MTHFR基因多态性及血清AFP水平与胎儿神经管畸形的关系

Relationship between MTHFR gene polymorphism and serum AFP level and neural tube malformation in fetus

目的分析亚甲基四氢叶酸还原酶(MTHFR)基因多态性及血清甲胎蛋白(AFP)与胎儿神经管畸形的关系。方法选取2018年1月至2023年11月在陕西省宝鸡市妇幼保健院引产或分娩的50例胎儿神经管畸形产妇作为观察组,另选取150例胎儿健康产妇作为对照组。比较两组MTHFR基因多态性分布情况及血清AFP水平,比较观察组不同MTHFR基因多态性血清AFP水平,采用多因素Logistic回归分析胎儿神经管畸形的危险因素。结果观察组MTHFR C677T基因CT基因型+TT基因型、MTHFR A1298C基因AC基因型+CC基因型比例及血清AFP水平高于对照组,差异均有统计学意义(P<0.05)。观察组MTHFR C677T基因CT基因型+TT基因型产妇血清AFP水平高于CC基因型,MTHFR A1298C基因AC基因型+CC基因型产妇血清AFP水平高于AA基因型,差异均有统计学意义(P<0.05)。多因素Logistic回归分析结果显示,MTHFR C677T基因CT基因型+TT基因型、MTHFR A1298C基因AC基因型+CC基因型是发生胎儿神经管畸形的危险因素(P<0.05)。结论MTHFR C677T基因、MTHFR A1298C基因多态性及血清AFP水平与胎儿神经管畸形有关,在预测胎儿神经管畸形方面有一定应用价值。

Objective To analyze the relationship between methylenetetrahydrofolate reductase(MTHFR)gene polymorphism and serum alpha-fetoprotein(AFP)level and neural tube malformation in fetus.Methods Fifty pregnant women with fetal neural tube malformation who were induced or delivered in Baoji Maternal and Child Health Hospital from January 2018 to November 2023 were selected as the observation group,and 150 healthy pregnant women were selected as the control group.The MTHFR gene polymorphism distribution and serum AFP level were compared between the two groups,and the serum AFP level of different MTHFR gene polymorphism in the observation group was compared.The risk factors of neural tube malformation in fetus were analyzed by multivariate Logistic regression.Results The proportion of MTHFR C677T CT genotype+TT genotype,MTHFR A1298C AC genotype+CC genotype and serum AFP level in the observation group were higher than those in the control group,and the differences were statistically significant(P<0.05).The maternal serum AFP level of MTHFR C677T gene CT genotype+TT genotype in the observation group was higher than that of CC genotype,and the maternal serum AFP level of MTHFR A1298C gene AC genotype+CC genotype was higher than that of AA genotype,and the differences were statistically significant(P<0.05).Multivariate Logistic regression analysis showed that MTHFR C677T gene CT genotype+TT genotype,MTHFRA 1298C gene AC genotype+CC genotype were risk factors for neural tube malformation in the fetus(P<0.05).Conclusion MTHFR C677T gene,MTHFR A1298C gene polymorphism and serum AFP level are related to fetal neural tube malformation and have certain application value in predicting fetal neural tube malformation.