The 4G/5G Polymorphism of Plasminogen Activator Inhibitor Type 1 is a Predictor of Moderate-to-Severe Thyroid Eye Disease

Abstract

Introduction Thyroid eye disease (TED) is an autoimmune disease of the orbits. Once developed, complete cure is rare. Plasminogen activator inhibitor type 1 (PAI-1) contributes to remodeling of connective tissue and has a central role in the pathogenesis of TED. We aimed to test if the 4G/5G polymorphism of PAI-1 is a predictor of the development of moderate-to-severe TED. Methods A total of 185 patients with Graves’ disease, 87 of them with TED, 98 without TED, as well as 201 healthy controls, were studied. Genomic DNA was isolated from peripheral blood samples. The 4G/5G polymorphism of the PAI-1 gene was analyzed by allele-specific PCR, and the distribution of genotypes was calculated in each group. Plasma PAI-1 and thyroid hormone levels were measured by ELISA and ECLIA, respectively. Results The 4G/4G genotype was associated with the development of moderate-to-severe TED (OR = 2.54; 95% CI: 1.26–5.14; p < 0.01). The 4G/5G polymorphism of PAI-1 was not a predictor of plasma PAI-1 levels. Conclusion The 4G/4G genotype of PAI-1 is a risk factor for the development of moderate-to-severe TED. Patients with Graves’ disease who harbor this genotype may be candidates for special attention towards the development of TED.

The 4G/5G polymorphism of plasminogen activator inhibitor type 1 is a predictor of allergic cough

“…According to recent research, PAI-1 controls airway remodeling, hyperresponsiveness, and allergic inflammation, which may contribute to the onset of asthma (Ma et al, 2009). Many research are looking into the relationship between PAI-1 4G/5G polymorphisms and a variety of disorders, such as thrombosis (Zhang et al, 2020a), systemic lupus erythematosus (Anaya-Macias et al, 2020), thyroid eye disease (Katko et al, 2021), metabolic syndrome (Zhang et al, 2020b) and many more. Previous research from our center has shown that the PAI-1 4G/ 5G polymorphism may be useful for determining the prognosis of Chinese patients with venous thromboembolism (Wang et al, 2022).…”