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. 2022 Dec 31;27(4):256–264. doi: 10.6065/apem.2244186.093

Table 2.

Major genes associated with autoimmune thyroid disease

Gene name Function
Protein tyrosine phosphatase non-receptor type 22 (PTPN22) The PTPN22 gene encodes an enzyme belonging to the protein tyrosine phosphatase (PTP) family. The PTPN22 protein controls T cells in the immune system through signaling.
Cytotoxic T-lymphocyte associated protein 4 (CTLA4) This inhibitory receptor negatively regulates T-cell response.
Interleukin 2 receptor subunit alpha (IL2RA) Regulatory T cells control immunity by activating the receptor, which regulates immunity tolerability. T cells that produce autoreactive antibodies are suppressed.
Fc-receptor-like 3 (FCRL3) T cells expressing FCRL3 exhibit a memory phenotype, are relatively insensitive to antigenic stimulation and are less capable of suppressing effector T-cell proliferation.
Thyroid hormone stimulating receptor (TSHR) The hormonal receptor also binds to heterodimeric glycoproteins called thyrostimulin. An adenylatecyclase-activated G protein mediates the activity of this receptor. This hormone controls thyroid cell metabolism.
GD Candidate gene at 4p14 (GDCG4P14) A newly cloned gene, GDCG4p14, was expressed more strongly in CD4+ and CD8+ T cells.
Ribonuclease T2 (RNASET2) It plays an essential role in the innate immune response by recognizing and degrading microbial pathogenic RNAs.
BTB domain And CNC homolog 2 (BACH2) A transcriptional regulator that functions as a repressor or activator. A crucial role for MAF BZIP transcription factor K is coordinating the activation and repression of transcription.
Forkhead box E 1 (FOXE1) Enhances the transcriptional activity of Tg and TPO genes. Moreover, it functions as a transcriptional repressor specific to the promoters of both genes.