Oct;25(5):935-9. doi: 10.1111/j.1478-3231.2005.01150.x.
BACKGROUND/AIMS: There are wide interindividual differences in the risk of developing alcoholic cirrhosis. Transforming growth factor beta(1) (TGF-beta(1)) is the main cytokine involved in liver fibrogenesis. The TGF-beta(1) gene is polymorphic at several sites and these polymorphisms are probably related to differences in the rate of TGF-beta(1) synthesis. Our aim has been to analyse the influence of the TGF-beta(1) gene polymorphisms in the predisposition to advanced alcoholic liver disease (ALD) in ethanol abusers.
TGF-beta(1) single nucleotide polymorphisms at positions -509 (C or T), +869 (C or T, codon 10), and +915 (C or G, codon 25) were examined in 165 alcoholics with advanced ALD and in 185 healthy controls.
Among the 94 male patients with oesophageal varices, those carrying the GG genotype at position +915 were diagnosed at an older age than the remaining patients (age 52.1 years, standard deviation (SD) 9.9 vs. 45 SD 13.4, P=0.012). No other statistically significant differences were found in the distribution of the three TGF-beta(1) polymorphisms analysed individually or as combined haplotypes.
The polymorphisms at the TGF-beta(1) gene analysed in this study are probably not related to the risk of advanced ALD.
背景/目的：酒精性肝硬化的发病风险存在广泛的个体差异。转化生长因子β1（TGF-β1）是参与肝脏纤维化形成的主要细胞因子。TGF-β1基因在多个位点存在多态性，这些多态性可能与TGF-β1合成速率的差异有关。我们的目的是分析TGF-β1基因多态性对酒精滥用者发生晚期酒精性肝病（ALD）易感性的影响。
在165例晚期ALD患者和185例健康对照中检测TGF-β1基因-509（C或T）、+869（C或T，密码子10）和+915（C或G，密码子25）位点的单核苷酸多态性。
在94例患有食管静脉曲张的男性患者中，+915位点携带GG基因型的患者诊断时年龄比其余患者大（年龄52.1岁，标准差（SD）9.9，而其余患者为45岁，SD 13.4，P=0.012）。单独分析或作为组合单倍型分析的三种TGF-β1多态性的分布未发现其他统计学上的显著差异。
本研究中分析的TGF-β1基因多态性可能与晚期ALD的风险无关。
