【摘要】 目的研究山东济宁地区造血干细胞表达同源盒(HHEX)基因rs1111875单核苷酸多态性(SNP)的等位基因、基因型频率分布,探讨其与妊娠糖尿病(GDM)及相关代谢指标的关系。方法选取24～28周妊娠期妇女(451例)为研究对象,进行75 g口服葡萄糖耐量试验(OGTT),其中203例诊断为妊娠糖尿病(GDM组),248例诊断为妊娠糖耐量正常(NGT组),应用聚合酶链反应—限制性片段长度多态性(PCR-RFLP)方法检测HHEX基因rs1111875G/A多态性,并进行生化指标检测,分别用胰岛β细胞分泌功能指数(HOMA-B)和稳态模型胰岛素抵抗指数(HOMA-IR)评估胰岛β细胞功能及胰岛素抵抗。结果 GDM组GG、GA、AA三种基因型频率分别为9.9%、42.4%、47.8%,NGT组分别为4.0%、40.7%、55.2%,两组比较,P均<0.05。GDM组G、A等位基因频率分别为31.0%、69.0%,NGT组分别为24.4%、75.6%,两组比较,P<0.05。G等位基因携带者患GDM风险是A等位基因的1.40倍(OR=1.395,95%CI为1.040～1.871,P=0.026)。GG基因型患GDM的风险是AA基因型的4.13倍(OR=4.129,95%CI为1.589～10.731,P=0.004)。GG与AA基因型相比,1 h PG显著升高(P<0.01),FINS、HO-MA-B显著降低(P均<0.01)。结论 HHEX基因rs1111875G/A多态性与山东济宁地区GDM有关,G等位基因可能是其风险等位基因,HHEX基因可能是该地区GDM易感基因之一。更多还原

【Abstract】 Objective To study the alleles and genotype frequency distribution of the single nucleotide polymorphism of rs1111875 in HHEX gene and to investigate its relationship with gestational diabetes mellitus and relevant metabolic parameters.Methods A total of 451 24-28 weeks of pregnant women were included in this case-control study.All the participants underwent 75g oral glucose tolerance test(OGTT),203 of them were diagnosed GDM(GDM group),and the others(248) were normal glucose tolerance(NGT group).The polymorphism of HHEX gene rs1111875G/A was detected by PCR-RFLP analysis(polymerase chain reaction-restriction fragment length polymorphism).Meanwhile clinical characteristics such as body mass index(BMI),blood pressure(Bp),triglycerides(TG),total cholesterol(TC),low density lipoprotein cholesterin(LDL-C),high density lipoprotein cholesterin(HDL-C),etc were measured and calculated.HOMA-B and HOMA-IR were used to estimate β-cell function and insulin resistance.Results The frequencies of GG,GA,AA genotype in GDM group(9.9%,42.4%,47.8%) and those in NGT group(4.0%,40.7%,55.2%) were significantly different,respectively(all P<0.05);the frequencies of G-allele,A-allele in GDM group(31.0%,69.0%) and those in NGT group(24.2%,75.6%) were significantly different,too(P<0.05).The G-allele significantly increased GDM risk with an allelic odd ratio(OR) of 1.40(OR=1.395,95%CI: 1.040-1.871,P=0.026);compared with non-carriers,homozygous carriers of G-allele were liable to have GDM with OR of 4.13(OR=4.129,95%CI: 1.589-10.731,P=0.004).The level of 1 h PG of those with rs1111875GG genotype was higher than those without(P<0.01);the levels of FINS and HOMA-B were lower(all P < 0.01),respectively.Conclusions The rs1111875 polymorphism in HHEX gene is related to GDM in Jining,Shandong province;the G-allele might be a risk factor for GDM;HHEX gene might be one of susceptible genes of GDM in this area.更多还原