Yao Qiuming, An Xiaofei, Zhang Jing, Mu Kaida, Li Ling, Song Ronghua, Sun Peilong, Zhang Jin-An
Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, Jinshan District, Shanghai 201508, China.
Department of Endocrinology, The Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing 210023, China.
Int J Endocrinol. 2019 Jan 15;2019:7429187. doi: 10.1155/2019/7429187. eCollection 2019.
The objective of this study was to investigate whether polymorphisms are associated with autoimmune thyroid diseases (AITDs). We selected three single nucleotide polymorphisms (SNPs) of , namely, rs1061501, rs1131665, and rs1061502 for genotyping using PCR-based ligase detection reaction (LDR) method in a total of 1659 participants (592 with Graves' disease, 297 with Hashimoto's thyroiditis, and 770 healthy controls). Gene-disease and genotype-clinical phenotype associations were evaluated for the three SNPs. Our results showed that the AG genotype and the minor allele G frequency of rs1131665 and rs1061502 in AITD patients were both higher than those of the controls (rs1131665: AG genotype: = 0.017, OR = 1.968; allele G: = 0.018, OR = 1.946; rs1061502: AG genotype: = 0.029, OR = 1.866; allele G: = 0.031, OR = 1.847). Subgroup analysis also showed that the AG genotype and the minor allele G frequency of rs1131665 and rs1061502 in Graves' disease patients were both higher than those of the controls (rs1131665: AG genotype: = 0.015, OR = 2.074; allele G: = 0.016, OR = 2.048; rs1061502: AG genotype: = 0.034, OR = 1.919; allele G: = 0.035, OR = 1.898). Furthermore, the allele G frequency of rs1061501 was associated with Graves' ophthalmopathy ( = 0.035, OR = 1.396). No significant difference in polymorphisms was found between Hashimoto's thyroiditis patients and controls. Our study has revealed for the first time that is a susceptibility gene for AITD, especially for Graves' disease and Graves' ophthalmopathy.
本研究的目的是调查多态性是否与自身免疫性甲状腺疾病（AITD）相关。我们选择了三个单核苷酸多态性（SNP），即rs1061501、rs1131665和rs1061502，采用基于聚合酶链反应的连接酶检测反应（LDR）方法对总共1659名参与者（592例格雷夫斯病患者、297例桥本甲状腺炎患者和770名健康对照）进行基因分型。评估了这三个SNP的基因-疾病和基因型-临床表型关联。我们的结果显示，AITD患者中rs1131665和rs1061502的AG基因型以及次要等位基因G频率均高于对照组（rs1131665：AG基因型：P = 0.017，OR = 1.968；等位基因G：P = 0.018，OR = 1.946；rs1061502：AG基因型：P = 0.029，OR = 1.866；等位基因G：P = 0.031，OR = 1.847）。亚组分析还显示，格雷夫斯病患者中rs1131665和rs1061502的AG基因型以及次要等位基因G频率均高于对照组（rs1131665：AG基因型：P = 0.015，OR = 2.074；等位基因G：P = 0.016，OR = 2.048；rs1061502：AG基因型：P = 0.034，OR = 1.919；等位基因G：P = 0.035，OR = 1.898）。此外，rsl061501的等位基因G频率与格雷夫斯眼病相关（P = 0.035，OR = 1.396）。在桥本甲状腺炎患者和对照组之间未发现多态性的显著差异。我们的研究首次揭示，是AITD的一个易感基因，尤其是格雷夫斯病和格雷夫斯眼病的易感基因。 （注：原文中“”部分未明确具体基因名称，翻译时保留原样）
