The regulatory T cell gene FOXP3 and genetic susceptibility to thyroid autoimmunity: an association analysis in Caucasian and Japanese cohorts.

摘要: FOXP3 is a key gene in the development of regulatory T cells (Treg). expression commits naive to become Treg cells. Indeed, mutations cause severe systemic autoimmune diseases humans and mice. Therefore, we hypothesized that may be associated with thyroid autoimmunity which among typical develop individuals mutations. Moreover, located within an X-chromosome locus (Xp11.23) previously shown linked (AITD). We tested for association AITD two large cohorts US Caucasians Japanese patients. analyzed 269 Caucasian patients (52 males 217 females) 357 controls (159 198 females), as well 377 female 179 controls. The was using four microsatellite polymorphisms [(GT)n; (TC)n; DXS573; DXS1208] flanking locus. Interestingly, while no found between cohort there significant cohort. There (TC)n polymorphism male (p=0.011; 5 degrees freedom [df]). Similarly, DXS573 (p=0.00023; 4 df). These results suggest play role genetic susceptibility Caucasians, perhaps by altering function and/or expression.