Searchable abstracts of presentations at key conferences in endocrinology

ea0044oc4.4 | Adrenal and Steroids | SFEBES2016

A Single Nucleotide Polymorphism in the BACH2 Gene Contributes to Susceptibility to Autoimmune Addison’s Disease in UK and Norwegian cohorts

Pazderska Agnieszka , Oftedal Bergithe , Napier Catherine , Ainsworth Holly , Husebye Eystein , Cordell Heather , Pearce Simon , Mitchell Anna

Background: Autoimmune Addison disease (AAD) is a rare but highly heritable endocrinopathy. The BACH2 protein plays a crucial role in T lymphocyte maturation, and in particular in regulatory T cell formation, and allelic variation in its gene has been associated with autoimmune conditions such as type 1 diabetes, autoimmune thyroid disease and vitiligo. Its role in susceptibility to autoimmune Addison’s disease (AAD) has not been investigated.Aim: T...