维生素D受体基因多态性与1型糖尿病关联研究

Association between Vitamin D receptor gene polymorphism and type 1 diabetes in hunan hans

目的探讨汉族人群中维生素D基因FokI位点多态性与经典1型糖尿病（以下简称1型糖尿病，T1D）及其临床特征的关系。方法研究对象867例，其中1型糖尿病患者437例；非糖尿病对照430例。采用聚合酶链式反应一限制性片段长度多态性（PCR—RFLP）法检测FokI位点基因型。比较两组基因型分布和等位基因频率，分析FokI位点多态性与起病年龄、抗体阳性率及滴度、胰岛B细胞功能（空腹C肽）等临床指标的关系。结果研究对象基因型分布均符合哈迪-温伯格平衡（HWE）。FokI位点ff基因型及f等位基因在1型糖尿病组中高于对照组，但差异无统计学意义（P=0．41，0．22）。1型糖尿病患者中，谷氨酸脱羧酶抗体（GADA）、蛋白酪氨酸磷酸酶抗体（IA-2A）阳性率以及两个抗体均为阳性的概率在FF、Ff、ff三组中呈现递减趋势，但差异无统计学意义（P=0．63，0．94，0．32）；GADA抗体滴度、起病年龄与FokI位点基因型不相关；对患者起病时空腹C肽以100pmol／L为区间进行分层，基因型分布差异无统计学意义。结论在湖南汉族人群中，维生素D受体基因FokI位点多态性与1型糖尿病的发病率及其临床特征未见显著性关联。

Objective To investigate the relationship of type 1 diabetes （T1D） with single nueleo- tide polymorphism （SNP） of vitamin D receptor （VDR） coded genes in Hunan Han population. Methods A total of 867 subjects of Chinese Han origin was genotyped with polymerase chain reaction-restricted fragment length polymorphisms （PCR-RFLP）, with 437 T1D patients and 430 healthy controls. Genotype distributions and allele frequencies were analyzed between two groups. We further investigated the associa- tions of l3-cell function, age of onset, and islet autoantibodies in T1D with the polymorphisms. Results No deviations from the Hardy-Weinberg equilibrium （HWE） were observed in both study groups. In the popu- lation studied, there was no statistically significant difference in either genotype distributions or allele fre- quencies between T1D patients and healthy controls （ P 〉 0. 1, P 〉 0. 25, respectively）. Conclusions Our findings reveal no association of VDR （FokI） polymorphisms with T1D in Hunan Hans.