糖尿病分子生物学和遗传学

     【摘要】 目的 探讨脂代谢相关microRNA靶基因结合位点多态性与T2DM遗传易感性的关系。 方法 采用病例-对照研究，针对生物信息学预测筛选的脂代谢相关microRNA靶基因结合区8个多态性位点(SNPs)，应用Taqman-MGB探针技术，检测全部研究对象(T2DM患者874例，正常对照者896名)SNP位点的基因型，分析其不同基因型在中国东南方汉族人群中频率的分布及其与T2DM的关系。 结果 校正年龄、性别、WC后， CBY1基因的rs1065201(T>C)与T2DM的发生呈现正相关[OR(95%CI)为1.51(1.13~2.01)]。 结论 脂代谢相关microRNA靶基因结合区域多态性与T2DM遗传易感性存在相关性，但有待在更多的人群中得到重复验证以及功能性研究的支持，进一步验证其病因联系。

　　【关键词】糖尿病, 2型;微RNAs;靶基因结合区域;多态性，单核苷酸

　　【Abstract】 Objective To explore the relationship between lipid metabolism related miRNA binding sites polymorphisms and the susceptibility of type 2 diabetes. Methods A case-control study was conducted in Chinese Southeast Han population. Bioinformatics softwares were used to predict the target sites of lipid metabolism-related miRNAs. After screening, 8 candidate SNPs in miRNA target sites were selected. By utilizing TaqMan® assay detection technology， the genotype of SNPs in all subjects( 874 T2DM patients，896 health controls) were detected and the association between different genotypes and T2DMsusceptibility was analyzed. Results After adjusting for age, gender, waist circumference and Bonferroni correction, rs1065201 in CBY1 gene (T> C) had positive association with the risk of T2DM [OR (95% CI) =1.51(1.13~2.01)]. Conclusion Polymorphisms in lipid metabolism-related miRNA binding sites are associated with the susceptibility of T2DM，but the etiology requires further validation.

　　【Key words】Diabetes mellitus，type 2;microRNAs;Target binding sites;Polymorphism, single Nucleotide