河北医科大学学报 ›› 2022, Vol. 43 ›› Issue (1): 70-74.doi: 10.3969/j.issn.1007-3205.2022.01.015

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育龄期女性MTHFR基因多态性观察及其与VitB12、Hcy、SFA的关系

  

  1. 河北省沧州市妇幼保健院产三科，河北 沧州 061000
  • 出版日期:2022-01-25 发布日期:2022-01-24
  • 作者简介:孙艳（1978-）,女, 河北沧州人，河北省沧州市妇幼保健院主治医师，医学学士，从事妇产科疾病诊治研究。
  • 基金资助:
    沧州市重点研发计划指导项目（183302124）

Observation of MTHFR gene polymorphism and its relationship with VitB12, Hcy and SFA in women of childbearing age

  1. The Third Department of Obstetrics and Gynecology, Cangzhou Maternal and Child Health Hospital, Hebei Province, Cangzhou 061000, China
  • Online:2022-01-25 Published:2022-01-24

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摘要： 目的  研究育龄期女性5,10-亚甲基四氢叶酸还原酶（5,10-methylene tetrahydrofolate reductase，MTHFR）基因多态性及其与维生素B12（vitamin B12,VitB12）、同型半胱氨酸（homocysteine，Hcy）、叶酸（serum folic acid，SFA）的关系。
方法   选取既往有不良孕产史的围孕期患者124例设为A组；另选取行孕期检查且既往无不良孕产史的124例围孕期产妇设为B组。2组入院后均检测MTHFR、甲硫氨酸合成酶还原酶（methionine synthase reductase,MTRR）基因及血清VitB12、SFA、Hcy水平。比较2组MTHFR（C677T、A1298C）、MTRR（A66G）基因型及等位基因分布差异；比较2组血清VitB12、Hcy、SFA水平；比较不同MTHFR C677T基因型患者血清VitB12、Hcy、SFA水平。分析血清VitB12、Hcy、SFA水平与MTHFR C677T基因型间的相关性。
结果   A组MTHFR C677T基因型CT、TT型及T等位基因分布检出率显著高于B组，差异有统计学意义（P＜0.05）。2组MTHFR A1298C基因型及等位基因分布差异无统计学意义（P＞0.05）。2组MTHFR A66G基因型及等位基因分布差异无统计学意义（P＞0.05）。A组Hcy水平显著高于B组，SFA水平显著低于B组，差异有统计学意义（P＜0.05）。A组MTHFR C677T基因型CT、TT型Hcy水平高于CC型，SFA水平显著低于CC型，差异有统计学意义（P＜0.05）。 经相关性分析证实血清Hcy水平与MTHFR C677T基因型CT、TT型呈正相关，血清SFA水平与MTHFR C677T基因型CT、TT型呈负相关（P＜0.05）。
结论  育龄期既往有不良孕产史的女性存在SFA、Hcy波动及MTHFR C677T基因突变，对MTHFR C677T基因型CT、TT型的育龄期女性及时增补SFA或可降低不良妊娠的发生率，改善妊娠结局。


关键词: 受孕期, 叶酸, 维生素B12, 同型半胱氨酸

Abstract: Objective  To explore 5, 10-methylene tetrahydrofolate reductase(MTHFR) gene polymorphism and its relationship with vitamin B12(VitB12), homocysteine(Hcy) and folic acid(SFA) in women of childbearing age. 
Methods  In total, 124 cases of perinatal patients with adverse pregnancy history were included as group A, and another 124 perinatal women who underwent pregnancy examination in our hospital during the same period and had no history of adverse pregnancy were included as group B. After admission, 5, 10-MTHFR, methionine synthase reductase(MTRR) genes and serum VitB12, SFA and Hcy were detected in both groups. MTHFR(C677T, A1298C), MTRR(A66G) genotype and allele distribution were compared between two groups. Serum VitB12, Hcy and SFA levels were compared between two groups. Serum VitB12, Hcy and SFA levels of patients with different MTHFR C677T genotypes were compared. In addition, the correlation between serum VitB12, Hcy, SFA levels and MTHFR C677T genotype was analyzed. 
Results  The detection rate of MTHFR C677T genotype CT, TT and T allele distribution in group A was significantly higher than that in group B, with statistically significant differences(P＜0.05). There was no significant difference in genotype and allele distribution of MTHFR A1298C between two groups(P＞0.05). No significant difference was found in MTHFR A66G genotype and allele distribution between two groups(P＞0.05). The Hcy level of group A was significantly higher than that of group B, and the SFA level was significantly lower than that of group B, with statistically significant differences(P＜0.05). The Hcy levels of MTHFR C677T genotype CT and TT were higher than those of CC genotype, and the SFA level was significantly lower than that of CC genotype, with statistically significant differences(P＜0.05). Correlation analysis confirmed that serum Hcy level was positively correlated with MTHFR C677T genotype CT and TT type, and serum SFA level was negatively correlated with MTHFR C677T genotype CT and TT type(P＜0.05). 
Conclusion  There are SFA and Hcy fluctuations and MTHFR C677T gene mutations in women of childbearing age with previous adverse pregnancy history. Timely supplementation of SFA for WOMEN of childbearing age with MTHFR C677T genotype CT and TT may reduce the incidence of adverse pregnancy and improve pregnancy outcome.


Key words: fertile period, folic acid, vitamin B12, homocysteine

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