Endocrine Abstracts

Autoimmune diseases (AIDs) have been shown to share a series of genetic susceptibility loci, including the HLA class II region, CTLA-4 and PTPN22, indicating the sharing of key pathways between diseases. Recently, the rs1801274 single nucleotide polymorphism (SNP) within the Fc gamma receptor 2a gene (FcGR2a) has been shown to be associated with several common AIDs including type 1 diabetes, rheumatoid arthritis and coeliac disease. FcGR2a is an immune mod...

Genetic variants consistently associated with the development of Graves’ disease (GD) have, to date, been general autoimmunity loci including those within the HLA region, the CTLA-4 gene and most recently the PTPN22 gene encoding lymphoid tyrosine phosphatase (LYP). The thyrotophin receptor gene (TSHR) has recently however, been identified as the first Graves’ disease specific susceptibility locus. To further refine association with disease and exclude populat...