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患有和未患有子宫内膜异位症的不孕女性中纤维蛋白溶解系统相关基因的遗传变异。

Genetic variants in fibrinolytic system-related genes in infertile women with and without endometriosis.

作者信息

Brandes Ariel, Christofolini Denise M, Cavalheiro Camila M, Vilarino Fabia L, André Gustavo M, Bianco Bianca, Barbosa Caio P

机构信息

Division of Human Reproduction and Genetics, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC , Santo André, Sao Paulo, Brazil .

出版信息

Genet Test Mol Biomarkers. 2012 Jan;16(1):54-7. doi: 10.1089/gtmb.2011.0112. Epub 2011 Aug 5.

Abstract

AIMS

The aim of this study was to evaluate urokinase-type plasminogen activator gene (uPA) and thrombin-activatable fibrinolysis inhibitor gene (TAFI) genotypes in a group of infertile women with and/or without endometriosis and controls.

METHODS

A case-control study comprising 180 infertile women with endometriosis, 68 women with idiopathic infertility, and 152 fertile women as controls was carried out. Detection of uPA (C422T/rs2227564) and TAFI (G438A/rs2146881) polymorphisms was performed by TaqMan polymerase chain reaction. The results were statistically analyzed and a p-value of <0.05 was considered significant.

RESULTS

We found no association among both uPA or TAFI polymorphisms and endometriosis-related infertility (p=0.920 and p=0.356, respectively) or idiopathic infertility (p=0.502 and p=0.392, respectively) comparing to controls, even considering minimal/mild and moderate/severe endometriosis separately. Both uPA and TAFI polymorphisms were in Hardy-Weinberg equilibrium for all studied groups. The combinatory analysis of both uPA and TAFI polymorphisms to endometriosis-related infertility, idiopathic infertility, and control group showed no statistical difference to any combination.

CONCLUSION

The data suggest that, in the Brazilian population, genetic variations in both uPA and TAFI were not relevant to endometriosis and/or infertility.

摘要

目的

本研究旨在评估一组患有和/或未患有子宫内膜异位症的不孕女性以及对照组中尿激酶型纤溶酶原激活剂基因(uPA)和凝血酶激活的纤溶抑制因子基因(TAFI)的基因型。

方法

开展了一项病例对照研究,纳入180例患有子宫内膜异位症的不孕女性、68例特发性不孕女性以及152例可育女性作为对照。通过TaqMan聚合酶链反应检测uPA(C422T/rs2227564)和TAFI(G438A/rs2146881)基因多态性。对结果进行统计学分析,p值<0.05被认为具有显著性。

结果

与对照组相比,我们发现uPA或TAFI基因多态性与子宫内膜异位症相关不孕(分别为p=0.920和p=0.356)或特发性不孕(分别为p=0.502和p=0.392)之间均无关联,即使分别考虑轻度/中度和重度子宫内膜异位症。所有研究组中uPA和TAFI基因多态性均处于哈迪-温伯格平衡。uPA和TAFI基因多态性与子宫内膜异位症相关不孕、特发性不孕及对照组的联合分析显示,任何组合之间均无统计学差异。

结论

数据表明,在巴西人群中,uPA和TAFI的基因变异与子宫内膜异位症和/或不孕无关。

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