新疆维、汉、哈族妊娠期糖尿病相关遗传基因分析及与临床资料相关性研究  

Genetic analysis of gestational diabetes mellitus in Xinjiang,Han and Kazakans and Correlation with clinical data

作　　者：丁桂凤 段茉莉 李惠敏 肖璐 刘利萍 DING Gui-feng;DUAN Mo-li;LI Hui-min;XIAO Lu;LIU Li-ping(Maternal and Child Health Care Hospital of Urumqi,Obstetrics and Gynecology 830001;Urumqi,MCH 830001)

机构地区：[1]乌鲁木齐市妇幼保健院产科,830001 [2]乌鲁木齐市妇幼保健院中医妇科,830001

出　　处：《中国优生与遗传杂志》2018年第7期65-68,共4页Chinese Journal of Birth Health & Heredity

基　　金：新疆自治区自然科学基金资助项目<新疆维;汉;哈族妊娠期糖尿病相关遗传基因分析>;项目编号:201442137-18

摘　　要：目的探讨新疆维、汉、哈族妊娠期糖尿病相关遗传基因分析及与临床资料的相关性分析。方法选择2015年6月-2017年9月新疆地区孕妇526例(汉族207例,维吾尔族169例,哈萨克族150例),根据妊娠期是否伴有妊娠期糖尿病分为病例组(n=214例)和对照组(n=312例)。入选既往全基因组关联研究报道且在汉族人群中验证40个2型糖尿病易感基因及11个糖代谢指标相关的遗传位点,应用Mass ARRAY平台进行基因分型,采用SPSS Pearson相关性分析软件对候选多态性位点与汉族、维族、哈族GDM及临床资料的相关性进行分析。结果病例组年龄、BMI、空腹血糖、1h血糖、2h血糖、糖化血红蛋白水平、甘油三酯、高密度水平,均高于对照组(P<0.05);病例组低密度水平,低于对照组(P<0.05);相关性分析结果表明:汉族人GDM发生率与候选位点基因型和等位基因频率rs12571751关系密切(P<0.05);维吾尔族GDM发生与rs2796441和rs1359790关系密切(P<0.05);哈萨克族GDM发生与rs2010963、rs3025039基因无统计学意义(P>0.05)。结论汉族和维族人群GDM发生的遗传背景存在差异性,ZMIZ1可能是影响汉族人群GDM发生的易感基因,PPARG和CDKN2A/B可能是影响维族人GDM发生的易感基因,其相关性仍有待更大样本研究验证。Objective：To investigate the genetic analysis of gestational diabetes mellitus（DM）in Xinjiang,Han and Kazakans and their correlation with clinical data. Methods：526 pregnant women（207 Han,169 Uygur and 150 Kazakh）were selected from June 2015 to September 2017 in Xinjiang. According to whether pregnant women with gestational diabetes were divided into two groups（n=214 Cases）and control group（n=312 cases）. Selected from previous genome-wide association studies and 40 susceptible genes of type 2 diabetes mellitus and 11 glycometabolism-related genetic loci in Han population,genotyping was performed using the Mass ARRAY platform,and SPSS Pearson correlation analysis software was used to identify candidates Polymorphic loci and Han,Uygur,Ha ethnic GDM and clinical data were analyzed. Results：The age,BMI,fasting blood glucose,1 h blood glucose,2 h blood glucose,glycosylated hemoglobin,triglyceride and high density were higher in the case group than in the control group（P〈0.05）（P〈0.05）. The results of correlation analysis showed that the prevalence of GDM in Han people was closely related to the genotype and allele frequencies of candidate loci rs12571751（P〈0.05）,and the Uygur GDM was closely related to rs2796441 and rs1359790（P〈0.05）. There was no significant difference between Kazak GDM and rs2010963 and rs3025039（P〈0.05）. Conclusion：The genetic background of GDM in Han and Uygur populations is different. ZMIZ1 may be a susceptibility gene to GDM in Han population. PPARG and CDKN2 A/B may be susceptibility genes to Uighur GDM Larger sample studies validate.

关 键 词：汉、维、哈族人群 妊娠期糖尿病 相关遗传基因 相关性分析 

分 类 号：R587.1[医药卫生—内分泌]