Researchers have not always understood why some people develop Addison’s disease, a rare autoimmune condition affecting the adrenal glands, over others. Now, a new study conducted by Swedish and Norwegian researchers has identified nine gene variants which heighten the risk of developing this condition. According to Medical XPress, this recent study is the largest to ever be performed in regards to Addison’s disease. Read the full study findings in Nature Communications.

The Research

Because Addison’s disease is considered a rare genetic disease, it is sometimes difficult to research. This study, then, represents a huge step forward in the research process. During the study, researchers enrolled over 1,200 individuals with Addison’s. Additionally, they sourced data from over 4,000 healthy controls. After sourcing the data, researchers analyzed 7 million gene variants. Through this, they discovered nine genes more commonly found in patients.

Previously, some of these genes have been linked to other autoimmune disorders. However, the AIRE gene, which plays a role in how immune T-cells handle certain proteins, could specifically play a role in Addison’s disease. In fact, more AIRE protein is found in these patients, with the protein modified to include another amino acid.

Addison’s Disease

Overall, Addison’s disease is caused by adrenal gland damage, though what causes this damage can vary. In most cases, the condition is caused by an abnormal immune response. The immune system mistakenly attacks the adrenal cortex, preventing it from producing enough cortisol or aldosterone, types of hormones. Beyond an autoimmune response, cancer, chronic infections, surgery, and hemorrhages can cause this condition. Normally, cortisol helps regulate inflammatory responses, tell the liver when to raise blood sugar, and control water and nutrient flow. Aldosterone, alternately, regulates salt and water (and thus blood pressure and blood volume). An estimated 100-150 in every 1 million individuals has Addison’s. Symptoms include:

• Unintended weight loss
• Appetite loss
• Dehydration
• Fatigue and lethargy
• Nausea and vomiting
• Darkening skin
• Low blood pressure
• Irritability
• Depression
• Craving salty foods
• Dizziness and fainting
• Muscle weakness
• Menstruation loss

Learn more about Addison’s disease.