孕妇MTHFR基因多态性对孕早期同型半胱氨酸水平的影响研究

Effects of MTHFR gene polymorphism on Hcy levels during early pregnancy

目的分析孕妇5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C两位点基因多态性对孕早期同型半胱氨酸水平的影响。方法选取2019年4—5月在成都市双流区妇幼保健院产科门诊初次建卡的孕妇作为研究对象,采用PCR-RFLP技术检测MTHFR C677T、A1298C位点基因型,循环酶法检测Hcy水平,以Logistic回归分析MTHFR C677T、A1298C基因多态性孕早期Hcy的影响。结果272例研究对象中,MTHFR C677T基因C→T突变率为35.8%,CC型、CT型、TT型的检出率分别为39.9%、48.7%、11.4%,MTHFR A1298C基因A→C突变率为18.1%,AA型、AC型、CC型的检出率分别为66.5%、29.4%、3.3%,调整年龄、叶酸摄入情况、孕早期BMI后,Logistic回归分析结果提示MTHFR C677T纯合突变是Hcy高水平的危险因素(OR=5.082,95%CI:1.921~13.443)。结论MTHFR C677T基因多态性与孕早期Hcy水平有关,MTHFR C677T纯合突变是孕早期Hcy高水平的危险因素,MTHFR A1298C位点不同突变情况与孕早期Hcy水平无明显相关性。

Objective To analyze the effect of 5,10-methylene tetrahydrofolate reductase(MTHFR)C677T and A1298C gene polymorphisms on homocysteine levels in early pregnancy.Methods The study subjects were pregnant women who had been registered for the first time in the obstetrical clinic of the maternal and child health hospital of shuangliu district,chengdu from April 2019 to May 2019.The genotypes of the MTHFR C677T and A1298C sites were detected by PCR-RFLP technology.The Hcy level was detected by circulating enzyme method.Results Among 272 women in early regnancy,the mutation rate of gene C→T in MTHFR C677T was 35.8%,the detection frequency of CC type,CT type and TT type were 39.9%,48.7%and 11.4%,respectively,and the mutation rate of gene A→C in MTHFR A1298C was 18.1%,the detection frequency of CC type,CT type and TT type were 66.5%,29.4%and 3.3%,respectively.After adjusting for age,folic acid intake and BMI in early pregnancy,Logistic regression analysis after adjusting for age,folic acid intake and BMI in early pregnancy suggested that the homozygous mutation of MTHFR C677T was a risk factor for high levels of Hcy(OR=5.082,95%CI:1.921-13.443).Conclusion MTHFR C677T gene polymorphism was associated with Hcy level in early pregnancy,and MTHFR C677T homozygous mutation was a risk factor for high levels of Hcy in pregnancy,there was no statistical correlation between different mutations of MTHFRA1298C site and Hcy level in early pregnancy.