Endocrine Abstracts

Objective: The SH2B3 gene encodes the src homology-2B adaptor protein 3, also known as lymphocyte adaptor protein (LNK), and is a negative regulator of T lymphocyte activation and the cytokine signalling pathways involved in inflammation and haematopoiesis. rs3184504, a non-synonymous SNP (R262W) in exon 3 of the SH2B3 gene, has been associated with numerous autoimmune conditions including type 1 diabetes, rheumatoid arthritis and coeliac disease. Th...

Background: Autoimmune Addison’s disease (AAD) is a rare endocrinopathy arising from a complex interplay between multiple genetic susceptibility polymorphisms and environmental factors. Several variants in immune pathways have been identified through hypothesis-driven candidate gene analysis, though these associations can prove difficult to replicate. The first genome wide association study (GWAS) with patients from Scandinavian Addison’s registries identified associ...