Abstract

Background: PTPN22 is an important candidate gene for autoimmune diseases and its SNP is involved in the pathogenesis of a variety of autoimmune diseases. Objective: To investigate the relationship between the PTPN22 gene polymorphism (rs2488457) and the Th17 and Treg cells and factors in the peripheral blood mononuclear cells (PBMC) of Graves' disease (GD) patients with different iodine nutrition conditions. Methods: We selected 100 GD patients and 60 healthy people in Cangzhou Central Hospital and People's Hospital from September 2019 to August 2020 and used SASP-PCR technology to calculate the PTPN22-1123 genotype and allele frequency. Flow cytometrywere used to detect the ratio and ratio of Th17 and Treg cells in PBMC and real-time PCR were used to detect the mRNA expression levels of ROR-γt and Foxp3. ELISA method was used to detect serum IL-17 and TGF-β levels. Results: The PTPN22 gene -1123G>C (rs2488457) of GD patients has a certain correlation with Th17 and Treg cells and their factors in PBMC. The distribution frequencies of various genotypes and alleles were statistically different between GD patients and the control group (P<0.05), but they had nothing to do with iodine nutrition status. The C/G and C/C genotypes at the PTPN22 gene (1123 G>C) of may increase the risk of GD, while the G/G genotype may reduce the risk of GD. Conclusion: PTPN22 gene polymorphism (rs2488457) in GD patients and Th17 and Treg cells and their factors in PBMC are related to GD susceptibility.

Highlights

  • Autoimmune thyroid diseases (AITD) are the most common thyroid diseases other than iodine deficiency diseases, and they are common organ-specific autoimmune diseases in humans, and their incidence has been on the rise in recent years

  • This study found that there was no statistically significant difference between the G/G, C/G, C/C genotypes and the G and C gene frequencies at the protein tyrosine phosphatase non-receptor 22 (PTPN22) gene 1123G>C site between Graves' disease (GD) patients and the control group under different iodine nutrition conditions, It shows that the iodine nutritional status and the 1123G>C polymorphism of PTPN22 gene have no correlation with the onset of GD

  • We found that the proportion of Th17 cells, serum IL-17 and ROR-γt in the peripheral blood mononuclear cells (PBMC) of GD patients with different iodine nutritional status were significantly increased, while the proportion of Treg cells and Foxp3mRNA expression were significantly decreased, serum TGF-β decreased

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Summary

Introduction

Autoimmune thyroid diseases (AITD) are the most common thyroid diseases other than iodine deficiency diseases, and they are common organ-specific autoimmune diseases in humans, and their incidence has been on the rise in recent years. Recent studies have found that the main cytokines and specific transcription factors secreted by Th17 and Treg cells (such as IL-17, TGF-β, ROR-γt, Foxp3) play an important role in immune-suppression. It has become the current research direction of the mechanism of occurrence, development and outcome of immune-related diseases. Objective: To investigate the relationship between the PTPN22 gene polymorphism (rs2488457) and the Th17 and Treg cells and factors in the peripheral blood mononuclear cells (PBMC) of Graves' disease (GD) patients with different iodine nutrition conditions. Conclusion: PTPN22 gene polymorphism (rs2488457) in GD patients and Th17 and Treg cells and their factors in PBMC are related to GD susceptibility

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