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

• Published in: Ophthalmic genetics Vol. 39; no. 6; pp. 714 - 716
• Main Authors: Malle, Eva Maria, Posch-Pertl, Laura, Renner, Wilfried, Pinter-Hausberger, Silke, Singer, Christoph, Haas, Anton, Wedrich, Andreas, Weger, Martin
• Format: Journal Article
• Language: English
• Published: England 02.11.2018
• Subjects: plasminogen activator type 1; Central serous chorioretinopathy; genetic polymorphism; risk factor; tissue-type plasminogen activator
• DOI: 10.1080/13816810.2018.1536219
• ISSN: 1381-6810; 1744-5094

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. 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. 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. 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.