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NOS3、ACE 和 PAI-1 基因多态性与加沙地带自然流产复发风险的关系。

Polymorphisms in NOS3, ACE and PAI-1 genes and risk of spontaneous recurrent miscarriage in the Gaza Strip.

机构信息

Department of Obstetrics and Gynecology Lab, Alshifa Hospital, Ministry of Health, Gaza, Palestine.

出版信息

Med Princ Pract. 2010;19(2):99-104. doi: 10.1159/000273067. Epub 2010 Feb 4.

DOI:10.1159/000273067
PMID:20134171
Abstract

OBJECTIVE

This study was conducted to investigate the correlation between spontaneous recurrent miscarriage (RM) and common polymorphisms in angiotensin-converting enzyme (ACE), plasminogen activator inhibitor 1 (PAI-1) and endothelium-derived nitric oxide synthase 3 (NOS3) genes among women experiencing RM in the Gaza Strip.

METHODS

The presence of these genetic profiles was determined for 100 women who had had at least 3 constitutive abortions and 100 controls without any history of abortion using molecular biological techniques.

RESULTS

The ACE D/D polymorphism was present in 49% of the study population and in 54% of the controls (p = 0.479). Similarly, there was no significant difference detected in the distribution of polymorphisms for PAI-1, with the 4G/4G genotype present in the study group and in controls (p = 1.00). NOS3 4a/4a was present in 4% of the study group and in none of the 100 controls (p = 0.123). In this study, we also discovered a new variant in the NOS3 gene which was named 4c allele and was encountered in 1 patient and in 1 control subject.

CONCLUSION

There was no significant association between ACE I/D, PAI-1 4G/5G and NOS3 4a/4b and the occurrence of first-trimester RM. In-depth investigation of the association of NOS3 4a/4a with RM is strongly recommended.

摘要

目的

本研究旨在探讨加沙地带经历自然反复性流产(RM)的女性中血管紧张素转换酶(ACE)、纤溶酶原激活物抑制剂 1(PAI-1)和内皮型一氧化氮合酶 3(NOS3)基因常见多态性与 RM 之间的相关性。

方法

采用分子生物学技术,对 100 名至少发生 3 次习惯性流产的女性和 100 名无流产史的对照组女性进行这些遗传特征的检测。

结果

研究人群中 ACE D/D 多态性的存在率为 49%,对照组为 54%(p=0.479)。同样,PAI-1 多态性的分布也没有显著差异,研究组和对照组均存在 4G/4G 基因型(p=1.00)。NOS3 4a/4a 存在于研究组的 4%和对照组的 0 中(p=0.123)。在本研究中,我们还发现了 NOS3 基因中的一个新变体,命名为 4c 等位基因,在 1 例患者和 1 例对照中遇到。

结论

ACE I/D、PAI-1 4G/5G 和 NOS3 4a/4b 与早期 RM 的发生之间没有显著相关性。强烈建议深入研究 NOS3 4a/4a 与 RM 的相关性。

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