维生素D受体基因多态性与肝纤维化关系初步研究

The relationship between vitamin D receptor gene polymorphism and liver fibrosis

目的探讨维生素受体(VDR)基因多态性与中国汉人肝纤维化的关系。方法采用聚合酶链反应-限制性长度多态性(PCR-RFLP)方法测定122例乙型肝炎肝纤维化、87例慢性乙型肝炎非肝纤维化患者和61例健康对照者VDR基因多态性,观察其与肝纤维化关系,分析血清肝纤维化标志物、生物化学指标与比较VDR基因型的关系。结果肝纤维化组aa基因型频率和a等位基因频率均高于非肝纤维化组和健康对照组,差异有统计学意义(P<0.01),健康对照组与非肝纤维化组VDRaa基因型频率比较无统计学意义(P>0.05)。未发现VDR基因多态性与肝纤维化标志物、肝功能有关。多因素logistic回归分析显示a等位基因是肝纤维化独立的危险因素。结论VDR基因多态性与中国人肝纤维化发病存在基因连锁,a等位基因可能是慢性乙型肝炎进展为肝纤维化的危险因素。

Objective To study the association between vitamin D receptor （VDR） gene polymorphism and liver fibrosis of chronic hepatitis B （CHB） in Chinese Han population. Methods PCR-RELP was used to investigate the VDR gene polymorphisms in 122 CHB patients with liver fibrosis, in 87 CHB patients without liver fibrosis, and 61 healthy subjects served as control group. VDR polymorphisms were assessed by Apa I endonuclease restriction fragment length polymorphism analysis, after specific polymerase chain reaction （PCR） amplification. Serum fibrotic markers and biochemical parameters were detected. Results There was significant higher frequency of a allele expressed and percentage of aa phenotype in patients with liver fibrosis compared to patients without liver fibrosis and healthy controls（P〈0.05）, while there was no significant difference between patients without liver fibrosis and healthy controls （P〉0.05）. No association was found between VDR gene polymorphism and serum fibrotic markers and biochemical parameters. Multi-factor logistic regression show that the VDRa allele might serve as an independent risk factor for liver fibrosis. Conclusion There is a significant association between Apa I polymorphism and liver fibrosis in Chinese Han population, and allele VDRa might be a risk faetor of liver fibrosis for chronic hepatitis B patients.