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组织型纤溶酶原激活剂-7351C>T和纤溶酶原激活剂抑制剂1 4G/5G基因多态性在中心性浆液性脉络膜视网膜病变中的作用。

Role of the tissue-type plasminogen activator -7351C > T and plasminogen activator inhibitor 1 4G/5G gene polymorphisms in central serous chorioretinopathy.

作者信息

Malle Eva Maria, Posch-Pertl Laura, Renner Wilfried, Pinter-Hausberger Silke, Singer Christoph, Haas Anton, Wedrich Andreas, Weger Martin

机构信息

a Department of Ophthalmology , Medical University of Graz , Graz , Austria.

b Clinical Institute of Medical and Chemical Laboratory Diagnostics , Medical University Graz , Graz , Austria.

出版信息

Ophthalmic Genet. 2018 Dec;39(6):714-716. doi: 10.1080/13816810.2018.1536219. Epub 2018 Nov 15.

Abstract

BACKGROUND

Central serous chorioretinopathy (CSC) is a common chorioretinal disease, characterized by choroidal hyperpermeability leading to neurosensory and/or retinal pigment epithelial detachments. Hypofibrinolysis due to higher plasma concentrations of plasminogen activator type 1 (PAI-1) or lower activity of tissue-type plasminogen activator (t-PA) has been implicated in the pathogenesis of CSC. Functional polymorphisms in the PAI-1 (SERPINE1) and t-Pa (PLAT) are thus potential risk factors for CSC. The aim of the present study was therefore to investigate a hypothesized association between the PAI-1 4G/5G and the t-PA -7351C > T gene variants and the presence of CSC.

METHODS

The present study comprised 172 CSC patients and 313 control subjects. Genotypes of the PAI-1 4G/5G and the t-PA -7351C > T polymorphisms were determined by TaqMan fluorogenic 5'-exonuclease assays.

RESULTS

Allelic frequencies or genotype distributions of neither the PAI-1 4G/5G nor the t-PA -7531C > T polymorphisms were significantly different between patients with CSC and control subjects (PAI-1 4G/4G: 24.4% vs. 20.4, p = 0.36; t-PA -7351CC: 42.4% vs. 46.0%, p = 0.50). After adjusting for age and gender presence of the PAI-1 4G/4G genotype was associated with a non-significant odds ratio (OR) of 1.21 (95% confidence interval [95% CI]: 0.77-1.92, p = 0.41), while homozygosity for the t-PA -7351C allele yielded a non-significant OR of 0.91 (95% CI: 0.62-1.33, p = 0.62) for CSC.

CONCLUSION

The present study suggests that both the t-PA -7351C > T and the PAI-1 4G/5G gene variants are unlikely major risk factors for CSC.

摘要

背景

中心性浆液性脉络膜视网膜病变(CSC)是一种常见的脉络膜视网膜疾病,其特征是脉络膜通透性增加,导致神经感觉层和/或视网膜色素上皮脱离。纤溶酶原激活物1型(PAI-1)血浆浓度升高或组织型纤溶酶原激活物(t-PA)活性降低引起的纤溶功能减退与CSC的发病机制有关。因此,PAI-1(SERPINE1)和t-PA(PLAT)的功能多态性是CSC的潜在危险因素。因此,本研究的目的是调查PAI-1 4G/5G和t-PA -7351C>T基因变异与CSC存在之间的假设关联。

方法

本研究包括172例CSC患者和313例对照受试者。通过TaqMan荧光5'-外切酶分析确定PAI-1 4G/5G和t-PA -7351C>T多态性的基因型。

结果

CSC患者和对照受试者之间,PAI-1 4G/5G和t-PA -7531C>T多态性的等位基因频率或基因型分布均无显著差异(PAI-1 4G/4G:24.4%对20.4%,p = 0.36;t-PA -7351CC:42.4%对46.0%,p = 0.50)。在调整年龄和性别后,PAI-1 4G/4G基因型的存在与1.21的非显著优势比(OR)相关(95%置信区间[95%CI]:

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