GWAS Identifies Genes Involved in Addinson’s Disease

Scientists from the University of Bergen in Norway and Karolinska Institutet in Sweden have identified genes involved in Addison's disease. Their findings were published in Nature. 

By combining the world's two largest Addison's disease registries, lead researcher Eystein Husebye and his team were able to identify strong genetic signals associated with the disease. Most of them are directly involved in the development and functioning of the human immune system including specific molecular types in the so-called HLA-region and two different types of a gene called AIRE (Autoimmune Regulator).

Variants of AIRE, such as the ones identified in this study, could compromise this elimination of self-reacting cells, which could lead to an autoimmune attack later in life. Knowing what predisposes people to develop Addison's disease opens up the possibilities of determining the molecular repercussions of the predisposing genetic variation. 

Having the ability to map the genetic risk profile of an individual also means that personalized treatment aimed at stopping and even reversing the autoimmune adrenal destruction can become a feasible option in the future.