维生素D受体基因多态性与酒精性肝病的相关性  

Relationship between vitamin D receptor gene polymorphisms and alcoholic liver disease

作　　者：孙平[1] 王沁[1] 

机构地区：[1]兰州大学第一医院消化科,甘肃省兰州市730000

出　　处：《世界华人消化杂志》2009年第3期273-278,共6页World Chinese Journal of Digestology

基　　金：甘肃省科技攻关资助项目;No.2GS054-A43-014-26~~

摘　　要：目的:探讨维生素D受体(vitamin Dreceptor VDR)基因多态性与酒精性肝病易感性之间的关系.方法:采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:共检出3种VDR基因型,即BB、Bb、bb.病例组bb基因型频率显著高于对照组(χ2=7.16,P=0.028,OR=2.698,95%CI1.167-6.235);b等位基因的频率病例组显著高于对照组(χ2=11.64,P=0.001,OR=3.07195%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因素(OR=2.272,OR95%CI:0.971-5.318).结论:维生素D受体基因BsmⅠ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.AIM： To investigate the relationship between vitamin D receptor gene polymorphism and susceptibility to alcoholic liver disease （ALD）. METHODS： The Semi-nested PCR-restriction fragment length polymorphism （semi-nested PCR-RFLP） technology was used to analyze 50 ALD patients and 72 healthy controls. Comparison was made between the two groups in genotype frequencies, allele frequencies, and finally a correlation analysis was performed. RESULTS： We found three genotypes in the case group and control group, that is, BB, Bb and bb. The bb genotype frequency and b allele frequency were significantly higher in case group than in control group （χ^2 = 7.16, P = 0.028, OR = 2.698, 95% CI： 1.167-6.235; χ^2= 11.64, P = 0.001, OR = 3.071, 95% CI： 1.583-3.958）. Multifactor unconditional Logistic regression analysis showed cases carrying bb genotype were more likely to develop into the ALD, indicating that bb genotype might be a genetic risk factor in ALD （OR = 2.272, OR 95% CI： 0.971-5.318）. CONCLUSION： The vitamin D receptor gene Bsm Ⅰ site polymorphism is strongly associated with the ALD, and bb genotype may be a risk factor for development ALD.

关 键 词：半巢式PCR—RFLP 维生素D受体 多态性 酒精性肝病 

分 类 号：R575[医药卫生—消化系统]