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.
Keywords: Graves’ disease; Hashimoto thyroiditis; Tumor necrosis factor receptor-associated factor 1; autoimmune thyroid disease; single nucleotide polymorphism.