Katko Monika, Galgoczi Erika, Erdei Annamaria, Gazdag Annamaria, Berta Eszter, Bodor Miklos, Seres Ildiko, Hircsu Ildiko, Badics Arpad, Ujhelyi Bernadett, Sira Livia, Bhattoa Harjit Pal, Nagy Endre V
Division of Endocrinology, Department of Internal Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
Division of Metabolic Diseases, Department of Internal Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
J Inflamm Res. 2021 May 12;14:1883-1890. doi: 10.2147/JIR.S307046. eCollection 2021.
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.
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.
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.
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.
甲状腺眼病（TED）是一种眼眶自身免疫性疾病。一旦发病，很少能完全治愈。纤溶酶原激活物抑制剂1（PAI-1）有助于结缔组织重塑，在TED的发病机制中起核心作用。我们旨在测试PAI-1的4G/5G多态性是否是中重度TED发生的预测指标。
共研究了185例格雷夫斯病患者，其中87例患有TED，98例未患TED，以及201名健康对照者。从外周血样本中分离基因组DNA。通过等位基因特异性PCR分析PAI-1基因的4G/5G多态性，并计算每组的基因型分布。分别采用酶联免疫吸附测定（ELISA）和电化学发光免疫分析（ECLIA）测量血浆PAI-1和甲状腺激素水平。
4G/4G基因型与中重度TED的发生相关（比值比[OR]=2.54；95%置信区间[CI]：1.26-5.14；p<0.01）。PAI-1的4G/5G多态性不是血浆PAI-1水平的预测指标。
PAI-1的4G/4G基因型是中重度TED发生的危险因素。携带这种基因型的格雷夫斯病患者可能是TED发生时需要特别关注的对象。
