Liang Yan, Meng Shuai, Zhang Jin-an, Zhu Yuan-feng, Li Cui, Yang Xiang-ju, Jiang Wen-juan, He Shuang-tao, Xu Jian
a Clinical Research Center, the First Affiliated Hospital of Xi'an Jiaotong University Health Science Center , Xi'an , China and.
b Department of Endocrinology , Jinshan Hospital of Fudan University , Shanghai , China.
Autoimmunity. 2016;49(2):84-9. doi: 10.3109/08916934.2015.1124423. Epub 2015 Dec 24.
Former studies have revealed the link between the tumor necrosis factor (TNF) receptor-associated factor 1 (TRAF1) polymorphisms and autoimmunity. In the present study, we took an opportunity to investigate the association between TRAF1 and autoimmune thyroid disease (AITD) in order to find a new susceptibility gene. A total of 1029 AITD patients [677 Graves' disease (GD) patients and 352 Hashimoto thyroiditis (HT) patients] and 899 controls were enrolled. We used matrix-assisted laser desorption ionization-time of flight mass spectrometer (MALDI-TOF-MS) to detect the polymorphisms of rs4836834, rs10760130, rs10818488, rs2239658, rs2900180. We also explored the association between polymorphisms and clinical subphenotypes. Genotype frequencies of the five loci in all AITD patients were significantly different from those of controls. Genotype frequencies of rs10760130, rs2239658 and rs2900180 in GD patients were significantly different from controls. Allele analysis found that T allele of rs4836834, G allele of rs10760130, A allele of rs10818488, T allele of rs2239658 and T allele of rs2900180 were significantly higher in GD and AITD patients. No significant differences were found between HT patients and controls. Haplotype analysis found three haplotypes including ACAGC, TTGAT and TCGAC. ACAGC frequencies were significantly lower in GD and HT patients. However, TTGAT frequency was only significantly higher in GD patients. No significant results were found between polymorphisms and clinical subphenotypes. Our study reveals TRAF1 as a susceptibility gene of AITD in Chinese Han population.
既往研究揭示了肿瘤坏死因子（TNF）受体相关因子1（TRAF1）基因多态性与自身免疫性之间的联系。在本研究中，我们借此机会调查TRAF1与自身免疫性甲状腺疾病（AITD）之间的关联，以寻找一个新的易感基因。共纳入1029例AITD患者[677例格雷夫斯病（GD）患者和352例桥本甲状腺炎（HT）患者]以及899例对照。我们使用基质辅助激光解吸电离飞行时间质谱仪（MALDI-TOF-MS）检测rs4836834、rs10760130、rs10818488、rs2239658、rs2900180的基因多态性。我们还探讨了基因多态性与临床亚表型之间的关联。所有AITD患者中这五个位点的基因型频率与对照相比有显著差异。GD患者中rs10760130、rs2239658和rs2900180的基因型频率与对照有显著差异。等位基因分析发现，rs4836834的T等位基因、rs10760130的G等位基因、rs10818488的A等位基因、rs2239658的T等位基因和rs2900180的T等位基因在GD和AITD患者中显著更高。HT患者与对照之间未发现显著差异。单倍型分析发现了三种单倍型，包括ACAGC、TTGAT和TCGAC。ACAGC频率在GD和HT患者中显著更低。然而，TTGAT频率仅在GD患者中显著更高。基因多态性与临床亚表型之间未发现显著结果。我们的研究揭示TRAF1是中国汉族人群中AITD的一个易感基因。
