白细胞介素6受体基因D358A多态与2型糖尿病的关联研究

Association Studies of the IL6R D358A with Type 2 Diabetes in Han Chinese Population of Hubei

目的:探讨湖北汉族人群中白细胞介素6受体基因(interleukin 6 receptor gene,IL6R)第9外显子D358A多态与2型糖尿病(type 2 diabetes mellitus,T2DM)的关联。方法:采取病例-同胞对照和随机病例-对照两种实验设计,应用聚合酶链反应-限制性酶切片段长度多态性(PCR-RFLP)方法,对571例样本IL6R基因第9外显子D358A多态进行分析。结果:在所有样本及两种实验设计中,病例组与对照组基因型频率存在显著差异(P<0.05),所有样本和随机样本设计中,T2DM组C等位基因频率显著低于对照组(P<0.05),病例-同胞对样本设计中未发现显著差异(P>0.05)。单因素Logistic回归分析发现,CC基因型与T2DM显著相关(P<0.05)。结论:在中国湖北汉族人群中,IL6R基因第9外显子D358A多态性与2型糖尿病相关联,CC基因型是T2DM的保护因子。

Objective： To investigate the association of D358A polymorphism in exon 9 of interleukin 6 receptor gene （IL6R）and the susceptibility of type 2 diabetes mellitus （T2DM） in Chinese Han subjects from Hubei province. Methods： 571 subjects were detected for the IL6R D358A polymorphism. Both sib-pair case-control and random case-control designs were used. Polymerase chain reaction-restriction fragment length polymorphisms （PCR-RFLP） were employed to screen the polymorphism. Results： The genotype frequencies differed significantly between T2DM and control groups in three designs （P〈0.05）. The frequencies of C allele for T2DM patients were significantly lower than those for controls in all subjects and unrelated case-control designs （P〈0.05）, while there was no significant difference between T2DM and control groups sib-pair design. The result of logistic regression analysis in all subjects suggested that CC genotype was significantly associated with T2DM （P〈0.05）. Conclusions： The IL6R D358A is correlated with type 2 diabetes in Han Chinese population of Hubei and the CC genotype is a genetic preventive factor of T2DM.