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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。
Objective To investigate the relationship between insulin gene (INS) -23A / T mutation and the incidence of type 2 diabetes mellitus (T2DM). Methods A total of 116 early-onset T2DM patients (case group) and 135 non-diabetic control subjects (control group) were enrolled in this study. The PCR-direct sequencing was used to detect the variation of INS-23A / T, and to analyze the differences in genotype, allele frequency distribution and other clinical variables. Results Compared with the control group, the frequency of AA genotype and A allele were significantly increased in case group (P = 0.015, OR = 2.77, 95% CI 1.19-6.47; P = 0.009, OR = 6.46)]. In the case group, fasting insulin (FINS) and homeostasis model assessment of islet β-cell function index (HOMA-β) were significantly lower in patients with AA than those in AT (all P <0.05). Conclusion The A allele of INS-23A / T mutation in Shanghai Han population is significantly associated with FINS secretion in early-onset T2DM patients and is a risk factor for early onset of T2DM. The INS-23A / T mutation may be a potential genetic marker for predicting the decline of beta-cell function in Chinese population of early-onset T2DM.