Role of the Autoimmune Regulator (AIRE) Gene in Alopecia Areata: Strong Association of a Potentially Functional AIRE Polymorphism With Alopecia Universalis

This study investigated the role of the autoimmune regulator (AIRE) gene in the pathogenesis of alopecia areata, a condition characterized by hair loss. Researchers screened the AIRE coding sequence and identified 20 variants, focusing on two that resulted in amino acid changes. They genotyped 202 alopecia areata patients and 175 matched Caucasian controls, finding a significant increase in the frequency of the rare AIRE G961C allele in patients, particularly those with severe alopecia universalis. The AIRE 961G allele was identified as a potent risk factor for severe alopecia areata and early onset of the disease. The study suggested that changes in the AIRE protein's DNA-binding activity could explain the high frequency of alopecia areata in patients with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia syndrome (APECED), supporting the idea of alopecia areata as an autoimmune disease.