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677 C-T亚甲基四氢叶酸还原酶突变并不能预测孕期母体同型半胱氨酸水平升高。

The 677 C-T methylenetetrahydrofolate reductase mutation does not predict increased maternal homocysteine during pregnancy.

作者信息

Powers Robert W, Dunbar Michael S, Gallaher Marcia J, Roberts James M

机构信息

Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA.

出版信息

Obstet Gynecol. 2003 Apr;101(4):762-6. doi: 10.1016/s0029-7844(02)03120-4.

DOI:10.1016/s0029-7844(02)03120-4
PMID:12681883
Abstract

OBJECTIVE

To test the hypothesis that, regardless of the presence of the 677 C-T methylenetetrahydrofolate reductase (MTHFR) mutation, maternal homocysteine concentrations will not be significantly different in women who are taking prenatal vitamins containing folic acid, and to test this relationship in preeclampsia because homocysteine concentrations are higher in preeclamptic pregnancies.

METHODS

Fifty-seven pregnant white women (control and preeclamptic) with and without the 677 C-T MTHFR mutation were studied. Total plasma homocysteine and plasma folic acid were analyzed.

RESULTS

Homocysteine concentrations were not different by MTHFR genotype (wild type 677 CC 8.7 +/- 5.6 microM versus mutant 677 TT 9.0 +/- 5.7 microM, P =.84) in preeclamptic or normal pregnancies. However, mean homocysteine concentrations were significantly increased in preeclamptic pregnancies compared with those in normal pregnancies (10.6 +/- 7.3 microM versus 7.2 +/- 3.0 microM, P <.03) as previously reported.

CONCLUSION

The 677 C-T MTHFR polymorphism does not significantly affect maternal homocysteine concentrations in most women taking prenatal vitamins including women with preeclampsia. The increase in plasma folic acid likely affects maternal homocysteine more than the MTHFR genotype. If homocysteine is considered a thrombophilia risk factor, the concentration of the amino acid and not a particular genotype should be determined.

摘要

目的

检验以下假设,即无论是否存在677 C-T亚甲基四氢叶酸还原酶(MTHFR)突变,服用含叶酸的产前维生素的女性其母体同型半胱氨酸浓度无显著差异,并在子痫前期检验这种关系,因为子痫前期妊娠中同型半胱氨酸浓度较高。

方法

对57名有或无677 C-T MTHFR突变的白人孕妇(对照组和子痫前期组)进行研究。分析血浆总同型半胱氨酸和血浆叶酸。

结果

在子痫前期或正常妊娠中,同型半胱氨酸浓度不因MTHFR基因型而异(野生型677 CC为8.7±5.6微摩尔/升,突变型677 TT为9.0±5.7微摩尔/升,P = 0.84)。然而,如先前报道,子痫前期妊娠的平均同型半胱氨酸浓度与正常妊娠相比显著升高(10.6±7.3微摩尔/升对7.2±3.0微摩尔/升,P < 0.03)。

结论

677 C-T MTHFR多态性对大多数服用产前维生素的女性(包括子痫前期女性)的母体同型半胱氨酸浓度无显著影响。血浆叶酸的增加可能比MTHFR基因型对母体同型半胱氨酸的影响更大。如果将同型半胱氨酸视为血栓形成风险因素,则应测定氨基酸的浓度而非特定基因型。

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