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波兰子痫前期妇女中因子 V 莱顿和凝血酶原遗传多态性的意义。

The significance of genetic polymorphisms of factor V Leiden and prothrombin in the preeclamptic Polish women.

机构信息

Division of Perinatology and Women's Diseases, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, Poznan, Poland.

出版信息

J Thromb Thrombolysis. 2010 Jul;30(1):97-104. doi: 10.1007/s11239-009-0432-1.

Abstract

Many studies established that gestational hypertension (GH) and preeclampsia (PE) are multifactorial diseases and disturbances in coagulation cascade have etiological significance. Inherited thrombophilias, like polymorphism of factor V (FV) Leiden and prothrombin (PTM) are considered to be involved in the PE development. The aim of this study was to determine the association between FV Leiden and G20210A of PTM gene polymorphism and GH/PE appearance. The study comprised 235 women: GH (n = 126, mean age 27.5 +/- 6.0 years), mild PE (n = 41, mean age 28.3 +/- 5.7 years), and severe PE (n = 68, mean age 28.5 +/- 5.7 years). The control group consisted of 400 healthy pregnant women (mean age 27.5 +/- 4.7 years). All women included in the study were white Caucasian of Polish origin, and were singleton pregnancies. The G1691A polymorphism of FV and G20210A polymorphism of PTM were detected using polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) assays. For PTM G20210A polymorphism overrepresentation of heterozygous GA genotype (7.4 vs. 1.2%, P = 0.02) and of A allele (3.7 vs. 0.6%, P = 0.02) in the group of severe PE have been found. For FV G1691A polymorphism the overrepresentation of genotypes containing at least one mutated allele A (GA and AA) in the group of women with mild (9.7 vs. 3.5%, ns) and severe PE (8.8 vs. 3.5%, ns) was observed. Our results suggest the significant influence of G20210A prothrombin polymorphism and possible influence of G1691A factor V polymorphism in the development of severe preeclampsia.

摘要

许多研究已经证实,妊娠高血压(GH)和子痫前期(PE)是多因素疾病,凝血级联紊乱具有病因学意义。遗传性血栓形成倾向,如因子 V(FV)利凡诺和凝血酶原(PTM)的多态性,被认为与 PE 的发展有关。本研究旨在确定 FV Leiden 和 PTM 基因 G20210A 多态性与 GH/PE 出现之间的关系。该研究包括 235 名女性:GH(n=126,平均年龄 27.5±6.0 岁)、轻度 PE(n=41,平均年龄 28.3±5.7 岁)和重度 PE(n=68,平均年龄 28.5±5.7 岁)。对照组由 400 名健康孕妇(平均年龄 27.5±4.7 岁)组成。所有纳入研究的女性均为白种波兰裔,且为单胎妊娠。使用聚合酶链反应/限制性片段长度多态性(PCR/RFLP)检测 FV 的 G1691A 多态性和 PTM 的 G20210A 多态性。在重度 PE 组中,PTM G20210A 多态性杂合 GA 基因型(7.4%比 1.2%,P=0.02)和 A 等位基因(3.7%比 0.6%,P=0.02)的出现频率明显更高。在 FV G1691A 多态性中,在轻度(9.7%比 3.5%,无统计学意义)和重度 PE (8.8%比 3.5%,无统计学意义)组中,至少存在一个突变等位基因 A(GA 和 AA)的基因型出现频率更高。我们的结果表明,PTM G20210A 多态性和 FV G1691A 多态性在重度子痫前期的发生中可能具有重要影响。

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