人Ⅰ型胶原基因COL1A1启动子区多态性与肝硬化疾病的相关性

Correlation between polymorphism of promoter region ofα1(Ⅰ)collagen gene and hepatic cirrhotic/fibrotic diseases

目的:研究人Ⅰ型胶原基因COL1A1基因启动子区多态性与肝硬化性疾病的相关性。方法:在111例乙型肝炎病毒感染后慢性肝硬化患者和95例正常对照中,用直接测序法对COL1A1基因启动子区3个多态性位点进行基因分型。分析单个位点的等位基因和基因型频率是否与肝硬化相关,并用单倍型推测软件计算上述位点单倍型频率的分布,分析这些单倍型是否与肝硬化的发生有关。结果:在COL1A1基因启动子区的3个多态性位点中,-1662del/insT多态性在疾病组和对照组中均未发现,-1997G>T和-1363C>G多态性在疾病及正常组间没有差异,但-1997T/-1363C单倍型分布频率在疾病组中显著高于对照组(P<0.05)。结论:Ⅰ型胶原基因启动子区-1997G>T和-1363C>G多态性与肝硬化的发生可能存在一定相关性。

Objective：To investigate the association between polymorphisms in αl （ Ⅰ ） collagen （COL1A1） gene promoter region and hepatic cirrhotic/fibrotic patients with hepatitis B infection. Methods： Three polymorphisms within COL1A1 promoter region were genotyped in 111 Chinese liver cirrhotic patients with chronic HBV infection and 95 healthy controls by direct DNA sequencing. Allelic and genotypic associations of these polymorphisms with liver cirrhosis were examined. The association between haplotype distribution, haplotype frequency and liver cirrhosis was analyzed by haplotype software. Results： No polymorphisms at position-1662del/insT of COL1A1 gene were observed in subjects of both groups. There was no statistical difference in the genotype frequencies at position -1997T〉G or -1363C〉G in both groups. The frequency of haplotype -1997T/- 1363C in the diseased group was significantly higher than that in the normal control group （P〈0.05）. Conclusion： Polymorphisms in the promoter region of COL1A1 gene at position -1997T〉G, -1363C〉G might be correlated with liver cirrhosis.