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1自身免疫性甲状腺疾病(autoimmune thyroid diseases,AITDs)与单核苷酸多态性(single nucleotide polymorphisms,SNPs)概况1.1 AITDs AITDs是一种器官特异性自身免疫性疾病(autoimmune diseases,AIDs),包括Graves’病(Graves’disease,GD)和桥本甲状腺炎(Hashimotos’thyroiditis,HT)。GD以高甲状腺素血症、弥漫性甲状腺肿、促甲状腺激素受体抗体(TRAb)阳性、Graves’眼病和胫前黏液性水肿为特征;而HT以甲状腺细胞凋亡导致甲状腺功能减退为特征;但它们有共同特征,都伴有T细胞的浸润和甲状腺自身抗体的产生,并且像其他AIDs类似有家族聚集现象。研究[1]表明GD病患病同胞的患病风险>15%,并有研究[2]表明作为亚临床标志
1 Overview of autoimmune thyroid diseases (AITDs) and single nucleotide polymorphisms (SNPs) 1.1 AITDs AITDs are organ-specific autoimmune diseases (AIDs) that include Graves’ disease (GD) and Hashimotos thyroiditis (HT). GD is characterized by hyperhypothyremia, diffuse goiter, TRT positive, Graves’ ophthalmopathy and anterior tibial myxedema; whereas HT is characterized by thyroid cell apoptosis leading to hypothyroidism; But they share common features, both with infiltration of T cells and the production of thyroid autoantibodies and familial aggregation similar to other AIDs. The study [1] showed that the prevalence of sib disease in GD patients was> 15% and there was a study [2] that as a subclinical marker