Endocrine Abstracts

This article discusses the role of gene polymorphisms in the development and clinical progression of autoimmune thyroiditis (AIT) based on our research. By considering the genotypic polymorphism of the studied genes, we aim to develop new effective methods for prognosis, treatment, and prevention in AIT.

Introduction: Autoimmune thyroiditis (AIT) is a significant endocrine problem characterized by autoaggressive lymphoid and plasmacytic infiltration leading to the destruction of the thyroid gland. AIT affects 3-4% of the global population and is more prevalent in women aged 40-50 years. Subclinical hypothyroidism (SH) is a common condition associated with AIT, with a prevalence of 6-17% in the population. The understanding of pathogenetic mechanisms, diagnostic methods, and therapeutic measures for AIT remains insufficient.

Methods: Our study aimed to investigate the role of CyP17a1 gene rs743572 polymorphism in the formation and clinical course of AIT. DNA samples from 113 AIT patients and 94 healthy donors were genotyped using Sintol nPF npF reagent kits. Hormonal and ultrasound studies were conducted to categorize patients into hypothyroidism, euthyroidism, and hyperthyroidism groups.

Results: The study revealed significant differences in the frequency of genotypes and alleles of the CYP17A1 rs743572 SNP among various thyroid status groups. The G197A polymorphism was more prevalent in AIT patients, particularly in the hypothyroidism group, compared to the control group. The IL17A G197A genotypes also exhibited significant differences between AIT patients and the control group, indicating potential associations with thyroid dysfunction.

Conclusion: Our findings suggest a potential association between the G197A polymorphism in the CyP17a1 gene and thyroid dysfunction, especially in patients with hypothyroidism. The study emphasizes the relevance of genetic factors in thyroid diseases and provides insights for further investigations into the molecular mechanisms underlying hypothyroidism. Future research should consider expanding the patient sample and analyzing additional genetic factors for more personalized approaches to diagnosis and treatment. The study establishes a pronounced association of the CyP17a1 gene rs743572 polymorphism with the risk of AIT development in the Uzbek population.