Genetic determinants of Graves disease

Basedow-Graves disease is an autoimmune thyroid syndrome. Genetic factors c ontribute to the pathogenesis of Graves disease, and current findings confi rm that a number of genes may be involved in the development of autoimmune thyrotoxicosis. At present three loci, namely human leukocyte antigen (HLA, 6p21.3), cytotoxic T-lymphocyte-associated esterase-4 (CTLA4, 2q33), and t hyroid-stimulating hormone receptor (TSHR, 14q31), are the only well-known genetic determinants for Graves disease. It is difficult to determine clear ly the contribution of large multifunctional proteasome genes and transport er genes associated with antigen processing in the disorder, because of str ong linkage disequilibrium between these genes and certain HLA alleles. Two recently discovered suspectibility loci, 20q11.2 and Xq21.33-q22, should b e studied to find specific genes linked to Graves disease. (C) 2000 Academi c Press.