TSHR基因内含子1区域多态性与Graves病停药后复发的关系-内科学专业论文.docxVIP

PAGE PAGE 2 辑回归分析，我们发现 TSHR 基因内含 1 区上的主效易感位点有两个，分别是 r rs4903964。2、在 rCC、CT、TT 和 rs4903964_GG、AG、 AA 三种基因型亚组之间病人血清 TRAb 阳性率具有显著统计学差异分别为 66.67%、69.12%、66.67%和 69.77%、69.87%、81.27%，(P =0.0045,P =0.0096)； 其它所研究的临床表现如性别、甲状腺肿大程度、甲亢眼征等在 r rs4903964 三亚组之间均无差异（P 0.05）。3、在 70 个复发患者中，rT 和 rs4903964_A 在早期复发组频率明显较另外两组高（P 值分别为 P=0.006，P =0.009）。 结论 本研究所探讨的 TSHR 基因内含子 1 区上的 6 个 SNPs 中 r rs179247 ， rs4903964 与 蚌 埠 地 区 汉 族 人 群 GD 易 感 性 明 显 相 关 联 ； 其 中 rrs4903964 是本区段上的主效易感位点，该 SNP 与血清 TRAb 水平 有关，但与性别、甲状腺肿大程度、有无突眼无明显关联； rT 和 rs4903964_A 预示患者停药后早期复发。 【关键词】Graves 病； TSHR 基因； 单核苷酸多态性；TSH 受体抗体；复发 Polymorphisms in Intron 1 region of the TSHR Is Associated with Relapse of Graves’ Hyperthyroidism after Antithyroid Withdrawal Abstract Objective: To explore the association between polymorphisms and Graves’ disease (GD) susceptivity. We examine the genotype descriptions of single neucleotide polymorphisms (SNPs) at thyroid stimulating hormone receptor gene (TSHR) intron 1, (including rs179247, rr rs2284722, rs2300525 and rs4903964) in GD and normal control population . We further discussed the associations with clinical features of the GD patients, such as, ophthalmic signs, serum level of thyroid stimulating hormone receptor antibody (TRAb), thyroid diffused goiter and the relapse of Graves’ Hyperthyroidism after antithyroid withdrawal. Methods: Taqman probe technique was used to detected six SNPs genotypes on Fluidigm EP1 platform in 646 control subjects and 618 GD patients recruited from The First Affiliated Hospital of Bengbu Medical. We then correlated genotypes with GD. Meanwhile, TSH receptor antibodies (TRAb) of the patients were measured.The genotypes were then caralated with clinical manifestations, such as, ophthalmic signs, serum level of thyroid stimulating hormone receptor antibody (TRAb), thyroid diffused goiter and the relapse of Graves’ Hyperthyroidism after antithyroid withdrawal.