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Main genetic causes of autoimmune Addison's disease identified

Date:
February 12, 2021
Source:
The University of Bergen
Summary:
Scientists have discovered the genes involved in autoimmune Addison's disease.
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FULL STORY

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 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 (this is what makes matching donors and recipients in organ transplants necessary) and two different types of a gene called AIRE (which stands for AutoImmune REgulator).

AIRE is a key factor in shaping the immune system by removing self-reacting immune cells. 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 (currently ongoing in Prof. Husebye's lab). The fact that it is now feasible to map the genetic risk profile of an individual also means that personalised treatment aimed at stopping and even reversing the autoimmune adrenal destruction can become a feasible option in the future.


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Materials provided by The University of Bergen. Note: Content may be edited for style and length.


Journal Reference:

  1. Daniel Eriksson, Ellen Christine Røyrvik, Maribel Aranda-Guillén, Amund Holte Berger, Nils Landegren, Haydee Artaza, Åsa Hallgren, Marianne Aardal Grytaas, Sara Ström, Eirik Bratland, Ileana Ruxandra Botusan, Bergithe Eikeland Oftedal, Lars Breivik, Marc Vaudel, Øyvind Helgeland, Alberto Falorni, Anders Palmstrøm Jørgensen, Anna-Lena Hulting, Johan Svartberg, Olov Ekwall, Kristian Johan Fougner, Jeanette Wahlberg, Bjørn Gunnar Nedrebø, Per Dahlqvist, Per Morten Knappskog, Anette Susanne Bøe Wolff, Sophie Bensing, Stefan Johansson, Olle Kämpe, Eystein Sverre Husebye. GWAS for autoimmune Addison’s disease identifies multiple risk loci and highlights AIRE in disease susceptibility. Nature Communications, 2021; 12 (1) DOI: 10.1038/s41467-021-21015-8

Cite This Page:

The University of Bergen. "Main genetic causes of autoimmune Addison's disease identified." ScienceDaily. ScienceDaily, 12 February 2021. <www.sciencedaily.com/releases/2021/02/210212111859.htm>.
The University of Bergen. (2021, February 12). Main genetic causes of autoimmune Addison's disease identified. ScienceDaily. Retrieved December 13, 2024 from www.sciencedaily.com/releases/2021/02/210212111859.htm
The University of Bergen. "Main genetic causes of autoimmune Addison's disease identified." ScienceDaily. www.sciencedaily.com/releases/2021/02/210212111859.htm (accessed December 13, 2024).

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