Endocrine Abstracts

The HLA class II region, in particular DRB1/DQA1/DQB1, has been consistently associated with Graves’ disease (GD) for over thirty years. Only recently has work within our own group made progress in narrowing down the etiological variant(s) present within DRB1/DQA1/DQB1, by excluding DQB1, and by mapping association at DRB1 to nine amino acid positions present within the peptide binding domain, with position β74 being the most associated. Independ...

PTPN22, encodes lymphoid tyrosine phosphatise (LYP), an important inhibitor of T lymphocyte activation and has been associated with numerous autoimmune diseases including type 1 diabetes, rheumatoid arthritis, and Graves’ disease (GD). Consistent association has been reported between disease and a non-synonymous SNP +1858 C>T (rs2476601) encoding an Arginine to Tryptophan substitution at amino acid 620 of LYP. Our group was the first to show strong evidence of ...

Recently, linkage between chromosome 1q23 and rheumatoid arthritis within the Japanese population has been narrowed down to association of four single nucleotide polymorphisms (SNPs), fcrl3_3, fcrl3_4, fcrl3_5 and fcrl3_6, within FCRL3, a known regulator of B cell signalling. Of these four SNPs, fcrl3_3 was shown to disrupt FCRL3 expression on B cells, suggesting a potential etiological role. Association of fcrl3_3 was also replicated in a Japanese Graves’ disease ...