Recent advances in the association studies of autoimmune thyroid disease and the functional characterization of AITD-related transcription factor ZFAT.

Autoimmune thyroid disease (AITD), including Graves'disease (GD) and Hashimoto's thyroiditis (HT), is caused by immune response to self-thyroid antigens, and affects up to 2-5% of the general population. Twin studies and familial aggregation have clearly indicated the involvement of genetic factors with AITD in addition to environmental factors. Known AITD-susceptibility genes are classified into three categories: HLA genes, non-HLA immune-related genes, and thyroid-specific genes. A comprehensive catalogue of AITD-susceptibility genes with major effects will facilitates elucidating the molecular mechanisms underlying the initiation of AITD. Genome-wide association studies conducted for autoimmune diseases in the last few years have identified a significant number of novel loci contributing disease risk. In this review, we describe the current status of genome-wide association studies for GD and the recent advances in the functional characterization of ZFAT, an AITD-related transcription factor previously identified by our genetic analyses for the Japanese GD population.