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

作　　者：葛晓旭[1] 李鸣[1] 李灿[1] 张荣[1] 庄兰艮[1] 赵蔚菁[1] 郑泰山[1] 殷峻[1] 刘丽梅[1] 

机构地区：[1]上海交通大学附属第六人民医院内分泌代谢科,上海市糖尿病研究所,上海200233

出　　处：《上海交通大学学报（医学版）》2016年第7期1005-1010,共6页Journal of Shanghai Jiao tong University:Medical Science

基　　金：国家自然科学基金(81471012,81270876,30771022);上海领军人才(SLJ15055);上海交通大学医学院教育研究课题(YB150612)~~

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％c，1．19～6．47）；P=0．009，OR=2．86（95％C11．26～6．46）]。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B细胞功能指数（HOMA—p）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8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, 0R=2.77 （950/0 CI1.19-6.47）; P=0.009, 0R=2.86 （95% CI1.26--6.46）]. In the case group, the fasting serum insulin （FINS） and HOMA-[3 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 B-cell hypofunction in Chinese population with early-onset T2DM.

关 键 词：胰岛素基因 -23A/T变异 早发2型糖尿病 

分 类 号：R587.1[医药卫生—内分泌]