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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 exon 9 D358A polymorphism with type 2 diabetes mellitus (T2DM) in interleukin 6 receptor gene (IL6R) in Hubei Han population. Methods: Two experimental designs of case-sibling control and randomized case-control were employed. The exon 9 of IL6R gene in 571 samples was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) D358A polymorphism analysis. Results: In all samples and two experimental designs, there was significant difference in genotype frequency between case group and control group (P <0.05). In all sample and random sample design, the frequency of C allele in T2DM group was significantly lower than that in control group P <0.05). No significant differences were found in the sample design of case-siblings (P> 0.05). Logistic regression analysis showed that CC genotype was significantly associated with T2DM (P <0.05). CONCLUSION: In the Chinese Han population of Hubei province, the D358A polymorphism of exon 9 of IL6R gene is associated with type 2 diabetes mellitus, and CC genotype is a protective factor of T2DM.