Utilizing Functional Genomics Approaches to Characterize Risk Genes in Alopecia Areata

The study utilized targeted genomic sequencing and whole exome sequencing (WES) to explore genetic variants contributing to alopecia areata (AA), an autoimmune disease causing hair loss. In a cohort of 849 AA patients, targeted sequencing identified non-coding variants in the STX17 gene, linked to reduced expression and increased immunogenicity in hair follicles. WES revealed rare damaging mutations in the KRT82 gene, associated with weakened hair follicle structure and increased immune attack. These findings highlighted novel genetic contributions to AA, emphasizing the role of hair follicle perturbations in disease susceptibility, beyond the immune response.