血浆Hcy水平及MTHFR和MTRR基因多态性与复发性流产的相关性研究

Study on correlation between serum homocysteine and gene polymorphism of MTHFR and MTRR with recurrent spontaneous abortion

目的探讨血清同型半胱氨酸(Hcy)水平及亚甲基四氢叶酸还原酶(MTHFR)、甲硫氨酸合成酶还原酶(MTRR)基因多态性与不明原因复发性流产的相关性。方法以84例复发性自然流产的患者作为病例组,60例已有1次正常生育史,且既往无不良孕产史的妇女作为对照组,应用荧光定量PCR技术检测MTHFR基因C677T、A1298C和MTRR A66G位点的多态性,同时应用比色法检测血清Hcy水平。比较病例组和对照组间各种基因型和血清Hcy水平的差异。结果病例组血清Hcy水平明显高于对照组;高Hcy是先兆流产的危险因素(OR=2.132,P=0.021);MTHFR C677位点TT基因型携带者血清Hcy水平明显高于其他基因型;A1298位点CC基因型携带者血清Hcy水平明显高于AA野生型;MTRR A66位点GG基因型携带者血清Hcy水平明显高于其他基因型,差异均有统计学意义(P<0.05)。结论 Hcy升高是导致复发性流产的重要危险因素;MTHFR基因C677T、A1298C和MTRR A66G位点的多态性改变均可致血清Hcy水平升高,与复发性流产的发生有一定的相关性。

Objective： To investigate the relationship between serum homocysteine and gene polymorphism of MTHFR and MTRR with recurrent spontaneous abortion of unknown cause. Methods： 84 cases of recurrent spontaneous abortion and 60 heathy pregnant women without abnormal pregnant were selected as the cases group and the control group respectively. The polymorphism of C677T, A1298C in MTHFR gene and A66G in MTRR gene were detected by the fluorescence quantitative PCR, meanwhile the level of serum Hcy was tested by colormetric method. The differences in genotypes and serum Hcy level were compared between the two groups. Results： The serum Hcy level in the case group was remarkably higher than in the control group. The high Hcy level was the risk factor of threatened abortion （OR=2.132, P=0.021 ） .The serum Hcy level in the MTHFR C677 TT genotype carriers was remarkably higher than that in the other genotypes carders. The serum Hcy level in the MTHFR A1298 CC genotype carriers was significantly higher than that in the AA genotypes carders. The serum Hcy level in the MTRR A66 GG genotype carriers was remarkably higher than that in the other genotypes carriers. The differences were statistically significant （P〈 0.05） . Conclusion： The increase of serum Hcy level is an important risk factor of recurrent spontaneous abortion. The polymorphism of C677T, A1298C in MTHFR gene and A66G in MTRR gene all can cause the increase of serum Hcy level and have certain relation with the occurrence of recurrent spontaneous abortion.