Polymorphisms in Th17-related genes and the pathogenesis of autoimmune thyroid disease.

The prognosis of autoimmune thyroid disease (AITD) including Graves' disease (GD) and Hashimoto's disease (HD) is difficult to predict. We previously suggested that Th17 cells may be associated with the pathogenesis of AITD. However, the association between gene polymorphisms in Th17-related genes and the prognosis of AITD was not clarified. To clarify this association, we genotyped 12 polymorphisms in 11 Th17-related genes (, , , , , , , , , and ) in 142 HD patients including 58 patients with severe HD and 48 patients with mild HD, 170 patients with GD including 81 patients with intractable GD and 49 patients with GD in remission, and 84 healthy volunteers. The frequency of the rs763780 T allele was higher in patients with severe HD than in patients with mild HD ( = .008). The frequency of the rs9606615 T allele was higher in patients with HD than in normal subjects ( = .011). The frequencies of the rs4969170 AA genotype, rs3093024 AA genotype, and rs907715 AA genotype were higher in patients with intractable GD than in patients with GD in remission ( = .035,  = .002 and  = .030, respectively). In conclusion, rs9607715 and rs763780 polymorphisms are associated with the susceptibility and severity of HD, respectively. rs907715, rs4969170 and rs3093024 polymorphisms are associated with the intractability of GD.