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子痫前期合并妊娠的胎盘组织中5,10-亚甲基四氢叶酸还原酶基因多态性(C677T和A1298C)

Polymorphisms of the methylenetetrahydrofolate reductase gene (C677T and A1298C) in the placenta of pregnancies complicated with preeclampsia.

作者信息

Chedraui Peter, Andrade Mariela E, Salazar-Pousada Danny, Escobar Gustavo S, Hidalgo Luis, Ramirez Cecibel, Spaanderman Marc E A, Kramer Boris W, Gavilanes Antonio W D

机构信息

a Enrique C. Sotomayor Obstetrics and Gynecology Hospital , Guayaquil , Ecuador .

出版信息

Gynecol Endocrinol. 2015 Jul;31(7):569-72. doi: 10.3109/09513590.2015.1031104. Epub 2015 Jun 2.

Abstract

BACKGROUND

Preeclampsia has been related to single-nucleotide polymorphisms (SNPs) of the methylenetetrahydrofolate reductase (MTHFR) gene; however, data regarding the placenta are still lacking.

OBJECTIVE

To determine the frequency of C677T and A1298C SNPs of the MTHFR gene in the placenta of preeclamptic pregnancies and healthy controls.

METHODS

Genotyping of C677T and A1298C polymorphisms of the MTHFR gene using RFLP-PCR was performed to the placenta of 100 gestations (n = 50 complicated with preeclampsia and n = 50 normal controls matched for parity and maternal age).

RESULTS

Gestational age at birth and neonatal and placental weight were significantly lower in women with preeclampsia as compared to controls. The TT genotype of the C677T polymorphism was threefold more prevalent in preeclamptic placentas as compared to the placenta of controls (24.0% versus 8.0%, p = 0.001). Upon pooled analysis (n = 100), placental and neonatal weights were significantly lower in placentas displaying this genotype (TT, C677T) as compared with the CC genotype.

CONCLUSION

This study found that the frequency of the TT mutant genotype of the C677T polymorphism was higher in the placenta of pregnancies complicated with preeclampsia. There is a need for further research in this matter.

摘要

背景

子痫前期与亚甲基四氢叶酸还原酶(MTHFR)基因的单核苷酸多态性(SNP)有关;然而,关于胎盘的相关数据仍然缺乏。

目的

确定子痫前期妊娠和健康对照者胎盘中MTHFR基因C677T和A1298C SNP的频率。

方法

采用RFLP-PCR对100例妊娠胎盘(n = 50例合并子痫前期,n = 50例年龄和产次匹配的正常对照)进行MTHFR基因C677T和A1298C多态性基因分型。

结果

与对照组相比,子痫前期妇女的出生孕周、新生儿及胎盘重量显著降低。与对照胎盘相比,子痫前期胎盘C677T多态性的TT基因型发生率高出三倍(24.0%对8.0%,p = 0.001)。综合分析(n = 100)显示,与CC基因型相比,具有该基因型(TT,C677T)的胎盘的胎盘和新生儿重量显著降低。

结论

本研究发现,合并子痫前期妊娠的胎盘中C677T多态性的TT突变基因型频率较高。对此问题需要进一步研究。

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