Hou Xin, Mao Jinyuan, Li Yushu, Li Jia, Wang Weiwei, Fan Chenling, Wang Hong, Zhang Hongmei, Shan Zhongyan, Teng Weiping
Key Laboratory of Endocrine Diseases, Liaoning Province, Shenyang, China.
Department of Geriatric Endocrinology and Metabolism, The First Hospital of China medical University, Shenyang, China.
BMC Med Genet. 2015 Sep 2;16:76. doi: 10.1186/s12881-015-0222-x.
The autoimmune thyroid diseases (AITD), including Graves' disease (GD) and Hashimoto's thyroiditis (HT), are caused by interactions between susceptibility genes and environmental triggers. Single nucleotide polymorphisms (SNPs) of Solute carrier family 22, member 4 (SLC22A4) have been shown to be associated with several autoimmune diseases, including Crohn's disease (CD) and rheumatoid arthritis (RA). The aim of this study is to investigate whether SNP rs3792876 in the SLC22A4 gene is associated with GD, HT and AITD in a Chinese Han population.
In this study, we collected specimens from 553 Chinese Han individuals of 92 AITD pedigrees in 10 cities in Liaoning province, China (80 GD pedigrees, 478 members; 12 HT pedigrees, 75 members). SNP rs3792876 was genotyped using the TaqMan allelic discrimination assay. Hardy-Weinberg Equilibrium tests were performed among founders of the pedigrees using Haploview software. Family-based association tests performed using FBAT software.
No deviation from Hardy-Weinberg equilibrium was observed (p > 0.05). There were not significant association between the SLC22A4 gene polymorphism (rs3792876) and GD, HT and AITD was found.
These results suggest a lack of association between the SLC22A4 gene polymorphism rs3792876 and susceptibility to GD, HT and AITD in a Chinese Han population.
自身免疫性甲状腺疾病（AITD），包括格雷夫斯病（GD）和桥本甲状腺炎（HT），是由易感基因与环境触发因素相互作用引起的。溶质载体家族22成员4（SLC22A4）的单核苷酸多态性（SNP）已被证明与多种自身免疫性疾病相关，包括克罗恩病（CD）和类风湿性关节炎（RA）。本研究的目的是调查SLC22A4基因中的SNP rs3792876是否与中国汉族人群的GD、HT和AITD相关。
在本研究中，我们从中国辽宁省10个城市的92个AITD家系的553名中国汉族个体中收集了标本（80个GD家系，478名成员；12个HT家系，75名成员）。使用TaqMan等位基因鉴别分析对SNP rs3792876进行基因分型。使用Haploview软件在各系谱的创始人中进行哈迪-温伯格平衡检验。使用FBAT软件进行基于家系的关联检验。
未观察到偏离哈迪-温伯格平衡的情况（p>0.05）。未发现SLC22A4基因多态性（rs3792876）与GD、HT和AITD之间存在显著关联。
这些结果表明，在中国汉族人群中，SLC22A4基因多态性rs3792876与GD、HT和AITD的易感性之间缺乏关联。
