Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82

Using whole exome sequencing and gene-level burden analyses on 849 patients with Alopecia Areata and 15,640 controls, this study identified rare damaging variants in the KRT82 gene as a significant risk factor for the disease. KRT82, which is a hair-specific keratin expressed in the hair shaft cuticle, was found to have rare variants in 51 heterozygous individuals (6.01%) with Alopecia Areata, reaching genome-wide significance with a p-value of 2.18E-07. The study also noted that Alopecia Areata patients with these KRT82 variants showed decreased expression of the gene and had increased CD8 immune cell infiltrates around hair follicles, suggesting a mechanism where these variants may contribute to hair loss by affecting hair shaft integrity and triggering an immune response.