Association studies of the SAS-ZFAT, IL-23R, IFIH1 and FOXP3 genes in autoimmune thyroid disease

Abstract

Autoimmune thyroid diseases (AITDs) are complex diseases caused by an interaction between susceptibility genes and environmental triggers. Genetic susceptibility in combination with external factors, such as dietary iodine, is believed to initiate the autoimmune response against thyroid antigens. Abundant epidemiological data, including family and twin studies, point to a strong genetic influence in the development of AITDs. Various techniques have been employed to identify genes contributing to the etiology of AITDs, including candidate gene analysis and whole-genome screening. These studies have enabled the identification of several loci (genetic regions) that are linked to AITDs and, in some of these loci, putative AITD-susceptibility genes have been identified. Some of these genes/loci are unique to Graves’ disease (GD) and Hashimoto’s thyroiditis (HT), and some are common to both diseases, indicating that there is a shared genetic susceptibility to GD and HT. The putative GD and HT susceptibility genes include both immune-modifying genes (e.g., HLA, CTLA-4 and PTPN22) and thyroid-specific genes (e.g., TSHR and Tg). In this special report, we focus on the newest genes identified and not on those previously identified, such as HLA and CTLA-4, for which there are many reviews.