上海交通大学学报(医学版)

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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

葛晓旭,李鸣,李灿,张荣,庄兰艮,赵蔚菁,郑泰山,殷峻,刘丽梅   

  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
  • 出版日期:2016-07-28 发布日期:2016-08-31
  • 通讯作者: 刘丽梅, 电子信箱: lmliu@sjtu.edu.cn。
  • 作者简介:葛晓旭(1991—), 女, 硕士生; 电子信箱: gexiaoxu1103@163.com。
  • 基金资助:

    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)

Association between -23A/T variation of insulin gene and early-onset type 2 diabetes mellitus in Shanghai Han population

GE Xiao-xu, LI Ming, LI Can, ZHANG Rong, ZHUANG Lan-gen, ZHAO Wei-jing, ZHENG Tai-shan, YIN Jun, LIU Li-mei   

  1. Shanghai Diabetes Institute, Department of Endocrinology and Metabolism, Shanghai Sixth Peoples Hospital, Shanghai Jiao Tong University, Shanghai 200233, China
  • Online:2016-07-28 Published:2016-08-31
  • Supported by:

    National Nature Science Foundation of China, 81471012,81270876, 30771022; Shanghai Leading Talent, SJL15055; Program of Education Research from Shanghai Jiao Tong University School of Medicine, 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%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。

关键词: 胰岛素基因, -23A/T变异, 早发2型糖尿病

Abstract:

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.

Key words: insulin gene, -23A/T variation, early-onset type 2 diabetes mellitus