Abstract

Background: Autoimmune thyroid disease and diabetes mellitus type 1 are multifactorial diseases, in which there are several common, suspect genes, as well as environmental factors that contribute to the etiology of the disease. These genes were nominated as common susceptibility genes for PAS-III. Family and population studies have shown that PAS IIIA has a strong genetic background. Objective: In this work, gene polymorphisms were examined in 50 patients with PAS-IIIA. It is about polymorphism CTLA-4 gene polymorphism: rs231775. Rs231775, also known as + 49 A/G (or CTLA-4 A49G), is a common nonsynonymous CTLA-4 polymorphism. So far, it has been linked to several autoimmune diseases, especially autoimmune thyroiditis, as well as several other disorders. Methods: Peripheral blood of 50 patients was used as clinical material for the study. DNA was isolated from the collected peripheral blood samples using the Qiamp DNA mini kit, using the attached protocol and manufacturer's instructions. We also performed laboratory blood tests: Hba1c values as a parameter of glycoregulation in the last 3 months, fasting and 2-hour glycemia values, total cholesterol and triglyceride values, anti-TPO and anti-Tg thyroid antibodies. We were interested in the difference in laboratory tests in subgroups GWT, GM and GH. Results: Using the chi-square test, the association between the rs231775 polymorphism and PAS-III was proven. The values of GUK, HbA1C, cholesterol, triglycerides, antibodies to thyroglobulin and antibodies to thyroperoxidase were not statistically significantly different in all three subgroups of patients suffering from PAS III. Conclusion: It has been previously shown that people with a mutation in one allele of CTLA-4 are highly susceptible to autoimmunity, which raises the possibility that more subtle variations in the level of CTLA-4 in the general population can influence the response to therapy. Non-pathogenic polymorphisms in CTLA-4 that alter CTLA-4 expression may affect an individual's lifetime risk for the development of autoimmune and malignant disorders..

Key words: Gene Polymorphisms, Pluriglandular Autoimmune Syndrome (PAS III)