Immune checkpoint gene TIGIT related trans-eQTL polymorphisms confer risk of autoimmune thyroid diseases: a case-control study
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Updated: Oct 30, 2026

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
Published on: March 17, 2023
Hao-Qi Guo1, Xin-Wei Zhang2, Xin Chen2
1Department of Clinical Laboratory, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai, 201318, China; School of Medicine, Anhui University of Science and Technology, Huainan, 232001, China.
Abstract:
Autoimmune thyroid diseases (AITD), including Graves' disease (GD) and Hashimoto's thyroiditis (HT), are characterized by impaired immune tolerance to thyroid autoantigens. T cell immunoglobulin and ITIM domain (TIGIT) plays an indispensable role in maintaining immune homeostasis and suppressing autoimmune responses. This case-control study aimed to explore the correlation between the single nucleotide polymorphisms (SNPs) of TIGIT related trans-eQTL and AITD susceptibility in the Chinese Han population. A total of 765 AITD patients (468 GD and 297 HT) and 503 controls were enrolled in this study, and genotyping of TIGIT related trans-eQTL SNPs (rs11221332, rs2153271 and rs3802826) was performed using Hi-seq genotyping method. The results demonstrated that the frequency of the T allele at rs11221332 was significantly higher in GD (P = 0.030, OR = 1.663). Further genetic model analysis showed that the dominant model also presented a significant association, with carriers of the T allele having a notably increased risk of GD (P = 0.046, OR = 1.620). Moreover, TIGIT related trans-eQTL polymorphisms were significantly associated with a positive family history of GD. In conclusion, the TIGIT related trans-eQTL polymorphisms are significantly associated with GD susceptibility in the Chinese Han population, which provides new insights into the immunogenetic mechanism of GD and a theoretical basis for early risk screening of the disease.
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