Scientists identify genes involved in autoimmune Addison s disease
Novel genetic associations could pave the way for early interventions and personalized treatment of an incurable condition.
Scientists from the University of Bergen (Norway) and Karolinska Institutet (Sweden) have discovered the genes involved in autoimmune Addison s disease, a condition where the body s immune systems destroys the adrenal cortex leading to a life-threatening hormonal deficiency of cortisol and aldosterone.
Groundbreaking study
The rarity of Addison s disease has until now made scanning of the whole genome for clues to the disease s genetic origins difficult, as this method normally requires many thousands of study participants. However, by combining the world s two largest Addison s disease registries, Prof. Eystein Husebye and his team at the University of Bergen and collaborators at Karolinska Institutet in Sweden (prof. Kämpe) were able to identify strong genetic signals associated with the d
Variants of nine genes induce a higher risk of developing Addison s disease
Variants of nine genes increase the risk of developing Addison s disease, a rare disease in which the immune system attacks the adrenal glands. That is according to the largest genetic study to date on patients with Addison s disease. The findings help increase knowledge about what causes the disease. The study was conducted by researchers at Karolinska Institutet, Sweden, and Bergen University, Norway, and is published in the journal
Nature Communications. By studying the single largest collection of samples from patients with Addison s disease, we ve been able to carry out the first genetic study of the disease that spans the entire human genome, says Daniel Eriksson, doctor and researcher in the experimental endocrinology group at the Department of Medicine, Solna, Karolinska Institutet, who has led the study with doctoral student Maribel Aranda and docent Sophie Bensing at the Swedish Addison Regist