浦东新区周康航地区孕前及孕早期妇女叶酸代谢酶基因多态性与新生儿出生缺陷的关联性研究

Study on the relations of genetic polymorphisms of folic metabolic enzymes with the birth defects risk in pregnancy or early pregnancy women in Zhou Kang air area,Pudong New Area

目的探讨浦东新区周康地区孕前及孕早期妇女叶酸代谢相关基因位点多态性分布与出生缺陷关联性研究。方法选取2014年9月-2016年9月在本院行正常体检的孕妇2 001例作为研究对象,根据患者是否出现出生缺陷分为有出生缺陷的观察组68例,无出现缺陷的对照组1 933例,所有患者均抽血检测血清中5,10-亚甲基四氢叶酸还原酶(MTHFR)基因的A66G位点和甲硫氨酸合成酶还原酶(MTRR)基因的A1298C位点的多态性,探讨其与患者血清中叶酸(FA)、维生素B12(VB12)、同型半胱氨酸(Hcy)水平的关系,并探讨基因多态性与患者出生缺陷的关系。结果MTHFR-677 T/T基因型血清中FA、VB12含量低于其他基因型,而Hcy含量高于其他基因型;MTRR-66 A/A基因型血清中FA、VB12含量低于其他基因型,而Hcy含量高于其他基因型,差异均有统计学意义(P<0.05)。多因素分析提示,MTHFR-677 T/T、MTRR-66 A/A是导致新生儿出生缺陷的独立危险因素。结论 MTHFR-677T/T和MTRR-66A/A的产妇是新生儿出生缺陷的独立危险因素。

Objective To study the relations between genetic polymorphisms of folic metabolic enzymes with the birth defects risk in pregnancy or early pregnancy women in Zhou Kang air area,Pudong New Area. Methods 2 001 pregnant women for normal physical examination were selected as the research objects in our hospital from September 2014 to September 2016. The patients are divided into the observation group（ 68 cases of birth defects） and the control group（ 1 933 cases without defects） according to whether there was birth defects. Blood was sampled from all the patients for the detection of serum 510-methylenetetrahydrofolate reductase（ MTHFR） the loci of A66 G and methionine synthase reductase（ MTRR） polymorphism of the A1298 C locus,so as to explore its relationship with serum folic acid,vitamin B12,Hcy levels,and the relationship between gene polymorphism and patients with birth defects. Results In serum MTHFR-677 T/T,FA and VB12 were significantly lower than other genotypes,while the Hcy level was significantly higher than that of other genotypes. And in serum MTRR-66,FA and VB12 levels were significantly lower than that of other genotypes,while Hcy was significantly higher than other genotypes,with the differences statistically significant（ P〈0. 05）. Multivariate analysis suggested MTHFR-677 T/T and MTRR-66 A/A are the independent risk factors for birth defects. Conclusion MTHFR-677 T/T and MTRR-66 A/A are independent risk factors for birth defects in newborns.