【摘要】 目的探讨胰岛素基因(INS基因)-23A/T变异与早发2型糖尿病(T2DM)发病的关系。方法选取上海地区汉族116例早发T2DM患者(病例组)和135例非糖尿病对照者(对照组)作为研究对象。采用PCR直接测序法检测INS-23A/T变异,分析组间基因型、等位基因频率分布及其他临床变量间的差异。结果与对照组相比,病例组AA基因型和A等位基因频率显著增高[P=0.015,OR=2.77(95%CI 1.19~6.47);P=0.009,OR=2.86(95%CI 1.26~6.46)]。在病例组,与AT型相比,AA型携带者的空腹胰岛素(FINS)和稳态模型评估的胰岛β细胞功能指数(HOMA-β)明显降低(均P<0.05)。结论上海地区汉族人群中INS-23A/T变异的A等位基因与早发T2DM患者FINS分泌显著相关,是T2DM早发的风险因素。INS基因-23A/T变异可能成为预测中国人早发T2DM人群中β细胞功能衰退的潜在遗传标记。更多还原

【Abstract】 Objective To explore the association between-23 A / T variation of insulin gene( INS gene) and earlyonset type 2 diabetes mellitus( T2DM). Methods A total of 116 Han patients with early-onset T2DM( the case group) and 135 non-diabetic controls( the control group) in Shanghai were enrolled. The-23 A / T variation of INS gene was detected with PCR-direct sequencing. Differences in frequencies of genotypes and alleles of-23 A / T, as well as other clinical variables between two groups were analyzed. Results AA genotypic and A allelic frequencies significantly increased in the case group compared with the control group [P = 0. 015, OR = 2. 77( 95% CI 1. 19-6. 47); P = 0. 009, OR = 2. 86( 95% CI 1. 26- 6. 46) ]. In the case group, the fasting serum insulin( FINS) and HOMA-β levels of subjects carrying AA genotype were significantly lower than those of subjects carrying AT genotype( both P < 0. 05). Conclusion The A allele of-23 A / T variation of INS gene is significantly associated with the FINS in patients with early-onset T2 DM and is a risk factor for early-onset T2 DM in Shanghai Han population. The INS gene-23 A / T variation may be a potential genetic marker for predicting islet β-cell hypofunction in Chinese population with early-onset T2 DM.更多还原