蒙古族2型糖尿病人群脂肪细胞因子易感基因—环境交互作用研究

Type 2 diabetes mellitus (T2DM) is one of the world's major diseases that threaten human health, but also it is an important risk factor for many diseases, and its pathogenesis is not fully known yet. Currently, T2DM is a complex character polygenic disease which is induced by.multi-heredity and environment factors .This study use a cross-sectional investigation method, with the multistage stratified sampling, we.randomly selected Mongolian population from the Inner Mongolia autonomous that residing in the pastoral areas, agriculture and the city.So ,we will master prevalence and distribution characteristics for people with T2DM and the DM precancerous disease ,and explore.environmental risk and protective factors in the Mongolian population in Inner Mongolia . In addition, the levels of adiponectin, leptin and resistin will be detect in T2DM by ELISA method .Meanwhile, the level of adiponectin gene, resistin gene and the SNP polymorphism site of leptin gene will be detect by mass spectrometry, so as to discuss the effect of adipocytokines and SNP causing T2DM in Mongolian population. Meanwhile,we will combine the environmental risk factors associating with T2DM , and to discuss the effects of interaction from gene and environment. The goal is scientific interventions and policy will be provide through epidemiology material on T2DM in Mongolian people and the clues of causing T2DM in Mongolian population.

2型糖尿病（T2DM）是当今世界威胁人类健康的重要疾病之一，也是许多疾病的重要危险因素，其发病机制至今不明。目前认为它是一种由遗传因素和环境因素共同作用所致的复杂性疾病。本研究拟运用现场横断面调查方法，采用多阶段分层整群随机抽样方法抽取内蒙古自治区牧区、农区、城区的三代纯系蒙古族人群，掌握人群T2DM、DM前期患病率和疾病分布特点，探寻内蒙古地区蒙古族人群T2DM环境危险因素和保护素；采用ELISA方法检测人群脂肪细胞因子脂联素、抵抗素、瘦素血清表达水平，运用质谱法检测人群脂联素基因、抵抗素基因、瘦素受体基因SNP位点多态性，探讨脂肪细胞因子水平及其单核苷酸多态性在蒙古族人群2型糖尿病发生中的作用，同时纳入与2型糖尿病发生相关的环境危险因素，进行基因-环境交互作用研究。旨在人群流行病学资料基础上探讨蒙古族2型糖尿病的病因线索，为制定蒙古族相关干预政策及措施提供科学依据。

2型糖尿病(T2DM)是当今世界威胁人类健康的重要疾病之一，也是许多疾病的重要危险因素。它是一种由遗传因素和环境因素共同作用所致的复杂疾病。本研究运用了现场横断面调查方法，采用多阶段分层整群随机抽样方法抽取内蒙古自治区牧区、农区、城区的三代纯系蒙古族人群，掌握人群T2DM、DM前期患病率和疾病分布特点，探寻内蒙古地区蒙古族人群T2DM环境危险因素和保护因素；采用ELISA方法检测人群脂肪细胞因子脂联素(ADIPOQ)、抵抗素(RETN)、瘦素(LEPR)血清表达水平，运用iMLDR法检测人群ADIPOQ、RETN、LEPR、ADIPOR、SLC30A8、CDKAL1、KCNQ1、vaspin基因SNP位点多态性，探讨SNP在蒙古族T2DM发生中的作用，同时GMDR法进行基因-基因、基因-环境交互作用研究。主要结果：（1）三个地区共调查2525例蒙古族居民，最终纳入2336名合格蒙古族受试者，T2DM总体患病率10.5%，糖尿病前期患病率8.9%，糖尿病知晓率67.1%，治疗率49.0% ，控制率30.9%；牧区患病率最低，农区最高。（2）男性、老年、居住在农村、有糖尿病家族史、超重或肥胖、患有高血压或血脂异常均与糖尿病高风险显著相关，而从事中等或高强度身体活动的人患糖尿病的风险较低。（3）ADIPOQ、RETN、LEPR血清水平T2DM组与对照组无差异，空腹血糖与ADIPOQ水平呈负相关；（4）八个基因25个位点SNP检测后，RETNrs1862513、CDKAL1 rs10946398、rs35612982、rs9465871位点基因频率分布在两组间存在差异；ADIPOQ与vaspin、RETN与vaspin、RETN与KCNQ1交互作用可能会增加2型糖尿病的发病风险；ADIPOQ rs2241767位点与睡眠及糖尿病家族史模型、RETN rs1862513位点与活动及糖尿病家族史模型、ADIPOQR rs11061971位点与吸烟及糖尿病家族史模型，LEPR rs3790433、rs2211651位点、活动、高血压家族史及糖尿病家族史模型均有统计学意义。本项目获得了蒙古族人群T2DM现患率和DM前期患病率及该病的危险因素和保护因素，为制定蒙古族相关干预政策及措施提供了科学依据；蒙古族人群T2DM患病率较高，应加强宣传教育、糖尿病筛查和诊断及糖尿病患者管理工作。