Objective To elucidate the influence of fetal genotype in both non-diabetic gravidas and pregnant women on gestational diabetes mellitus (GDM) through analysis of the genotype discrepancy between maternal and fetal Pro12A1a single nucleotide polymorphism (SNP) of peroxisome proliferator-activated receptor gamma 2 (PPARG2) genes.Methods Pregnant women,who delivered in the Obstetrics and Gynecology Hospital of Fudan University from October 2005 to February 2007,and their newborn babies were selected,and were divided into GDM and control group.The GDM group consisted of 55 gravidas with GDM and 40 newborns born to the GDM mothers,and the control group consisted of 173 healthy gravidas and their 50 neonates.Polymerase chain reaction-denaturing high-performance liquid chromatography was applied to detect the distribution of PPARG2 Pro12Ala alleles in all subjects.The concentrations of plasma fasting blood sugar (FBS) and several bio-markers of lipids,including total cholesterol,triglyceride,apoprotein A,high-density lipoprotein and low-density lipoprotein,were also tested for the mothers.Results (1) No significant difference was found in the frequencies of Pro/Pro genotype between the GDM mothers and control mothers (94.6% vs 90.8%,P > 0.05),nor between the GDM offspring and control offspring (95.0% vs 94.0%,P >0.05) or between the GDM mothers and GDM offspring (P > 0.05).The same was shown in the frequencies of Pro/Ala genotype both between the GDM mothers and control mothers (5.5% vs 9.2%,P >0.05) and between the GDM offspring and control offspring (2.5% vs 3.0%,P > 0.05).(2) Within both GDM and control group,the maternal FBS and various lipids concentrations of Pro/ Pro genotype gravidas showed no significant difference compared to those of Pro/Ala genotype mothers (P > 0.05).(3) Based on the four possible PPARG2 genotype pairs between the mothers and fetuses,Pro/Pro mother and her Pro/Pro fetus,Pro/Ala mother and her Pro/Ala fetus,Pro/Ala mother and her Pro/Pro fetus,and Pro/Pro mother and her Pro/Ala fetus,less Pro/Pro pairs and more Pro/Ala pairs were found in the GDM group than in the control (72.5% vs 92.0%,P=0.014; 27.5% vs 6.0%,P< 0.05).Conclusions Neither the maternal nor the offspring's Pro/Ala genotypes is associated with the genesis of GDM.However,the discrepancy of PPARG2 Prol2Ala polymorphism between mother and her fetus implies a possible cause of GDM.%目的 通过对妊娠期糖尿病(GDM)孕妇及其子代过氧化物酶体增殖物激活受体啦(PPARG2)基因的Pro12Ala单核苷酸多态性(SNP)差异分析,探讨母胎基因差异与GDM发病的关系.方法 选择2005年10月至2007年2月于复旦大学附属妇产科医院产科住院分娩的GDM孕妇55例及其新生儿40例为GDM组,正常健康孕妇173例及其新生儿50例为对照组.采用聚合酶链反应.高效变性液相色谱.核苷酸序列测定分析方法,检测两组孕妇及其子代的PPARG2基因Prol2AiaSNP(包括Pro和Ala等位基因、Pro/Pro、Pro/Ala和Ala/Ala基因型)的频率分布情况.采用酶化学法测定孕妇空腹血糖(FBS)、总胆固醇(TC)、甘油三酯(TG)、载脂蛋白A(APO-A)、高密度脂蛋白(HDL)和低密度脂蛋白(LDL)水平.结果 (1)GDM组及对照组孕妇均以Pro/Pro基因型为主(分别为94.6%及90.8%),两组子代Pro/Pro基因型频率(分别为95.0%及94.0%)比较,差异无统计学意义(P>0.05);GDM组孕妇与其子代Pro/Pro基因型频率比较,差异也无统计学意义(P>0.05).GDM组及对照组孕妇Pro/Ala基因型频率(分别为5.5%及9.2%)比较,差异无统计学意义(P>0.05);GDM组子代Ala等位基因频率(2.5%)与对照组子代(3.0%)比较,差异无统计学意义(P>0.05).(2)两组中Pro/Pro基因型与Pro/Ala基因型孕妇FBS、Tc、TG、APO-A、HDL、LDL水平比较,差异均无统计学意义(P>0.05).(3)将孕妇的基因型与其子代的基因型配对组成4种配对类型,分别是Pro/Pro孕妇与Pro/Pro子代、Pro/Ala孕妇与Pro/Ala子代、Pro/Pro孕妇与Pro/Ala子代、Pro/Ala孕妇与Pro/Pro子代;GDM组孕妇及其子代与对照组孕妇及其子代各基因型配对的构成比不同(P展开▼
