SREBP-1c基因54G/C单核苷酸多态性与2型糖尿病的关系

目的探讨中国湖北地区汉族人群固醇调节元件结合蛋白-1c(SREBP-1c)基因外显子18c 54G／ C单核苷酸多态性(single nucleotide polymorphism,SNP)与2型糖尿病之间的关系。方法采用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)方法,对105例正常对照者和93例2型糖尿病患者SREBP-1c基因外显子18c 54G／C SNP进行检测,比较2组基因型和等位基因频率。结果①正常对照组C等位基因频率为69．0％,2型糖尿病组为59．1％,2组间有显著性差异(x2=4．22,P<0．05);2组的基因型频率未见显著性差异(x2=4．35,P>0．05)。②湖北地区汉族正常人群SREBP-1c基因54G／C基因型频率及等位基因频率分布与法国人和瑞士人相比未见显著性差异(P>0．05)。结论 SREBP-1c基因外显子18c 54G／C单核苷酸多态性与2型糖尿病相关,C等位基因可能是2型糖尿病发生发展的保护性因素。

Association of the 54G/C Single Nucleotide Polymorphism of Sterol Regulatory Element Binding Proteins-1c with Type 2 Diabetes Mellitus

Objective To explore the relationship between the 54G/C single nucleotide polymorphism of exon 18c of sterol regulatory element binding proteins-1c and type 2 diabetes mellitus in Chinese Han population from Hubei province. Methods The 54G/C SNP of SREBP-1c gene was identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 105 unreleated healthy controls and 93 patients with type 2 diabetes mellitus, and the frequencies of genotype and allele were compared in the two groups. Results (1)In the healthy controls the C allelic frequency is 69.0%, and it is 59.1% in type 2 diabetes patients, there was significant difference between the two groups(x2 = 4.22, P < 0.05); there was no significant difference in the genotype frequency between the two groups (x2 = 4.35, P > 0.05). (2)There were no significant differences in the frequencies of genotype and allele between Chinese and French, Swiss(P > 0.05). Conclusion The 54G/ C SNP of SREBP-1c gene is associated with type 2 diabetes mellitus in Chinese Han population from Hubei province, the C allele may play a role in the development and progression of type 2 diabetes mellitus.