摘要
目的探讨孕妇铁蛋白(FTH1)和溶质转运家族2成员4(SLC2A4)基因单核苷酸多态性(SNP)与妊娠糖尿病(GDM)遗传易感性的关系。方法收集在我院定期产检的GDM组孕妇(206例)和对照组孕妇(197例)的临床资料及实验室指标。应用高通量测序技术检测两组孕妇FTH1基因的11个SNP及SLC2A4基因的10个SNP的分布情况。结果GDM组孕妇的孕前BMI,妊娠10~15周时空腹血糖、糖化血红蛋白、铁蛋白、血红蛋白水平均高于正常对照组孕妇(P<0.05)。FTH1基因的11个SNP位点和SLC2A4基因的9个SNP位点,在GDM组与正常对照组间基因型一致均未发现突变位点。SLC2A4基因rs5435位点存在CC、CT、TT三种基因型分布,两组孕妇该位点基因型、等位基因频率的分布,差异无统计学意义(P>0.05)。两组孕妇孕10~15周铁蛋白水平在rs5435位点的各基因型之间差异无统计学意义(P>0.05)。妊娠达24~28周时,TT型孕妇空腹血糖和糖化血红蛋白水平均高于CC型孕妇,差异有统计学意义(P<0.05)。在GDM组中CC型孕妇妊娠10~15周血红蛋白浓度高于CT型孕妇(P<0.05)。结论在本研究人群中未发现FTH1基因多态性与铁蛋白水平、GDM发病的相关性。但rs5435的CC基因型与GDM组孕妇高血红蛋白浓度有关,TT基因型与妊娠24~28周空腹血糖和糖化血红蛋白水平增高有关。
Objective To explore the relationship between single nucleotide polymorphisms(SNPs)of ferritin heavy chain 1(FTH1)and solute carrier family 2,member 4(SLC2 A4)gene and genetic susceptibility to gestational diabetes mellitus(GDM).Methods 206 pregnant women in GDM group and 197 pregnant women in control group were enrolled in our hospital.Clinical data and laboratory indexes were collected.High-throughput sequencing technology was used to detect the distribution of 11 SNPs in the FTH1 gene and 10 SNPs in the SLC2 A4 gene of the two groups of pregnant women.Results The pre-pregnancy BMI,fasting blood glucose,glycosylated hemoglobin,ferritin,and hemoglobin levels of the GDM group at 10–15 weeks were higher than those of the control group(P<0.05).However,the 11 SNP loci of FTH1 gene and the 9 SNPs loci of SLC2 A4 gene had the same genotype,and no mutation sites were found both in the GDM group and the control group.There were CC,CT and TT genotypes in rs5435 of SLC2 A4 gene.There was no significant difference in the distribution of genotype and allele frequency between the two groups(P>0.05).There was no significant difference between the genotypes of rs5435 in ferritin levels at 10–15 weeks of gestation(P>0.05).At 24–28 weeks of gestation,the fasting blood glucose and glycosylated hemoglobin levels of TT genotype pregnant women are higher than those of CC genotype pregnant women,and the difference is statistically significant(P<0.05).In the GDM group,the hemoglobin concentration of CC genotype women was higher than that of CT genotype at 10–15 weeks(P<0.05).Conclusions There is no correlation between FTH1 gene polymorphism and ferritin level or GDM in this population.However,CC genotype of rs5435 was associated with high hemoglobin concentration in GDM group,and TT genotype was associated with increased fasting blood glucose and glycosylated hemoglobin levels at 24–28 weeks of gestation.
作者
程琰
刘俊秀
张庆英
程海东
CHENG Yan;LIU Junxiu;ZHANG Qingying;CHENG Haidong(Obstetrics and Gynecology Hospital of Fudan University,Shanghai 200090,China)
出处
《中国优生与遗传杂志》
2021年第8期1056-1059,共4页
Chinese Journal of Birth Health & Heredity
基金
国家自然科学基金项目(81471469,81871184)。
