妊娠期合并心脏病病人血清中MTHFR基因C677T位点多态性与母婴结局关系

Relationship between C677T polymorphism of MTHFR gene and maternal and infant out⁃comes in pregnant women with heart disease

目的探讨妊娠期合并心脏病病人血清中MTHFR基因C677T位点多态性与母婴结局关系。方法选取2018年2月至2019年10月德州市妇女儿童医院就诊的妊娠期合并心脏病病人88例(妊娠期心脏病组)及同期健康孕妇92例(对照组),通过聚合酶链式反应-限制性片段长度多态性(PCR-RELP)法检测受试者血清MTHFR基因C677T位点多态性分布频率,并分析MTHFR基因单核苷酸各基因型与符合妊娠结局的关系。结果MTHFR基因C677T位基因型有CC野生型、CT杂合子型、TT纯合子型;对照组与妊娠期合并心脏病组MTHFR基因C677T位点各基因型符合Hardy-Weinberg平衡定律;与对照组相比,妊娠期心脏病组MTHFR基因C677T位点CT、TT基因型及T等位基因频率分布显著升高(P<0.05);妊娠期心脏病组孕妇CT型、TT型病人巨大儿、新生儿低血糖、新生儿窒息、早产儿发生率均高于CC型;TT型病人巨大儿、新生儿低血糖、新生儿窒息、早产儿发生率均高于杂合子CT型(P<0.05);二元logistic回归分析显示,MTHFR基因C677T位点杂合子CT型、纯合子突变TT型是妊娠期合并心脏病病人不良妊娠结局发生的危险因素(P<0.05)。结论血清中MTHFR基因C677T位点多态性与妊娠期心脏病母婴结局关系密切。

Objective To investigate the relationship between C677T polymorphism of MTHFR gene in serum and maternal and infant outcomes in pregnant women with heart disease.Methods 88 pregnant women with heart disease during pregnancy and 92 healthy pregnant women in the same period were selected as the study objects in Dezhou Women's and Children's Hospital from February 2018 to October 2019,the distribution frequency of C677T locus on MTHFR gene was detected by polymerase chain reaction restriction fragment length polymorphism(PCR-RELP),and the relationship between MTHFR single nucleotide genotypes and pregnancy outcomes was analyzed.Results The genotypes of C677T locus on MTHFR gene included CC wild type,CT heterozygote and TT homozygote;the genotypes of C677T locus on MTHFR gene in the control group and the heart disease during pregnancy group conformed to Hardy-Weinberg equilibrium law;compared with the control group,the frequencies of CT,TT genotypes and T allele in C677T locus of MTHFR gene in heart disease during pregnancy group were significantly increased(P<0.05);the incidences of fetal macrosomia,neonatal hypoglycemia,asphyxia neonatorum and premature in pregnant women of CT type and TT type in heart disease during pregnancy group were higher than those in CC group;the incidences of fetal macrosomia,neonatal hypoglycemia,asphyxia neonatorum and premature in pregnant women of TT type were higher than those in heterozygote CT type(P<0.05);and binary logistic regression analysis showed that CT heterozygote and TT homozygote mutation at C677T locus on MTHFR gene were risk factors for adverse pregnancy outcome in patients with heart disease during pregnancy(P<0.05).Conclusion The C677T polymorphism of MTHFR gene in serum is closely related to the maternal and infant outcomes of heart disease during pregnancy.