维生素D受体基因FokI多态性与糖尿病视网膜病变的相关性研究  

Relationship between Vitamin D receptor gene FokI polymorphism and diabetic retinopathy in China

作　　者：侯丽君[1] 黄东辉[1] 韩静静[1] 

机构地区：[1]泰山医学院附属医院内分泌科,山东泰安271000

出　　处：《泰山医学院学报》2015年第5期490-493,共4页Journal of Taishan Medical College

摘　　要：目的探讨维生素D受体（VDR）基因Fok I多态性与糖尿病视网膜病变（DR）的关系。方法按1999年WHO糖尿病（DM）诊断及分型标准,选取无亲缘关系的汉族2型糖尿病患者254例,分为单纯2型糖尿病（DM）组、非增殖性视网膜病变（NPDR）组、增殖性视网膜病变（PDR）组,选取健康人群120例为对照组（NC）。采用PCR-RFLP方法确定受试者的VDR基因Fok I基因型,对不同组间的临床与生化指标及VDR基因Fok I多态性进行统计分析。结果 NPDR组和PDR组的ff基因型频率显著高于DM组（χ2=7.49,4.448,P〈0.05）,NPDR组和PDR组的f等位基因频率显著高于DM组（χ2=8.333,5.227,P〈0.05）;NPDR组和PDR组的ff基因型频率显著高于NC组（χ2=9.934,4.899,P〈0.05）;,NPDR组和PDR组的f等位基因频率显著高于NC组（χ2=10.895,5.714,P〈0.05）,而NPDR和PDR组（Ff＋FF）基因型频率显著低于NC组（χ2=9.934,10.895,P〈0.05）、NPDR和PDR组F等位基因频率显著低于NC组（χ2=4.899,5.714,P〈0.05）;NPDR和PDR组（Ff＋FF）基因型频率显著低于DM组（χ2=7.490,8.333,P〈0.01;NPDR和PDR组F等位基因频率显著低于DM组（χ2=4.448,χ2=5.227,P〈0.05）;DR的多重危险因素分析示低密度脂蛋白胆固醇（LDL-C）、总胆固醇（TC）和糖化血红蛋白（Hb A1c）与DR的患病率呈正相关,而VDR基因Fok I多态性与DR发病危险呈负相关（β=-1.027,OR=0.343,P〈0.01,CI：0.157~0.723）。结论中国汉族人群中存在VDR基因Fok I多态性,f基因可能是中国汉族糖尿病患者易于发生DR的危险遗传性标志。Objective：To study the Vitamin D receptor gene FoKI polymorphism in Chinese Han population and to ana-lyze the relationship between the polymorphism and diabetic retinopathy（ DR）. Methods：Two hundred and fifty four pa-tients with type 2 diabetes mellitus recruited in this study were divided into NPDR group（ non-proliferative diabetic reti-nopathy）,PDR group（ proliferative diabetic retinopathy）and DM（ diabetes without retinopathy）group. The normal con-trol group consisted of 120 subjects. Genotypes were identified by PCR-RFLP among all the subjects,while other clinical parameters were measured. Serum levels of 25-（ OH）VD3 were tested by the method of ELISA. Results：The frequencies of both genotype ff and allele f were significantly higher in the NPDR group and the PDR group than those in the NC group （χ2 = 9. 934,4. 899,P〈0. 05;χ2 =10. 895,5. 714,P〈0. 05）and the DM group（χ2 = 7. 49,4. 448,P〈0. 05;χ2 =8. 333,5. 227,P〈. 05）. However,the frequencies of genotype（Ff ＋ FF）and allele F were significantly lower in the NPDR group and the PDR（χ2 =7. 490,8. 333,P〈0. 01 and χ2 =4. 448,5. 227,P〈0. 05）. Multivariate logistic regression analy-sis showed that the levels of glycohemoglobin（HbA1c）,total cholesterol,low-density lipoprotein cholesterol presented a positive correlation with DR respectively,and the Vitamin D Receptor Gene FoKI Polymorphism exhibited a negative correla-tion with DR（β= -1. 027,OR=0. 343,P〈0. 01,CI：0. 157~0. 723）. Conclusion：There is the presence of the VDR gene FoKI polymorphism in the Han population in China,while allele f may be a protective genetic marKer of DR.

关 键 词：VDR基因多态性 25羟基维生素D3 糖尿病视网膜病变 

分 类 号：R587.2[医药卫生—内分泌]