上海地区汉族人胰岛素基因-23A/T变异与早发2型糖尿病发病的相关性
Association between -23A/T variation of insulin gene and early-onset type 2 diabetes mellitus in Shanghai Han population

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 explore the association between -23A/T variation of insulin gene (INS gene) and early-onset 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 -23A/T variation of INS gene was detected with PCR-direct sequencing. Differences in frequencies of genotypes and alleles of -23A/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 -23A/T variation of INS gene is significantly associated with the FINS in patients with early-onset T2DM and is a risk factor for early-onset T2DM in Shanghai Han population. The INS gene-23A/T variation may be a potential genetic marker for predicting islet β-cell hypofunction in Chinese population with early-onset T2DM