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碘是合成甲状腺激素的重要原料，钠碘转运体（NIS）、氯碘转运体（Pendrin）、碘酪氨酸脱碘酶（IYD）、甲状腺球蛋白（TG）、甲状腺过氧化物酶（TPO）和促甲状腺激素受体（TSHR）作为甲状腺激素合成重要的相关基因，均参与碘代谢。甲状腺激素合成相关基因功能异常不仅与甲状腺疾病相关，还与乳腺癌等其他疾病相关。文中对甲状腺激素合成相关基因的功能、与疾病的关系，以及如何受碘的调控进行综述，以期为碘与疾病关系的研究提供新思路。“,”Iodine is an important raw material for thyroid hormone synthesis. Sodium iodide symporter (NIS), chloride iodine transporter (Pendrin), iodotyrosine deiodinase (IYD), thyroglobulin (TG), thyroid peroxidase (TPO) and thyroid stimulating hormone receptor (TSHR) are important genes related to thyroid hormone synthesis, all of them are involved in iodine metabolism. The dysfunction of genes related to thyroid hormone synthesis is not only related to thyroid diseases, but also related to other diseases such as breast cancer. In this paper, the function of genes related to thyroid hormone synthesis, the relationship between genes related to thyroid hormone synthesis and diseases, and how to be regulated by iodine are reviewed, in order to provide new ideas for the study of the relationship between iodine and diseases.