Autoimmune Thyroid Disease Genes Identified in Non-Caucasians英文文献资料.docVIP

Open Journal of Endocrine and Metabolic Diseases, 2012, 2, 107-116 /10.4236/ojemd.2012.24017 Published Online November 2012 (http://www.SciRP.org/journal/ojemd) Autoimmune Thyroid Disease Genes Identified in Non-Caucasians Yoshihisa Ban , Yoshiyuki Ban , Yoshio Ban 1 2* 1 1 Ban Thyroid Clinic, Tokyo, Japan 2 Division of Diabetes, Metabolism, and Endocrinology, Department of Medicine, School of Medicine, Showa University, Tokyo, Japan * Email: yshyban@yahoo.co.jp Received June 13, 2012; revised July 15, 2012; accepted August 19, 2012 ABSTRACT Autoimmune thyroid diseases (AITDs), including Graves’ disease (GD) and Hashimoto’s thyroiditis (HT), are among the commonest autoimmune disorders, affecting approximately 2% - 5% of the population. Epidemiological data sup- port strong genetic influences on the development of AITD. The identification of genes placing individuals at an in- creased risk for the development of AITD has been a slow process. However, over the last 20 years or so real progress has been made with the mapping of novel loci, via a number of different approaches. The first AITD gene discovered, Human Leucocyte Antigen (HLA)/Major Histocompatibility Complex (MHC), is associated with both GD and HT. Non-MHC genes that confer susceptibility to AITD can be classified into two groups: (1) immune-regulatory genes (e.g., CD40, CTLA-4, and PTPN22); (2) thyroid-specific genes—thyroglobulin and TSH receptor genes. These genes interact with environmental factors, such as infection, likely through epigenetic mechanisms to trigger disease. In this review, we will summarize the latest findings on AITD susceptibility genes in non-Caucasians. Keywords: Gene; Thyroid; Autoimmunity; Association 1. Introduction started to be dissected as well. In Caucasians, the first locus shown to be associated with AITDs was the HLA-DRB1 locus (reviewed in [5