维生素D受体基因多态性与2型糖尿病易感性的研究  

Association between DNA polymorphism of human vitamin D receptor gene and type 2 diabetes mellitus

作　　者：李慧敏[1] 缪珩[1] 鲁一兵[1] 耿厚法[1] 蒋秀琴[1] 

机构地区：[1]南京医科大学第二附属医院内分泌科,江苏南京210011

出　　处：《中国现代医学杂志》2005年第7期989-992,共4页China Journal of Modern Medicine

摘　　要：目的研究维生素D受体(V D R)基因多态性在中国汉族人群中的分布情况,并探讨V D R基因多态性与2型糖尿病的相关性。方法采用PC R-限制性片段长度多态性方法(R FLP),比较正常中国汉族人群和2型糖尿病患者之间V D R基因多态性等位基因频率和基因型频率的差异。结果V D R基因FokI酶切位点各基因型在2型糖尿病组和正常对照组中的分布差异具有显著统计学意义(χ2=9.993,P=0.007)。两组间等位基因频率总体分布差异有显著性(χ2=7.698,P=0.006)。D M组等位基因f和基因型ff频率明显高于N组,等位基因f与2型糖尿病呈明显正关联(R R=3.9,P<0.05)。结论中国汉族人群中V D R基因多态性与2型糖尿病相关联,等位基因f是2型糖尿病的易感基因。To explore the relationship between DNA polymorphism of human vitamin D receptor (VDR) gene and type 2 diabetes mellitus within Chinese population. Among Han Chinese in Jiangsu province, 104 patients with type 2 diabetes mellitus and 77 nondiabetic subjects were collected randomly. By restriction fragment length polymorphism analysis, the alleles frequencies and genotype frequencies of VDR gene were compared between nondiabetic subjects and the patients of type 2 diabetes mellitus. The prevalence of VDR gene genotype frequencies and allele frequencies in patients with type 2 diabetes mellitus was significantly different from that in control subjects(χ2=9.993, P=0.007; χ2=7.698, P=0.006; respectively). The allele f and genotype ff were more common in patients with type 2 diabetes mellitus than in nondiabetic subjects, the relative risk (RR) was 3.9, P<0.05. [Conclusion] Polymorphism of VDR gene is associated with type 2 diabetes mellitus in Han Chinese. Allele f may be a susceptible gene contributing to the development of type 2 diabetes mellitus in Han Chinese.

关 键 词：2型糖尿病 维生素D受体 基因多态性 

分 类 号：R587.1[医药卫生—内分泌]