【作者】 孙平；

【导师】 王沁；

【作者基本信息】 兰州大学 ， 内科学， 2009， 硕士

【摘要】 目的:探讨维生素D受体(Vitamin D Receptor,VDR)基因多态性与酒精性肝病易感性之间的相关性,期望为酒精性肝病的防治工作提供分子生物学依据。方法:采用病例对照研究和分子生物学相结合的方法,应用半巢式聚合酶链式反应.限制性片段长度多态性(semi-nested PCR-RFLP)技术检测50例酒精性肝病患者和72例健康志愿者VDR多态性的基因型,并比较甘肃汉族人群和酒精性肝病患者之间VDR基因多态性、基因型频率、等位基因频率的差异与酒精性肝病相关性的分析。结果:采用PCR-RFLP技术共检出3种VDR基因型,BB、Bb、bb。经Hardy-Weinberg遗传平衡检验,发现两组的等位基因分布符合此遗传平衡定律。BB、Bb、bb基因型在病例组和对照组中的分布频率分别为8.0%、12.0%、80.0%和26.4%、13.9%、59.7%。B、b等位基因在病例组和对照组中的分布频率分别为14.0%、86.0%和33.3%、66.7%;两组相比较,病例组bb基因型频率显著高于对照组(x~2=7.16,P=0.028,OR=2.698、95%CI:1.167～6.235);b等位基因的频率病例组显著高于对照组(x~2=11.64,P=0.001,OR=3.071、95%CI:1.583～3.958)。通过多因素非条件Logistic回归模型,发现携带bb基因型的个体暴露于酒精后容易发展成酒精性肝病,bb基因型可能是酒精性肝病发生的一种易患基因型(OR=2.272,OR 95%CI:0.971～5.318)。结论:维生素D受体基因Bsml酶切位点基因型与酒精性肝病之间存在相关性,bb基因型可能是酒精性肝病发生的一种易患基因型。更多还原

【Abstract】 AIM: To investigate the relationship between vitamin D receptor gene polymorphism and susceptible to alcoholic liver disease (ALD), and expect to provide evidence of molecular biology for the prevention and treatment of alcoholic liver disease.METHODS: The Semi-nested PCR-restriction fragment length polymorphism (semi-nested PCR-RFLP) technology was used to analyze 50 cases of alcoholic liver disease patients and 72 healthy controls of the VDR genotype, genotype frequencies, allele frequencies, and finally carried out a correlation analysis.RESULTS: We found three genotypes in the patients group and controls group, BB, Bb and bb. Through the Hardy-Weinberg equilibrium genetic testing, two groups of allele distribution meet with Hardy-Weinberg genetic balance law. In the case group, BB, Bb and bb genotype frequencies were accounted for 8.0%, 12.0% and 80.0%. B, b allele frequencies were accounted for 14.0%, 86.0%; in the control group, BB, Bb and bb genotype frequencies were accounted for 26.4%, 13.9% and 59.7%. B, b allele frequencies were accounted for 33.3%, 66.7%. The case group compared with the control group, genotype and allele frequencies of the distribution between the case group and the control group was significantly difference, in the case group, bb genotype frequency increased significantly, x~2=7.16, P=0.028, OR =2.698, 95%CI: 1.167-6.235; b allele frequency increased significantly, x~2=11.64, P=0.001, OR =3.071, 95%CI: 1.583-3.958. Through a multi-factor unconditional Logistic regression model, found carrying bb genotype of the individual can easily develop into the ALD, bb genotype may be a kind of genetic risk factor in ALD , OR = 2.272, OR 95% CI: 0.971-5.318. The survey results are statistically significant, P <0.05.CONCLUSON: The vitamin D receptor gene Bsm1 sites polymorphism is strongly associated with the ALD, bb genotype may be a risk factors contributing to the development of ALD.更多还原