Abstract

As there are no previous studies on the interleukin-22 (IL-22) variants in autoimmune thyroid disease (AITD), the present study aimed to explore the association between polymorphisms of IL-22 and the predisposition to AITD. The study had 975 AITD patients, including 639 Graves' disease (GD) and 336 Hashimoto's thyroiditis (HT) individuals and 851 healthy cohorts. Ligase detection reaction (LDR) and direct sequencing method were used for genotyping the IL-22 gene polymorphisms at rs2046068, rs2227478, rs2227485, rs11611206, and rs1179251. In comparison to female controls, genotype CC of rs1179251 was increased in the female AITD patients. Alleles C at rs2046068, C at rs2227478, and C at rs1179251 linked to the susceptibility of HT males. Genotype CC in rs1179251 was higher in male HT. Variants at rs2046068, rs2227478, and rs1179251 were associated with the AITD teenagers. Besides, genotype GG in rs11611206 was correlated with thyroid-associated ophthalmopathy (TAO). Moreover, allele G at rs11611206 was associated with decreased risk for TAO by 28.9%. Similarly, genotype CC of rs1179251 and genotype GG of rs11611206 were associated with Graves' ophthalmopathy (GO). Allele G in rs11611206 increased people with HT towards the predisposition of hypothyroidism. In conclusion, genetic variants of IL-22 are associated with the occurrence of AITD.

Highlights

  • Autoimmune thyroid disease (AITD), known to be the most common endocrine autoimmune disease, is an organic disease caused by immune irregulation related to the thyroid gland

  • A study of ours revealed the protein level of interleukin-22 (IL-22) in serum, and the expression of IL-22 mRNA in peripheral blood mononuclear cells (PBMCs) was elevated in Graves’ disease (GD) patients compared to healthy volunteers, implying IL-22 as an inflammatory cytokine participating in GD [9]

  • We studied 975 patients with AITD (639 GD cases and 336 Hashimoto’s thyroiditis (HT) cases) and 851 healthy volunteers of Chinese origin

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Summary

Introduction

Autoimmune thyroid disease (AITD), known to be the most common endocrine autoimmune disease, is an organic disease caused by immune irregulation related to the thyroid gland. AITD mainly includes two subtypes, Graves’ disease (GD) and Hashimoto’s thyroiditis (HT). Polymorphisms in the genes, like TNFAIP3 [2, 3], IL-37 [4], and IRAK1/MECP2 [5], have been implicated in the occurrence and development of AITD. A study of ours revealed the protein level of interleukin-22 (IL-22) in serum, and the expression of IL-22 mRNA in peripheral blood mononuclear cells (PBMCs) was elevated in GD patients compared to healthy volunteers, implying IL-22 as an inflammatory cytokine participating in GD [9]. AITD: autoimmune thyroid disease; GD: Graves’ disease; HT: Hashimoto’s thyroiditis. Their correlation with the development of AITD and its clinical phenotypes

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