甲烯四氢叶酸还原酶基因多态性与2型糖尿病的关系

目的:探讨中国人群2型糖尿病患者中甲烯四氢叶酸还原酶(MTHFR)基因多态性与2型糖尿病发病的关系.方法:采用PCR技术和限制性内切酶片段长度多态性 (RFLP) 的方法检测患者的MTHFR基因677C→T突变,统计各组对象的突变频率. 结果:MTHFR基因677C→T突变型等位基因(T)频率在病例组和对照组中差异无显著性(χ2=2.29,P>0.05),TT、CT和CC 3种基因型频率差异无显著性.基因型频率的相对风险分析,CT基因型患2型糖尿病风险是CC基因型的1.96倍,TT基因型患2型糖尿病风险是CC基因型的2.57倍.结论:MTHFR基因突变型等位基因与2型糖尿病发生无必然的联系,突变基因型并没有增加2型糖尿病的发病风险.

The relationship between the polymorphysm of MTHFR gene and type 2 diabetes mellitus

Objective:To investigate the relationship between one of the crucial enzymes during the metabolization of homocysteine polymorphism of methylenetetrahydrofolate reductase (MTHFR) and type 2 diabetes mellitus in Chinese population. Methods:The method of PCR restrictive fragment length polymorphism (RFLP) was conducted to examine the 677 C→T mutation of MTHFR gene, and then the frequency of mutation was statistically computed. Results:The allelic frequency of MTHFR677 C→T mutation was no remarkable different between the case and the control groups, and the frequency of the three genetic types was no markedly different between the diabetics and non diabetics. The relative risk suffered from type 2 diabetes mellitus of CT genotype was 1 96 times of the CC genotype, and the TT genotype was 257 times of the CC genotype. Conclusion: There is no remarkable relationship between the allelic gene of mutation of MTHFR gene and type 2 diabetes mellitus, and the genetic type mutation did not increase the risk suffered type 2 diabetes mellitus.