Whole Exome Sequencing in Alopecia Areata Patients Identifies a Hotspot Mutation in the Type II Hair Keratin Gene, KRT82
TLDR A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
Researchers performed whole exome sequencing (WES) on 849 Alopecia Areata (AA) patients and 15,640 controls to identify rare genetic variants contributing to AA. They discovered that the type II hair keratin gene, KRT82, had the most variants in AA patients, with 51 out of 849 patients (6.01%) carrying rare damaging mutations. The most common mutation was a nonsense mutation at arginine position 47 (R47X), found in 15 patients (1.77%). KRT82 is expressed in the hair shaft cuticle during the anagen phase, and its loss may disrupt hair shaft integrity, contributing to AA pathogenesis. This study highlighted KRT82 as a novel gene implicated in AA through structural defects in the hair shaft.
